rs387906333

Orientation

minus

Stabilized

minus

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

Make rs387906333(-;-)

Make rs387906333(-;GTAAACAAG)

Reference

GRCh38 38.1/141

Chromosome

7

Position

122098496

Gene

AASS

is a	snp
is	mentioned by
dbSNP	rs387906333
dbSNP (classic)	rs387906333
ClinGen	rs387906333
ebi	rs387906333
HLI	rs387906333
Exac	rs387906333
Gnomad	rs387906333
Varsome	rs387906333
LitVar	rs387906333
Map	rs387906333
PheGenI	rs387906333
Biobank	rs387906333
1000 genomes	rs387906333
hgdp	rs387906333
ensembl	rs387906333
geneview	rs387906333
scholar	rs387906333
google	rs387906333
pharmgkb	rs387906333
gwascentral	rs387906333
openSNP	rs387906333
23andMe	rs387906333
SNPshot	rs387906333
SNPdbe	rs387906333
MSV3d	rs387906333
GWAS Ctlg	rs387906333

Max Magnitude

0

ClinVar
Risk	rs387906333(-;-)
Alt	rs387906333(-;-)
Reference	Rs387906333(GTAAACAAG;GTAAACAAG)
Significance	Pathogenic
Disease	Hyperlysinemia
Variation	info
Gene	AASS
CLNDBN	Hyperlysinemia
Reversed	1
HGVS	NC_000007.13:g.121738550_121738558delCTTGTTTAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005519.3,