rs587777483

Orientation

plus

Stabilized

plus

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

Make rs587777483(A;A)

Make rs587777483(A;G)

Reference

GRCh38 38.1/142

Chromosome

1

Position

119727080

Gene	LOC105378936, PHGDH

is a	snp
is	mentioned by
dbSNP	rs587777483
dbSNP (classic)	rs587777483
ClinGen	rs587777483
ebi	rs587777483
HLI	rs587777483
Exac	rs587777483
Gnomad	rs587777483
Varsome	rs587777483
LitVar	rs587777483
Map	rs587777483
PheGenI	rs587777483
Biobank	rs587777483
1000 genomes	rs587777483
hgdp	rs587777483
ensembl	rs587777483
geneview	rs587777483
scholar	rs587777483
google	rs587777483
pharmgkb	rs587777483
gwascentral	rs587777483
openSNP	rs587777483
23andMe	rs587777483
SNPshot	rs587777483
SNPdbe	rs587777483
MSV3d	rs587777483
GWAS Ctlg	rs587777483

Max Magnitude

0

ClinVar
Risk	rs587777483(A;A)
Alt	rs587777483(A;A)
Reference	Rs587777483(G;G)
Significance	Pathogenic
Disease	Neu-Laxova syndrome 1
Variation	info
Gene	PHGDH
CLNDBN	Neu-Laxova syndrome 1
Reversed	0
HGVS	NC_000001.10:g.120269703G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000128434.4,