chr3:39523003:T>C Detail (hg19) (MOBP)

Information

Genome

Assembly Position
hg19 chr3:39,523,003-39,523,003
hg38 chr3:39,481,512-39,481,512 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_182935.3:c.-5+1389T>C
NM_001278323.1:c.-71+13772T>C
Ensemble ENST00000383754.7:c.-5+1389T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.420
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 600948 OMIM
HGNC 7189 HGNC
Ensembl ENSG00000168314 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv12139871 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
0.243 progressive supranuclear palsy We found significant previously unidentified signals (P < 5 × 10(-8)) associa... GWASCAT 21685912 Detail
0.243 progressive supranuclear palsy [We found significant previously unidentified signals (P < 5 A 10(-8)) associate... GAD 21685912 Detail
0.209 Tauopathies Eighty-one patients with sporadic bvFTD were genotyped for tauopathy-associated ... BeFree 24994843 Detail
Annotation

Annotations

DescrptionSourceLinks
We found significant previously unidentified signals (P &lt; 5 × 10(-8)) associated with PSP risk at... DisGeNET Detail
[We found significant previously unidentified signals (P < 5 A 10(-8)) associated with PSP risk at S... DisGeNET Detail
Eighty-one patients with sporadic bvFTD were genotyped for tauopathy-associated SNPs at rs8070723 (m... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1768208 dbSNP
Genome
hg19
Position
chr3:39,523,003-39,523,003
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs1768208
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4196
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7033
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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