rs121912746

Orientation

minus

Stabilized

minus

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

Make rs121912746(C;T)

Make rs121912746(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44255259

Gene

SLC4A1

is a	snp
is	mentioned by
dbSNP	rs121912746
dbSNP (classic)	rs121912746
ClinGen	rs121912746
ebi	rs121912746
HLI	rs121912746
Exac	rs121912746
Gnomad	rs121912746
Varsome	rs121912746
LitVar	rs121912746
Map	rs121912746
PheGenI	rs121912746
Biobank	rs121912746
1000 genomes	rs121912746
hgdp	rs121912746
ensembl	rs121912746
geneview	rs121912746
scholar	rs121912746
google	rs121912746
pharmgkb	rs121912746
gwascentral	rs121912746
openSNP	rs121912746
23andMe	rs121912746
SNPshot	rs121912746
SNPdbe	rs121912746
MSV3d	rs121912746
GWAS Ctlg	rs121912746

Max Magnitude

0

OMIM	109270
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121912746(T;T)
Alt	rs121912746(T;T)
Reference	Rs121912746(C;C)
Significance	Pathogenic
Disease	Renal tubular acidosis
Variation	info
Gene	SLC4A1
CLNDBN	Renal tubular acidosis, distal, autosomal dominant
Reversed	1
HGVS	NC_000017.10:g.42332627G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019342.24,