rs28931583

Orientation

minus

Stabilized

minus

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

Make rs28931583(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44258520

Gene

SLC4A1

is a	snp
is	mentioned by
dbSNP	rs28931583
dbSNP (classic)	rs28931583
ClinGen	rs28931583
ebi	rs28931583
HLI	rs28931583
Exac	rs28931583
Gnomad	rs28931583
Varsome	rs28931583
LitVar	rs28931583
Map	rs28931583
PheGenI	rs28931583
Biobank	rs28931583
1000 genomes	rs28931583
hgdp	rs28931583
ensembl	rs28931583
geneview	rs28931583
scholar	rs28931583
google	rs28931583
pharmgkb	rs28931583
gwascentral	rs28931583
openSNP	rs28931583
23andMe	rs28931583
SNPshot	rs28931583
SNPdbe	rs28931583
MSV3d	rs28931583
GWAS Ctlg	rs28931583

GMAF

0.0004591

Max Magnitude

0

OMIM	109270
Desc	SPHEROCYTOSIS, HEREDITARY, DUE TO BAND 3 TUSCALOOSA
Variant	0003
Related	also

ClinVar
Risk	Rs28931583(G;G)
Alt	Rs28931583(G;G)
Reference	Rs28931583(C;C)
Significance	Pathogenic
Disease	Spherocytosis type 4
Variation	info
Gene	SLC4A1
CLNDBN	Spherocytosis type 4
Reversed	1
HGVS	NC_000017.10:g.42335888G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019332.28,