rs121912752

Orientation

minus

Stabilized

minus

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

Make rs121912752(-;-)

Make rs121912752(-;GTG)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44251264

Gene

SLC4A1

is a	snp
is	mentioned by
dbSNP	rs121912752
dbSNP (classic)	rs121912752
ClinGen	rs121912752
ebi	rs121912752
HLI	rs121912752
Exac	rs121912752
Gnomad	rs121912752
Varsome	rs121912752
LitVar	rs121912752
Map	rs121912752
PheGenI	rs121912752
Biobank	rs121912752
1000 genomes	rs121912752
hgdp	rs121912752
ensembl	rs121912752
geneview	rs121912752
scholar	rs121912752
google	rs121912752
pharmgkb	rs121912752
gwascentral	rs121912752
openSNP	rs121912752
23andMe	rs121912752
SNPshot	rs121912752
SNPdbe	rs121912752
MSV3d	rs121912752
GWAS Ctlg	rs121912752

Max Magnitude

0

OMIM	109270
Desc
Variant	0021
Related	also

ClinVar
Risk	rs121912752(-;-)
Alt	rs121912752(-;-)
Reference	Rs121912752(GTG;GTG)
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.42328632_42328634delCAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019349.27,