rs12249562

Homo sapiens
G>A
CUBN : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0174 (5232/29946,GnomAD)
A=0159 (4633/29118,TOPMED)
A=0124 (623/5008,1000G)
A=0202 (780/3854,ALSPAC)
A=0200 (743/3708,TWINSUK)
chr10:16973406 (GRCh38.p7) (10p13)
AD
GWASdb2
1   publication(s)
See rs on genome
93 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.16973406G>A
GRCh37.p13 chr 10NC_000010.10:g.17015405G>A
CUBN RefSeqGene LRG_540

Gene: CUBN, cubilin(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CUBN transcriptNM_001081.3:c.N/AIntron Variant
CUBN transcript variant X1XM_011519708.2:c.N/AIntron Variant
CUBN transcript variant X2XM_011519709.2:c.N/AIntron Variant
CUBN transcript variant X3XM_011519710.2:c.N/AIntron Variant
CUBN transcript variant X4XM_011519711.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.893A=0.107
1000GenomesAmericanSub694G=0.870A=0.130
1000GenomesEast AsianSub1008G=0.998A=0.002
1000GenomesEuropeSub1006G=0.800A=0.200
1000GenomesGlobalStudy-wide5008G=0.876A=0.124
1000GenomesSouth AsianSub978G=0.810A=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.798A=0.202
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.840A=0.159
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.800A=0.200
PMID Title Author Journal
23422394Genetic analysis of a population heavy drinking phenotype identifies risk variants in whites.Hamidovic AJ Clin Psychopharmacol

P-Value

SNP ID p-value Traits Study
rs122495623.03E-05alcohol consumption (Heavy)23422394

eQTL of rs12249562 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 rs12249562 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 )
chr101702771317027802E06712308
chr101702785317030348E06712448
chr101703035517030508E06714950
chr101703052717030699E06715122
chr101699257916993693E068-21712
chr101699373516993904E068-21501
chr101699395316995569E068-19836
chr101699627516996949E068-18456
chr101699695016997071E068-18334
chr101700783917008457E068-6948
chr101700848617008605E068-6800
chr101700873317009846E068-5559
chr101700987917009943E068-5462
chr101700997017011217E068-4188
chr101702771317027802E06812308
chr101702785317030348E06812448
chr101703035517030508E06814950
chr101703052717030699E06815122
chr101703075117030861E06815346
chr101703089817030948E06815493
chr101703786317039008E06822458
chr101704799117052282E06832586
chr101699257916993693E069-21712
chr101699373516993904E069-21501
chr101700997017011217E069-4188
chr101702771317027802E06912308
chr101702785317030348E06912448
chr101703035517030508E06914950
chr101699185116992222E070-23183
chr101699228416992379E070-23026
chr101699257916993693E070-21712
chr101699373516993904E070-21501
chr101699395316995569E070-19836
chr101700987917009943E070-5462
chr101700997017011217E070-4188
chr101702771317027802E07012308
chr101702785317030348E07012448
chr101698562016986083E071-29322
chr101698610616986197E071-29208
chr101699257916993693E071-21712
chr101699373516993904E071-21501
chr101699395316995569E071-19836
chr101702771317027802E07112308
chr101702785317030348E07112448
chr101703035517030508E07114950
chr101703052717030699E07115122
chr101703075117030861E07115346
chr101703089817030948E07115493
chr101703108917031139E07115684
chr101703116817031231E07115763
chr101698513416985220E072-30185
chr101698545116985517E072-29888
chr101698562016986083E072-29322
chr101698610616986197E072-29208
chr101699257916993693E072-21712
chr101699373516993904E072-21501
chr101700997017011217E072-4188
chr101702771317027802E07212308
chr101702785317030348E07212448
chr101703035517030508E07214950
chr101703052717030699E07215122
chr101703786317039008E07222458
chr101700783917008457E073-6948
chr101700997017011217E073-4188
chr101702610117026182E07310696
chr101702785317030348E07312448
chr101699373516993904E074-21501
chr101699604516996114E074-19291
chr101699620916996259E074-19146
chr101700987917009943E074-5462
chr101700997017011217E074-4188
chr101702771317027802E07412308
chr101702785317030348E07412448
chr101703035517030508E07414950
chr101699117516991258E081-24147
chr101699128416991353E081-24052
chr101699142316991551E081-23854
chr101699161016991791E081-23614
chr101699185116992222E081-23183
chr101699228416992379E081-23026
chr101699257916993693E081-21712
chr101699373516993904E081-21501
chr101699395316995569E081-19836
chr101699627516996949E081-18456
chr101699695016997071E081-18334
chr101706369117064023E08148286
chr101706407717064382E08148672
chr101699161016991791E082-23614
chr101699373516993904E082-21501
chr101700665717006946E082-8459
chr101700695517007525E082-7880
chr101700987917009943E082-5462
chr101700997017011217E082-4188