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rs587777089

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777089(C;T)
Make rs587777089(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position96304092
GenePTDSS1
is asnp
is mentioned by
dbSNPrs587777089
dbSNP (old)rs587777089
ClinGenrs587777089
ebirs587777089
HLIrs587777089
Exacrs587777089
Gnomadrs587777089
Varsomers587777089
Maprs587777089
PheGenIrs587777089
Biobankrs587777089
1000 genomesrs587777089
hgdprs587777089
ensemblrs587777089
gopubmedrs587777089
geneviewrs587777089
scholarrs587777089
googlers587777089
pharmgkbrs587777089
gwascentralrs587777089
openSNPrs587777089
23andMers587777089
23andMe allrs587777089
SNP Nexus

SNPshotrs587777089
SNPdbers587777089
MSV3drs587777089
GWAS Ctlgrs587777089
Max Magnitude0
ClinVar
Risk rs587777089(T;T)
Alt rs587777089(T;T)
Reference Rs587777089(C;C)
Significance Pathogenic
Disease Lenz-Majewski hyperostosis syndrome
Variation info
Gene PTDSS1
CLNDBN Lenz-Majewski hyperostosis syndrome
Reversed 0
HGVS NC_000008.10:g.97316320C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000083281.3,