chr7:127636958:C>T Detail (hg19) (SND1)

Information

Genome

Assembly Position
hg19 chr7:127,636,958-127,636,958
hg38 chr7:127,996,905-127,996,905 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_014390.2:c.1779+5849C>T
Ensemble ENST00000354725.8:c.1779+5849C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.081
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 602181 OMIM
HGNC 30646 HGNC
Ensembl ENSG00000197157 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30920723 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 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
Annotation

Annotations

DescrptionSourceLinks
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17676986 dbSNP
Genome
hg19
Position
chr7:127,636,958-127,636,958
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))
rs17676986
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0808
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1354
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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