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rs137853586

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853586(A;C)
Make rs137853586(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position34365325
GeneGPI
is asnp
is mentioned by
dbSNPrs137853586
dbSNP (classic)rs137853586
ClinGenrs137853586
ebirs137853586
HLIrs137853586
Exacrs137853586
Gnomadrs137853586
Varsomers137853586
LitVarrs137853586
Maprs137853586
PheGenIrs137853586
Biobankrs137853586
1000 genomesrs137853586
hgdprs137853586
ensemblrs137853586
geneviewrs137853586
scholarrs137853586
googlers137853586
pharmgkbrs137853586
gwascentralrs137853586
openSNPrs137853586
23andMers137853586
SNPshotrs137853586
SNPdbers137853586
MSV3drs137853586
GWAS Ctlgrs137853586
Max Magnitude0
OMIM172400
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137853586(C;C)
Alt rs137853586(C;C)
Reference Rs137853586(A;A)
Significance Pathogenic
Disease Hemolytic anemia
Variation info
Gene GPI
CLNDBN Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency
Reversed 0
HGVS NC_000019.9:g.34856230A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014614.21,