rs121918643

Orientation

minus

Stabilized

minus

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

Make rs121918643(C;C)

Make rs121918643(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

158680641

Gene

SPTA1

is a	snp
is	mentioned by
dbSNP	rs121918643
dbSNP (classic)	rs121918643
ClinGen	rs121918643
ebi	rs121918643
HLI	rs121918643
Exac	rs121918643
Gnomad	rs121918643
Varsome	rs121918643
LitVar	rs121918643
Map	rs121918643
PheGenI	rs121918643
Biobank	rs121918643
1000 genomes	rs121918643
hgdp	rs121918643
ensembl	rs121918643
geneview	rs121918643
scholar	rs121918643
google	rs121918643
pharmgkb	rs121918643
gwascentral	rs121918643
openSNP	rs121918643
23andMe	rs121918643
SNPshot	rs121918643
SNPdbe	rs121918643
MSV3d	rs121918643
GWAS Ctlg	rs121918643

GMAF

0.0009183

Max Magnitude

0

OMIM	182860
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121918643(C;C)
Alt	rs121918643(C;C)
Reference	Rs121918643(T;T)
Significance	Pathogenic
Disease	Hereditary pyropoikilocytosis Elliptocytosis 2
Variation	info
Gene	SPTA1
CLNDBN	Hereditary pyropoikilocytosis Elliptocytosis 2
Reversed	1
HGVS	NC_000001.10:g.158650431A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013714.24, RCV000013715.23,