rs3752862

Homo sapiens
G>A
CCNH : Intron Variant
RASA1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0396 (11809/29772,GnomAD)
G==0321 (9373/29118,TOPMED)
G==0368 (1845/5008,1000G)
A=0476 (1836/3854,ALSPAC)
A=0474 (1759/3708,TWINSUK)
chr5:87338156 (GRCh38.p7) (5q14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.87338156G>A
GRCh37.p13 chr 5NC_000005.9:g.86633973G>A
RASA1 RefSeqGeneNG_011650.1:g.74823G>A

Gene: RASA1, RAS p21 protein activator 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RASA1 transcript variant 1NM_002890.2:c.N/AIntron Variant
RASA1 transcript variant 2NM_022650.2:c.N/AIntron Variant
RASA1 transcript variant X1XM_011543525.1:c.N/AIntron Variant
RASA1 transcript variant X2XM_011543527.2:c.N/AIntron Variant

Gene: CCNH, cyclin H(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CCNH transcript variant 2NM_001199189.1:c.N/AGenic Downstream Transcript Variant
CCNH transcript variant 1NM_001239.3:c.N/AGenic Downstream Transcript Variant
CCNH transcript variant X1XM_005248627.3:c.N/AGenic Downstream Transcript Variant
CCNH transcript variant X4XM_005248629.4:c.N/AGenic Downstream Transcript Variant
CCNH transcript variant X2XM_011543706.2:c.N/AGenic Downstream Transcript Variant
CCNH transcript variant X5XM_017010014.1:c.N/AGenic Downstream Transcript Variant
CCNH transcript variant X3XR_001742324.1:n.N/AIntron Variant
CCNH transcript variant X6XR_001742326.1:n.N/AIntron Variant
CCNH transcript variant X7XR_001742327.1:n.N/AGenic Downstream Transcript Variant
CCNH transcript variant X8XR_001742328.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.056A=0.944
1000GenomesAmericanSub694G=0.480A=0.520
1000GenomesEast AsianSub1008G=0.410A=0.590
1000GenomesEuropeSub1006G=0.521A=0.479
1000GenomesGlobalStudy-wide5008G=0.368A=0.632
1000GenomesSouth AsianSub978G=0.510A=0.490
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.524A=0.476
The Genome Aggregation DatabaseAfricanSub8694G=0.127A=0.873
The Genome Aggregation DatabaseAmericanSub826G=0.500A=0.500
The Genome Aggregation DatabaseEast AsianSub1598G=0.325A=0.675
The Genome Aggregation DatabaseEuropeSub18356G=0.524A=0.476
The Genome Aggregation DatabaseGlobalStudy-wide29772G=0.396A=0.603
The Genome Aggregation DatabaseOtherSub298G=0.510A=0.490
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.321A=0.678
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.526A=0.474
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs37528620.000851alcohol dependence21314694

eQTL of rs3752862 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 rs3752862 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 )
chr58659328786593382E067-40591
chr58659461786594817E067-39156
chr58659488486594950E067-39023
chr58659499086595067E067-38906
chr58660730286607784E067-26189
chr58661711786617171E067-16802
chr58661731886617414E067-16559
chr58661787186617940E067-16033
chr58662651486626554E067-7419
chr58667602686676076E06742053
chr58667652986676627E06742556
chr58659328786593382E068-40591
chr58659360786593848E068-40125
chr58659461786594817E068-39156
chr58659488486594950E068-39023
chr58659499086595067E068-38906
chr58660730286607784E068-26189
chr58661650186616585E068-17388
chr58661711786617171E068-16802
chr58661731886617414E068-16559
chr58667283686672889E06838863
chr58667652986676627E06842556
chr58659360786593848E069-40125
chr58659412486594315E069-39658
chr58659461786594817E069-39156
chr58659488486594950E069-39023
chr58659499086595067E069-38906
chr58661711786617171E069-16802
chr58661731886617414E069-16559
chr58667602686676076E06942053
chr58667652986676627E06942556
chr58667209986672283E07038126
chr58659328786593382E071-40591
chr58659461786594817E071-39156
chr58659488486594950E071-39023
chr58659499086595067E071-38906
chr58660730286607784E071-26189
chr58661711786617171E071-16802
chr58661731886617414E071-16559
chr58662651486626554E071-7419
chr58662715386627302E071-6671
chr58667602686676076E07142053
chr58667652986676627E07142556
chr58659328786593382E072-40591
chr58659661486597043E072-36930
chr58660730286607784E072-26189
chr58661711786617171E072-16802
chr58661731886617414E072-16559
chr58661787186617940E072-16033
chr58662500286625104E072-8869
chr58662512186625223E072-8750
chr58667209986672283E07238126
chr58667283686672889E07238863
chr58667307586673115E07239102
chr58667602686676076E07242053
chr58667652986676627E07242556
chr58667209986672283E07338126
chr58659328786593382E074-40591
chr58659461786594817E074-39156
chr58659488486594950E074-39023
chr58659499086595067E074-38906
chr58660730286607784E074-26189
chr58661711786617171E074-16802
chr58667209986672283E07438126
chr58667283686672889E07438863
chr58667307586673115E07439102
chr58667602686676076E07442053
chr58667652986676627E07442556
chr58660539286605487E082-28486
chr58661711786617171E082-16802
chr58661731886617414E082-16559