Have questions? Visit https://www.reddit.com/r/SNPedia

rs1085307129

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome4
Position139472801
GeneRAB33B
is asnp
is mentioned by
dbSNPrs1085307129
dbSNP (old)rs1085307129
ClinGenrs1085307129
ebirs1085307129
HLIrs1085307129
Exacrs1085307129
Gnomadrs1085307129
Varsomers1085307129
Maprs1085307129
PheGenIrs1085307129
Biobankrs1085307129
1000 genomesrs1085307129
hgdprs1085307129
ensemblrs1085307129
gopubmedrs1085307129
geneviewrs1085307129
scholarrs1085307129
googlers1085307129
pharmgkbrs1085307129
gwascentralrs1085307129
openSNPrs1085307129
23andMers1085307129
23andMe allrs1085307129
SNPshotrs1085307129
SNPdbers1085307129
MSV3drs1085307129
GWAS Ctlgrs1085307129
Max Magnitude0
ClinVar
Risk rs1085307129(C;C)
Alt rs1085307129(C;C)
Reference Rs1085307129(T;T)
Significance Pathogenic
Disease Smith-McCort dysplasia 2
Variation info
Gene RAB33B
CLNDBN Smith-McCort dysplasia 2
Reversed 0
HGVS NC_000004.11:g.140393955T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000488435.1,