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rs387906999

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906999(G;G)
Make rs387906999(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position3589910
GeneGIPC3
is asnp
is mentioned by
dbSNPrs387906999
dbSNP (classic)rs387906999
ClinGenrs387906999
ebirs387906999
HLIrs387906999
Exacrs387906999
Gnomadrs387906999
Varsomers387906999
LitVarrs387906999
Maprs387906999
PheGenIrs387906999
Biobankrs387906999
1000 genomesrs387906999
hgdprs387906999
ensemblrs387906999
geneviewrs387906999
scholarrs387906999
googlers387906999
pharmgkbrs387906999
gwascentralrs387906999
openSNPrs387906999
23andMers387906999
SNPshotrs387906999
SNPdbers387906999
MSV3drs387906999
GWAS Ctlgrs387906999
Max Magnitude0
ClinVar
Risk rs387906999(G;G)
Alt rs387906999(G;G)
Reference Rs387906999(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene GIPC3
CLNDBN Deafness, autosomal recessive 15
Reversed 0
HGVS NC_000019.9:g.3589908T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023732.2,