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rs387907016

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907016(A;A)
Make rs387907016(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122022075
GeneILDR1
is asnp
is mentioned by
dbSNPrs387907016
dbSNP (classic)rs387907016
ClinGenrs387907016
ebirs387907016
HLIrs387907016
Exacrs387907016
Gnomadrs387907016
Varsomers387907016
LitVarrs387907016
Maprs387907016
PheGenIrs387907016
Biobankrs387907016
1000 genomesrs387907016
hgdprs387907016
ensemblrs387907016
geneviewrs387907016
scholarrs387907016
googlers387907016
pharmgkbrs387907016
gwascentralrs387907016
openSNPrs387907016
23andMers387907016
SNPshotrs387907016
SNPdbers387907016
MSV3drs387907016
GWAS Ctlgrs387907016
Max Magnitude0
ClinVar
Risk rs387907016(A;A)
Alt rs387907016(A;A)
Reference Rs387907016(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene ILDR1
CLNDBN Deafness, autosomal recessive 42
Reversed 1
HGVS NC_000003.11:g.121740922C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023782.3,