chr19:51727962:C>A Detail (hg19)

Information

Genome

Assembly Position
hg19 chr19:51,727,962-51,727,962
hg38 chr19:51,224,706-51,224,706 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:0.194
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
0.120 Impaired cognition The incident case study comparing patients who developed AD during longitudinal ... BeFree 24176626 Detail
<0.001 Impaired cognition Our prevalent case study comparing prevalent AD cases (n = 428) with participant... BeFree 24176626 Detail
0.200 Impaired cognition Our prevalent case study comparing prevalent AD cases (n = 428) with participant... BeFree 24176626 Detail
<0.001 Impaired cognition The incident case study comparing patients who developed AD during longitudinal ... BeFree 24176626 Detail
0.245 Alzheimer's disease [Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late... GAD 21460841 Detail
0.245 Alzheimer's disease Association of CD33 polymorphism rs3865444 with Alzheimer's disease pathology an... BeFree 25448602 Detail
0.245 Alzheimer's disease Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-... GWASCAT 21460841 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
The incident case study comparing patients who developed AD during longitudinal observation (n = 152... DisGeNET Detail
Our prevalent case study comparing prevalent AD cases (n = 428) with participants with no cognitive ... DisGeNET Detail
Our prevalent case study comparing prevalent AD cases (n = 428) with participants with no cognitive ... DisGeNET Detail
The incident case study comparing patients who developed AD during longitudinal observation (n = 152... DisGeNET Detail
[Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer\'s ... DisGeNET Detail
Association of CD33 polymorphism rs3865444 with Alzheimer's disease pathology and CD33 expression in... DisGeNET Detail
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's di... DisGeNET Detail
Gene
-
dbSNP
rs3865444 dbSNP
Genome
hg19
Position
chr19:51,727,962-51,727,962
Variant Type
snv
Reference Allele
C
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))
rs3865444
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1942
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3255
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser