chr2:169015914:C>T Detail (hg19) (STK39)

Information

Genome

Assembly Position
hg19 chr2:169,015,914-169,015,914
hg38 chr2:168,159,404-168,159,404 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_013233.2:c.628+2383G>A
Ensemble ENST00000355999.5:c.628+2383G>A
ENST00000697205.1:c.628+2383G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.189
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 607648 OMIM
HGNC 17717 HGNC
Ensembl ENSG00000198648 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv9406111 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
0.333 Hypertensive disease The present study confirmed the significant association of ATP2B1 rs17249754 wit... BeFree 23759979 Detail
0.012 Hypertensive disease The present study confirmed the significant association of ATP2B1 rs17249754 wit... BeFree 23759979 Detail
<0.001 Overweight Only STK39 rs3754777 was significantly associated with higher DBP (P = 0.02) in ... BeFree 23591986 Detail
Annotation

Annotations

DescrptionSourceLinks
The present study confirmed the significant association of ATP2B1 rs17249754 with risk of hypertensi... DisGeNET Detail
The present study confirmed the significant association of ATP2B1 rs17249754 with risk of hypertensi... DisGeNET Detail
Only STK39 rs3754777 was significantly associated with higher DBP (P = 0.02) in the overweight subje... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3754777 dbSNP
Genome
hg19
Position
chr2:169,015,914-169,015,914
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))
rs3754777
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1892
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3171
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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