rs121918639

Orientation

minus

Stabilized

minus

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

Make rs121918639(C;T)

Make rs121918639(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

158685227

Gene

SPTA1

is a	snp
is	mentioned by
dbSNP	rs121918639
dbSNP (classic)	rs121918639
ClinGen	rs121918639
ebi	rs121918639
HLI	rs121918639
Exac	rs121918639
Gnomad	rs121918639
Varsome	rs121918639
LitVar	rs121918639
Map	rs121918639
PheGenI	rs121918639
Biobank	rs121918639
1000 genomes	rs121918639
hgdp	rs121918639
ensembl	rs121918639
geneview	rs121918639
scholar	rs121918639
google	rs121918639
pharmgkb	rs121918639
gwascentral	rs121918639
openSNP	rs121918639
23andMe	rs121918639
SNPshot	rs121918639
SNPdbe	rs121918639
MSV3d	rs121918639
GWAS Ctlg	rs121918639

Max Magnitude

0

OMIM	182860
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121918639(T;T)
Alt	rs121918639(T;T)
Reference	Rs121918639(C;C)
Significance	Pathogenic
Disease	Elliptocytosis 2
Variation	info
Gene	SPTA1
CLNDBN	Elliptocytosis 2
Reversed	1
HGVS	NC_000001.10:g.158655017G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013705.24,