rs2482965

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs2482965(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

158649938

Gene

SPTA1

is a	snp
is	mentioned by
dbSNP	rs2482965
dbSNP (classic)	rs2482965
ClinGen	rs2482965
ebi	rs2482965
HLI	rs2482965
Exac	rs2482965
Gnomad	rs2482965
Varsome	rs2482965
LitVar	rs2482965
Map	rs2482965
PheGenI	rs2482965
Biobank	rs2482965
1000 genomes	rs2482965
hgdp	rs2482965
ensembl	rs2482965
geneview	rs2482965
scholar	rs2482965
google	rs2482965
pharmgkb	rs2482965
gwascentral	rs2482965
openSNP	rs2482965
23andMe	rs2482965
SNPshot	rs2482965
SNPdbe	rs2482965
MSV3d	rs2482965
GWAS Ctlg	rs2482965

GMAF

0.003214

Max Magnitude

0

ClinVar
Risk	Rs2482965(C;C)
Alt	Rs2482965(C;C)
Reference	Rs2482965(A;A)
Significance	Probable-non-pathogenic
Disease	not specified Elliptocytosis Spherocytosis Hereditary pyropoikilocytosis
Variation	info
Gene	SPTA1
CLNDBN	not specified Elliptocytosis Spherocytosis, Recessive Hereditary pyropoikilocytosis
Reversed	0
HGVS	NC_000001.10:g.158619728A>C
CLNSRC
CLNACC	RCV000251930.1, RCV000268434.1, RCV000321216.1, RCV000354195.1,