chr11:85868640:T>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr11:85,868,640-85,868,640
hg38 chr11:86,157,598-86,157,598 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.593
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 obesity (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125... BeFree 24788522 Detail
<0.001 obesity (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125... BeFree 24788522 Detail
<0.001 obesity (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125... BeFree 24788522 Detail
0.196 obesity (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125... BeFree 24788522 Detail
0.002 Alzheimer Disease, Late Onset PICALM-rs3851179-G had an unexpected protective effect on incident MCI/LOAD. BeFree 25189118 Detail
0.269 Alzheimer's disease [Genome-wide association study identifies variants at CLU and PICALM associated ... GAD 19734902 Detail
<0.001 Mild cognitive disorder PICALM-rs3851179-G had an unexpected protective effect on incident MCI/LOAD. BeFree 25189118 Detail
0.003 schizophrenia Association analysis between the rs11136000 single nucleotide polymorphism in cl... BeFree 20738160 Detail
0.287 Alzheimer's disease In addition, the rs541458 and rs3851179 of PICALM SNPs are not related to develo... BeFree 26434199 Detail
0.262 Alzheimer's disease We investigated the influence of the rs6656401 single nucleotide polymorphisms (... BeFree 23650005 Detail
0.269 Alzheimer's disease In addition, the rs541458 and rs3851179 of PICALM SNPs are not related to develo... BeFree 26434199 Detail
Annotation

Annotations

DescrptionSourceLinks
(2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI ... DisGeNET Detail
(2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI ... DisGeNET Detail
(2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI ... DisGeNET Detail
(2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI ... DisGeNET Detail
PICALM-rs3851179-G had an unexpected protective effect on incident MCI/LOAD. DisGeNET Detail
[Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer\'s di... DisGeNET Detail
PICALM-rs3851179-G had an unexpected protective effect on incident MCI/LOAD. DisGeNET Detail
Association analysis between the rs11136000 single nucleotide polymorphism in clusterin gene, rs3851... DisGeNET Detail
In addition, the rs541458 and rs3851179 of PICALM SNPs are not related to development of BPSD, but t... DisGeNET Detail
We investigated the influence of the rs6656401 single nucleotide polymorphisms (SNP) of the CR1 gene... DisGeNET Detail
In addition, the rs541458 and rs3851179 of PICALM SNPs are not related to development of BPSD, but t... DisGeNET Detail
Gene
-
dbSNP
rs3851179 dbSNP
Genome
hg19
Position
chr11:85,868,640-85,868,640
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))
rs3851179
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5928
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9934
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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