chr12:68548223:T>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr12:68,548,223-68,548,223
hg38 chr12:68,154,443-68,154,443 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.107
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 malaria The TA11CAG haplotype (rs2069705 T/C, rs2430561 A/T, rs3138557 (CA)n, rs2069718 ... BeFree 25445652 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 Likewise, the male-specific protective association of interferon-gamma (IFNG) SN... BeFree 21067287 Detail
Annotation

Annotations

DescrptionSourceLinks
The TA11CAG haplotype (rs2069705 T/C, rs2430561 A/T, rs3138557 (CA)n, rs2069718 T/C, rs2069727 A/G, ... DisGeNET Detail
Likewise, the male-specific protective association of interferon-gamma (IFNG) SNP rs2069727 in MS wa... DisGeNET Detail
Gene
-
dbSNP
rs2069727 dbSNP
Genome
hg19
Position
chr12:68,548,223-68,548,223
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))
rs2069727
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1068
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1790
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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