chr13:20767309:A>G Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,767,309-20,767,309
hg38 chr13:20,193,170-20,193,170 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.450
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-12 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.034 nonsyndromic deafness In a NSHI family, inheritance of the rs117685390 C allele segregated on independ... BeFree 23640091 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000013.11:g.20193170A>G AND not provided ClinVar Detail
In a NSHI family, inheritance of the rs117685390 C allele segregated on independent chromosomes with... DisGeNET Detail
Gene
-
dbSNP
rs117685390 dbSNP
Genome
hg19
Position
chr13:20,767,309-20,767,309
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs117685390
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4496
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7530
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16750
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