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rs587777088

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777088(A;G)
Make rs587777088(G;G)
ReferenceGRCh38 38.1/142
Chromosome8
Position96309607
GenePTDSS1
is asnp
is mentioned by
dbSNPrs587777088
ebirs587777088
HLIrs587777088
Exacrs587777088
Varsomers587777088
Maprs587777088
PheGenIrs587777088
hapmaprs587777088
1000 genomesrs587777088
hgdprs587777088
ensemblrs587777088
gopubmedrs587777088
geneviewrs587777088
scholarrs587777088
googlers587777088
pharmgkbrs587777088
gwascentralrs587777088
openSNPrs587777088
23andMers587777088
23andMe allrs587777088
SNP Nexus

SNPshotrs587777088
SNPdbers587777088
MSV3drs587777088
GWAS Ctlgrs587777088
Max Magnitude0
ClinVar
Risk rs587777088(G;G)
Alt rs587777088(G;G)
Reference rs587777088(A;A)
Significance Pathogenic
Disease Lenz-Majewski hyperostosis syndrome
Variation info
Gene PTDSS1
CLNDBN Lenz-Majewski hyperostosis syndrome
Reversed 0
HGVS NC_000008.10:g.97321835A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000083280.3,