rs6487673

Homo sapiens
T>C
CCDC91 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0084 (2519/29936,GnomAD)
T==0133 (3873/29118,TOPMED)
T==0095 (478/5008,1000G)
T==0003 (13/3854,ALSPAC)
T==0006 (22/3708,TWINSUK)
chr12:28285474 (GRCh38.p7) (12p11.22)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.28285474T>C
GRCh37.p13 chr 12NC_000012.11:g.28438407T>C

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 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 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 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
CCDC91 transcript variant X14XM_005253415.1:c.N/AGenic Upstream Transcript Variant
CCDC91 transcript variant X1XM_006719103.3:c.N/AGenic Upstream Transcript Variant
CCDC91 transcript variant X8XM_011520731.2:c.N/AGenic Upstream Transcript Variant
CCDC91 transcript variant X18XM_011520733.2:c.N/AGenic Upstream Transcript Variant
CCDC91 transcript variant X12XM_017019573.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.336C=0.664
1000GenomesAmericanSub694T=0.040C=0.960
1000GenomesEast AsianSub1008T=0.000C=1.000
1000GenomesEuropeSub1006T=0.005C=0.995
1000GenomesGlobalStudy-wide5008T=0.095C=0.905
1000GenomesSouth AsianSub978T=0.000C=1.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.003C=0.997
The Genome Aggregation DatabaseAfricanSub8700T=0.279C=0.721
The Genome Aggregation DatabaseAmericanSub838T=0.030C=0.970
The Genome Aggregation DatabaseEast AsianSub1614T=0.000C=1.000
The Genome Aggregation DatabaseEuropeSub18482T=0.002C=0.997
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.084C=0.915
The Genome Aggregation DatabaseOtherSub302T=0.070C=0.930
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.133C=0.867
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.006C=0.994
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs64876732.54E-10alcohol consumptionpha001398

eQTL of rs6487673 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 rs6487673 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 )
chr122840119428401256E068-37151
chr122840126728401335E068-37072
chr122840142728401507E068-36900
chr122840153628401649E068-36758
chr122840172328402023E068-36384
chr122840249528402645E071-35762
chr122840268128402721E071-35686
chr122840274928402836E071-35571
chr122840292528403007E071-35400
chr122840090228400994E074-37413
chr122840119428401256E074-37151
chr122840126728401335E074-37072
chr122840142728401507E074-36900
chr122840153628401649E074-36758