rs121918634

Orientation

minus

Stabilized

minus

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

Make rs121918634(C;C)

Make rs121918634(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

158678434

Gene

SPTA1

is a	snp
is	mentioned by
dbSNP	rs121918634
dbSNP (classic)	rs121918634
ClinGen	rs121918634
ebi	rs121918634
HLI	rs121918634
Exac	rs121918634
Gnomad	rs121918634
Varsome	rs121918634
LitVar	rs121918634
Map	rs121918634
PheGenI	rs121918634
Biobank	rs121918634
1000 genomes	rs121918634
hgdp	rs121918634
ensembl	rs121918634
geneview	rs121918634
scholar	rs121918634
google	rs121918634
pharmgkb	rs121918634
gwascentral	rs121918634
openSNP	rs121918634
23andMe	rs121918634
SNPshot	rs121918634
SNPdbe	rs121918634
MSV3d	rs121918634
GWAS Ctlg	rs121918634

Max Magnitude

0

OMIM	182860
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918634(C;C) rs121918634(G;G)
Alt	rs121918634(C;C) rs121918634(G;G)
Reference	Rs121918634(T;T)
Significance	Pathogenic
Disease	Elliptocytosis 2 not provided
Variation	info
Gene	SPTA1
CLNDBN	Elliptocytosis 2 not provided
Reversed	1
HGVS	NC_000001.10:g.158648224A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013697.24, RCV000413397.1,