rs121912744

Orientation

minus

Stabilized

minus

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

Make rs121912744(A;A)

Make rs121912744(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44255707

Gene

SLC4A1

is a	snp
is	mentioned by
dbSNP	rs121912744
dbSNP (classic)	rs121912744
ClinGen	rs121912744
ebi	rs121912744
HLI	rs121912744
Exac	rs121912744
Gnomad	rs121912744
Varsome	rs121912744
LitVar	rs121912744
Map	rs121912744
PheGenI	rs121912744
Biobank	rs121912744
1000 genomes	rs121912744
hgdp	rs121912744
ensembl	rs121912744
geneview	rs121912744
scholar	rs121912744
google	rs121912744
pharmgkb	rs121912744
gwascentral	rs121912744
openSNP	rs121912744
23andMe	rs121912744
SNPshot	rs121912744
SNPdbe	rs121912744
MSV3d	rs121912744
GWAS Ctlg	rs121912744

Max Magnitude

0

OMIM	109270
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121912744(A;A)
Alt	rs121912744(A;A)
Reference	Rs121912744(G;G)
Significance	Pathogenic
Disease	Renal tubular acidosis
Variation	info
Gene	SLC4A1
CLNDBN	Renal tubular acidosis, distal, autosomal dominant
Reversed	1
HGVS	NC_000017.10:g.42333075C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019340.28,