chr1:161017556:C>T Detail (hg19) (ARHGAP30)

Information

Genome

Assembly Position
hg19 chr1:161,017,556-161,017,556
hg38 chr1:161,047,766-161,047,766 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001287602.1:c.2724G>A NP_001274531.1:p.Arg908=
NM_001025598.1:c.3255G>A NP_001020769.1:p.Arg1085=
NM_001287600.1:c.2622G>A NP_001274529.1:p.Arg874=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.114
ToMMo:0.117
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.147

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 614264 OMIM
HGNC 27414 HGNC
Ensembl ENSG00000186517 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3510639 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Cardiovascular Diseases In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
0.065 Coronary heart disease In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
0.004 Coronary heart disease In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
0.011 Cardiovascular Diseases In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
0.003 Coronary heart disease In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
0.094 Cardiovascular Diseases In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
Annotation

Annotations

DescrptionSourceLinks
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr1:161,017,556-161,017,556
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
173.45
Standard deviation of sample read depth (HGVD)
78.20
Number of reference allele (HGVD)
2144
Number of alternative allele (HGVD)
276
Allele Frequency (HGVD)
0.1140495867768595
Gene Symbol (HGVD)
ARHGAP30
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))
rs2774279
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1168
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1958
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8570
East Asian Allele Counts (ExAC)
1261
East Asian Heterozygous Counts (ExAC)
1079
East Asian Homozygous Counts (ExAC)
91
East Asian Allele Frequency (ExAC)
0.14714119019836638
Chromosome Counts in All Race (ExAC)
112894
Allele Counts in All Race (ExAC)
31291
Heterozygous Counts in All Race (ExAC)
22041
Homozygous Counts in All Race (ExAC)
4625
Allele Frequency in All Race (ExAC)
0.2771715060144915
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