rs121912751

Orientation

minus

Stabilized

minus

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

Make rs121912751(A;A)

Make rs121912751(A;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44251241

Gene

SLC4A1

is a	snp
is	mentioned by
dbSNP	rs121912751
dbSNP (classic)	rs121912751
ClinGen	rs121912751
ebi	rs121912751
HLI	rs121912751
Exac	rs121912751
Gnomad	rs121912751
Varsome	rs121912751
LitVar	rs121912751
Map	rs121912751
PheGenI	rs121912751
Biobank	rs121912751
1000 genomes	rs121912751
hgdp	rs121912751
ensembl	rs121912751
geneview	rs121912751
scholar	rs121912751
google	rs121912751
pharmgkb	rs121912751
gwascentral	rs121912751
openSNP	rs121912751
23andMe	rs121912751
SNPshot	rs121912751
SNPdbe	rs121912751
MSV3d	rs121912751
GWAS Ctlg	rs121912751

Max Magnitude

0

OMIM	109270
Desc
Variant	0020
Related	also

ClinVar
Risk	rs121912751(A;A)
Alt	rs121912751(A;A)
Reference	Rs121912751(C;C)
Significance	Pathogenic
Disease	Renal tubular acidosis
Variation	info
Gene	SLC4A1
CLNDBN	Renal tubular acidosis, autosomal dominant
Reversed	1
HGVS	NC_000017.10:g.42328609G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019348.27,