chr17:45942346:G>A Detail (hg38) (MAPT)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:44,019,712-44,019,712 View the variant detail on this assembly version. |
hg38 | chr17:45,942,346-45,942,346 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_016835.4:c.-17-19975G>A | |
NM_001123066.3:c.-17-19975G>A | ||
NM_005910.5:c.-17-19975G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.447 | |
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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.001 | Diabetes Mellitus, Insulin-Dependent | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
<0.001 | ulcerative colitis | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
0.006 | Diabetes Mellitus, Insulin-Dependent | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
<0.001 | Diabetes Mellitus, Insulin-Dependent | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
0.121 | ulcerative colitis | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
<0.001 | ulcerative colitis | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
0.123 | progressive supranuclear palsy | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
<0.001 | progressive supranuclear palsy | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
0.558 | progressive supranuclear palsy | [We confirmed two independent variants in MAPT affecting risk for PSP, one of wh... | GAD | 21685912 | Detail |
0.558 | progressive supranuclear palsy | We confirmed two independent variants in MAPT affecting risk for PSP, one of whi... | GWASCAT | 21685912 | Detail |
0.342 | Parkinson disease | High cerebrospinal tau levels are associated with the rs242557 tau gene variant ... | BeFree | 20951764 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
[We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT ... | DisGeNET | Detail |
We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT b... | DisGeNET | Detail |
High cerebrospinal tau levels are associated with the rs242557 tau gene variant and low cerebrospina... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs242557 dbSNP
- Genome
- hg38
- Position
- chr17:45,942,346-45,942,346
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs242557
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4473
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7497
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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