chr2:234107954:A>G Detail (hg19) (INPP5D)

Information

Genome

Assembly Position
hg19 chr2:234,107,954-234,107,954
hg38 chr2:233,199,308-233,199,308 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001017915.2:c.2884+932A>G
NM_005541.4:c.2884+932A>G
Ensemble ENST00000359570.9:c.2884+932A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 601582 OMIM
HGNC 6079 HGNC
Ensembl ENSG00000168918 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10902141 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
0.095 Hepatitis C, Chronic The set of odds ratios of studies demonstrated an association between SNP (rs129... BeFree 21382156 Detail
Annotation

Annotations

DescrptionSourceLinks
The set of odds ratios of studies demonstrated an association between SNP (rs12987960/rs8099917) in ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12987960 dbSNP
Genome
hg19
Position
chr2:234,107,954-234,107,954
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))
rs12987960
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0003
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16728
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