chr7:92246744:C>G Detail (hg19) (CDK6)

Information

Genome

Assembly Position
hg19 chr7:92,246,744-92,246,744
hg38 chr7:92,617,430-92,617,430 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001259.6:c.834+642G>C
NM_001145306.1:c.834+642G>C
Ensemble ENST00000265734.8:c.834+642G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.026
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 603368 OMIM
HGNC 1777 HGNC
Ensembl ENSG00000105810 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30118397 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
0.255 rheumatoid arthritis However, there was no evidence for association of rs42041 (CDK6) and rs6682654 (... BeFree 19435719 Detail
0.255 rheumatoid arthritis The TT and CC/CG genotypes of 2 single-nucleotide polymorphisms, rs4810485 (CD40... BeFree 19644859 Detail
0.255 rheumatoid arthritis [Common variants at CD40 and other loci confer risk of rheumatoid arthritis.] GAD 18794853 Detail
0.249 rheumatoid arthritis However, there was no evidence for association of rs42041 (CDK6) and rs6682654 (... BeFree 19435719 Detail
Annotation

Annotations

DescrptionSourceLinks
However, there was no evidence for association of rs42041 (CDK6) and rs6682654 (CD244) with RA susce... DisGeNET Detail
The TT and CC/CG genotypes of 2 single-nucleotide polymorphisms, rs4810485 (CD40) and rs42041 (CDK6)... DisGeNET Detail
[Common variants at CD40 and other loci confer risk of rheumatoid arthritis.] DisGeNET Detail
However, there was no evidence for association of rs42041 (CDK6) and rs6682654 (CD244) with RA susce... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs42041 dbSNP
Genome
hg19
Position
chr7:92,246,744-92,246,744
Variant Type
snv
Reference Allele
C
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))
rs42041
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0264
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
443
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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