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rs121912970

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912970(C;T)
Make rs121912970(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position121446944
GeneGJA1
is asnp
is mentioned by
dbSNPrs121912970
ebirs121912970
HLIrs121912970
Exacrs121912970
Varsomers121912970
Maprs121912970
PheGenIrs121912970
hapmaprs121912970
1000 genomesrs121912970
hgdprs121912970
ensemblrs121912970
gopubmedrs121912970
geneviewrs121912970
scholarrs121912970
googlers121912970
pharmgkbrs121912970
gwascentralrs121912970
openSNPrs121912970
23andMers121912970
23andMe allrs121912970
SNP Nexus

SNPshotrs121912970
SNPdbers121912970
MSV3drs121912970
GWAS Ctlgrs121912970
Max Magnitude0
OMIM121014
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121912970(T;T)
Alt rs121912970(T;T)
Reference rs121912970(C;C)
Significance Pathogenic
Disease Oculodentodigital dysplasia
Variation info
Gene GJA1
CLNDBN Oculodentodigital dysplasia, autosomal recessive
Reversed 0
HGVS NC_000006.11:g.121768090C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018518.28,