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rs587776528

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776528(C;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position160032009
GenePIGM
is asnp
is mentioned by
dbSNPrs587776528
dbSNP (old)rs587776528
ClinGenrs587776528
ebirs587776528
HLIrs587776528
Exacrs587776528
Gnomadrs587776528
Varsomers587776528
Maprs587776528
PheGenIrs587776528
Biobankrs587776528
1000 genomesrs587776528
hgdprs587776528
ensemblrs587776528
gopubmedrs587776528
geneviewrs587776528
scholarrs587776528
googlers587776528
pharmgkbrs587776528
gwascentralrs587776528
openSNPrs587776528
23andMers587776528
23andMe allrs587776528
SNP Nexus

SNPshotrs587776528
SNPdbers587776528
MSV3drs587776528
GWAS Ctlgrs587776528
Max Magnitude0
[PMID 27569544OA-icon.png] 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 Rs587776528(G;G)
Alt Rs587776528(G;G)
Reference Rs587776528(C;C)
Significance Pathogenic
Disease Glycosylphosphatidylinositol deficiency
Variation info
Gene PIGM
CLNDBN Glycosylphosphatidylinositol deficiency
Reversed 1
HGVS NC_000001.10:g.160001799G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001351.3,