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rs864309644

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864309644(G;T)
Make rs864309644(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position121446870
GeneGJA1
is asnp
is mentioned by
dbSNPrs864309644
ebirs864309644
HLIrs864309644
Exacrs864309644
Varsomers864309644
Maprs864309644
PheGenIrs864309644
hapmaprs864309644
1000 genomesrs864309644
hgdprs864309644
ensemblrs864309644
gopubmedrs864309644
geneviewrs864309644
scholarrs864309644
googlers864309644
pharmgkbrs864309644
gwascentralrs864309644
openSNPrs864309644
23andMers864309644
23andMe allrs864309644
SNP Nexus

SNPshotrs864309644
SNPdbers864309644
MSV3drs864309644
GWAS Ctlgrs864309644
Max Magnitude0
ClinVar
Risk rs864309644(T;T)
Alt rs864309644(T;T)
Reference rs864309644(G;G)
Significance Pathogenic
Disease Alopecia congenita keratosis palmoplantaris
Variation info
Gene GJA1
CLNDBN Alopecia congenita keratosis palmoplantaris
Reversed 0
HGVS NC_000006.11:g.121768016G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000185623.4,