rs137853587

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs137853587(C;C)

Make rs137853587(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

34394020

Gene

GPI

is a	snp
is	mentioned by
dbSNP	rs137853587
dbSNP (classic)	rs137853587
ClinGen	rs137853587
ebi	rs137853587
HLI	rs137853587
Exac	rs137853587
Gnomad	rs137853587
Varsome	rs137853587
LitVar	rs137853587
Map	rs137853587
PheGenI	rs137853587
Biobank	rs137853587
1000 genomes	rs137853587
hgdp	rs137853587
ensembl	rs137853587
geneview	rs137853587
scholar	rs137853587
google	rs137853587
pharmgkb	rs137853587
gwascentral	rs137853587
openSNP	rs137853587
23andMe	rs137853587
SNPshot	rs137853587
SNPdbe	rs137853587
MSV3d	rs137853587
GWAS Ctlg	rs137853587

Max Magnitude

0

OMIM	172400
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137853587(C;C)
Alt	rs137853587(C;C)
Reference	Rs137853587(T;T)
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.34884925T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014615.27,