rs10778176

Homo sapiens
C>A / C>T
IGF1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0332 (9951/29930,GnomAD)
T=0328 (9555/29118,TOPMED)
T=0342 (1713/5008,1000G)
T=0271 (1045/3854,ALSPAC)
T=0269 (998/3708,TWINSUK)
chr12:102469201 (GRCh38.p7) (12q23.2)
AD
GWASdb2
3   publication(s)
See rs on genome
33 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.102469201C>A
GRCh38.p7 chr 12NC_000012.12:g.102469201C>T
GRCh37.p13 chr 12NC_000012.11:g.102862979C>A
GRCh37.p13 chr 12NC_000012.11:g.102862979C>T
IGF1 RefSeqGeneNG_011713.1:g.16400G>T
IGF1 RefSeqGeneNG_011713.1:g.16400G>A

Gene: IGF1, insulin like growth factor 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
IGF1 transcript variant 4NM_000618.4:c.N/AIntron Variant
IGF1 transcript variant 1NM_001111283.2:c.N/AIntron Variant
IGF1 transcript variant 2NM_001111284.1:c.N/AIntron Variant
IGF1 transcript variant X1XM_017019259.1:c.N/AIntron Variant
IGF1 transcript variant X2XM_017019260.1:c.N/AIntron Variant
IGF1 transcript variant X2XM_017019261.1:c.N/AIntron Variant
IGF1 transcript variant X4XM_017019262.1:c.N/AIntron Variant
IGF1 transcript variant X5XM_017019263.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.571T=0.429
1000GenomesAmericanSub694C=0.770T=0.230
1000GenomesEast AsianSub1008C=0.572T=0.428
1000GenomesEuropeSub1006C=0.731T=0.269
1000GenomesGlobalStudy-wide5008C=0.658T=0.342
1000GenomesSouth AsianSub978C=0.710T=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.729T=0.271
The Genome Aggregation DatabaseAfricanSub8704C=0.596T=0.404
The Genome Aggregation DatabaseAmericanSub838C=0.760T=0.240
The Genome Aggregation DatabaseEast AsianSub1618C=0.549T=0.451
The Genome Aggregation DatabaseEuropeSub18468C=0.705T=0.294
The Genome Aggregation DatabaseGlobalStudy-wide29930C=0.667T=0.332
The Genome Aggregation DatabaseOtherSub302C=0.760T=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.671T=0.328
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.731T=0.269
PMID Title Author Journal
24149131Candidate gene analysis in israeli soldiers with stress fractures.Yanovich RJ Sports Sci Med
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res
21915365Prospective study of insulin-like growth factor-I, insulin-like growth factor-binding protein 3, genetic variants in the IGF1 and IGFBP3 genes and risk of coronary artery disease.Ricketts SLInt J Mol Epidemiol Genet

P-Value

SNP ID p-value Traits Study
rs107781768.6E-05alcohol consumption23953852

eQTL of rs10778176 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs10778176 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr124461735844617826E07013973
chr124461791044617981E07014525
chr124461816044618245E07014775
chr124461828444618619E07014899
chr124461863344619704E07015248
chr124461976344619834E07016378
chr124461993044620108E07016545
chr124464047144640990E07037086
chr124464103444641128E07037649
chr124455360444553750E081-49635
chr124455378244553988E081-49397
chr124461735844617826E08113973
chr124461791044617981E08114525
chr124461816044618245E08114775
chr124461828444618619E08114899
chr124461863344619704E08115248
chr124461976344619834E08116378
chr124461993044620108E08116545
chr124464047144640990E08137086
chr124464103444641128E08137649
chr124455360444553750E082-49635
chr124455378244553988E082-49397
chr124458024444580328E082-23057
chr124458060944580659E082-22726
chr124458070444580754E082-22631
chr124461791044617981E08214525
chr124461816044618245E08214775
chr124461828444618619E08214899
chr124461863344619704E08215248
chr124461976344619834E08216378
chr124461993044620108E08216545
chr124462046444620535E08217079
chr124462057544620677E08217190