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rs1060505026

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060505026(C;C)
Make rs1060505026(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position57194770
GeneRAB23
is asnp
is mentioned by
dbSNPrs1060505026
dbSNP (old)rs1060505026
ClinGenrs1060505026
ebirs1060505026
HLIrs1060505026
Exacrs1060505026
Gnomadrs1060505026
Varsomers1060505026
Maprs1060505026
PheGenIrs1060505026
Biobankrs1060505026
1000 genomesrs1060505026
hgdprs1060505026
ensemblrs1060505026
gopubmedrs1060505026
geneviewrs1060505026
scholarrs1060505026
googlers1060505026
pharmgkbrs1060505026
gwascentralrs1060505026
openSNPrs1060505026
23andMers1060505026
23andMe allrs1060505026
SNPshotrs1060505026
SNPdbers1060505026
MSV3drs1060505026
GWAS Ctlgrs1060505026
Max Magnitude0
ClinVar
Risk rs1060505026(C;C)
Alt rs1060505026(C;C)
Reference Rs1060505026(G;G)
Significance Pathogenic
Disease Carpenter syndrome
Variation info
Gene RAB23
CLNDBN Carpenter syndrome
Reversed 1
HGVS NC_000006.11:g.57059568C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000477736.1,