rs121918635

Orientation

minus

Stabilized

minus

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

Make rs121918635(A;C)

Make rs121918635(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

158672135

Gene

SPTA1

is a	snp
is	mentioned by
dbSNP	rs121918635
dbSNP (classic)	rs121918635
ClinGen	rs121918635
ebi	rs121918635
HLI	rs121918635
Exac	rs121918635
Gnomad	rs121918635
Varsome	rs121918635
LitVar	rs121918635
Map	rs121918635
PheGenI	rs121918635
Biobank	rs121918635
1000 genomes	rs121918635
hgdp	rs121918635
ensembl	rs121918635
geneview	rs121918635
scholar	rs121918635
google	rs121918635
pharmgkb	rs121918635
gwascentral	rs121918635
openSNP	rs121918635
23andMe	rs121918635
SNPshot	rs121918635
SNPdbe	rs121918635
MSV3d	rs121918635
GWAS Ctlg	rs121918635

Max Magnitude

0

OMIM	182860
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918635(C;C)
Alt	rs121918635(C;C)
Reference	Rs121918635(A;A)
Significance	Pathogenic
Disease	Elliptocytosis 2
Variation	info
Gene	SPTA1
CLNDBN	Elliptocytosis 2
Reversed	1
HGVS	NC_000001.10:g.158641925T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013698.18,