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rs119489104

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119489104(A;A)
Make rs119489104(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position27101301
GeneHOXA2
is asnp
is mentioned by
dbSNPrs119489104
dbSNP (classic)rs119489104
ClinGenrs119489104
ebirs119489104
HLIrs119489104
Exacrs119489104
Gnomadrs119489104
Varsomers119489104
LitVarrs119489104
Maprs119489104
PheGenIrs119489104
Biobankrs119489104
1000 genomesrs119489104
hgdprs119489104
ensemblrs119489104
geneviewrs119489104
scholarrs119489104
googlers119489104
pharmgkbrs119489104
gwascentralrs119489104
openSNPrs119489104
23andMers119489104
SNPshotrs119489104
SNPdbers119489104
MSV3drs119489104
GWAS Ctlgrs119489104
Max Magnitude0
OMIM604685
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119489104(A;A)
Alt rs119489104(A;A)
Reference Rs119489104(C;C)
Significance Pathogenic
Disease Microtia
Variation info
Gene HOXA2
CLNDBN Microtia, hearing impairment, and cleft palate
Reversed 1
HGVS NC_000007.13:g.27140920G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005738.5,