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rs267606846

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606846(C;T)
Make rs267606846(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position228158536
GeneGJC2
is asnp
is mentioned by
dbSNPrs267606846
dbSNP (classic)rs267606846
ClinGenrs267606846
ebirs267606846
HLIrs267606846
Exacrs267606846
Gnomadrs267606846
Varsomers267606846
LitVarrs267606846
Maprs267606846
PheGenIrs267606846
Biobankrs267606846
1000 genomesrs267606846
hgdprs267606846
ensemblrs267606846
geneviewrs267606846
scholarrs267606846
googlers267606846
pharmgkbrs267606846
gwascentralrs267606846
openSNPrs267606846
23andMers267606846
SNPshotrs267606846
SNPdbers267606846
MSV3drs267606846
GWAS Ctlgrs267606846
Max Magnitude0
ClinVar
Risk rs267606846(T;T)
Alt rs267606846(T;T)
Reference Rs267606846(C;C)
Significance Pathogenic
Disease Lymphedema
Variation info
Gene GJC2
CLNDBN Lymphedema, hereditary, IC
Reversed 0
HGVS NC_000001.10:g.228346237C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002161.4,