chr2:232532815:T>G Detail (hg38) (CHRND)

Information

Genome

Assembly Position
hg19 chr2:233,397,525-233,397,525 View the variant detail on this assembly version.
hg38 chr2:232,532,815-232,532,815

HGVS

Type Transcript Protein
RefSeq NM_000751.2:c.1048-1116T>G
NM_001256657.1:c.1003-1116T>G
NM_001311195.1:c.1003-1116T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.353
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 100720 OMIM
HGNC 1965 HGNC
Ensembl ENSG00000135902 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10881327 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
0.133 nicotine dependence Here we test the hypothesis that the nicotinic receptor genes CHRNA5 (rs16969968... BeFree 20840187 Detail
0.006 nicotine dependence Here we test the hypothesis that the nicotinic receptor genes CHRNA5 (rs16969968... BeFree 20840187 Detail
<0.001 nicotine dependence Here we test the hypothesis that the nicotinic receptor genes CHRNA5 (rs16969968... BeFree 20840187 Detail
Annotation

Annotations

DescrptionSourceLinks
Here we test the hypothesis that the nicotinic receptor genes CHRNA5 (rs16969968), CHRNA3 (rs578776)... DisGeNET Detail
Here we test the hypothesis that the nicotinic receptor genes CHRNA5 (rs16969968), CHRNA3 (rs578776)... DisGeNET Detail
Here we test the hypothesis that the nicotinic receptor genes CHRNA5 (rs16969968), CHRNA3 (rs578776)... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12466358 dbSNP
Genome
hg38
Position
chr2:232,532,815-232,532,815
Variant Type
snv
Reference Allele
T
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))
rs12466358
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3527
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5911
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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