rs121912696

Orientation

plus

Stabilized

plus

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

Make rs121912696(A;A)

Make rs121912696(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

44320424

Gene	PREPL, SLC3A1

is a	snp
is	mentioned by
dbSNP	rs121912696
dbSNP (classic)	rs121912696
ClinGen	rs121912696
ebi	rs121912696
HLI	rs121912696
Exac	rs121912696
Gnomad	rs121912696
Varsome	rs121912696
LitVar	rs121912696
Map	rs121912696
PheGenI	rs121912696
Biobank	rs121912696
1000 genomes	rs121912696
hgdp	rs121912696
ensembl	rs121912696
geneview	rs121912696
scholar	rs121912696
google	rs121912696
pharmgkb	rs121912696
gwascentral	rs121912696
openSNP	rs121912696
23andMe	rs121912696
SNPshot	rs121912696
SNPdbe	rs121912696
MSV3d	rs121912696
GWAS Ctlg	rs121912696

Max Magnitude

0

OMIM	104614
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121912696(A;A)
Alt	rs121912696(A;A)
Reference	Rs121912696(C;C)
Significance	Pathogenic
Disease	Cystinuria
Variation	info
Gene	PREPL SLC3A1
CLNDBN	Cystinuria
Reversed	0
HGVS	NC_000002.11:g.44547563C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019748.27,