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rs28931601

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28931601(A;A)
Make rs28931601(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position121447133
GeneGJA1
is asnp
is mentioned by
dbSNPrs28931601
ebirs28931601
HLIrs28931601
Exacrs28931601
Varsomers28931601
Maprs28931601
PheGenIrs28931601
hapmaprs28931601
1000 genomesrs28931601
hgdprs28931601
ensemblrs28931601
gopubmedrs28931601
geneviewrs28931601
scholarrs28931601
googlers28931601
pharmgkbrs28931601
gwascentralrs28931601
openSNPrs28931601
23andMers28931601
23andMe allrs28931601
SNP Nexus

SNPshotrs28931601
SNPdbers28931601
MSV3drs28931601
GWAS Ctlgrs28931601
Max Magnitude0
OMIM121014
DescOCULODENTODIGITAL DYSPLASIA
Variant0009
Relatedalso
Neighborrs28931600
Distance141


ClinVar
Risk rs28931601(A;A)
Alt rs28931601(A;A)
Reference rs28931601(G;G)
Significance Pathogenic
Disease Oculodentodigital dysplasia
Variation info
Gene GJA1
CLNDBN Oculodentodigital dysplasia
Reversed 0
HGVS NC_000006.11:g.121768279G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018509.29,