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rs1040461

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs1040461(C;T)
Make rs1040461(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position57190556
GeneRAB23
is asnp
is mentioned by
dbSNPrs1040461
ebirs1040461
HLIrs1040461
Exacrs1040461
Varsomers1040461
Maprs1040461
PheGenIrs1040461
hapmaprs1040461
1000 genomesrs1040461
hgdprs1040461
ensemblrs1040461
gopubmedrs1040461
geneviewrs1040461
scholarrs1040461
googlers1040461
pharmgkbrs1040461
gwascentralrs1040461
openSNPrs1040461
23andMers1040461
23andMe allrs1040461
SNP Nexus

SNPshotrs1040461
SNPdbers1040461
MSV3drs1040461
GWAS Ctlgrs1040461
GMAF0.1061
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 21540310] A genome-wide association study reveals evidence of association with sarcoidosis at 6p12.1


[PMID 17503333OA-icon.png] RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.


GET Evidence
RAB23-G207S
aa_change Gly207Ser
aa_change_short G207S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.114798
summary