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rs387906639

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906639(A;C)
Make rs387906639(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position140674776
GeneDND1, HARS
is asnp
is mentioned by
dbSNPrs387906639
ebirs387906639
HLIrs387906639
Exacrs387906639
Varsomers387906639
Maprs387906639
PheGenIrs387906639
hapmaprs387906639
1000 genomesrs387906639
hgdprs387906639
ensemblrs387906639
gopubmedrs387906639
geneviewrs387906639
scholarrs387906639
googlers387906639
pharmgkbrs387906639
gwascentralrs387906639
openSNPrs387906639
23andMers387906639
23andMe allrs387906639
SNP Nexus

SNPshotrs387906639
SNPdbers387906639
MSV3drs387906639
GWAS Ctlgrs387906639
Max Magnitude0
ClinVar
Risk rs387906639(C;C)
Alt rs387906639(C;C)
Reference rs387906639(A;A)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene DND1 HARS
CLNDBN Usher syndrome, type 3B
Reversed 1
HGVS NC_000005.9:g.140054361T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022619.25,