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rs764618040

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs764618040(C;T)
Make rs764618040(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position119726868
GeneLOC105378936, PHGDH
is asnp
is mentioned by
dbSNPrs764618040
dbSNP (classic)rs764618040
ClinGenrs764618040
ebirs764618040
HLIrs764618040
Exacrs764618040
Gnomadrs764618040
Varsomers764618040
LitVarrs764618040
Maprs764618040
PheGenIrs764618040
Biobankrs764618040
1000 genomesrs764618040
hgdprs764618040
ensemblrs764618040
geneviewrs764618040
scholarrs764618040
googlers764618040
pharmgkbrs764618040
gwascentralrs764618040
openSNPrs764618040
23andMers764618040
SNPshotrs764618040
SNPdbers764618040
MSV3drs764618040
GWAS Ctlgrs764618040
Max Magnitude0
ClinVar
Risk rs764618040(T;T)
Alt rs764618040(T;T)
Reference Rs764618040(C;C)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy Seizures
Variation info
Gene PHGDH
CLNDBN Epileptic encephalopathy Seizures
Reversed 0
HGVS NC_000001.10:g.120269491C>T
CLNSRC
CLNACC RCV000414985.1,