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rs34712518

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34712518(C;T)
Make rs34712518(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position78124950
GeneTMC6
is asnp
is mentioned by
dbSNPrs34712518
ebirs34712518
HLIrs34712518
Exacrs34712518
Varsomers34712518
Maprs34712518
PheGenIrs34712518
hapmaprs34712518
1000 genomesrs34712518
hgdprs34712518
ensemblrs34712518
gopubmedrs34712518
geneviewrs34712518
scholarrs34712518
googlers34712518
pharmgkbrs34712518
gwascentralrs34712518
openSNPrs34712518
23andMers34712518
23andMe allrs34712518
SNP Nexus

SNPshotrs34712518
SNPdbers34712518
MSV3drs34712518
GWAS Ctlgrs34712518
GMAF0.09596
Max Magnitude0
Venter snp
Source plos
Gene TMC6
allele T
frequency
sift TOLERATED
HuRef 1103645387113
Disease Association Defects in TMC6 are a cause of epidermodysplasia verruciformis (EV) (MIM:226400). It is a rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses. Infection leads to persistent wart-like or macular lesions.



GET Evidence
TMC6-G191D
aa_change Gly191Asp
aa_change_short G191D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0910459
summary