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rs730882069

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730882069(-;-)
Make rs730882069(-;A)
Make rs730882069(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position75286488
GeneTSHZ1
is asnp
is mentioned by
dbSNPrs730882069
ebirs730882069
HLIrs730882069
Exacrs730882069
Varsomers730882069
Maprs730882069
PheGenIrs730882069
hapmaprs730882069
1000 genomesrs730882069
hgdprs730882069
ensemblrs730882069
gopubmedrs730882069
geneviewrs730882069
scholarrs730882069
googlers730882069
pharmgkbrs730882069
gwascentralrs730882069
openSNPrs730882069
23andMers730882069
23andMe allrs730882069
SNP Nexus

SNPshotrs730882069
SNPdbers730882069
MSV3drs730882069
GWAS Ctlgrs730882069
Max Magnitude0
ClinVar
Risk rs730882069(A;A)
Alt rs730882069(A;A)
Reference rs730882069(;)
Significance Pathogenic
Disease Aural atresia
Variation info
Gene TSHZ1
CLNDBN Aural atresia, congenital
Reversed 0
HGVS NC_000018.9:g.72998443_72998444insA
CLNSRC OMIM Allelic Variant
CLNACC RCV000024184.3,