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rs1085307131

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome4
Position139472926
GeneRAB33B
is asnp
is mentioned by
dbSNPrs1085307131
dbSNP (old)rs1085307131
ClinGenrs1085307131
ebirs1085307131
HLIrs1085307131
Exacrs1085307131
Gnomadrs1085307131
Varsomers1085307131
Maprs1085307131
PheGenIrs1085307131
Biobankrs1085307131
1000 genomesrs1085307131
hgdprs1085307131
ensemblrs1085307131
gopubmedrs1085307131
geneviewrs1085307131
scholarrs1085307131
googlers1085307131
pharmgkbrs1085307131
gwascentralrs1085307131
openSNPrs1085307131
23andMers1085307131
23andMe allrs1085307131
SNPshotrs1085307131
SNPdbers1085307131
MSV3drs1085307131
GWAS Ctlgrs1085307131
Max Magnitude0
ClinVar
Risk rs1085307131(T;T)
Alt rs1085307131(T;T)
Reference Rs1085307131(C;C)
Significance Pathogenic
Disease Smith-McCort dysplasia 2
Variation info
Gene RAB33B
CLNDBN Smith-McCort dysplasia 2
Reversed 0
HGVS NC_000004.11:g.140394080C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000488449.1,