rs10506030

Homo sapiens
A>T
CCDC91 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0025 (773/29914,GnomAD)
T=0026 (773/29118,TOPMED)
T=0041 (207/5008,1000G)
T=0040 (156/3854,ALSPAC)
T=0036 (135/3708,TWINSUK)
chr12:28362948 (GRCh38.p7) (12p11.22)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.28362948A>T
GRCh37.p13 chr 12NC_000012.11:g.28515881A>T

Gene: CCDC91, coiled-coil domain containing 91(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CCDC91 transcriptNM_018318.3:c.N/AIntron Variant
CCDC91 transcript variant X2XM_005253413.1:c.N/AIntron Variant
CCDC91 transcript variant X2XM_005253414.1:c.N/AIntron Variant
CCDC91 transcript variant X14XM_005253415.1:c.N/AIntron Variant
CCDC91 transcript variant X1XM_006719103.3:c.N/AIntron Variant
CCDC91 transcript variant X3XM_006719104.2:c.N/AIntron Variant
CCDC91 transcript variant X7XM_006719105.1:c.N/AIntron Variant
CCDC91 transcript variant X5XM_011520729.2:c.N/AIntron Variant
CCDC91 transcript variant X8XM_011520731.2:c.N/AIntron Variant
CCDC91 transcript variant X18XM_011520733.2:c.N/AIntron Variant
CCDC91 transcript variant X19XM_011520734.1:c.N/AIntron Variant
CCDC91 transcript variant X15XM_011520735.1:c.N/AIntron Variant
CCDC91 transcript variant X5XM_017019569.1:c.N/AIntron Variant
CCDC91 transcript variant X9XM_017019570.1:c.N/AIntron Variant
CCDC91 transcript variant X10XM_017019571.1:c.N/AIntron Variant
CCDC91 transcript variant X10XM_017019572.1:c.N/AIntron Variant
CCDC91 transcript variant X12XM_017019573.1:c.N/AIntron Variant
CCDC91 transcript variant X13XM_017019574.1:c.N/AIntron Variant
CCDC91 transcript variant X15XM_017019575.1:c.N/AIntron Variant
CCDC91 transcript variant X16XM_017019576.1:c.N/AIntron Variant
CCDC91 transcript variant X17XM_017019577.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.998T=0.002
1000GenomesAmericanSub694A=0.970T=0.030
1000GenomesEast AsianSub1008A=0.984T=0.016
1000GenomesEuropeSub1006A=0.960T=0.040
1000GenomesGlobalStudy-wide5008A=0.959T=0.041
1000GenomesSouth AsianSub978A=0.870T=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.960T=0.040
The Genome Aggregation DatabaseAfricanSub8704A=0.993T=0.007
The Genome Aggregation DatabaseAmericanSub838A=0.960T=0.040
The Genome Aggregation DatabaseEast AsianSub1618A=0.989T=0.011
The Genome Aggregation DatabaseEuropeSub18454A=0.965T=0.034
The Genome Aggregation DatabaseGlobalStudy-wide29914A=0.974T=0.025
The Genome Aggregation DatabaseOtherSub300A=0.930T=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.973T=0.026
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.964T=0.036
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
rs105060300.000542alcohol dependence21314694

eQTL of rs10506030 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 rs10506030 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 )
chr122851331228513457E074-2424