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rs119103286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103286(A;A)
Make rs119103286(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position88841196
GeneTTC8
is asnp
is mentioned by
dbSNPrs119103286
dbSNP (classic)rs119103286
ClinGenrs119103286
ebirs119103286
HLIrs119103286
Exacrs119103286
Gnomadrs119103286
Varsomers119103286
LitVarrs119103286
Maprs119103286
PheGenIrs119103286
Biobankrs119103286
1000 genomesrs119103286
hgdprs119103286
ensemblrs119103286
geneviewrs119103286
scholarrs119103286
googlers119103286
pharmgkbrs119103286
gwascentralrs119103286
openSNPrs119103286
23andMers119103286
SNPshotrs119103286
SNPdbers119103286
MSV3drs119103286
GWAS Ctlgrs119103286
Max Magnitude0
OMIM608132
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119103286(A;A)
Alt rs119103286(A;A)
Reference Rs119103286(G;G)
Significance Other
Disease Bardet-Biedl syndrome 8 Bardet-Biedl syndrome Intellectual disability Postaxial foot polydactyly Truncal obesity
Variation info
Gene TTC8
CLNDBN Bardet-Biedl syndrome 8 Bardet-Biedl syndrome Intellectual disability, moderate Postaxial foot polydactyly Truncal obesity
Reversed 0
HGVS NC_000014.8:g.89307540G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002639.3, RCV000203928.2, RCV000415339.1,