Have questions? Visit https://www.reddit.com/r/SNPedia

rs397514734

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514734(A;A)
Make rs397514734(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position228158545
GeneGJC2
is asnp
is mentioned by
dbSNPrs397514734
ebirs397514734
HLIrs397514734
Exacrs397514734
Varsomers397514734
Maprs397514734
PheGenIrs397514734
hapmaprs397514734
1000 genomesrs397514734
hgdprs397514734
ensemblrs397514734
gopubmedrs397514734
geneviewrs397514734
scholarrs397514734
googlers397514734
pharmgkbrs397514734
gwascentralrs397514734
openSNPrs397514734
23andMers397514734
23andMe allrs397514734
SNP Nexus

SNPshotrs397514734
SNPdbers397514734
MSV3drs397514734
GWAS Ctlgrs397514734
Max Magnitude0
ClinVar
Risk rs397514734(A;A)
Alt rs397514734(A;A)
Reference rs397514734(G;G)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene GJC2
CLNDBN Leukodystrophy, hypomyelinating, 2
Reversed 0
HGVS NC_000001.10:g.228346246G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054496.4,