rs137853249

Orientation

plus

Stabilized

plus

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

Make rs137853249(C;C)

Make rs137853249(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

69384348

Gene

HK1

is a	snp
is	mentioned by
dbSNP	rs137853249
dbSNP (classic)	rs137853249
ClinGen	rs137853249
ebi	rs137853249
HLI	rs137853249
Exac	rs137853249
Gnomad	rs137853249
Varsome	rs137853249
LitVar	rs137853249
Map	rs137853249
PheGenI	rs137853249
Biobank	rs137853249
1000 genomes	rs137853249
hgdp	rs137853249
ensembl	rs137853249
geneview	rs137853249
scholar	rs137853249
google	rs137853249
pharmgkb	rs137853249
gwascentral	rs137853249
openSNP	rs137853249
23andMe	rs137853249
SNPshot	rs137853249
SNPdbe	rs137853249
MSV3d	rs137853249
GWAS Ctlg	rs137853249

Max Magnitude

0

OMIM	142600
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137853249(C;C)
Alt	rs137853249(C;C)
Reference	Rs137853249(T;T)
Significance	Pathogenic
Disease	Hemolytic anemia due to hexokinase deficiency
Variation	info
Gene	HK1
CLNDBN	Hemolytic anemia due to hexokinase deficiency
Reversed	0
HGVS	NC_000010.10:g.71144104T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016051.26,