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rs1085307128

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome4
Position139454406
GeneLOC107984036, RAB33B
is asnp
is mentioned by
dbSNPrs1085307128
dbSNP (old)rs1085307128
ClinGenrs1085307128
ebirs1085307128
HLIrs1085307128
Exacrs1085307128
Gnomadrs1085307128
Varsomers1085307128
Maprs1085307128
PheGenIrs1085307128
Biobankrs1085307128
1000 genomesrs1085307128
hgdprs1085307128
ensemblrs1085307128
gopubmedrs1085307128
geneviewrs1085307128
scholarrs1085307128
googlers1085307128
pharmgkbrs1085307128
gwascentralrs1085307128
openSNPrs1085307128
23andMers1085307128
23andMe allrs1085307128
SNPshotrs1085307128
SNPdbers1085307128
MSV3drs1085307128
GWAS Ctlgrs1085307128
Max Magnitude0
ClinVar
Risk rs1085307128(T;T)
Alt rs1085307128(T;T)
Reference Rs1085307128(C;C)
Significance Pathogenic
Disease Smith-McCort dysplasia 2
Variation info
Gene RAB33B LOC101927451
CLNDBN Smith-McCort dysplasia 2
Reversed 0
HGVS NC_000004.11:g.140375560C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000488447.1,