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rs137853583

From SNPedia

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Stabilizedplus
Geno Mag Summary
(A;A) 6.7 Hemolytic anemia due to GPI deficiency
(A;G) 3 Carrier of hemolytic anemia mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position34394044
GeneGPI
is asnp
is mentioned by
dbSNPrs137853583
ClinGenrs137853583
ebirs137853583
HLIrs137853583
Exacrs137853583
Varsomers137853583
Maprs137853583
PheGenIrs137853583
hapmaprs137853583
1000 genomesrs137853583
hgdprs137853583
ensemblrs137853583
gopubmedrs137853583
geneviewrs137853583
scholarrs137853583
googlers137853583
pharmgkbrs137853583
gwascentralrs137853583
openSNPrs137853583
23andMers137853583
23andMe allrs137853583
SNP Nexus

SNPshotrs137853583
SNPdbers137853583
MSV3drs137853583
GWAS Ctlgrs137853583
Max Magnitude6.7

GPI gene,c.1040G>A, p.Arg347His or R347H variant, considered a causative mutation for Hemolytic anemia (hemolysis) when inherited recessively.

See ClinVar, OMIM & [PMID 28223188]

OMIM172400
Desc
Variant0002
Relatedalso
ClinVar
Risk Rs137853583(A;A) rs137853583(T;T)
Alt Rs137853583(A;A) rs137853583(T;T)
Reference Rs137853583(G;G)
Significance Pathogenic
Disease Hemolytic anemia
Variation info
Gene GPI
CLNDBN Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
Reversed 0
HGVS NC_000019.9:g.34884949G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014610.26,