rs121912693

Orientation

plus

Stabilized

plus

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

Make rs121912693(C;C)

Make rs121912693(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

44320614

Gene	PREPL, SLC3A1

is a	snp
is	mentioned by
dbSNP	rs121912693
dbSNP (classic)	rs121912693
ClinGen	rs121912693
ebi	rs121912693
HLI	rs121912693
Exac	rs121912693
Gnomad	rs121912693
Varsome	rs121912693
LitVar	rs121912693
Map	rs121912693
PheGenI	rs121912693
Biobank	rs121912693
1000 genomes	rs121912693
hgdp	rs121912693
ensembl	rs121912693
geneview	rs121912693
scholar	rs121912693
google	rs121912693
pharmgkb	rs121912693
gwascentral	rs121912693
openSNP	rs121912693
23andMe	rs121912693
SNPshot	rs121912693
SNPdbe	rs121912693
MSV3d	rs121912693
GWAS Ctlg	rs121912693

Max Magnitude

0

OMIM	104614
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912693(C;C)
Alt	rs121912693(C;C)
Reference	Rs121912693(T;T)
Significance	Pathogenic
Disease	Cystinuria
Variation	info
Gene	PREPL SLC3A1
CLNDBN	Cystinuria
Reversed	0
HGVS	NC_000002.11:g.44547753T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019745.28,