chr22:20127554:A>G Detail (hg19) (ZDHHC8)

Information

Genome

Assembly Position
hg19 chr22:20,127,554-20,127,554
hg38 chr22:20,140,031-20,140,031 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_013373.3:c.558-84A>G
NM_001185024.1:c.558-84A>G
Ensemble ENST00000320602.11:c.384+396A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.608
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 608784 OMIM
HGNC 18474 HGNC
Ensembl ENSG00000099904 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65388687 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
0.097 schizophrenia For further support from within the Han Chinese ethnic group, we selected two si... BeFree 18075473 Detail
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
0.097 schizophrenia No association between the putative functional ZDHHC8 single nucleotide polymorp... BeFree 15992527 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
Annotation

Annotations

DescrptionSourceLinks
For further support from within the Han Chinese ethnic group, we selected two single nucleotide poly... 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
No association between the putative functional ZDHHC8 single nucleotide polymorphism rs175174 and sc... 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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs175174 dbSNP
Genome
hg19
Position
chr22:20,127,554-20,127,554
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))
rs175174
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6082
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10191
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
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