chr10:121574943:G>A Detail (hg38) (FGFR2)

Information

Genome

Assembly Position
hg19 chr10:123,334,457-123,334,457 View the variant detail on this assembly version.
hg38 chr10:121,574,943-121,574,943

HGVS

Type Transcript Protein
RefSeq NM_001144916.1:c.109+18766C>T
NM_001144918.1:c.109+18766C>T
NM_001144915.1:c.110-10364C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.475
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 tgv40910419 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
0.010 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.006 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.166 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.031 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.230 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.170 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.240 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.080 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
Annotation

Annotations

DescrptionSourceLinks
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10736303 dbSNP
Genome
hg38
Position
chr10:121,574,943-121,574,943
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))
rs10736303
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4753
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7966
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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