rs7418956

Orientation

plus

Stabilized

plus

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

Make rs7418956(G;T)

Make rs7418956(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

158662793

Gene

SPTA1

is a	snp
is	mentioned by
dbSNP	rs7418956
dbSNP (classic)	rs7418956
ClinGen	rs7418956
ebi	rs7418956
HLI	rs7418956
Exac	rs7418956
Gnomad	rs7418956
Varsome	rs7418956
LitVar	rs7418956
Map	rs7418956
PheGenI	rs7418956
Biobank	rs7418956
1000 genomes	rs7418956
hgdp	rs7418956
ensembl	rs7418956
geneview	rs7418956
scholar	rs7418956
google	rs7418956
pharmgkb	rs7418956
gwascentral	rs7418956
openSNP	rs7418956
23andMe	rs7418956
SNPshot	rs7418956
SNPdbe	rs7418956
MSV3d	rs7418956
GWAS Ctlg	rs7418956

GMAF

0.0124

Max Magnitude

0

OMIM	182860
Desc	ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
Variant	0018
Related	also

?	(G;G) (G;T)

ClinVar
Risk	rs7418956(T;T)
Alt	rs7418956(T;T)
Reference	Rs7418956(G;G)
Significance	Pathogenic
Disease	Elliptocytosis 2 Elliptocytosis Hereditary pyropoikilocytosis Spherocytosis
Variation	info
Gene	SPTA1
CLNDBN	Elliptocytosis 2 Elliptocytosis Hereditary pyropoikilocytosis Spherocytosis, Recessive
Reversed	0
HGVS	NC_000001.10:g.158632583G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013717.18, RCV000310682.1, RCV000345657.1, RCV000404574.1,