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rs587777483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777483(A;A)
Make rs587777483(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position119727080
GenePHGDH
is asnp
is mentioned by
dbSNPrs587777483
ebirs587777483
HLIrs587777483
Exacrs587777483
Varsomers587777483
Maprs587777483
PheGenIrs587777483
hapmaprs587777483
1000 genomesrs587777483
hgdprs587777483
ensemblrs587777483
gopubmedrs587777483
geneviewrs587777483
scholarrs587777483
googlers587777483
pharmgkbrs587777483
gwascentralrs587777483
openSNPrs587777483
23andMers587777483
23andMe allrs587777483
SNP Nexus

SNPshotrs587777483
SNPdbers587777483
MSV3drs587777483
GWAS Ctlgrs587777483
Max Magnitude0
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
CLNACC RCV000128434.4,