rs121912695

Orientation

plus

Stabilized

plus

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

Make rs121912695(C;G)

Make rs121912695(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

44320536

Gene	PREPL, SLC3A1

is a	snp
is	mentioned by
dbSNP	rs121912695
dbSNP (classic)	rs121912695
ClinGen	rs121912695
ebi	rs121912695
HLI	rs121912695
Exac	rs121912695
Gnomad	rs121912695
Varsome	rs121912695
LitVar	rs121912695
Map	rs121912695
PheGenI	rs121912695
Biobank	rs121912695
1000 genomes	rs121912695
hgdp	rs121912695
ensembl	rs121912695
geneview	rs121912695
scholar	rs121912695
google	rs121912695
pharmgkb	rs121912695
gwascentral	rs121912695
openSNP	rs121912695
23andMe	rs121912695
SNPshot	rs121912695
SNPdbe	rs121912695
MSV3d	rs121912695
GWAS Ctlg	rs121912695

Max Magnitude

0

OMIM	104614
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912695(G;G) rs121912695(T;T)
Alt	rs121912695(G;G) rs121912695(T;T)
Reference	Rs121912695(C;C)
Significance	Pathogenic
Disease	Cystinuria
Variation	info
Gene	PREPL SLC3A1
CLNDBN	Cystinuria
Reversed	0
HGVS	NC_000002.11:g.44547675C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019747.27,