rs11134474

Homo sapiens
A>G
SGCD : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0044 (1315/29912,GnomAD)
G=0059 (1726/29118,TOPMED)
G=0061 (307/5008,1000G)
G=0010 (40/3854,ALSPAC)
G=0009 (34/3708,TWINSUK)
chr5:155775518 (GRCh38.p7) (5q33.2)
ND
GWASCatalog
1   publication(s)
See rs on genome
0 Enhancer around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.155775518A>G
GRCh37.p13 chr 5NC_000005.9:g.155202528A>G

Gene: SGCD, sarcoglycan delta(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SGCD transcript variant 1NM_000337.5:c.N/AGenic Upstream Transcript Variant
SGCD transcript variant 3NM_001128209.1:c.N/AGenic Upstream Transcript Variant
SGCD transcript variant 2NM_172244.2:c.N/AGenic Upstream Transcript Variant
SGCD transcript variant X2XM_017009724.1:c.N/AIntron Variant
SGCD transcript variant X3XM_005265966.4:c.N/AGenic Upstream Transcript Variant
SGCD transcript variant X5XM_005265967.2:c.N/AGenic Upstream Transcript Variant
SGCD transcript variant X4XM_011534621.2:c.N/AGenic Upstream Transcript Variant
SGCD transcript variant X1XM_017009723.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.884G=0.116
1000GenomesAmericanSub694A=0.970G=0.030
1000GenomesEast AsianSub1008A=0.932G=0.068
1000GenomesEuropeSub1006A=0.984G=0.016
1000GenomesGlobalStudy-wide5008A=0.939G=0.061
1000GenomesSouth AsianSub978A=0.950G=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.990G=0.010
The Genome Aggregation DatabaseAfricanSub8700A=0.882G=0.118
The Genome Aggregation DatabaseAmericanSub836A=0.970G=0.030
The Genome Aggregation DatabaseEast AsianSub1584A=0.956G=0.044
The Genome Aggregation DatabaseEuropeSub18490A=0.990G=0.009
The Genome Aggregation DatabaseGlobalStudy-wide29912A=0.956G=0.044
The Genome Aggregation DatabaseOtherSub302A=0.940G=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.940G=0.059
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.991G=0.009
PMID Title Author Journal
22006218Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence.Yoon DHum Genet

P-Value

SNP ID p-value Traits Study
rs111344748E-06Smoking behavior22006218

eQTL of rs11134474 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 rs11134474 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.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5155188741155188804E067-13724