Individual #00000001

Reference -
Remarks Variants from 296 reference individuals using Affymetrix 6.0 SNP array.
Reference = hg19
Panel size 296
Diseases -
Owner name Admin


Stop! No phenotypes found for this individual!



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904756 Admin



Variants

904756 entries on 9048 pages. Showing entries 1 - 100.
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Chr

Allele

DNA change (genomic) (hg19)

Reference

DB-ID

dbSNP ID

Frequency

Owner

Gene

Effect

Exon

DNA change (cDNA)

Position

RNA change

Protein
1 Unknown g.1156131C>T dbSNP SDF4_000001 rs2887286 0.70946 Admin SDF4 ./. - NM_016176.3:c.578-1824G>A - - -
1 Unknown g.2234251A>G dbSNP SKI_000001 rs1496555 0.86993 Admin SKI ./. - NM_003036.3:c.970-166A>G - r.(=) p.(=)
1 Unknown g.2329564A>G dbSNP RER1_000001 rs41477744 0.98986 Admin RER1 ./. - NM_007033.4:c.186+905A>G - - -
1 Unknown g.2553624C>T dbSNP MMEL1_000001 rs3890745 0.64020 Admin MMEL1 ./. - NM_033467.3:c.154+7146G>A - - -
1 Unknown g.2936870C>T dbSNP chr1_000001 rs10492936 0.02534 Admin - - - - - -
1 Unknown g.2951834C>T dbSNP chr1_000084 rs10489588 0.19932 Admin - - - - - -
1 Unknown g.3095126C>G dbSNP PRDM16_000002 rs2376495 0.75000 Admin PRDM16 ./. - NM_022114.3:c.38-7563C>G - r.(=) p.(=)
1 Unknown g.3165267A>C dbSNP PRDM16_000001 rs4648462 0.02534 Admin PRDM16 ./. - NM_022114.3:c.438+4566A>C - r.(=) p.(=)
1 Unknown g.3302871C>T dbSNP PRDM16_000003 rs10492939 0.24155 Admin PRDM16 ./. - NM_022114.3:c.573+1021C>T - - -
1 Unknown g.3705226C>G dbSNP LRRC47_000001 rs9424283 0.58446 Admin LRRC47 ./. - NM_020710.2:c.616-1352G>C - r.(=) p.(=)
1 Unknown g.3720965A>G dbSNP chr1_000126 rs2154068 0.58277 Admin - - - - - -
1 Unknown g.3763164A>G dbSNP CEP104_000001 rs12060299 0.98311 Admin CEP104 ./. - NM_014704.3:c.426+875T>C - - -
1 Unknown g.3763567A>G dbSNP CEP104_000002 rs10909802 0.01351 Admin CEP104 ./. - NM_014704.3:c.426+472T>C - - -
1 Unknown g.3766240A>G dbSNP CEP104_000003 rs16824230 0.25000 Admin CEP104 ./. - NM_014704.3:c.114-895T>C - r.(=) p.(=)
1 Unknown g.3766286A>C dbSNP CEP104_000005 rs17404435 0.37838 Admin CEP104 ./. - NM_014704.3:c.114-941T>G - - -
1 Unknown g.4340877A>G dbSNP chr1_000004 rs12059199 0.32264 Admin - - - - - -
1 Unknown g.4343434C>G dbSNP chr1_000007 rs6702000 0.33446 Admin - - - - - -
1 Unknown g.4343545A>C dbSNP chr1_000008 rs16838547 0.01689 Admin - - - - - -
1 Unknown g.4343581C>T dbSNP chr1_000009 rs16838549 0.02196 Admin - - - - - -
1 Unknown g.4377032C>T dbSNP chr1_000028 rs3912752 0.16385 Admin - - - - - -
1 Unknown g.4471733C>T dbSNP chr1_000028 rs505933 0.23649 Admin - - - - - -
1 Unknown g.4559901C>T dbSNP chr1_000049 rs4654438 0.47635 Admin - - - - - -
1 Unknown g.4561165A>C dbSNP chr1_000051 rs676853 0.86993 Admin - - - - - -
1 Unknown g.4562045C>T dbSNP chr1_000053 rs583027 0.13514 Admin - - - - - -
1 Unknown g.4564684C>T dbSNP chr1_000055 rs350165 0.12500 Admin - - - - - -
1 Unknown g.4582199C>T dbSNP chr1_000074 rs10489135 0.82432 Admin - - - - - -
1 Unknown g.4620996A>C dbSNP chr1_000095 rs12120353 0.78885 Admin - - - - - -
1 Unknown g.4631266A>C dbSNP chr1_000102 rs241212 0.67399 Admin - - - - - -
1 Unknown g.4652284C>T dbSNP chr1_000112 rs17349020 0.18074 Admin - - - - - -
1 Unknown g.4814751A>G dbSNP AJAP1_000001 rs3766969 0.76014 Admin AJAP1 ./. - NM_018836.3:c.830-15162A>G - - -
1 Unknown g.4844823A>G dbSNP chr1_000346 rs41355644 0.53547 Admin - - - - - -
1 Unknown g.4964005C>T dbSNP chr1_000128 rs1980722 0.61486 Admin - - - - - -
1 Unknown g.5206639A>G dbSNP chr1_000153 rs4345839 0.71453 Admin - - - - - -
1 Unknown g.5195371C>T dbSNP chr1_000153 rs10492925 0.74493 Admin - - - - - -
1 Unknown g.5195251C>T dbSNP chr1_000178 rs12409689 0.89358 Admin - - - - - -
1 Unknown g.5193673A>G dbSNP chr1_000180 rs9439505 0.77196 Admin - - - - - -
1 Unknown g.5193116C>T dbSNP chr1_000184 rs10492924 0.04054 Admin - - - - - -
1 Unknown g.5193026C>T dbSNP chr1_000185 rs10492923 0.89189 Admin - - - - - -
1 Unknown g.5183812C>T dbSNP chr1_000186 rs4949166 0.17568 Admin - - - - - -
1 Unknown g.5134631A>G dbSNP chr1_000191 rs1599169 0.95439 Admin - - - - - -
1 Unknown g.5090715C>T dbSNP chr1_000210 rs1459764 0.70270 Admin - - - - - -
1 Unknown g.5088994C>T dbSNP chr1_000221 rs720318 0.09628 Admin - - - - - -
1 Unknown g.5341464A>G dbSNP chr1_000222 rs17423547 0.26351 Admin - - - - - -
1 Unknown g.5341232A>G dbSNP chr1_000247 rs10492935 0.07432 Admin - - - - - -
1 Unknown g.5258556C>T dbSNP chr1_000165 rs2722782 0.13682 Admin - - - - - -
1 Unknown g.5253664A>G dbSNP chr1_000177 rs7536712 0.66216 Admin - - - - - -
1 Unknown g.5253545A>T dbSNP chr1_000176 rs10492932 0.15878 Admin - - - - - -
1 Unknown g.5253532A>G dbSNP chr1_000175 rs12083008 0.16554 Admin - - - - - -
1 Unknown g.5594737C>T dbSNP chr1_000265 rs2153900 0.20777 Admin - - - - - -
1 Unknown g.5611729A>C dbSNP chr1_000275 rs2211417 0.87669 Admin - - - - - -
1 Unknown g.5686132A>G dbSNP chr1_000290 rs1775401 0.22804 Admin - - - - - -
1 Unknown g.5706560A>G dbSNP chr1_000299 rs17467353 0.04054 Admin - - - - - -
1 Unknown g.5706597G>T dbSNP chr1_000300 rs17427125 0.03041 Admin - - - - - -
1 Unknown g.5707162A>G dbSNP chr1_000301 rs971814 0.57939 Admin - - - - - -
1 Unknown g.5707224C>T dbSNP chr1_000302 rs1499396 0.96453 Admin - - - - - -
1 Unknown g.5710443A>G dbSNP chr1_000307 rs707586 0.17736 Admin - - - - - -
1 Unknown g.5736682A>G dbSNP chr1_000315 rs707593 0.56250 Admin - - - - - -
1 Unknown g.5738500A>G dbSNP chr1_000316 rs10492948 0.93750 Admin - - - - - -
1 Unknown g.6006572A>G dbSNP NPHP4_000001 rs10492950 0.97635 Admin NPHP4 ./. - NM_015102.2:c.1119+592T>C - - -
1 Unknown g.6343825A>G dbSNP ACOT7_000001 rs10489535 0.94764 Admin ACOT7 ./. - NM_007274.3:c.830-2479T>C - - -
1 Unknown g.6344153C>G dbSNP ACOT7_000002 rs6682058 0.80912 Admin ACOT7 ./. - NM_007274.3:c.830-2807G>C - - -
1 Unknown g.6355065C>G dbSNP ACOT7_000004 rs35553413 0.85642 Admin ACOT7 ./. - NM_007274.3:c.713-25G>C - - -
1 Unknown g.6742281C>T dbSNP DNAJC11_000001 rs156985 0.25676 Admin DNAJC11 ./. - NM_018198.3:c.73-1184G>A - r.(=) p.(=)
1 Unknown g.6944804C>T dbSNP CAMTA1_000001 rs950493 0.86486 Admin CAMTA1 ./. - NM_015215.2:c.234+59534C>T - - -
1 Unknown g.6990491C>T dbSNP CAMTA1_000058 rs41447147 0.98480 Admin CAMTA1 ./. - NM_015215.2:c.234+105221C>T - - -
1 Unknown g.7145417C>T dbSNP CAMTA1_000002 rs7511741 0.87500 Admin CAMTA1 ./. - NM_015215.2:c.235-5947C>T - - -
1 Unknown g.7425064A>G dbSNP CAMTA1_000007 rs1418489 0.11318 Admin CAMTA1 ./. - NM_015215.2:c.439-102826A>G - r.(=) p.(=)
1 Unknown g.7433862A>G dbSNP CAMTA1_000029 rs845218 0.88176 Admin CAMTA1 ./. - NM_015215.2:c.439-94028A>G - - -
1 Unknown g.7460433C>T dbSNP CAMTA1_000066 rs2097518 0.68412 Admin CAMTA1 ./. - NM_015215.2:c.439-67457C>T - - -
1 Unknown g.7637979A>G dbSNP CAMTA1_000011 rs10492961 0.35304 Admin CAMTA1 ./. - NM_015215.2:c.511-62481A>G - - -
1 Unknown g.7689389A>G dbSNP CAMTA1_000083 rs10495758 0.22297 Admin CAMTA1 ./. - NM_015215.2:c.511-11071A>G - - -
1 Unknown g.7818318A>C dbSNP CAMTA1_000015 rs12093175 0.96115 Admin CAMTA1 ./. - NM_015215.2:c.4989+2590A>C - - -
1 Unknown g.7931588A>C dbSNP chr1_000381 rs228721 0.80236 Admin - - - - - -
1 Unknown g.7956573C>T dbSNP chr1_000389 rs41528652 0.75000 Admin - - - - - -
1 Unknown g.7999602A>G dbSNP TNFRSF9_000008 rs161811 0.87500 Admin TNFRSF9 ./. - NM_001561.5:c.100+353T>C - - -
1 Unknown g.8100140C>T dbSNP chr1_000393 rs10489451 0.02534 Admin - - - - - -
1 Unknown g.8468372A>T dbSNP RERE_000002 rs301791 0.73818 Admin RERE ./. - NM_001042681.1:c.1284+14415T>A - r.(=) p.(=)
1 Unknown g.8495519A>G dbSNP RERE_000019 rs17032575 0.01351 Admin RERE ./. - NM_001042681.1:c.1204-12652T>C - r.(=) p.(=)
1 Unknown g.8495590C>T dbSNP RERE_000022 rs172531 0.74155 Admin RERE ./. - NM_001042681.1:c.1204-12723G>A - - -
1 Unknown g.8495945A>G dbSNP RERE_000025 rs301801 0.26689 Admin RERE ./. - NM_001042681.1:c.1204-13078T>C - - -
1 Unknown g.8644007C>T dbSNP RERE_000001 rs7537982 0.58446 Admin RERE ./. - NM_001042681.1:c.523-26425G>A - r.(=) p.(=)
1 Unknown g.8810341A>G dbSNP RERE_000003 rs10492963 0.76014 Admin RERE ./. - NM_001042681.1:c.-145+66878T>C - - -
1 Unknown g.9003178C>T dbSNP chr1_000418 rs6684149 0.03209 Admin - - - - - -
1 Unknown g.9127458A>T dbSNP SLC2A5_000001 rs3765962 0.73311 Admin SLC2A5 ./. - NM_003039.2:c.33+2105T>A - - -
1 Unknown g.9177317C>T dbSNP GPR157_000004 rs1705299 0.24493 Admin GPR157 ./. - NM_024980.4:c.384-5769G>A - - -
1 Unknown g.9285721C>T dbSNP chr1_000422 rs10489436 0.81250 Admin - - - - - -
1 Unknown g.9950140A>G dbSNP CTNNBIP1_000001 rs946276 0.97635 Admin CTNNBIP1 ./. - NM_020248.2:c.-143-6344T>C - - -
1 Unknown g.10345772A>G dbSNP KIF1B_000001 rs12120191 0.34797 Admin KIF1B ./. - NM_015074.3:c.1296+3181A>G - - -
1 Unknown g.10346810C>T dbSNP KIF1B_000002 rs746881 0.61993 Admin KIF1B ./. - NM_015074.3:c.1296+4219C>T - - -
1 Unknown g.10353112A>G dbSNP KIF1B_000004 rs10492972 0.33953 Admin KIF1B ./. - NM_015074.3:c.1452+932A>G - - -
1 Unknown g.10387704A>T dbSNP KIF1B_000009 rs4333852 0.60304 Admin KIF1B ./. - NM_015074.3:c.2786+1287A>T - r.(=) p.(=)
1 Unknown g.10387788A>G dbSNP KIF1B_000010 rs4475756 0.36824 Admin KIF1B ./. - NM_015074.3:c.2786+1371A>G - r.(=) p.(=)
1 Unknown g.10573304C>T dbSNP PEX14_000001 rs17035111 0.49155 Admin PEX14 ./. - NM_004565.2:c.84+17926C>T - r.(=) p.(=)
1 Unknown g.10593296G>T dbSNP PEX14_000008 rs2480782 0.10473 Admin PEX14 ./. - NM_004565.2:c.85-2974G>T - r.(=) p.(=)
1 Unknown g.10801585C>T dbSNP CASZ1_000001 rs4845843 0.18243 Admin CASZ1 ./. - NM_017766.4:c.-77+19173G>A - - -
1 Unknown g.10832861C>T dbSNP CASZ1_000009 rs205474 0.64696 Admin CASZ1 ./. - NM_017766.4:c.-233-11947G>A - r.(=) p.(=)
1 Unknown g.10887923A>G dbSNP chr1_000567 rs539790 0.92230 Admin - - - - - -
1 Unknown g.11248237C>T dbSNP MTOR_000001 rs12122678 0.05236 Admin MTOR ./. - NM_004958.3:c.4253+11078G>A - r.(=) p.(=)
1 Unknown g.11289161A>G dbSNP MTOR_000009 rs2076655 0.32939 Admin MTOR ./. - NM_004958.3:c.2780-186T>C - - -
1 Unknown g.11388733A>T dbSNP chr1_000449 rs17036666 0.94595 Admin - - - - - -
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