chr10:95038791:C>T Detail (hg38) (CYP2C8)

Information

Genome

Assembly Position
hg19 chr10:96,798,548-96,798,548 View the variant detail on this assembly version.
hg38 chr10:95,038,791-95,038,791

HGVS

Type Transcript Protein
RefSeq NM_000770.3:c.1291+106G>A
NM_001198854.1:c.985+106G>A
NM_001198853.1:c.1081+106G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.445
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 601129 OMIM
HGNC 2622 HGNC
Ensembl ENSG00000138115 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40266648 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 anemia Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated ... BeFree 25495407 Detail
<0.001 neuropathy Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated ... BeFree 25495407 Detail
0.003 multiple myeloma The results indicated that AA and AG genotypes of CYP2C8 (rs1934951) might be pr... BeFree 23171856 Detail
0.002 Bone necrosis [Bisphosphonate-related osteonecrosis of the jaw is associated with polymorphism... GAD 18594024 Detail
<0.001 anemia Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated ... BeFree 25495407 Detail
0.001 neuropathy Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated ... BeFree 25495407 Detail
Annotation

Annotations

DescrptionSourceLinks
Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated with anemia; and ERC... DisGeNET Detail
Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated with anemia; and ERC... DisGeNET Detail
The results indicated that AA and AG genotypes of CYP2C8 (rs1934951) might be predictors for multipl... DisGeNET Detail
[Bisphosphonate-related osteonecrosis of the jaw is associated with polymorphisms of the cytochrome ... DisGeNET Detail
Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated with anemia; and ERC... DisGeNET Detail
Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated with anemia; and ERC... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1934951 dbSNP
Genome
hg38
Position
chr10:95,038,791-95,038,791
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs1934951
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4454
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7465
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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