rs587777777

Orientation

plus

Stabilized

plus

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

Make rs587777777(C;T)

Make rs587777777(T;T)

Reference

GRCh38 38.1/142

Chromosome

9

Position

78306452

Gene

PSAT1

is a	snp
is	mentioned by
dbSNP	rs587777777
dbSNP (classic)	rs587777777
ClinGen	rs587777777
ebi	rs587777777
HLI	rs587777777
Exac	rs587777777
Gnomad	rs587777777
Varsome	rs587777777
LitVar	rs587777777
Map	rs587777777
PheGenI	rs587777777
Biobank	rs587777777
1000 genomes	rs587777777
hgdp	rs587777777
ensembl	rs587777777
geneview	rs587777777
scholar	rs587777777
google	rs587777777
pharmgkb	rs587777777
gwascentral	rs587777777
openSNP	rs587777777
23andMe	rs587777777
SNPshot	rs587777777
SNPdbe	rs587777777
MSV3d	rs587777777
GWAS Ctlg	rs587777777

Max Magnitude

0

ClinVar
Risk	rs587777777(A;A) rs587777777(T;T)
Alt	rs587777777(A;A) rs587777777(T;T)
Reference	Rs587777777(C;C)
Significance	Pathogenic
Disease	Neu-laxova syndrome 2
Variation	info
Gene	PSAT1
CLNDBN	Neu-laxova syndrome 2
Reversed	0
HGVS	NC_000009.11:g.80921368C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144447.3,