chr9:75517311:A>G Detail (hg19) (ALDH1A1)

Information

Genome

Assembly Position
hg19 chr9:75,517,311-75,517,311
hg38 chr9:72,902,395-72,902,395 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000689.4:c.1434-1115T>C
Ensemble ENST00000297785.8:c.1434-1115T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.029
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
Type Database ID Link
Gene MIM 100640 OMIM
HGNC 402 HGNC
Ensembl ENSG00000165092 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv36393904 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 multiple myeloma In our retrospective study, we analyzed candidate single-nucleotide polymorphism... BeFree 21859556 Detail
Annotation

Annotations

DescrptionSourceLinks
In our retrospective study, we analyzed candidate single-nucleotide polymorphisms (SNP), CINP (rs701... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs168351 dbSNP
Genome
hg19
Position
chr9:75,517,311-75,517,311
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))
rs168351
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0294
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
492
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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