rs1004815

Homo sapiens
T>C / T>G
NRDC : Intron Variant
LOC105378721 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0071 (2133/29968,GnomAD)
C=0069 (346/5008,1000G)
chr1:51793053 (GRCh38.p7) (1p32.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.51793053T>C
GRCh38.p7 chr 1NC_000001.11:g.51793053T>G
GRCh37.p13 chr 1NC_000001.10:g.52258725T>C
GRCh37.p13 chr 1NC_000001.10:g.52258725T>G
NRDC RefSeqGeneNG_029171.1:g.90885A>G
NRDC RefSeqGeneNG_029171.1:g.90885A>C

Gene: NRDC, nardilysin convertase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
NRDC transcript variant 2NM_001101662.1:c.N/AIntron Variant
NRDC transcript variant 3NM_001242361.1:c.N/AIntron Variant
NRDC transcript variant 1NM_002525.2:c.N/AIntron Variant
NRDC transcript variant X4XM_005270903.1:c.N/AIntron Variant
NRDC transcript variant X1XM_011541522.1:c.N/AIntron Variant
NRDC transcript variant X3XM_011541523.1:c.N/AIntron Variant
NRDC transcript variant X6XM_011541525.2:c.N/AIntron Variant
NRDC transcript variant X4XM_017001375.1:c.N/AIntron Variant

Gene: LOC105378721, uncharacterized LOC105378721(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC105378721 transcriptXR_947342.2:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.914G=0.000
1000GenomesAmericanSub694T=0.900G=0.01,
1000GenomesEast AsianSub1008T=0.988G=0.003
1000GenomesEuropeSub1006T=0.874G=0.021
1000GenomesGlobalStudy-wide5008T=0.921G=0.010
1000GenomesSouth AsianSub978T=0.920G=0.02,
The Genome Aggregation DatabaseAfricanSub8724T=0.913C=0.082
The Genome Aggregation DatabaseAmericanSub838T=0.920C=0.07,
The Genome Aggregation DatabaseEast AsianSub1616T=0.992C=0.008
The Genome Aggregation DatabaseEuropeSub18488T=0.907C=0.070
The Genome Aggregation DatabaseGlobalStudy-wide29968T=0.913C=0.071
The Genome Aggregation DatabaseOtherSub302T=0.850C=0.13,
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs10048153E-05alcohol dependence21703634

eQTL of rs1004815 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 rs1004815 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 )
chr143670344367088E069-11783
chr144051934405289E07026322
chr144059794406023E07027108
chr143676024367657E071-11214
chr143296564329758E081-49113
chr143306134330782E081-48089
chr143307944331107E081-47764
chr143313794331448E081-47423
chr143782344378397E081-474
chr143794804379551E081609
chr143796074379900E081736
chr143818214382075E0812950
chr143296564329758E082-49113
chr143638454363914E082-14957
chr143794804379551E082609
chr143796074379900E082736
chr143818214382075E0822950
chr144274294427629E08248558