chr1:236179869:A>G Detail (hg19) (NID1)

Information

Genome

Assembly Position
hg19 chr1:236,179,869-236,179,869
hg38 chr1:236,016,569-236,016,569 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002508.2:c.2254+579T>C
Ensemble ENST00000264187.7:c.2254+579T>C
ENST00000366595.7:c.2128+7501T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.685
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 131390 OMIM
HGNC 7821 HGNC
Ensembl ENSG00000116962 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5265620 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
0.002 Nevi and Melanomas [Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility l... GAD 21478494 Detail
<0.001 Melanocytic nevus of skin We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two... BeFree 21478494 Detail
<0.001 Melanocytic nevus We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two... BeFree 21478494 Detail
<0.001 Nevus We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two... BeFree 21478494 Detail
<0.001 Benign melanocytic nevus We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two... BeFree 21478494 Detail
Annotation

Annotations

DescrptionSourceLinks
[Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous ne... DisGeNET Detail
We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two linked single nucle... DisGeNET Detail
We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two linked single nucle... DisGeNET Detail
We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two linked single nucle... DisGeNET Detail
We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two linked single nucle... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3768080 dbSNP
Genome
hg19
Position
chr1:236,179,869-236,179,869
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))
rs3768080
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6853
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11485
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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