rs121912745

Orientation

minus

Stabilized

minus

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

Make rs121912745(C;T)

Make rs121912745(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44255708

Gene

SLC4A1

is a	snp
is	mentioned by
dbSNP	rs121912745
dbSNP (classic)	rs121912745
ClinGen	rs121912745
ebi	rs121912745
HLI	rs121912745
Exac	rs121912745
Gnomad	rs121912745
Varsome	rs121912745
LitVar	rs121912745
Map	rs121912745
PheGenI	rs121912745
Biobank	rs121912745
1000 genomes	rs121912745
hgdp	rs121912745
ensembl	rs121912745
geneview	rs121912745
scholar	rs121912745
google	rs121912745
pharmgkb	rs121912745
gwascentral	rs121912745
openSNP	rs121912745
23andMe	rs121912745
SNPshot	rs121912745
SNPdbe	rs121912745
MSV3d	rs121912745
GWAS Ctlg	rs121912745

Merged from

Rs121912747

Max Magnitude

0

OMIM	109270
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121912745(A;A) rs121912745(T;T)
Alt	rs121912745(A;A) rs121912745(T;T)
Reference	Rs121912745(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.42333076G>A; NC_000017.10:g.42333076G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019341.24, RCV000019343.28,