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rs587776888

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587776888(A;G)
Make rs587776888(G;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position228149860
GeneGJC2
is asnp
is mentioned by
dbSNPrs587776888
ebirs587776888
HLIrs587776888
Exacrs587776888
Varsomers587776888
Maprs587776888
PheGenIrs587776888
hapmaprs587776888
1000 genomesrs587776888
hgdprs587776888
ensemblrs587776888
gopubmedrs587776888
geneviewrs587776888
scholarrs587776888
googlers587776888
pharmgkbrs587776888
gwascentralrs587776888
openSNPrs587776888
23andMers587776888
23andMe allrs587776888
SNP Nexus

SNPshotrs587776888
SNPdbers587776888
MSV3drs587776888
GWAS Ctlgrs587776888
Max Magnitude0
[PMID 27569544] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar
Risk rs587776888(G;G)
Alt rs587776888(G;G)
Reference Rs587776888(A;A)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene GJC2
CLNDBN Leukodystrophy, hypomyelinating, 2
Reversed 0
HGVS NC_000001.10:g.228337561A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023738.4,