rs587777122

Orientation

plus

Stabilized

minus

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

Make rs587777122(C;C)

Make rs587777122(C;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

122116653

Gene

AASS

is a	snp
is	mentioned by
dbSNP	rs587777122
dbSNP (classic)	rs587777122
ClinGen	rs587777122
ebi	rs587777122
HLI	rs587777122
Exac	rs587777122
Gnomad	rs587777122
Varsome	rs587777122
LitVar	rs587777122
Map	rs587777122
PheGenI	rs587777122
Biobank	rs587777122
1000 genomes	rs587777122
hgdp	rs587777122
ensembl	rs587777122
geneview	rs587777122
scholar	rs587777122
google	rs587777122
pharmgkb	rs587777122
gwascentral	rs587777122
openSNP	rs587777122
23andMe	rs587777122
SNPshot	rs587777122
SNPdbe	rs587777122
MSV3d	rs587777122
GWAS Ctlg	rs587777122

Max Magnitude

0

ClinVar
Risk	rs587777122(C;C) Rs587777122(T;T)
Alt	rs587777122(C;C) Rs587777122(T;T)
Reference	Rs587777122(A;A)
Significance	Pathogenic
Disease	Hyperlysinemia
Variation	info
Gene	AASS
CLNDBN	Hyperlysinemia
Reversed	1
HGVS	NC_000007.13:g.121756707T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087043.4,