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rs74315313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315313(C;T)
Make rs74315313(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position228158476
GeneGJC2
is asnp
is mentioned by
dbSNPrs74315313
ebirs74315313
HLIrs74315313
Exacrs74315313
Varsomers74315313
Maprs74315313
PheGenIrs74315313
hapmaprs74315313
1000 genomesrs74315313
hgdprs74315313
ensemblrs74315313
gopubmedrs74315313
geneviewrs74315313
scholarrs74315313
googlers74315313
pharmgkbrs74315313
gwascentralrs74315313
openSNPrs74315313
23andMers74315313
23andMe allrs74315313
SNP Nexus

SNPshotrs74315313
SNPdbers74315313
MSV3drs74315313
GWAS Ctlgrs74315313
Max Magnitude0
OMIM608803
Desc
Variant0004
Relatedalso
ClinVar
Risk rs74315313(T;T)
Alt rs74315313(T;T)
Reference rs74315313(C;C)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene GJC2
CLNDBN Leukodystrophy, hypomyelinating, 2
Reversed 0
HGVS NC_000001.10:g.228346177C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002155.3,