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rs387907239

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907239(C;T)
Make rs387907239(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position48529834
GeneHOXB1
is asnp
is mentioned by
dbSNPrs387907239
ebirs387907239
HLIrs387907239
Exacrs387907239
Varsomers387907239
Maprs387907239
PheGenIrs387907239
hapmaprs387907239
1000 genomesrs387907239
hgdprs387907239
ensemblrs387907239
gopubmedrs387907239
geneviewrs387907239
scholarrs387907239
googlers387907239
pharmgkbrs387907239
gwascentralrs387907239
openSNPrs387907239
23andMers387907239
23andMe allrs387907239
SNP Nexus

SNPshotrs387907239
SNPdbers387907239
MSV3drs387907239
GWAS Ctlgrs387907239
Max Magnitude0
ClinVar
Risk rs387907239(T;T)
Alt rs387907239(T;T)
Reference rs387907239(C;C)
Significance Pathogenic
Disease Hereditary congenital facial paresis 3
Variation info
Gene HOXB1
CLNDBN Hereditary congenital facial paresis 3
Reversed 1
HGVS NC_000017.10:g.46607196G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029225.25,