chr2:203836831:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr2:204,701,554-204,701,554 View the variant detail on this assembly version.
hg38 chr2:203,836,831-203,836,831

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.647
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
0.064 Autoimmune Diseases Association of GV with CTLA4 (rs12992492, P=5.9E-05, OR=1.20; meta-P for rs23177... BeFree 21085187 Detail
<0.001 Generalized vitiligo Association of GV with CTLA4 (rs12992492, P=5.9E-05, OR=1.20; meta-P for rs23177... BeFree 21085187 Detail
Annotation

Annotations

DescrptionSourceLinks
Association of GV with CTLA4 (rs12992492, P=5.9E-05, OR=1.20; meta-P for rs231775=1.0E-04) seems to ... DisGeNET Detail
Association of GV with CTLA4 (rs12992492, P=5.9E-05, OR=1.20; meta-P for rs231775=1.0E-04) seems to ... DisGeNET Detail
Gene
-
dbSNP
rs12992492 dbSNP
Genome
hg38
Position
chr2:203,836,831-203,836,831
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))
rs12992492
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6468
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10840
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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