chr7:12244161:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr7:12,283,787-12,283,787 View the variant detail on this assembly version.
hg38 chr7:12,244,161-12,244,161

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.602
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
0.006 motor neuron disease We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD p... BeFree 24385136 Detail
<0.001 motor neuron disease We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD p... BeFree 24385136 Detail
0.002 frontotemporal dementia Association of TMEM106B rs1990622 marker and frontotemporal dementia: evidence f... BeFree 25096617 Detail
0.282 frontotemporal dementia Previous reports have shown that TMEM106B is a genetic modifier of FTLD-TDP caus... BeFree 24442578 Detail
0.001 Pick Disease of the Brain Association of TMEM106B rs1990622 marker and frontotemporal dementia: evidence f... BeFree 25096617 Detail
<0.001 Hippocampal sclerosis For SNPs previously linked to hippocampal sclerosis, meta-analyses of Stage I re... BeFree 24770881 Detail
0.004 GRN-related frontotemporal dementia Transmembrane Protein 106B SNP rs1990622 was recently shown to modify the risk o... BeFree 25096617 Detail
0.440 Alzheimer's disease We hypothesize that rs1990622 or another variant in linkage disequilibrium could... BeFree 21220649 Detail
0.002 frontotemporal dementia Previous reports have shown that TMEM106B is a genetic modifier of FTLD-TDP caus... BeFree 24442578 Detail
0.004 GRN-related frontotemporal dementia Recent large genome-wide association studies have found variants in TMEM106B (to... BeFree 24166182 Detail
0.004 GRN-related frontotemporal dementia We investigated the rs1990622 polymorphism in relation to regional brain volumes... BeFree 24731779 Detail
0.129 Frontotemporal Lobar Degeneration [Common variants at 7p21 are associated with frontotemporal lobar degeneration w... GAD 20154673 Detail
0.129 Frontotemporal Lobar Degeneration We investigated the rs1990622 polymorphism in relation to regional brain volumes... BeFree 24731779 Detail
0.043 frontotemporal dementia Intriguingly, the genotype that confers increased risk for developing FTLD-TDP (... BeFree 24442578 Detail
0.129 Frontotemporal Lobar Degeneration Recent large genome-wide association studies have found variants in TMEM106B (to... BeFree 24166182 Detail
0.129 Frontotemporal Lobar Degeneration Transmembrane Protein 106B SNP rs1990622 was recently shown to modify the risk o... BeFree 25096617 Detail
Annotation

Annotations

DescrptionSourceLinks
We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9OR... DisGeNET Detail
We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9OR... DisGeNET Detail
Association of TMEM106B rs1990622 marker and frontotemporal dementia: evidence for a recessive effec... DisGeNET Detail
Previous reports have shown that TMEM106B is a genetic modifier of FTLD-TDP caused by progranulin (G... DisGeNET Detail
Association of TMEM106B rs1990622 marker and frontotemporal dementia: evidence for a recessive effec... DisGeNET Detail
For SNPs previously linked to hippocampal sclerosis, meta-analyses of Stage I results show OR = 1.16... DisGeNET Detail
Transmembrane Protein 106B SNP rs1990622 was recently shown to modify the risk of frontotemporal lob... DisGeNET Detail
We hypothesize that rs1990622 or another variant in linkage disequilibrium could act in a manner sim... DisGeNET Detail
Previous reports have shown that TMEM106B is a genetic modifier of FTLD-TDP caused by progranulin (G... DisGeNET Detail
Recent large genome-wide association studies have found variants in TMEM106B (top SNP rs1990622) as ... DisGeNET Detail
We investigated the rs1990622 polymorphism in relation to regional brain volumes to identify potenti... DisGeNET Detail
[Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusion... DisGeNET Detail
We investigated the rs1990622 polymorphism in relation to regional brain volumes to identify potenti... DisGeNET Detail
Intriguingly, the genotype that confers increased risk for developing FTLD-TDP (major, or T, allele ... DisGeNET Detail
Recent large genome-wide association studies have found variants in TMEM106B (top SNP rs1990622) as ... DisGeNET Detail
Transmembrane Protein 106B SNP rs1990622 was recently shown to modify the risk of frontotemporal lob... DisGeNET Detail
Gene
-
dbSNP
rs1990622 dbSNP
Genome
hg38
Position
chr7:12,244,161-12,244,161
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs1990622
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6024
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10095
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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