chr11:60095631:A>G Detail (hg38) (MS4A2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:59,863,104-59,863,104 View the variant detail on this assembly version. |
hg38 | chr11:60,095,631-60,095,631 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000139.4:c.710A>G | NP_000130.1:p.Glu237Gly |
NM_001256916.1:c.575A>G | NP_001243845.1:p.Glu192Gly | |
Ensemble | ENST00000278888.8:c.710A>G | ENST00000278888.8:p.Glu237Gly |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.127 |
ToMMo:0.148 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.172 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2001-09-01 | no assertion criteria provided | RECLASSIFIED - POLYMORPHISM |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Ischemic stroke | In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108,... | BeFree | 22769019 | Detail |
<0.001 | Ischemic Cerebrovascular Accident | In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108,... | BeFree | 22769019 | Detail |
0.055 | asthma | To investigate whether the single-nucleotide polymorphisms (SNPs) Ile75Val and G... | BeFree | 22533235 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000139.5(MS4A2):c.710A>G (p.Glu237Gly) AND RECLASSIFIED - POLYMORPHISM | ClinVar | Detail |
In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108, TGFB1 rs1800469, LT... | DisGeNET | Detail |
In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108, TGFB1 rs1800469, LT... | DisGeNET | Detail |
To investigate whether the single-nucleotide polymorphisms (SNPs) Ile75Val and Gln576Arg in the IL4R... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs569108 dbSNP
- Genome
- hg38
- Position
- chr11:60,095,631-60,095,631
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1130
- Mean of sample read depth (HGVD)
- 143.22
- Standard deviation of sample read depth (HGVD)
- 66.70
- Number of reference allele (HGVD)
- 1974
- Number of alternative allele (HGVD)
- 286
- Allele Frequency (HGVD)
- 0.12654867256637167
- Gene Symbol (HGVD)
- MS4A2
- 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))
- rs569108
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.148
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2481
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8644
- East Asian Allele Counts (ExAC)
- 1483
- East Asian Heterozygous Counts (ExAC)
- 1223
- East Asian Homozygous Counts (ExAC)
- 130
- East Asian Allele Frequency (ExAC)
- 0.1715640906987506
- Chromosome Counts in All Race (ExAC)
- 121250
- Allele Counts in All Race (ExAC)
- 5879
- Heterozygous Counts in All Race (ExAC)
- 5155
- Homozygous Counts in All Race (ExAC)
- 362
- Allele Frequency in All Race (ExAC)
- 0.04848659793814433
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