rs28929480

Orientation

minus

Stabilized

minus

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

Make rs28929480(A;A)

Make rs28929480(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44260716

Gene

SLC4A1

is a	snp
is	mentioned by
dbSNP	rs28929480
dbSNP (classic)	rs28929480
ClinGen	rs28929480
ebi	rs28929480
HLI	rs28929480
Exac	rs28929480
Gnomad	rs28929480
Varsome	rs28929480
LitVar	rs28929480
Map	rs28929480
PheGenI	rs28929480
Biobank	rs28929480
1000 genomes	rs28929480
hgdp	rs28929480
ensembl	rs28929480
geneview	rs28929480
scholar	rs28929480
google	rs28929480
pharmgkb	rs28929480
gwascentral	rs28929480
openSNP	rs28929480
23andMe	rs28929480
SNPshot	rs28929480
SNPdbe	rs28929480
MSV3d	rs28929480
GWAS Ctlg	rs28929480

GMAF

0.0004591

Max Magnitude

0

OMIM	109270
Desc	SPHEROCYTOSIS, HEREDITARY, DUE TO BAND 3 CAPE TOWN
Variant	0023
Related	also

ClinVar
Risk	rs28929480(A;A)
Alt	rs28929480(A;A)
Reference	Rs28929480(G;G)
Significance	Pathogenic
Disease	Spherocytosis type 4
Variation	info
Gene	SLC4A1
CLNDBN	Spherocytosis type 4
Reversed	1
HGVS	NC_000017.10:g.42338084C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019353.24,