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rs587777496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777496(A;G)
Make rs587777496(G;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position228149857
GeneGJC2
is asnp
is mentioned by
dbSNPrs587777496
dbSNP (classic)rs587777496
ClinGenrs587777496
ebirs587777496
HLIrs587777496
Exacrs587777496
Gnomadrs587777496
Varsomers587777496
LitVarrs587777496
Maprs587777496
PheGenIrs587777496
Biobankrs587777496
1000 genomesrs587777496
hgdprs587777496
ensemblrs587777496
geneviewrs587777496
scholarrs587777496
googlers587777496
pharmgkbrs587777496
gwascentralrs587777496
openSNPrs587777496
23andMers587777496
SNPshotrs587777496
SNPdbers587777496
MSV3drs587777496
GWAS Ctlgrs587777496
Max Magnitude0
ClinVar
Risk rs587777496(G;G)
Alt rs587777496(G;G)
Reference Rs587777496(A;A)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene GJC2
CLNDBN Leukodystrophy, hypomyelinating, 2
Reversed 0
HGVS NC_000001.10:g.228337558A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000128464.4,