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rs587777775

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777775(C;C)
Make rs587777775(C;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position119737177
GenePHGDH
is asnp
is mentioned by
dbSNPrs587777775
ebirs587777775
HLIrs587777775
Exacrs587777775
Varsomers587777775
Maprs587777775
PheGenIrs587777775
hapmaprs587777775
1000 genomesrs587777775
hgdprs587777775
ensemblrs587777775
gopubmedrs587777775
geneviewrs587777775
scholarrs587777775
googlers587777775
pharmgkbrs587777775
gwascentralrs587777775
openSNPrs587777775
23andMers587777775
23andMe allrs587777775
SNP Nexus

SNPshotrs587777775
SNPdbers587777775
MSV3drs587777775
GWAS Ctlgrs587777775
Max Magnitude0
ClinVar
Risk rs587777775(C;C)
Alt rs587777775(C;C)
Reference rs587777775(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.120279800G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000144445.3,