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rs786205872

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786205872(-;-)
Make rs786205872(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position101206427
GenePLOD3
is asnp
is mentioned by
dbSNPrs786205872
ebirs786205872
HLIrs786205872
Exacrs786205872
Varsomers786205872
Maprs786205872
PheGenIrs786205872
hapmaprs786205872
1000 genomesrs786205872
hgdprs786205872
ensemblrs786205872
gopubmedrs786205872
geneviewrs786205872
scholarrs786205872
googlers786205872
pharmgkbrs786205872
gwascentralrs786205872
openSNPrs786205872
23andMers786205872
23andMe allrs786205872
SNP Nexus

SNPshotrs786205872
SNPdbers786205872
MSV3drs786205872
GWAS Ctlgrs786205872
Max Magnitude0
ClinVar
Risk rs786205872(;)
Alt rs786205872(;)
Reference rs786205872(T;T)
Significance Pathogenic
Disease Bone fragility with contractures
Variation info
Gene PLOD3
CLNDBN Bone fragility with contractures, arterial rupture, and deafness
Reversed 1
HGVS NC_000007.13:g.100849708delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000007023.3,