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rs387907149

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907149(A;C)
Make rs387907149(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position44704053
GeneCEACAM16, LOC107985305
is asnp
is mentioned by
dbSNPrs387907149
dbSNP (classic)rs387907149
ClinGenrs387907149
ebirs387907149
HLIrs387907149
Exacrs387907149
Gnomadrs387907149
Varsomers387907149
LitVarrs387907149
Maprs387907149
PheGenIrs387907149
Biobankrs387907149
1000 genomesrs387907149
hgdprs387907149
ensemblrs387907149
geneviewrs387907149
scholarrs387907149
googlers387907149
pharmgkbrs387907149
gwascentralrs387907149
openSNPrs387907149
23andMers387907149
SNPshotrs387907149
SNPdbers387907149
MSV3drs387907149
GWAS Ctlgrs387907149
Max Magnitude0
ClinVar
Risk rs387907149(C;C)
Alt rs387907149(C;C)
Reference Rs387907149(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene CEACAM16
CLNDBN Deafness, autosomal dominant 4b
Reversed 0
HGVS NC_000019.9:g.45207323A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024237.4,