rs121918644

Orientation

minus

Stabilized

minus

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

Make rs121918644(A;G)

Make rs121918644(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

158685229

Gene

SPTA1

is a	snp
is	mentioned by
dbSNP	rs121918644
dbSNP (classic)	rs121918644
ClinGen	rs121918644
ebi	rs121918644
HLI	rs121918644
Exac	rs121918644
Gnomad	rs121918644
Varsome	rs121918644
LitVar	rs121918644
Map	rs121918644
PheGenI	rs121918644
Biobank	rs121918644
1000 genomes	rs121918644
hgdp	rs121918644
ensembl	rs121918644
geneview	rs121918644
scholar	rs121918644
google	rs121918644
pharmgkb	rs121918644
gwascentral	rs121918644
openSNP	rs121918644
23andMe	rs121918644
SNPshot	rs121918644
SNPdbe	rs121918644
MSV3d	rs121918644
GWAS Ctlg	rs121918644

Max Magnitude

0

OMIM	182860
Desc
Variant	0017
Related	also

ClinVar
Risk	rs121918644(G;G)
Alt	rs121918644(G;G)
Reference	Rs121918644(A;A)
Significance	Pathogenic
Disease	Hereditary pyropoikilocytosis
Variation	info
Gene	SPTA1
CLNDBN	Hereditary pyropoikilocytosis
Reversed	1
HGVS	NC_000001.10:g.158655019T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013716.25,