rs121912759

Orientation

minus

Stabilized

minus

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

Make rs121912759(C;T)

Make rs121912759(T;T)

Reference

GRCh38 38.1/142

Chromosome

17

Position

44251211

Gene

SLC4A1

is a	snp
is	mentioned by
dbSNP	rs121912759
dbSNP (classic)	rs121912759
ClinGen	rs121912759
ebi	rs121912759
HLI	rs121912759
Exac	rs121912759
Gnomad	rs121912759
Varsome	rs121912759
LitVar	rs121912759
Map	rs121912759
PheGenI	rs121912759
Biobank	rs121912759
1000 genomes	rs121912759
hgdp	rs121912759
ensembl	rs121912759
geneview	rs121912759
scholar	rs121912759
google	rs121912759
pharmgkb	rs121912759
gwascentral	rs121912759
openSNP	rs121912759
23andMe	rs121912759
SNPshot	rs121912759
SNPdbe	rs121912759
MSV3d	rs121912759
GWAS Ctlg	rs121912759

Max Magnitude

0

OMIM	109270
Desc
Variant	0032
Related	also

ClinVar
Risk	rs121912759(T;T)
Alt	rs121912759(T;T)
Reference	Rs121912759(C;C)
Significance	Pathogenic
Disease	Acanthocytosis due to band 3 ht
Variation	info
Gene	SLC4A1
CLNDBN	Acanthocytosis due to band 3 ht
Reversed	1
HGVS	NC_000017.10:g.42328579G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019361.23,