rs121912750

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs121912750(A;G)

Make rs121912750(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44251305

Gene

SLC4A1

is a	snp
is	mentioned by
dbSNP	rs121912750
dbSNP (classic)	rs121912750
ClinGen	rs121912750
ebi	rs121912750
HLI	rs121912750
Exac	rs121912750
Gnomad	rs121912750
Varsome	rs121912750
LitVar	rs121912750
Map	rs121912750
PheGenI	rs121912750
Biobank	rs121912750
1000 genomes	rs121912750
hgdp	rs121912750
ensembl	rs121912750
geneview	rs121912750
scholar	rs121912750
google	rs121912750
pharmgkb	rs121912750
gwascentral	rs121912750
openSNP	rs121912750
23andMe	rs121912750
SNPshot	rs121912750
SNPdbe	rs121912750
MSV3d	rs121912750
GWAS Ctlg	rs121912750

Max Magnitude

0

OMIM	109270
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121912750(G;G)
Alt	rs121912750(G;G)
Reference	Rs121912750(A;A)
Significance	Pathogenic
Disease	Spherocytosis type 4
Variation	info
Gene	SLC4A1
CLNDBN	Spherocytosis type 4
Reversed	1
HGVS	NC_000017.10:g.42328673T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019347.24,