chr17:44019712:G>A Detail (hg19) (MAPT)

Information

Genome

Assembly Position
hg19 chr17:44,019,712-44,019,712
hg38 chr17:45,942,346-45,942,346 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_016835.4:c.-17-19975G>A
NM_001123066.3:c.-17-19975G>A
NM_001203251.1: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
Links
Type Database ID Link
Gene MIM 157140 OMIM
HGNC 6893 HGNC
Ensembl ENSG00000186868 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57935105 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 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

DescrptionSourceLinks
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
hg19
Position
chr17:44,019,712-44,019,712
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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