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rs587777777

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777777(C;T)
Make rs587777777(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position78306452
GenePSAT1
is asnp
is mentioned by
dbSNPrs587777777
ebirs587777777
HLIrs587777777
Exacrs587777777
Varsomers587777777
Maprs587777777
PheGenIrs587777777
hapmaprs587777777
1000 genomesrs587777777
hgdprs587777777
ensemblrs587777777
gopubmedrs587777777
geneviewrs587777777
scholarrs587777777
googlers587777777
pharmgkbrs587777777
gwascentralrs587777777
openSNPrs587777777
23andMers587777777
23andMe allrs587777777
SNP Nexus

SNPshotrs587777777
SNPdbers587777777
MSV3drs587777777
GWAS Ctlgrs587777777
Max Magnitude0
ClinVar
Risk rs587777777(T;T)
Alt rs587777777(T;T)
Reference rs587777777(C;C)
Significance Pathogenic
Disease Neu-laxova syndrome 2
Variation info
Gene PSAT1
CLNDBN Neu-laxova syndrome 2
Reversed 0
HGVS NC_000009.11:g.80921368C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144447.3,