rs121918637

Orientation

minus

Stabilized

minus

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

Make rs121918637(G;T)

Make rs121918637(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

158685237

Gene

SPTA1

is a	snp
is	mentioned by
dbSNP	rs121918637
dbSNP (classic)	rs121918637
ClinGen	rs121918637
ebi	rs121918637
HLI	rs121918637
Exac	rs121918637
Gnomad	rs121918637
Varsome	rs121918637
LitVar	rs121918637
Map	rs121918637
PheGenI	rs121918637
Biobank	rs121918637
1000 genomes	rs121918637
hgdp	rs121918637
ensembl	rs121918637
geneview	rs121918637
scholar	rs121918637
google	rs121918637
pharmgkb	rs121918637
gwascentral	rs121918637
openSNP	rs121918637
23andMe	rs121918637
SNPshot	rs121918637
SNPdbe	rs121918637
MSV3d	rs121918637
GWAS Ctlg	rs121918637

Max Magnitude

0

OMIM	182860
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918637(T;T)
Alt	rs121918637(T;T)
Reference	Rs121918637(G;G)
Significance	Pathogenic
Disease	Hereditary pyropoikilocytosis Elliptocytosis 2
Variation	info
Gene	SPTA1
CLNDBN	Hereditary pyropoikilocytosis Elliptocytosis 2
Reversed	1
HGVS	NC_000001.10:g.158655027C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013702.24, RCV000013703.23,