rs121912694

Orientation

plus

Stabilized

plus

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

Make rs121912694(A;A)

Make rs121912694(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

44280827

Gene

SLC3A1

is a	snp
is	mentioned by
dbSNP	rs121912694
dbSNP (classic)	rs121912694
ClinGen	rs121912694
ebi	rs121912694
HLI	rs121912694
Exac	rs121912694
Gnomad	rs121912694
Varsome	rs121912694
LitVar	rs121912694
Map	rs121912694
PheGenI	rs121912694
Biobank	rs121912694
1000 genomes	rs121912694
hgdp	rs121912694
ensembl	rs121912694
geneview	rs121912694
scholar	rs121912694
google	rs121912694
pharmgkb	rs121912694
gwascentral	rs121912694
openSNP	rs121912694
23andMe	rs121912694
SNPshot	rs121912694
SNPdbe	rs121912694
MSV3d	rs121912694
GWAS Ctlg	rs121912694

Max Magnitude

0

OMIM	104614
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912694(A;A) rs121912694(T;T)
Alt	rs121912694(A;A) rs121912694(T;T)
Reference	Rs121912694(G;G)
Significance	Pathogenic
Disease	Cystinuria
Variation	info
Gene	SLC3A1
CLNDBN	Cystinuria
Reversed	0
HGVS	NC_000002.11:g.44507966G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019746.26,