chr1:205775090:C>T Detail (hg38) (RAB29)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:205,744,218-205,744,218 View the variant detail on this assembly version. |
hg38 | chr1:205,775,090-205,775,090 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001135662.1:c.-130-4G>A | |
NM_003929.2:c.-130-4G>A | ||
NM_001135664.1:c.-93+183G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.355 | |
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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Parkinson disease | Recently, the rs1572931 single-nucleotide polymorphism (SNP) of the putative pro... | BeFree | 25040112 | Detail |
0.006 | Parkinson disease | An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Park... | BeFree | 25040112 | Detail |
<0.001 | multiple system atrophy | An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Park... | BeFree | 25040112 | Detail |
<0.001 | Shy-Drager Syndrome | An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Park... | BeFree | 25040112 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Recently, the rs1572931 single-nucleotide polymorphism (SNP) of the putative promoter of the member ... | DisGeNET | Detail |
An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Parkinson's disease, amy... | DisGeNET | Detail |
An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Parkinson's disease, amy... | DisGeNET | Detail |
An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Parkinson's disease, amy... | 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
- rs1572931 dbSNP
- Genome
- hg38
- Position
- chr1:205,775,090-205,775,090
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs1572931
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3554
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5957
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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