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rs770247378

From SNPedia

Orientationplus
Geno Mag Summary
(ATT;ATT) 0 common in clinvar
Make rs770247378(-;-)
Make rs770247378(-;ATT)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position34785183
GeneGJB3, LOC105378643
is asnp
is mentioned by
dbSNPrs770247378
ebirs770247378
HLIrs770247378
Exacrs770247378
Varsomers770247378
Maprs770247378
PheGenIrs770247378
hapmaprs770247378
1000 genomesrs770247378
hgdprs770247378
ensemblrs770247378
gopubmedrs770247378
geneviewrs770247378
scholarrs770247378
googlers770247378
pharmgkbrs770247378
gwascentralrs770247378
openSNPrs770247378
23andMers770247378
23andMe allrs770247378
SNP Nexus

SNPshotrs770247378
SNPdbers770247378
MSV3drs770247378
GWAS Ctlgrs770247378
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs770247378(ATT;ATT)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB3
CLNDBN Deafness, autosomal recessive
Reversed 0
HGVS NC_000001.10:g.35250784_35250786delATT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006860.4,