rs121908857

Orientation

plus

Stabilized

plus

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

Make rs121908857(A;A)

Make rs121908857(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

71472728

Gene

SLC4A4

is a	snp
is	mentioned by
dbSNP	rs121908857
dbSNP (classic)	rs121908857
ClinGen	rs121908857
ebi	rs121908857
HLI	rs121908857
Exac	rs121908857
Gnomad	rs121908857
Varsome	rs121908857
LitVar	rs121908857
Map	rs121908857
PheGenI	rs121908857
Biobank	rs121908857
1000 genomes	rs121908857
hgdp	rs121908857
ensembl	rs121908857
geneview	rs121908857
scholar	rs121908857
google	rs121908857
pharmgkb	rs121908857
gwascentral	rs121908857
openSNP	rs121908857
23andMe	rs121908857
SNPshot	rs121908857
SNPdbe	rs121908857
MSV3d	rs121908857
GWAS Ctlg	rs121908857

Max Magnitude

0

OMIM	603345
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908857(A;A)
Alt	rs121908857(A;A)
Reference	Rs121908857(G;G)
Significance	Pathogenic
Disease	Renal tubular acidosis
Variation	info
Gene	SLC4A4
CLNDBN	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
Reversed	0
HGVS	NC_000004.11:g.72338445G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006845.2,