rs121918636

Orientation

minus

Stabilized

minus

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

Make rs121918636(C;C)

Make rs121918636(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

158678432

Gene

SPTA1

is a	snp
is	mentioned by
dbSNP	rs121918636
dbSNP (classic)	rs121918636
ClinGen	rs121918636
ebi	rs121918636
HLI	rs121918636
Exac	rs121918636
Gnomad	rs121918636
Varsome	rs121918636
LitVar	rs121918636
Map	rs121918636
PheGenI	rs121918636
Biobank	rs121918636
1000 genomes	rs121918636
hgdp	rs121918636
ensembl	rs121918636
geneview	rs121918636
scholar	rs121918636
google	rs121918636
pharmgkb	rs121918636
gwascentral	rs121918636
openSNP	rs121918636
23andMe	rs121918636
SNPshot	rs121918636
SNPdbe	rs121918636
MSV3d	rs121918636
GWAS Ctlg	rs121918636

Max Magnitude

0

OMIM	182860
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918636(C;C)
Alt	rs121918636(C;C)
Reference	Rs121918636(T;T)
Significance	Pathogenic
Disease	Elliptocytosis 2
Variation	info
Gene	SPTA1
CLNDBN	Elliptocytosis 2
Reversed	1
HGVS	NC_000001.10:g.158648222A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013701.24,