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rs387907060

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907060(C;C)
Make rs387907060(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position165911404
GeneTTC21B
is asnp
is mentioned by
dbSNPrs387907060
ebirs387907060
HLIrs387907060
Exacrs387907060
Varsomers387907060
Maprs387907060
PheGenIrs387907060
hapmaprs387907060
1000 genomesrs387907060
hgdprs387907060
ensemblrs387907060
gopubmedrs387907060
geneviewrs387907060
scholarrs387907060
googlers387907060
pharmgkbrs387907060
gwascentralrs387907060
openSNPrs387907060
23andMers387907060
23andMe allrs387907060
SNP Nexus

SNPshotrs387907060
SNPdbers387907060
MSV3drs387907060
GWAS Ctlgrs387907060
Max Magnitude0
ClinVar
Risk rs387907060(C;C)
Alt rs387907060(C;C)
Reference rs387907060(T;T)
Significance Pathogenic
Disease Asphyxiating thoracic dystrophy 4
Variation info
Gene TTC21B
CLNDBN Asphyxiating thoracic dystrophy 4
Reversed 1
HGVS NC_000002.11:g.166767914A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023928.4,