rs587777778

Orientation

plus

Stabilized

plus

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

Make rs587777778(C;T)

Make rs587777778(T;T)

Reference

GRCh38 38.1/142

Chromosome

9

Position

78304839

Gene

PSAT1

is a	snp
is	mentioned by
dbSNP	rs587777778
dbSNP (classic)	rs587777778
ClinGen	rs587777778
ebi	rs587777778
HLI	rs587777778
Exac	rs587777778
Gnomad	rs587777778
Varsome	rs587777778
LitVar	rs587777778
Map	rs587777778
PheGenI	rs587777778
Biobank	rs587777778
1000 genomes	rs587777778
hgdp	rs587777778
ensembl	rs587777778
geneview	rs587777778
scholar	rs587777778
google	rs587777778
pharmgkb	rs587777778
gwascentral	rs587777778
openSNP	rs587777778
23andMe	rs587777778
SNPshot	rs587777778
SNPdbe	rs587777778
MSV3d	rs587777778
GWAS Ctlg	rs587777778

Max Magnitude

0

ClinVar
Risk	rs587777778(T;T)
Alt	rs587777778(T;T)
Reference	Rs587777778(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.80919755C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144448.3,