chr11:18038806:C>T Detail (hg38) (TPH1)

Information

Genome

Assembly Position
hg19 chr11:18,060,353-18,060,353 View the variant detail on this assembly version.
hg38 chr11:18,038,806-18,038,806

HGVS

Type Transcript Protein
RefSeq NM_004179.2:c.117+1840G>A
Ensemble ENST00000250018.6:c.117+1840G>A
ENST00000528338.2:c.147+1840G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.543
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 191060 OMIM
HGNC 12008 HGNC
Ensembl ENSG00000129167 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41784036 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 Ichthyosis bullosa of Siemens However, TPH1 gene SNPs were associated with IBS-related cognitions (rs4537731 a... BeFree 23172723 Detail
Annotation

Annotations

DescrptionSourceLinks
However, TPH1 gene SNPs were associated with IBS-related cognitions (rs4537731 and rs21105) and qual... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs684302 dbSNP
Genome
hg38
Position
chr11:18,038,806-18,038,806
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))
rs684302
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.543
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9100
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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