rs28931584

Orientation

minus

Stabilized

minus

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

Make rs28931584(A;A)

Make rs28931584(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44257514

Gene

SLC4A1

is a	snp
is	mentioned by
dbSNP	rs28931584
dbSNP (classic)	rs28931584
ClinGen	rs28931584
ebi	rs28931584
HLI	rs28931584
Exac	rs28931584
Gnomad	rs28931584
Varsome	rs28931584
LitVar	rs28931584
Map	rs28931584
PheGenI	rs28931584
Biobank	rs28931584
1000 genomes	rs28931584
hgdp	rs28931584
ensembl	rs28931584
geneview	rs28931584
scholar	rs28931584
google	rs28931584
pharmgkb	rs28931584
gwascentral	rs28931584
openSNP	rs28931584
23andMe	rs28931584
SNPshot	rs28931584
SNPdbe	rs28931584
MSV3d	rs28931584
GWAS Ctlg	rs28931584

Max Magnitude

0

OMIM	109270
Desc	SPHEROCYTOSIS, HEREDITARY
Variant	0022
Related	also

ClinVar
Risk	rs28931584(A;A)
Alt	rs28931584(A;A)
Reference	Rs28931584(G;G)
Significance	Pathogenic
Disease	Spherocytosis type 4 Renal tubular acidosis
Variation	info
Gene	SLC4A1
CLNDBN	Spherocytosis type 4 Renal tubular acidosis, distal, with hemolytic anemia
Reversed	1
HGVS	NC_000017.10:g.42334882C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019350.29, RCV000019351.25,