rs121918641

Orientation

minus

Stabilized

minus

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

Make rs121918641(G;T)

Make rs121918641(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

158685289

Gene

SPTA1

is a	snp
is	mentioned by
dbSNP	rs121918641
dbSNP (classic)	rs121918641
ClinGen	rs121918641
ebi	rs121918641
HLI	rs121918641
Exac	rs121918641
Gnomad	rs121918641
Varsome	rs121918641
LitVar	rs121918641
Map	rs121918641
PheGenI	rs121918641
Biobank	rs121918641
1000 genomes	rs121918641
hgdp	rs121918641
ensembl	rs121918641
geneview	rs121918641
scholar	rs121918641
google	rs121918641
pharmgkb	rs121918641
gwascentral	rs121918641
openSNP	rs121918641
23andMe	rs121918641
SNPshot	rs121918641
SNPdbe	rs121918641
MSV3d	rs121918641
GWAS Ctlg	rs121918641

Merged from

Rs28934004

GMAF

0.0

Max Magnitude

0

OMIM	182860
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121918641(A;A) rs121918641(T;T)
Alt	rs121918641(A;A) rs121918641(T;T)
Reference	Rs121918641(G;G)
Significance	Pathogenic
Disease	Elliptocytosis 2 Hereditary pyropoikilocytosis not provided
Variation	info
Gene	SPTA1
CLNDBN	Elliptocytosis 2 Hereditary pyropoikilocytosis not provided
Reversed	1
HGVS	NC_000001.10:g.158655079C>A; NC_000001.10:g.158655079C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013707.18, RCV000013712.23, RCV000013713.25, RCV000360212.1,