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rs730882070

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882070(A;A)
Make rs730882070(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position75286265
GeneTSHZ1
is asnp
is mentioned by
dbSNPrs730882070
dbSNP (classic)rs730882070
ClinGenrs730882070
ebirs730882070
HLIrs730882070
Exacrs730882070
Gnomadrs730882070
Varsomers730882070
LitVarrs730882070
Maprs730882070
PheGenIrs730882070
Biobankrs730882070
1000 genomesrs730882070
hgdprs730882070
ensemblrs730882070
geneviewrs730882070
scholarrs730882070
googlers730882070
pharmgkbrs730882070
gwascentralrs730882070
openSNPrs730882070
23andMers730882070
SNPshotrs730882070
SNPdbers730882070
MSV3drs730882070
GWAS Ctlgrs730882070
Max Magnitude0
ClinVar
Risk rs730882070(A;A)
Alt rs730882070(A;A)
Reference Rs730882070(G;G)
Significance Pathogenic
Disease Aural atresia
Variation info
Gene TSHZ1
CLNDBN Aural atresia, congenital
Reversed 0
HGVS NC_000018.9:g.72998220G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024185.3,