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rs121908171

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908171(A;A)
Make rs121908171(A;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position57194817
GeneRAB23
is asnp
is mentioned by
dbSNPrs121908171
ebirs121908171
HLIrs121908171
Exacrs121908171
Varsomers121908171
Maprs121908171
PheGenIrs121908171
hapmaprs121908171
1000 genomesrs121908171
hgdprs121908171
ensemblrs121908171
gopubmedrs121908171
geneviewrs121908171
scholarrs121908171
googlers121908171
pharmgkbrs121908171
gwascentralrs121908171
openSNPrs121908171
23andMers121908171
23andMe allrs121908171
SNP Nexus

SNPshotrs121908171
SNPdbers121908171
MSV3drs121908171
GWAS Ctlgrs121908171
GMAF0.0009183
Max Magnitude0
OMIM606144
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908171(A;A)
Alt rs121908171(A;A)
Reference rs121908171(T;T)
Significance Pathogenic
Disease Carpenter syndrome 1
Variation info
Gene RAB23
CLNDBN Carpenter syndrome 1
Reversed 1
HGVS NC_000006.11:g.57059615A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004853.2,