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rs587777774

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777774(A;A)
Make rs587777774(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position119737114
GenePHGDH
is asnp
is mentioned by
dbSNPrs587777774
dbSNP (classic)rs587777774
ClinGenrs587777774
ebirs587777774
HLIrs587777774
Exacrs587777774
Gnomadrs587777774
Varsomers587777774
LitVarrs587777774
Maprs587777774
PheGenIrs587777774
Biobankrs587777774
1000 genomesrs587777774
hgdprs587777774
ensemblrs587777774
geneviewrs587777774
scholarrs587777774
googlers587777774
pharmgkbrs587777774
gwascentralrs587777774
openSNPrs587777774
23andMers587777774
SNPshotrs587777774
SNPdbers587777774
MSV3drs587777774
GWAS Ctlgrs587777774
Max Magnitude0
ClinVar
Risk rs587777774(A;A)
Alt rs587777774(A;A)
Reference Rs587777774(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.120279737G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000144444.3,