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rs398122360

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122360(C;T)
Make rs398122360(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position27101154
GeneHOXA2
is asnp
is mentioned by
dbSNPrs398122360
dbSNP (classic)rs398122360
ClinGenrs398122360
ebirs398122360
HLIrs398122360
Exacrs398122360
Gnomadrs398122360
Varsomers398122360
LitVarrs398122360
Maprs398122360
PheGenIrs398122360
Biobankrs398122360
1000 genomesrs398122360
hgdprs398122360
ensemblrs398122360
geneviewrs398122360
scholarrs398122360
googlers398122360
pharmgkbrs398122360
gwascentralrs398122360
openSNPrs398122360
23andMers398122360
SNPshotrs398122360
SNPdbers398122360
MSV3drs398122360
GWAS Ctlgrs398122360
Max Magnitude0
ClinVar
Risk rs398122360(T;T)
Alt rs398122360(T;T)
Reference Rs398122360(C;C)
Significance Pathogenic
Disease Microtia
Variation info
Gene HOXA2
CLNDBN Microtia, hearing impairment, and cleft palate
Reversed 1
HGVS NC_000007.13:g.27140773G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074433.5,