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rs764670582

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs764670582(A;A)
Make rs764670582(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position121447563
GeneGJA1
is asnp
is mentioned by
dbSNPrs764670582
ebirs764670582
HLIrs764670582
Exacrs764670582
Varsomers764670582
Maprs764670582
PheGenIrs764670582
hapmaprs764670582
1000 genomesrs764670582
hgdprs764670582
ensemblrs764670582
gopubmedrs764670582
geneviewrs764670582
scholarrs764670582
googlers764670582
pharmgkbrs764670582
gwascentralrs764670582
openSNPrs764670582
23andMers764670582
23andMe allrs764670582
SNP Nexus

SNPshotrs764670582
SNPdbers764670582
MSV3drs764670582
GWAS Ctlgrs764670582
Max Magnitude0
ClinVar
Risk rs764670582(A;A)
Alt rs764670582(A;A)
Reference rs764670582(G;G)
Significance Pathogenic
Disease Craniometaphyseal dysplasia
Variation info
Gene GJA1
CLNDBN Craniometaphyseal dysplasia, autosomal recessive type
Reversed 0
HGVS NC_000006.11:g.121768709G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000185622.2,