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rs74315314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315314(G;G)
Make rs74315314(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position228158572
GeneGJC2
is asnp
is mentioned by
dbSNPrs74315314
ebirs74315314
HLIrs74315314
Exacrs74315314
Varsomers74315314
Maprs74315314
PheGenIrs74315314
hapmaprs74315314
1000 genomesrs74315314
hgdprs74315314
ensemblrs74315314
gopubmedrs74315314
geneviewrs74315314
scholarrs74315314
googlers74315314
pharmgkbrs74315314
gwascentralrs74315314
openSNPrs74315314
23andMers74315314
23andMe allrs74315314
SNP Nexus

SNPshotrs74315314
SNPdbers74315314
MSV3drs74315314
GWAS Ctlgrs74315314
Max Magnitude0
OMIM608803
Desc
Variant0005
Relatedalso
ClinVar
Risk rs74315314(G;G)
Alt rs74315314(G;G)
Reference rs74315314(T;T)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene GJC2
CLNDBN Leukodystrophy, hypomyelinating, 2
Reversed 0
HGVS NC_000001.10:g.228346273T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002156.3,