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rs74315312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315312(C;T)
Make rs74315312(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position228158026
GeneGJC2
is asnp
is mentioned by
dbSNPrs74315312
ebirs74315312
HLIrs74315312
Exacrs74315312
Varsomers74315312
Maprs74315312
PheGenIrs74315312
hapmaprs74315312
1000 genomesrs74315312
hgdprs74315312
ensemblrs74315312
gopubmedrs74315312
geneviewrs74315312
scholarrs74315312
googlers74315312
pharmgkbrs74315312
gwascentralrs74315312
openSNPrs74315312
23andMers74315312
23andMe allrs74315312
SNP Nexus

SNPshotrs74315312
SNPdbers74315312
MSV3drs74315312
GWAS Ctlgrs74315312
Max Magnitude0
OMIM608803
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315312(T;T)
Alt rs74315312(T;T)
Reference rs74315312(C;C)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene GJC2
CLNDBN Leukodystrophy, hypomyelinating, 2
Reversed 0
HGVS NC_000001.10:g.228345727C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002153.3,