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rs387906616

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906616(C;T)
Make rs387906616(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position121446878
GeneGJA1
is asnp
is mentioned by
dbSNPrs387906616
ebirs387906616
HLIrs387906616
Exacrs387906616
Varsomers387906616
Maprs387906616
PheGenIrs387906616
hapmaprs387906616
1000 genomesrs387906616
hgdprs387906616
ensemblrs387906616
gopubmedrs387906616
geneviewrs387906616
scholarrs387906616
googlers387906616
pharmgkbrs387906616
gwascentralrs387906616
openSNPrs387906616
23andMers387906616
23andMe allrs387906616
SNP Nexus

SNPshotrs387906616
SNPdbers387906616
MSV3drs387906616
GWAS Ctlgrs387906616
Max Magnitude0
ClinVar
Risk rs387906616(T;T)
Alt rs387906616(T;T)
Reference rs387906616(C;C)
Significance Pathogenic
Disease Oculodentodigital dysplasia
Variation info
Gene GJA1
CLNDBN Oculodentodigital dysplasia
Reversed 0
HGVS NC_000006.11:g.121768024C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022517.28,