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rs387907015

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907015(G;T)
Make rs387907015(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position121993614
GeneILDR1
is asnp
is mentioned by
dbSNPrs387907015
ebirs387907015
HLIrs387907015
Exacrs387907015
Varsomers387907015
Maprs387907015
PheGenIrs387907015
hapmaprs387907015
1000 genomesrs387907015
hgdprs387907015
ensemblrs387907015
gopubmedrs387907015
geneviewrs387907015
scholarrs387907015
googlers387907015
pharmgkbrs387907015
gwascentralrs387907015
openSNPrs387907015
23andMers387907015
23andMe allrs387907015
SNP Nexus

SNPshotrs387907015
SNPdbers387907015
MSV3drs387907015
GWAS Ctlgrs387907015
Max Magnitude0
ClinVar
Risk rs387907015(T;T)
Alt rs387907015(T;T)
Reference rs387907015(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene ILDR1
CLNDBN Deafness, autosomal recessive 42
Reversed 1
HGVS NC_000003.11:g.121712461C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023781.2,