chr22:19479363:T>C Detail (hg38) (UFD1)

Information

Genome

Assembly Position
hg19 chr22:19,466,886-19,466,886 View the variant detail on this assembly version.
hg38 chr22:19,479,363-19,479,363

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.325
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-05-17 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 DiGeorge syndrome The increased volumes in the genu, splenium and total CC in the 22q11DS group we... BeFree 22763378 Detail
0.121 Shprintzen syndrome The increased volumes in the genu, splenium and total CC in the 22q11DS group we... BeFree 22763378 Detail
0.280 DiGeorge syndrome The increased volumes in the genu, splenium and total CC in the 22q11DS group we... BeFree 22763378 Detail
0.135 Shprintzen syndrome The increased volumes in the genu, splenium and total CC in the 22q11DS group we... BeFree 22763378 Detail
<0.001 Shprintzen syndrome The increased volumes in the genu, splenium and total CC in the 22q11DS group we... BeFree 22763378 Detail
<0.001 DiGeorge syndrome The increased volumes in the genu, splenium and total CC in the 22q11DS group we... BeFree 22763378 Detail
0.011 schizophrenia [The UFD1L rs5992403 polymorphism is associated with age at onset of schizophren... GAD 20471029 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000022.11:g.19479363T>C AND not provided ClinVar Detail
The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with p... DisGeNET Detail
The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with p... DisGeNET Detail
The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with p... DisGeNET Detail
The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with p... DisGeNET Detail
The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with p... DisGeNET Detail
The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with p... DisGeNET Detail
[The UFD1L rs5992403 polymorphism is associated with age at onset of schizophrenia.] DisGeNET Detail
Gene
-
dbSNP
rs5992403 dbSNP
Genome
hg38
Position
chr22:19,479,363-19,479,363
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))
rs5992403
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3248
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5443
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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