rs121918642

Orientation

minus

Stabilized

minus

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

Make rs121918642(A;A)

Make rs121918642(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

158685290

Gene

SPTA1

is a	snp
is	mentioned by
dbSNP	rs121918642
dbSNP (classic)	rs121918642
ClinGen	rs121918642
ebi	rs121918642
HLI	rs121918642
Exac	rs121918642
Gnomad	rs121918642
Varsome	rs121918642
LitVar	rs121918642
Map	rs121918642
PheGenI	rs121918642
Biobank	rs121918642
1000 genomes	rs121918642
hgdp	rs121918642
ensembl	rs121918642
geneview	rs121918642
scholar	rs121918642
google	rs121918642
pharmgkb	rs121918642
gwascentral	rs121918642
openSNP	rs121918642
23andMe	rs121918642
SNPshot	rs121918642
SNPdbe	rs121918642
MSV3d	rs121918642
GWAS Ctlg	rs121918642

Merged from

Rs28934005

Max Magnitude

0

OMIM	182860
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121918642(A;A) rs121918642(T;T)
Alt	rs121918642(A;A) rs121918642(T;T)
Reference	Rs121918642(C;C)
Significance	Pathogenic
Disease	Elliptocytosis 2 Hereditary pyropoikilocytosis
Variation	info
Gene	SPTA1
CLNDBN	Elliptocytosis 2 Hereditary pyropoikilocytosis
Reversed	1
HGVS	NC_000001.10:g.158655080G>A; NC_000001.10:g.158655080G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013710.25, RCV000013711.24, RCV000013708.18, RCV000013709.25,