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rs185089786

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs185089786(C;C)
Make rs185089786(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position165929290
GeneTTC21B
is asnp
is mentioned by
dbSNPrs185089786
ebirs185089786
HLIrs185089786
Exacrs185089786
Varsomers185089786
Maprs185089786
PheGenIrs185089786
hapmaprs185089786
1000 genomesrs185089786
hgdprs185089786
ensemblrs185089786
gopubmedrs185089786
geneviewrs185089786
scholarrs185089786
googlers185089786
pharmgkbrs185089786
gwascentralrs185089786
openSNPrs185089786
23andMers185089786
23andMe allrs185089786
SNP Nexus

SNPshotrs185089786
SNPdbers185089786
MSV3drs185089786
GWAS Ctlgrs185089786
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs185089786(A,C;A,C)
Alt rs185089786(A,C;A,C)
Reference rs185089786(G;G)
Significance Pathogenic
Disease Asphyxiating thoracic dystrophy 4
Variation info
Gene TTC21B
CLNDBN Asphyxiating thoracic dystrophy 4
Reversed 0
HGVS NC_000002.11:g.166785800G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023927.3,