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rs74315311

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315311(C;C)
Make rs74315311(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position228158615
GeneGJC2
is asnp
is mentioned by
dbSNPrs74315311
ebirs74315311
HLIrs74315311
Exacrs74315311
Varsomers74315311
Maprs74315311
PheGenIrs74315311
hapmaprs74315311
1000 genomesrs74315311
hgdprs74315311
ensemblrs74315311
gopubmedrs74315311
geneviewrs74315311
scholarrs74315311
googlers74315311
pharmgkbrs74315311
gwascentralrs74315311
openSNPrs74315311
23andMers74315311
23andMe allrs74315311
SNP Nexus

SNPshotrs74315311
SNPdbers74315311
MSV3drs74315311
GWAS Ctlgrs74315311
Max Magnitude0
OMIM608803
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315311(C;C)
Alt rs74315311(C;C)
Reference rs74315311(T;T)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene GJC2
CLNDBN Leukodystrophy, hypomyelinating, 2
Reversed 0
HGVS NC_000001.10:g.228346316T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002152.3,