Have questions? Visit https://www.reddit.com/r/SNPedia

rs387907017

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907017(C;T)
Make rs387907017(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122001371
GeneILDR1
is asnp
is mentioned by
dbSNPrs387907017
ebirs387907017
HLIrs387907017
Exacrs387907017
Varsomers387907017
Maprs387907017
PheGenIrs387907017
hapmaprs387907017
1000 genomesrs387907017
hgdprs387907017
ensemblrs387907017
gopubmedrs387907017
geneviewrs387907017
scholarrs387907017
googlers387907017
pharmgkbrs387907017
gwascentralrs387907017
openSNPrs387907017
23andMers387907017
23andMe allrs387907017
SNP Nexus

SNPshotrs387907017
SNPdbers387907017
MSV3drs387907017
GWAS Ctlgrs387907017
Max Magnitude0
ClinVar
Risk rs387907017(T;T)
Alt rs387907017(T;T)
Reference rs387907017(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene ILDR1
CLNDBN Deafness, autosomal recessive 42
Reversed 1
HGVS NC_000003.11:g.121720218G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023783.2,