rs757679761

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(D;D)	0	common genotype

Make rs757679761(-;AAC)

Make rs757679761(AAC;AAC)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

158681595

Gene

SPTA1

is a	snp
is	mentioned by
dbSNP	rs757679761
dbSNP (classic)	rs757679761
ClinGen	rs757679761
ebi	rs757679761
HLI	rs757679761
Exac	rs757679761
Gnomad	rs757679761
Varsome	rs757679761
LitVar	rs757679761
Map	rs757679761
PheGenI	rs757679761
Biobank	rs757679761
1000 genomes	rs757679761
hgdp	rs757679761
ensembl	rs757679761
geneview	rs757679761
scholar	rs757679761
google	rs757679761
pharmgkb	rs757679761
gwascentral	rs757679761
openSNP	rs757679761
23andMe	rs757679761
SNPshot	rs757679761
SNPdbe	rs757679761
MSV3d	rs757679761
GWAS Ctlg	rs757679761

Max Magnitude

0

ClinVar
Risk	rs757679761(CAA;CAA)
Alt	rs757679761(CAA;CAA)
Reference	Rs757679761(-;-)
Significance	Pathogenic
Disease	Elliptocytosis 2
Variation	info
Gene	SPTA1
CLNDBN	Elliptocytosis 2
Reversed	0
HGVS	NC_000001.10:g.158651386_158651388dupCAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013700.18,