rs121912697

Orientation

plus

Stabilized

plus

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

Make rs121912697(A;A)

Make rs121912697(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

44301076

Gene

SLC3A1

is a	snp
is	mentioned by
dbSNP	rs121912697
dbSNP (classic)	rs121912697
ClinGen	rs121912697
ebi	rs121912697
HLI	rs121912697
Exac	rs121912697
Gnomad	rs121912697
Varsome	rs121912697
LitVar	rs121912697
Map	rs121912697
PheGenI	rs121912697
Biobank	rs121912697
1000 genomes	rs121912697
hgdp	rs121912697
ensembl	rs121912697
geneview	rs121912697
scholar	rs121912697
google	rs121912697
pharmgkb	rs121912697
gwascentral	rs121912697
openSNP	rs121912697
23andMe	rs121912697
SNPshot	rs121912697
SNPdbe	rs121912697
MSV3d	rs121912697
GWAS Ctlg	rs121912697

Max Magnitude

0

OMIM	104614
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121912697(A;A)
Alt	rs121912697(A;A)
Reference	Rs121912697(G;G)
Significance	Pathogenic
Disease	Cystinuria
Variation	info
Gene	SLC3A1
CLNDBN	Cystinuria
Reversed	0
HGVS	NC_000002.11:g.44528215G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019750.27,