rs912784

Homo sapiens
C>A
LRRC63 : 2KB Upstream Variant
LOC107984578 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0103 (3087/29970,GnomAD)
A=0143 (4186/29116,TOPMED)
A=0135 (678/5008,1000G)
A=0037 (143/3854,ALSPAC)
A=0036 (133/3708,TWINSUK)
chr13:46211386 (GRCh38.p7) (13q14.13)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.46211386C>A
GRCh37.p13 chr 13NC_000013.10:g.46785521C>A

Gene: LRRC63, leucine rich repeat containing 63(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LRRC63 transcriptNM_001282460.1:c.N/AUpstream Transcript Variant
LRRC63 transcript variant X18XM_011534989.2:c.N/AUpstream Transcript Variant
LRRC63 transcript variant X19XM_011534990.2:c.N/AUpstream Transcript Variant
LRRC63 transcript variant X20XM_011534992.2:c.N/AUpstream Transcript Variant
LRRC63 transcript variant X25XM_011534993.1:c.N/AUpstream Transcript Variant
LRRC63 transcript variant X1XM_017020421.1:c.N/AUpstream Transcript Variant
LRRC63 transcript variant X2XM_017020422.1:c.N/AUpstream Transcript Variant
LRRC63 transcript variant X7XM_017020424.1:c.N/AUpstream Transcript Variant
LRRC63 transcript variant X11XM_017020425.1:c.N/AUpstream Transcript Variant
LRRC63 transcript variant X13XM_017020426.1:c.N/AUpstream Transcript Variant
LRRC63 transcript variant X16XM_017020427.1:c.N/AUpstream Transcript Variant
LRRC63 transcript variant X21XM_017020428.1:c.N/AUpstream Transcript Variant
LRRC63 transcript variant X22XM_017020429.1:c.N/AUpstream Transcript Variant
LRRC63 transcript variant X23XM_017020430.1:c.N/AUpstream Transcript Variant
LRRC63 transcript variant X24XM_017020431.1:c.N/AUpstream Transcript Variant
LRRC63 transcript variant X3XM_017020423.1:c.N/AN/A
LRRC63 transcript variant X4XR_001749492.1:n.N/AUpstream Transcript Variant
LRRC63 transcript variant X8XR_001749493.1:n.N/AUpstream Transcript Variant
LRRC63 transcript variant X12XR_001749494.1:n.N/AUpstream Transcript Variant
LRRC63 transcript variant X14XR_001749496.1:n.N/AUpstream Transcript Variant
LRRC63 transcript variant X15XR_001749497.1:n.N/AUpstream Transcript Variant
LRRC63 transcript variant X17XR_001749498.1:n.N/AUpstream Transcript Variant
LRRC63 transcript variant X5XR_941517.2:n.N/AUpstream Transcript Variant
LRRC63 transcript variant X6XR_941518.2:n.N/AUpstream Transcript Variant
LRRC63 transcript variant X9XR_941519.2:n.N/AUpstream Transcript Variant
LRRC63 transcript variant X10XR_941520.2:n.N/AUpstream Transcript Variant

Gene: LOC107984578, uncharacterized LOC107984578(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107984578 transcript variant X1XR_001749863.1:n....XR_001749863.1:n.316G>TG>TNon Coding Transcript Variant
LOC107984578 transcript variant X2XR_001749864.1:n....XR_001749864.1:n.316G>TG>TNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.727A=0.273
1000GenomesAmericanSub694C=0.920A=0.080
1000GenomesEast AsianSub1008C=0.891A=0.109
1000GenomesEuropeSub1006C=0.959A=0.041
1000GenomesGlobalStudy-wide5008C=0.865A=0.135
1000GenomesSouth AsianSub978C=0.890A=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.963A=0.037
The Genome Aggregation DatabaseAfricanSub8708C=0.745A=0.255
The Genome Aggregation DatabaseAmericanSub838C=0.890A=0.110
The Genome Aggregation DatabaseEast AsianSub1618C=0.892A=0.108
The Genome Aggregation DatabaseEuropeSub18504C=0.968A=0.031
The Genome Aggregation DatabaseGlobalStudy-wide29970C=0.897A=0.103
The Genome Aggregation DatabaseOtherSub302C=0.930A=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.856A=0.143
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.964A=0.036
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs9127840.000316alcohol dependence20201924

eQTL of rs912784 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 rs912784 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 )
chr134678736046787427E0671839
chr134678749446787803E0671973
chr134676365546763727E070-21794
chr134676411746764227E070-21294
chr134676447346764523E070-20998
chr134676458546764635E070-20886
chr134676476446764804E070-20717
chr134678198146782242E071-3279
chr134678244946782489E071-3032
chr134678249846782561E071-2960
chr134678162146781805E074-3716
chr134678187746781972E074-3549
chr134678198146782242E074-3279
chr134678244946782489E074-3032
chr134678249846782561E074-2960
chr134678261346782716E074-2805




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr134678518246786567E0670
chr134675187246752314E068-33207
chr134678518246786567E0680
chr134678518246786567E0690
chr134678518246786567E0700
chr134675426246755796E071-29725
chr134678518246786567E0710
chr134678518246786567E0720
chr134678518246786567E0730
chr134678518246786567E0740
chr134678518246786567E0810
chr134678518246786567E0820