chr7:8678450:G>A Detail (hg38) (NXPH1)

Information

Genome

Assembly Position
hg19 chr7:8,718,080-8,718,080 View the variant detail on this assembly version.
hg38 chr7:8,678,450-8,678,450

HGVS

Type Transcript Protein
RefSeq NM_152745.2:c.55-72558G>A
Ensemble ENST00000405863.6:c.55-72558G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:1.000
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 604639 OMIM
HGNC 20693 HGNC
Ensembl ENSG00000122584 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv28267726 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 Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13,... BeFree 24041540 Detail
<0.001 irritable bowel syndrome Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13,... BeFree 24041540 Detail
0.002 NEUROTICISM [The small effect sizes may limit the prognostic, diagnostic, and therapeutic us... GAD 18762592 Detail
0.002 Neurotic Disorders [The small effect sizes may limit the prognostic, diagnostic, and therapeutic us... GAD 18762592 Detail
Annotation

Annotations

DescrptionSourceLinks
Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), o... DisGeNET Detail
Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), o... DisGeNET Detail
[The small effect sizes may limit the prognostic, diagnostic, and therapeutic use of SNP markers suc... DisGeNET Detail
[The small effect sizes may limit the prognostic, diagnostic, and therapeutic use of SNP markers suc... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2349775 dbSNP
Genome
hg38
Position
chr7:8,678,450-8,678,450
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs2349775
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9999
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16757
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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