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rs587776928

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776928(C;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position120627164
GeneC1GALT1C1
is asnp
is mentioned by
dbSNPrs587776928
dbSNP (classic)rs587776928
ClinGenrs587776928
ebirs587776928
HLIrs587776928
Exacrs587776928
Gnomadrs587776928
Varsomers587776928
LitVarrs587776928
Maprs587776928
PheGenIrs587776928
Biobankrs587776928
1000 genomesrs587776928
hgdprs587776928
ensemblrs587776928
geneviewrs587776928
scholarrs587776928
googlers587776928
pharmgkbrs587776928
gwascentralrs587776928
openSNPrs587776928
23andMers587776928
SNPshotrs587776928
SNPdbers587776928
MSV3drs587776928
GWAS Ctlgrs587776928
Max Magnitude0
ClinVar
Risk Rs587776928(C;C)
Alt Rs587776928(C;C)
Reference Rs587776928(G;G)
Significance Pathogenic
Disease Polyagglutinable erythrocyte syndrome
Variation info
Gene C1GALT1C1
CLNDBN Polyagglutinable erythrocyte syndrome
Reversed 1
HGVS NC_000023.10:g.119761019C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032774.4,