rs121912754

Orientation

minus

Stabilized

minus

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

Make rs121912754(C;C)

Make rs121912754(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44255292

Gene

SLC4A1

is a	snp
is	mentioned by
dbSNP	rs121912754
dbSNP (classic)	rs121912754
ClinGen	rs121912754
ebi	rs121912754
HLI	rs121912754
Exac	rs121912754
Gnomad	rs121912754
Varsome	rs121912754
LitVar	rs121912754
Map	rs121912754
PheGenI	rs121912754
Biobank	rs121912754
1000 genomes	rs121912754
hgdp	rs121912754
ensembl	rs121912754
geneview	rs121912754
scholar	rs121912754
google	rs121912754
pharmgkb	rs121912754
gwascentral	rs121912754
openSNP	rs121912754
23andMe	rs121912754
SNPshot	rs121912754
SNPdbe	rs121912754
MSV3d	rs121912754
GWAS Ctlg	rs121912754

Max Magnitude

0

OMIM	109270
Desc
Variant	0027
Related	also

ClinVar
Risk	rs121912754(A;A) rs121912754(C;C)
Alt	rs121912754(A;A) rs121912754(C;C)
Reference	Rs121912754(G;G)
Significance	Pathogenic
Disease	Renal tubular acidosis
Variation	info
Gene	SLC4A1
CLNDBN	Renal tubular acidosis, distal, with hemolytic anemia
Reversed	1
HGVS	NC_000017.10:g.42332660C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019357.28,