rs121918640

Orientation

minus

Stabilized

minus

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

Make rs121918640(C;T)

Make rs121918640(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

158685251

Gene

SPTA1

is a	snp
is	mentioned by
dbSNP	rs121918640
dbSNP (classic)	rs121918640
ClinGen	rs121918640
ebi	rs121918640
HLI	rs121918640
Exac	rs121918640
Gnomad	rs121918640
Varsome	rs121918640
LitVar	rs121918640
Map	rs121918640
PheGenI	rs121918640
Biobank	rs121918640
1000 genomes	rs121918640
hgdp	rs121918640
ensembl	rs121918640
geneview	rs121918640
scholar	rs121918640
google	rs121918640
pharmgkb	rs121918640
gwascentral	rs121918640
openSNP	rs121918640
23andMe	rs121918640
SNPshot	rs121918640
SNPdbe	rs121918640
MSV3d	rs121918640
GWAS Ctlg	rs121918640

GMAF

0.0004591

Max Magnitude

0

OMIM	182860
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121918640(A;A) rs121918640(T;T)
Alt	rs121918640(A;A) rs121918640(T;T)
Reference	Rs121918640(C;C)
Significance	Pathogenic
Disease	Elliptocytosis 2
Variation	info
Gene	SPTA1
CLNDBN	Elliptocytosis 2
Reversed	1
HGVS	NC_000001.10:g.158655041G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013706.24,