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rs769471844

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs769471844(A;A)
Make rs769471844(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position78124181
GeneTMC6
is asnp
is mentioned by
dbSNPrs769471844
dbSNP (classic)rs769471844
ClinGenrs769471844
ebirs769471844
HLIrs769471844
Exacrs769471844
Gnomadrs769471844
Varsomers769471844
LitVarrs769471844
Maprs769471844
PheGenIrs769471844
Biobankrs769471844
1000 genomesrs769471844
hgdprs769471844
ensemblrs769471844
geneviewrs769471844
scholarrs769471844
googlers769471844
pharmgkbrs769471844
gwascentralrs769471844
openSNPrs769471844
23andMers769471844
SNPshotrs769471844
SNPdbers769471844
MSV3drs769471844
GWAS Ctlgrs769471844
Max Magnitude0
ClinVar
Risk rs769471844(A;A)
Alt rs769471844(A;A)
Reference Rs769471844(T;T)
Significance Pathogenic
Disease EPIDERMODYSPLASIA VERRUCIFORMIS
Variation info
Gene TMC6
CLNDBN EPIDERMODYSPLASIA VERRUCIFORMIS
Reversed 0
HGVS NC_000017.10:g.76120262T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005017.4,