Full data view for gene ACVR1

Information The variants shown are described using the NM_001105.4 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.-183+6824C>A - - - Unknown g.158724552G>T dbSNP ACVR1_000024 rs16842215 0.93750 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.-183+7022T>C - - - Unknown g.158724354A>G dbSNP ACVR1_000023 rs2354936 0.02365 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.-183+10148G>C - r.(=) p.(=) Unknown g.158721228C>G dbSNP ACVR1_000027 rs16842204 0.02703 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.-183+14079G>A - - - Unknown g.158717297C>T dbSNP ACVR1_000026 rs16842190 0.06757 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.-183+14642G>A - r.(=) p.(=) Unknown g.158716734C>T dbSNP ACVR1_000025 rs1036738 0.87500 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.-183+15911T>C - - - Unknown g.158715465A>G dbSNP ACVR1_000031 rs16842179 0.94595 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.-183+15934T>C - - - Unknown g.158715442A>G dbSNP ACVR1_000030 rs4664902 0.02027 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.-182-21458T>G - - - Unknown g.158696529A>C dbSNP ACVR1_000029 rs2883605 0.92061 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.-182-18011T>C - - - Unknown g.158693082A>G dbSNP ACVR1_000028 rs10168000 0.74662 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.-182-12016T>C - - - Unknown g.158687087A>G dbSNP ACVR1_000032 rs16842130 0.97128 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.-182-11919T>G - - - Unknown g.158686990A>C dbSNP ACVR1_000033 rs16842128 0.98818 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.-182-6570T>A - r.(=) p.(=) Unknown g.158681641A>T dbSNP ACVR1_000035 rs16842126 0.04223 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.-8+7680T>C - - - Unknown g.158667217A>G dbSNP ACVR1_000034 rs10497191 0.79223 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.-7-5777G>A - r.(=) p.(=) Unknown g.158661789C>T dbSNP ACVR1_000036 rs7561419 0.03378 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.67+1648C>A - - - Unknown g.158654291G>T dbSNP ACVR1_000022 rs7565550 0.23818 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.67+5407T>G - - - Unknown g.158650532A>C dbSNP ACVR1_000021 rs16842101 0.95270 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.67+7143G>C - r.(=) p.(=) Unknown g.158648796C>G dbSNP ACVR1_000020 rs13426299 0.02872 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.67+8590G>A - r.(=) p.(=) Unknown g.158647349C>T dbSNP ACVR1_000019 rs16842091 0.01689 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.67+9201G>A - - - Unknown g.158646738C>T dbSNP ACVR1_000018 rs6719924 0.78547 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.68-8426G>A - - - Unknown g.158645538C>T dbSNP ACVR1_000017 rs6756964 0.99155 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.68-2128T>C - - - Unknown g.158639240A>G dbSNP ACVR1_000016 rs10497190 0.80405 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.543+838T>C - - - Unknown g.158633805A>G dbSNP ACVR1_000015 rs1146036 0.21959 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.643+1535T>C - - - Unknown g.158629065A>G dbSNP ACVR1_000014 rs1146033 0.06588 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.690T>C - - - Unknown g.158626980A>G dbSNP ACVR1_000013 rs1146031 0.07939 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.790+1937G>A - - - Unknown g.158624943C>T dbSNP ACVR1_000012 rs6741119 0.98649 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.790+2076T>C - - - Unknown g.158624804A>G dbSNP ACVR1_000011 rs10497189 0.07432 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.791-1953T>A - - - Unknown g.158624661A>T dbSNP ACVR1_000010 rs16842025 0.00338 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.791-1693G>A - r.(=) p.(=) Unknown g.158624401C>T dbSNP ACVR1_000009 rs16842023 0.04223 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.791-1596G>A - - - Unknown g.158624304C>T dbSNP ACVR1_000008 rs16842021 0.99662 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1066+538T>A - r.(=) p.(=) Unknown g.158621895A>T dbSNP ACVR1_000007 rs7576214 0.79561 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1066+664T>C - - - Unknown g.158621769A>G dbSNP ACVR1_000006 rs16842019 0.98986 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1066+1077T>G - - - Unknown g.158621356A>C dbSNP ACVR1_000005 rs16842018 0.87669 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1265-11062G>A - r.(=) p.(=) Unknown g.158606144C>T dbSNP ACVR1_000004 rs7595478 0.33784 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1265-10441T>C - - - Unknown g.158605523A>G dbSNP ACVR1_000003 rs1220135 0.02027 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1396-138T>C - - - Unknown g.158594315A>G dbSNP ACVR1_000002 rs3738926 0.98480 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1396-93G>A - r.(=) p.(=) Unknown g.158594270C>T dbSNP ACVR1_000001 rs16842009 0.02703 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
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