chr12:102470647:C>A Detail (hg38) (IGF1)

Information

Genome

Assembly Position
hg19 chr12:102,864,425-102,864,425 View the variant detail on this assembly version.
hg38 chr12:102,470,647-102,470,647

HGVS

Type Transcript Protein
RefSeq NM_001111285.2:c.220+4996G>T
NM_000618.4:c.220+4996G>T
NM_001111284.1:c.172+4996G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 147440 OMIM
HGNC 5464 HGNC
Ensembl ENSG00000017427 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47031438 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
0.001 Malignant neoplasm of ovary When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and... BeFree 19858071 Detail
0.012 obesity [A large-scale candidate gene association study of age at menarche and age at na... GAD 20734064 Detail
0.002 Ovarian Failure, Premature [A large-scale candidate gene association study of age at menarche and age at na... GAD 20734064 Detail
0.002 thrombophilia [A large-scale candidate gene association study of age at menarche and age at na... GAD 20734064 Detail
0.001 ovarian carcinoma When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and... BeFree 19858071 Detail
0.122 Precocious Puberty [A large-scale candidate gene association study of age at menarche and age at na... GAD 20734064 Detail
0.011 polycystic ovary syndrome [A large-scale candidate gene association study of age at menarche and age at na... GAD 20734064 Detail
0.002 Delayed puberty [A large-scale candidate gene association study of age at menarche and age at na... GAD 20734064 Detail
0.005 Tobacco use disorder [A large-scale candidate gene association study of age at menarche and age at na... GAD 20734064 Detail
Annotation

Annotations

DescrptionSourceLinks
When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were ass... DisGeNET Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.] DisGeNET Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.] DisGeNET Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.] DisGeNET Detail
When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were ass... DisGeNET Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.] DisGeNET Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.] DisGeNET Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.] DisGeNET Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.] DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1019731 dbSNP
Genome
hg38
Position
chr12:102,470,647-102,470,647
Variant Type
snv
Reference Allele
C
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))
rs1019731
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0003
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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