chr5:141994473:G>A Detail (hg19) (FGF1)

Information

Genome

Assembly Position
hg19 chr5:141,994,473-141,994,473
hg38 chr5:142,614,908-142,614,908 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001144892.2:c.-34-747C>T
NM_001257212.1:c.-34-747C>T
NM_033136.3:c.-34-747C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.400
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 131220 OMIM
HGNC 3665 HGNC
Ensembl ENSG00000113578 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23066604 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
0.230 Malignant neoplasm of breast Our findings show a suggestively stronger association between FGFR2 rs2981582 an... BeFree 23143756 Detail
0.240 Malignant neoplasm of breast Our findings show a suggestively stronger association between FGFR2 rs2981582 an... BeFree 23143756 Detail
0.031 breast carcinoma Our findings show a suggestively stronger association between FGFR2 rs2981582 an... BeFree 23143756 Detail
0.080 breast carcinoma Our findings show a suggestively stronger association between FGFR2 rs2981582 an... BeFree 23143756 Detail
Annotation

Annotations

DescrptionSourceLinks
Our findings show a suggestively stronger association between FGFR2 rs2981582 and ER-positive breast... DisGeNET Detail
Our findings show a suggestively stronger association between FGFR2 rs2981582 and ER-positive breast... DisGeNET Detail
Our findings show a suggestively stronger association between FGFR2 rs2981582 and ER-positive breast... DisGeNET Detail
Our findings show a suggestively stronger association between FGFR2 rs2981582 and ER-positive breast... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs250108 dbSNP
Genome
hg19
Position
chr5:141,994,473-141,994,473
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))
rs250108
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3997
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6699
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser