rs930076

Homo sapiens
T>C
SNHG18 : 500B Downstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0278 (8331/29908,GnomAD)
C=0261 (7615/29118,TOPMED)
C=0245 (1226/5008,1000G)
C=0292 (1126/3854,ALSPAC)
C=0281 (1043/3708,TWINSUK)
chr5:9550530 (GRCh38.p7) (5p15.31)
AD
GWASdb2
1   publication(s)
See rs on genome
40 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.9550530T>C
GRCh37.p13 chr 5NC_000005.9:g.9550642T>C
SEMA5A RefSeqGeneNG_016410.1:g.592A>G

Gene: SNHG18, small nucleolar RNA host gene 18(plus strand): 500B Downstream Variant

Molecule type Change Amino acid[Codon] SO Term
SNHG18 transcriptNR_045196.2:n.N/ADownstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.756C=0.244
1000GenomesAmericanSub694T=0.860C=0.140
1000GenomesEast AsianSub1008T=0.822C=0.178
1000GenomesEuropeSub1006T=0.712C=0.288
1000GenomesGlobalStudy-wide5008T=0.755C=0.245
1000GenomesSouth AsianSub978T=0.660C=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.708C=0.292
The Genome Aggregation DatabaseAfricanSub8708T=0.752C=0.248
The Genome Aggregation DatabaseAmericanSub838T=0.810C=0.190
The Genome Aggregation DatabaseEast AsianSub1600T=0.789C=0.211
The Genome Aggregation DatabaseEuropeSub18460T=0.697C=0.303
The Genome Aggregation DatabaseGlobalStudy-wide29908T=0.721C=0.278
The Genome Aggregation DatabaseOtherSub302T=0.740C=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.738C=0.261
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.719C=0.281
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
rs9300761.67E-05alcohol dependence21703634

eQTL of rs930076 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 rs930076 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 )
chr595346969534746E067-15896
chr595349879535195E067-15447
chr595352829535533E067-15109
chr595357169535902E067-14740
chr595359559536239E067-14403
chr595429069542994E067-7648
chr595196949520135E068-30507
chr595349879535195E068-15447
chr595352829535533E068-15109
chr595357169535902E068-14740
chr595359559536239E068-14403
chr595429069542994E068-7648
chr595429069542994E069-7648
chr595967929597227E07046150
chr595196949520135E071-30507
chr595332469533524E071-17118
chr595346969534746E071-15896
chr595349879535195E071-15447
chr595352829535533E071-15109
chr595357169535902E071-14740
chr595359559536239E071-14403
chr595429069542994E071-7648
chr595357169535902E073-14740
chr595359559536239E073-14403
chr595379509538191E074-12451
chr595429069542994E074-7648
chr595124679512637E081-38005
chr595136669513810E081-36832
chr595139829514257E081-36385
chr595300619530112E081-20530
chr595302769530379E081-20263
chr595346969534746E081-15896
chr595349879535195E081-15447
chr595352829535533E081-15109
chr595357169535902E081-14740
chr595124679512637E082-38005
chr595300619530112E082-20530
chr595302769530379E082-20263
chr595349879535195E082-15447
chr595352829535533E082-15109









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr595407349540808E067-9834
chr595409379541232E067-9410
chr595431019543295E067-7347
chr595434159548252E067-2390
chr595407349540808E068-9834
chr595409379541232E068-9410
chr595431019543295E068-7347
chr595434159548252E068-2390
chr595407349540808E069-9834
chr595409379541232E069-9410
chr595431019543295E069-7347
chr595434159548252E069-2390
chr595431019543295E070-7347
chr595434159548252E070-2390
chr595407349540808E071-9834
chr595409379541232E071-9410
chr595431019543295E071-7347
chr595434159548252E071-2390
chr595407349540808E072-9834
chr595409379541232E072-9410
chr595431019543295E072-7347
chr595434159548252E072-2390
chr595434159548252E073-2390
chr595407349540808E074-9834
chr595409379541232E074-9410
chr595434159548252E074-2390