chr2:25161964:T>C Detail (hg38) (POMC)

Information

Genome

Assembly Position
hg19 chr2:25,384,833-25,384,833 View the variant detail on this assembly version.
hg38 chr2:25,161,964-25,161,964

HGVS

Type Transcript Protein
RefSeq NM_001035256.2:c.133-212A>G
NM_001319204.1:c.133-212A>G
NM_000939.3:c.133-212A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.675
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 176830 OMIM
HGNC 9201 HGNC
Ensembl ENSG00000115138 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv6175597 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-12 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Chronic schizophrenia Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs38573... BeFree 24564533 Detail
<0.001 Chronic schizophrenia Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs38573... BeFree 24564533 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000939.4(POMC):c.133-212A>G AND not provided ClinVar Detail
Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs3857384, rs11575893, rs16... DisGeNET Detail
Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs3857384, rs11575893, rs16... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6713532 dbSNP
Genome
hg38
Position
chr2:25,161,964-25,161,964
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))
rs6713532
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6747
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11308
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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