chr10:121575416:G>A Detail (hg38) (FGFR2)

Information

Genome

Assembly Position
hg19 chr10:123,334,930-123,334,930 View the variant detail on this assembly version.
hg38 chr10:121,575,416-121,575,416

HGVS

Type Transcript Protein
RefSeq NM_001144916.1:c.109+18293C>T
NM_001144918.1:c.109+18293C>T
NM_001144915.1:c.110-10837C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.306
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 176943 OMIM
HGNC 3689 HGNC
Ensembl ENSG00000066468 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40910425 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
0.031 breast carcinoma Five SNPs associated with breast cancer risk predominantly among ER-positive tum... BeFree 22965832 Detail
0.080 breast carcinoma Five SNPs associated with breast cancer risk predominantly among ER-positive tum... BeFree 22965832 Detail
0.240 Malignant neoplasm of breast Five SNPs associated with breast cancer risk predominantly among ER-positive tum... BeFree 22965832 Detail
0.230 Malignant neoplasm of breast Five SNPs associated with breast cancer risk predominantly among ER-positive tum... BeFree 22965832 Detail
Annotation

Annotations

DescrptionSourceLinks
Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2... DisGeNET Detail
Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2... DisGeNET Detail
Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2... DisGeNET Detail
Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11200014 dbSNP
Genome
hg38
Position
chr10:121,575,416-121,575,416
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))
rs11200014
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3064
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5135
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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