rs121912691

Orientation

plus

Stabilized

plus

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

Make rs121912691(C;C)

Make rs121912691(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

44312653

Gene

SLC3A1

is a	snp
is	mentioned by
dbSNP	rs121912691
dbSNP (classic)	rs121912691
ClinGen	rs121912691
ebi	rs121912691
HLI	rs121912691
Exac	rs121912691
Gnomad	rs121912691
Varsome	rs121912691
LitVar	rs121912691
Map	rs121912691
PheGenI	rs121912691
Biobank	rs121912691
1000 genomes	rs121912691
hgdp	rs121912691
ensembl	rs121912691
geneview	rs121912691
scholar	rs121912691
google	rs121912691
pharmgkb	rs121912691
gwascentral	rs121912691
openSNP	rs121912691
23andMe	rs121912691
SNPshot	rs121912691
SNPdbe	rs121912691
MSV3d	rs121912691
GWAS Ctlg	rs121912691

Merged from

Rs121912692

Max Magnitude

0

OMIM	104614
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912691(A;A) rs121912691(C;C)
Alt	rs121912691(A;A) rs121912691(C;C)
Reference	Rs121912691(T;T)
Significance	Pathogenic
Disease	Cystinuria not provided
Variation	info
Gene	SLC3A1
CLNDBN	Cystinuria not provided
Reversed	0
HGVS	NC_000002.11:g.44539792T>A; NC_000002.11:g.44539792T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019744.27, RCV000019743.27, RCV000413736.1,