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rs587777778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777778(C;T)
Make rs587777778(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position78304839
GenePSAT1
is asnp
is mentioned by
dbSNPrs587777778
ebirs587777778
HLIrs587777778
Exacrs587777778
Varsomers587777778
Maprs587777778
PheGenIrs587777778
hapmaprs587777778
1000 genomesrs587777778
hgdprs587777778
ensemblrs587777778
gopubmedrs587777778
geneviewrs587777778
scholarrs587777778
googlers587777778
pharmgkbrs587777778
gwascentralrs587777778
openSNPrs587777778
23andMers587777778
23andMe allrs587777778
SNP Nexus

SNPshotrs587777778
SNPdbers587777778
MSV3drs587777778
GWAS Ctlgrs587777778
Max Magnitude0
ClinVar
Risk rs587777778(T;T)
Alt rs587777778(T;T)
Reference rs587777778(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.80919755C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144448.3,