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rs587777770

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777770(A;A)
Make rs587777770(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position119727010
GeneLOC105378936, PHGDH
is asnp
is mentioned by
dbSNPrs587777770
dbSNP (classic)rs587777770
ClinGenrs587777770
ebirs587777770
HLIrs587777770
Exacrs587777770
Gnomadrs587777770
Varsomers587777770
LitVarrs587777770
Maprs587777770
PheGenIrs587777770
Biobankrs587777770
1000 genomesrs587777770
hgdprs587777770
ensemblrs587777770
geneviewrs587777770
scholarrs587777770
googlers587777770
pharmgkbrs587777770
gwascentralrs587777770
openSNPrs587777770
23andMers587777770
SNPshotrs587777770
SNPdbers587777770
MSV3drs587777770
GWAS Ctlgrs587777770
Max Magnitude0
ClinVar
Risk rs587777770(A;A)
Alt rs587777770(A;A)
Reference Rs587777770(G;G)
Significance Pathogenic
Disease Neu-Laxova syndrome 1 not provided
Variation info
Gene PHGDH
CLNDBN Neu-Laxova syndrome 1 not provided
Reversed 0
HGVS NC_000001.10:g.120269633G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000128433.3, RCV000171157.1,