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rs387907001

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907001(A;A)
Make rs387907001(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position3589892
GeneGIPC3
is asnp
is mentioned by
dbSNPrs387907001
dbSNP (classic)rs387907001
ClinGenrs387907001
ebirs387907001
HLIrs387907001
Exacrs387907001
Gnomadrs387907001
Varsomers387907001
LitVarrs387907001
Maprs387907001
PheGenIrs387907001
Biobankrs387907001
1000 genomesrs387907001
hgdprs387907001
ensemblrs387907001
geneviewrs387907001
scholarrs387907001
googlers387907001
pharmgkbrs387907001
gwascentralrs387907001
openSNPrs387907001
23andMers387907001
SNPshotrs387907001
SNPdbers387907001
MSV3drs387907001
GWAS Ctlgrs387907001
Max Magnitude0
ClinVar
Risk rs387907001(A;A)
Alt rs387907001(A;A)
Reference Rs387907001(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene GIPC3
CLNDBN Deafness, autosomal recessive 15
Reversed 0
HGVS NC_000019.9:g.3589890G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023735.2,