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rs587777090

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777090(C;C)
Make rs587777090(C;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position96304081
GenePTDSS1
is asnp
is mentioned by
dbSNPrs587777090
ebirs587777090
HLIrs587777090
Exacrs587777090
Varsomers587777090
Maprs587777090
PheGenIrs587777090
hapmaprs587777090
1000 genomesrs587777090
hgdprs587777090
ensemblrs587777090
gopubmedrs587777090
geneviewrs587777090
scholarrs587777090
googlers587777090
pharmgkbrs587777090
gwascentralrs587777090
openSNPrs587777090
23andMers587777090
23andMe allrs587777090
SNP Nexus

SNPshotrs587777090
SNPdbers587777090
MSV3drs587777090
GWAS Ctlgrs587777090
Max Magnitude0
ClinVar
Risk rs587777090(C;C)
Alt rs587777090(C;C)
Reference rs587777090(T;T)
Significance Pathogenic
Disease Lenz-Majewski hyperostosis syndrome
Variation info
Gene PTDSS1
CLNDBN Lenz-Majewski hyperostosis syndrome
Reversed 0
HGVS NC_000008.10:g.97316309T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000083282.3,