chr1:10325413:A>G Detail (hg38) (KIF1B)

Information

Genome

Assembly Position
hg19 chr1:10,385,471-10,385,471 View the variant detail on this assembly version.
hg38 chr1:10,325,413-10,325,413

HGVS

Type Transcript Protein
RefSeq NM_015074.3:c.2537+518A>G
Ensemble ENST00000263934.10:c.2537+518A>G
ENST00000377081.5:c.2675+518A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.237
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 605995 OMIM
HGNC 16636 HGNC
Ensembl ENSG00000054523 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv330122 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
<0.001 Hepatitis B Virus-Related Hepatocellular Carcinoma Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... BeFree 24204805 Detail
0.124 liver carcinoma [Our findings provide evidence that the 1p36.22 locus confers susceptibility to ... GAD 20676096 Detail
<0.001 Hepatitis B Virus-Related Hepatocellular Carcinoma Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... BeFree 24204805 Detail
0.001 hepatitis B Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... BeFree 24204805 Detail
0.011 hepatitis B Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... BeFree 24204805 Detail
<0.001 Hepatitis B Virus-Related Hepatocellular Carcinoma Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... BeFree 24204805 Detail
<0.001 hepatitis C Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... BeFree 24204805 Detail
0.124 liver carcinoma Association between KIF1B rs17401966 polymorphism and hepatocellular carcinoma r... BeFree 24952890 Detail
<0.001 Hepatitis B Virus-Related Hepatocellular Carcinoma Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... BeFree 24204805 Detail
<0.001 hepatitis C Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... BeFree 24204805 Detail
0.001 hepatitis B A recent genome-wide association study (GWAS) using chronic HBV (hepatitis B vir... BeFree 22712471 Detail
<0.001 Hepatitis B Virus-Related Hepatocellular Carcinoma Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... BeFree 24204805 Detail
0.124 liver carcinoma We identified one intronic SNP (rs17401966) in KIF1B on chromosome 1p36.22 that ... BeFree 20676096 Detail
0.032 hepatitis C Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... BeFree 24204805 Detail
0.124 liver carcinoma A recent genome-wide association study (GWAS) using chronic HBV (hepatitis B vir... BeFree 22712471 Detail
0.124 liver carcinoma Our findings provide evidence that the 1p36.22 locus confers susceptibility to H... GWASCAT 20676096 Detail
0.004 hepatitis C Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... BeFree 24204805 Detail
<0.001 Hepatitis B Virus-Related Hepatocellular Carcinoma Recently, a genome-wide association study conducted in Chinese reported a single... BeFree 25153661 Detail
0.001 hepatitis B Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... BeFree 24204805 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... DisGeNET Detail
[Our findings provide evidence that the 1p36.22 locus confers susceptibility to HBV-related HCC, and... DisGeNET Detail
Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... DisGeNET Detail
Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... DisGeNET Detail
Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... DisGeNET Detail
Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... DisGeNET Detail
Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... DisGeNET Detail
Association between KIF1B rs17401966 polymorphism and hepatocellular carcinoma risk: a meta-analysis... DisGeNET Detail
Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... DisGeNET Detail
Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... DisGeNET Detail
A recent genome-wide association study (GWAS) using chronic HBV (hepatitis B virus) carriers with an... DisGeNET Detail
Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... DisGeNET Detail
We identified one intronic SNP (rs17401966) in KIF1B on chromosome 1p36.22 that was highly associate... DisGeNET Detail
Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... DisGeNET Detail
A recent genome-wide association study (GWAS) using chronic HBV (hepatitis B virus) carriers with an... DisGeNET Detail
Our findings provide evidence that the 1p36.22 locus confers susceptibility to HBV-related HCC, and ... DisGeNET Detail
Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... DisGeNET Detail
Recently, a genome-wide association study conducted in Chinese reported a single nucleotide polymorp... DisGeNET Detail
Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17401966 dbSNP
Genome
hg38
Position
chr1:10,325,413-10,325,413
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))
rs17401966
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2368
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3969
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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