chr7:94953913:G>C Detail (hg19) (PON1, LOC129998829)

Information

Genome

Assembly Position
hg19 chr7:94,953,913-94,953,913
hg38 chr7:95,324,601-95,324,601 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:0.892
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 2021-06-19 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.125 Hypercholesterolemia, Familial In 187 patients with familial hypercholesterolemia, we studied the seven most co... BeFree 15642273 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000007.14:g.95324601G>C AND not provided ClinVar Detail
In 187 patients with familial hypercholesterolemia, we studied the seven most common single nucleoti... DisGeNET Detail
Gene
-
dbSNP
rs705380 dbSNP
Genome
hg19
Position
chr7:94,953,913-94,953,913
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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))
rs705380
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8925
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14956
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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