chr4:99144933:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr4:100,066,084-100,066,084 View the variant detail on this assembly version.
hg38 chr4:99,144,933-99,144,933

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.736
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 Withdrawal Symptoms No evidence for association with the alcohol dependence diagnosis was observed, ... BeFree 21635275 Detail
<0.001 Withdrawal Symptoms No evidence for association with the alcohol dependence diagnosis was observed, ... BeFree 21635275 Detail
0.015 Alcoholic Intoxication, Chronic The ADH4 SNP rs3762894 was associated with AD in Plains Indians. BeFree 21083667 Detail
Annotation

Annotations

DescrptionSourceLinks
No evidence for association with the alcohol dependence diagnosis was observed, but an SNP in exon 9... DisGeNET Detail
No evidence for association with the alcohol dependence diagnosis was observed, but an SNP in exon 9... DisGeNET Detail
The ADH4 SNP rs3762894 was associated with AD in Plains Indians. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3762894 dbSNP
Genome
hg38
Position
chr4:99,144,933-99,144,933
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))
rs3762894
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7363
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12340
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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