rs121912753

Orientation

minus

Stabilized

minus

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

Make rs121912753(C;C)

Make rs121912753(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44251583

Gene

SLC4A1

is a	snp
is	mentioned by
dbSNP	rs121912753
dbSNP (classic)	rs121912753
ClinGen	rs121912753
ebi	rs121912753
HLI	rs121912753
Exac	rs121912753
Gnomad	rs121912753
Varsome	rs121912753
LitVar	rs121912753
Map	rs121912753
PheGenI	rs121912753
Biobank	rs121912753
1000 genomes	rs121912753
hgdp	rs121912753
ensembl	rs121912753
geneview	rs121912753
scholar	rs121912753
google	rs121912753
pharmgkb	rs121912753
gwascentral	rs121912753
openSNP	rs121912753
23andMe	rs121912753
SNPshot	rs121912753
SNPdbe	rs121912753
MSV3d	rs121912753
GWAS Ctlg	rs121912753

Max Magnitude

0

OMIM	109270
Desc
Variant	0026
Related	also

ClinVar
Risk	rs121912753(C;C)
Alt	rs121912753(C;C)
Reference	Rs121912753(T;T)
Significance	Pathogenic
Disease	Renal tubular acidosis
Variation	info
Gene	SLC4A1
CLNDBN	Renal tubular acidosis, distal, with normal red cell morphology
Reversed	1
HGVS	NC_000017.10:g.42328951A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019356.28,