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rs28931600

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28931600(A;A)
Make rs28931600(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position121447274
GeneGJA1
is asnp
is mentioned by
dbSNPrs28931600
ebirs28931600
HLIrs28931600
Exacrs28931600
Varsomers28931600
Maprs28931600
PheGenIrs28931600
hapmaprs28931600
1000 genomesrs28931600
hgdprs28931600
ensemblrs28931600
gopubmedrs28931600
geneviewrs28931600
scholarrs28931600
googlers28931600
pharmgkbrs28931600
gwascentralrs28931600
openSNPrs28931600
23andMers28931600
23andMe allrs28931600
SNP Nexus

SNPshotrs28931600
SNPdbers28931600
MSV3drs28931600
GWAS Ctlgrs28931600
Max Magnitude0
OMIM121014
DescSYNDACTYLY, TYPE III
Variant0008
Relatedalso
Neighborrs28931601
Distance141


ClinVar
Risk rs28931600(A;A)
Alt rs28931600(A;A)
Reference rs28931600(G;G)
Significance Pathogenic
Disease Syndactyly type 3
Variation info
Gene GJA1
CLNDBN Syndactyly type 3
Reversed 0
HGVS NC_000006.11:g.121768420G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018508.28,