chr16:53779455:T>G Detail (hg38) (FTO)

Information

Genome

Assembly Position
hg19 chr16:53,813,367-53,813,367 View the variant detail on this assembly version.
hg38 chr16:53,779,455-53,779,455

HGVS

Type Transcript Protein
RefSeq NM_001080432.2:c.46-30685T>G
Ensemble ENST00000471389.6:c.46-30685T>G
ENST00000636218.1:c.46-30685T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.196
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 610966 OMIM
HGNC 24678 HGNC
Ensembl ENSG00000140718 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55542208 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-29 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 breast carcinoma Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
<0.001 breast carcinoma Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.120 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.080 breast carcinoma Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.002 breast carcinoma Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.122 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
<0.001 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.240 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.400 obesity In European populations, common variants (rs1421085-C, rs17817449-G, and rs99396... BeFree 17928949 Detail
<0.001 obesity Haplotype analysis (combination of rs1421085 (T/C), rs17817449 (T/G), and rs8043... BeFree 25542809 Detail
0.791 obesity This study aimed to determine whether there is a relationship between common FTO... BeFree 23201545 Detail
0.400 obesity For the binary trait of obesity, we found 16 genome-wide significant signals wit... GWASCAT 21552555 Detail
0.400 obesity Association of FTO rs17817449 SNP with obesity and associated physiological para... BeFree 21919686 Detail
0.400 obesity [For the binary trait of obesity, we found 16 genome-wide significant signals wi... GAD 21552555 Detail
0.122 Malignant neoplasm of breast Large-scale genotyping identifies 41 new loci associated with breast cancer risk... GWASCAT 23535729 Detail
0.327 Diabetes Mellitus, Non-Insulin-Dependent While FTO rs8050136 and rs17817449, ADAMTS9 rs4607103, and WFS1 rs10010131 were ... BeFree 24145053 Detail
0.121 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.002 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.003 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
<0.001 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.031 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
<0.001 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.230 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.138 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.122 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
<0.001 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.009 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.132 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.122 Malignant neoplasm of breast SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), ... GWASCAT 23535733 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001080432.3(FTO):c.46-30685T>G AND not provided ClinVar Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
In European populations, common variants (rs1421085-C, rs17817449-G, and rs9939609-A) in the fat mas... DisGeNET Detail
Haplotype analysis (combination of rs1421085 (T/C), rs17817449 (T/G), and rs8043757 (A/T)) showed th... DisGeNET Detail
This study aimed to determine whether there is a relationship between common FTO (rs17817449) and MC... DisGeNET Detail
For the binary trait of obesity, we found 16 genome-wide significant signals within the FTO gene (st... DisGeNET Detail
Association of FTO rs17817449 SNP with obesity and associated physiological parameters in a north In... DisGeNET Detail
[For the binary trait of obesity, we found 16 genome-wide significant signals within the FTO gene (s... DisGeNET Detail
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. DisGeNET Detail
While FTO rs8050136 and rs17817449, ADAMTS9 rs4607103, and WFS1 rs10010131 were initially associated... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), 2p24.1 (P = 4.6 × 10... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17817449 dbSNP
Genome
hg38
Position
chr16:53,779,455-53,779,455
Variant Type
snv
Reference Allele
T
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))
rs17817449
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1959
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3283
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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