rs681561

Homo sapiens
A>C
PCCA : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0454 (13441/29604,GnomAD)
A==0431 (12571/29118,TOPMED)
A==0355 (1777/5008,1000G)
C=0477 (1839/3854,ALSPAC)
A==0498 (1846/3708,TWINSUK)
chr13:100246275 (GRCh38.p7) (13q32.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.100246275A>C
GRCh37.p13 chr 13NC_000013.10:g.100898529A>C
PCCA RefSeqGeneNG_008768.1:g.162193A>C

Gene: PCCA, propionyl-CoA carboxylase alpha subunit(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PCCA transcript variant 1NM_000282.3:c.N/AIntron Variant
PCCA transcript variant 2NM_001127692.2:c.N/AIntron Variant
PCCA transcript variant 3NM_001178004.1:c.N/AIntron Variant
PCCA transcript variant X15XM_005254059.2:c.N/AIntron Variant
PCCA transcript variant X4XM_011521093.1:c.N/AIntron Variant
PCCA transcript variant X1XM_017020605.1:c.N/AIntron Variant
PCCA transcript variant X2XM_017020606.1:c.N/AIntron Variant
PCCA transcript variant X3XM_017020607.1:c.N/AIntron Variant
PCCA transcript variant X4XM_017020608.1:c.N/AIntron Variant
PCCA transcript variant X5XM_017020609.1:c.N/AIntron Variant
PCCA transcript variant X7XM_017020610.1:c.N/AIntron Variant
PCCA transcript variant X6XM_017020611.1:c.N/AIntron Variant
PCCA transcript variant X8XM_017020612.1:c.N/AIntron Variant
PCCA transcript variant X9XM_017020613.1:c.N/AIntron Variant
PCCA transcript variant X12XM_017020614.1:c.N/AIntron Variant
PCCA transcript variant X12XM_017020615.1:c.N/AIntron Variant
PCCA transcript variant X14XM_017020616.1:c.N/AIntron Variant
PCCA transcript variant X23XM_017020617.1:c.N/AIntron Variant
PCCA transcript variant X26XM_017020618.1:c.N/AIntron Variant
PCCA transcript variant X7XR_001749567.1:n.N/AIntron Variant
PCCA transcript variant X10XR_001749568.1:n.N/AIntron Variant
PCCA transcript variant X11XR_001749569.1:n.N/AIntron Variant
PCCA transcript variant X17XR_001749570.1:n.N/AIntron Variant
PCCA transcript variant X20XR_001749571.1:n.N/AIntron Variant
PCCA transcript variant X21XR_001749572.1:n.N/AIntron Variant
PCCA transcript variant X22XR_001749573.1:n.N/AIntron Variant
PCCA transcript variant X15XR_001749574.1:n.N/AIntron Variant
PCCA transcript variant X25XR_001749575.1:n.N/AIntron Variant
PCCA transcript variant X16XR_001749576.1:n.N/AIntron Variant
PCCA transcript variant X17XR_001749577.1:n.N/AIntron Variant
PCCA transcript variant X13XR_931615.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.351C=0.649
1000GenomesAmericanSub694A=0.410C=0.590
1000GenomesEast AsianSub1008A=0.232C=0.768
1000GenomesEuropeSub1006A=0.538C=0.462
1000GenomesGlobalStudy-wide5008A=0.355C=0.645
1000GenomesSouth AsianSub978A=0.260C=0.740
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.523C=0.477
The Genome Aggregation DatabaseAfricanSub8642A=0.369C=0.631
The Genome Aggregation DatabaseAmericanSub834A=0.410C=0.590
The Genome Aggregation DatabaseEast AsianSub1618A=0.231C=0.769
The Genome Aggregation DatabaseEuropeSub18210A=0.514C=0.485
The Genome Aggregation DatabaseGlobalStudy-wide29604A=0.454C=0.546
The Genome Aggregation DatabaseOtherSub300A=0.550C=0.450
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.431C=0.568
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.498C=0.502
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
rs6815610.000393alcohol dependence21314694

eQTL of rs681561 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 rs681561 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 )
chr13100849809100850677E067-47852
chr13100882213100882539E068-15990
chr13100882580100882794E068-15735
chr13100882808100882995E068-15534
chr13100883006100883066E068-15463
chr13100883085100883220E068-15309
chr13100886036100886086E068-12443
chr13100886214100886304E068-12225
chr13100886380100886512E068-12017
chr13100886583100886695E068-11834
chr13100882580100882794E069-15735
chr13100882808100882995E069-15534
chr13100883006100883066E069-15463
chr13100883085100883220E069-15309
chr13100886380100886512E069-12017
chr13100886583100886695E069-11834
chr13100886748100886867E069-11662
chr13100886940100887027E069-11502
chr13100887030100887341E069-11188
chr13100922193100922418E06923664
chr13100882213100882539E071-15990
chr13100882580100882794E071-15735
chr13100882808100882995E071-15534
chr13100883006100883066E071-15463
chr13100883085100883220E071-15309
chr13100883252100883435E071-15094
chr13100883463100883576E071-14953
chr13100883580100883654E071-14875
chr13100886380100886512E071-12017
chr13100886583100886695E071-11834
chr13100886748100886867E071-11662
chr13100886940100887027E071-11502
chr13100887030100887341E071-11188
chr13100887464100888201E071-10328
chr13100922193100922418E07123664
chr13100882808100882995E073-15534
chr13100883006100883066E073-15463
chr13100883085100883220E073-15309
chr13100886214100886304E073-12225
chr13100886380100886512E073-12017
chr13100886583100886695E073-11834
chr13100886748100886867E073-11662
chr13100886940100887027E073-11502
chr13100887030100887341E073-11188
chr13100887464100888201E073-10328
chr13100922193100922418E07423664