rs121918638

Orientation

minus

Stabilized

minus

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

Make rs121918638(G;T)

Make rs121918638(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

158685235

Gene

SPTA1

is a	snp
is	mentioned by
dbSNP	rs121918638
dbSNP (classic)	rs121918638
ClinGen	rs121918638
ebi	rs121918638
HLI	rs121918638
Exac	rs121918638
Gnomad	rs121918638
Varsome	rs121918638
LitVar	rs121918638
Map	rs121918638
PheGenI	rs121918638
Biobank	rs121918638
1000 genomes	rs121918638
hgdp	rs121918638
ensembl	rs121918638
geneview	rs121918638
scholar	rs121918638
google	rs121918638
pharmgkb	rs121918638
gwascentral	rs121918638
openSNP	rs121918638
23andMe	rs121918638
SNPshot	rs121918638
SNPdbe	rs121918638
MSV3d	rs121918638
GWAS Ctlg	rs121918638

Max Magnitude

0

OMIM	182860
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918638(T;T)
Alt	rs121918638(T;T)
Reference	Rs121918638(G;G)
Significance	Pathogenic
Disease	Elliptocytosis 2
Variation	info
Gene	SPTA1
CLNDBN	Elliptocytosis 2
Reversed	1
HGVS	NC_000001.10:g.158655025C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013704.25,