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rs387907002

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907002(C;T)
Make rs387907002(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position3586967
GeneGIPC3
is asnp
is mentioned by
dbSNPrs387907002
ebirs387907002
HLIrs387907002
Exacrs387907002
Varsomers387907002
Maprs387907002
PheGenIrs387907002
hapmaprs387907002
1000 genomesrs387907002
hgdprs387907002
ensemblrs387907002
gopubmedrs387907002
geneviewrs387907002
scholarrs387907002
googlers387907002
pharmgkbrs387907002
gwascentralrs387907002
openSNPrs387907002
23andMers387907002
23andMe allrs387907002
SNP Nexus

SNPshotrs387907002
SNPdbers387907002
MSV3drs387907002
GWAS Ctlgrs387907002
Max Magnitude0
ClinVar
Risk rs387907002(T;T)
Alt rs387907002(T;T)
Reference Rs387907002(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene GIPC3
CLNDBN Deafness, autosomal recessive 15
Reversed 0
HGVS NC_000019.9:g.3586965C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023737.2,