rs7597928

Homo sapiens
A>G
SPAG16 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0127 (3822/29924,GnomAD)
A==0192 (5617/29118,TOPMED)
A==0139 (698/5008,1000G)
A==0012 (45/3854,ALSPAC)
A==0013 (50/3708,TWINSUK)
chr2:213727658 (GRCh38.p7) (2q34)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.213727658A>G
GRCh37.p13 chr 2NC_000002.11:g.214592382A>G

Gene: SPAG16, sperm associated antigen 16(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SPAG16 transcript variant 1NM_024532.4:c.N/AIntron Variant
SPAG16 transcript variant 2NM_001025436.2:c.N/AGenic Downstream Transcript Variant
SPAG16 transcript variant 3NR_047659.1:n.N/AIntron Variant
SPAG16 transcript variant 4NR_047660.1:n.N/AIntron Variant
SPAG16 transcript variant X1XM_011511814.1:c.N/AIntron Variant
SPAG16 transcript variant X2XM_011511815.1:c.N/AIntron Variant
SPAG16 transcript variant X3XM_011511816.2:c.N/AIntron Variant
SPAG16 transcript variant X4XM_011511817.1:c.N/AIntron Variant
SPAG16 transcript variant X5XM_011511818.1:c.N/AIntron Variant
SPAG16 transcript variant X6XM_011511819.2:c.N/AIntron Variant
SPAG16 transcript variant X7XM_011511820.1:c.N/AIntron Variant
SPAG16 transcript variant X8XM_011511821.2:c.N/AIntron Variant
SPAG16 transcript variant X10XM_011511822.1:c.N/AIntron Variant
SPAG16 transcript variant X9XM_011511823.2:c.N/AIntron Variant
SPAG16 transcript variant X11XM_011511824.1:c.N/AIntron Variant
SPAG16 transcript variant X18XM_011511831.1:c.N/AIntron Variant
SPAG16 transcript variant X24XM_011511835.2:c.N/AIntron Variant
SPAG16 transcript variant X12XM_017004896.1:c.N/AIntron Variant
SPAG16 transcript variant X13XM_017004897.1:c.N/AIntron Variant
SPAG16 transcript variant X14XM_017004898.1:c.N/AIntron Variant
SPAG16 transcript variant X22XM_017004900.1:c.N/AIntron Variant
SPAG16 transcript variant X23XM_017004901.1:c.N/AIntron Variant
SPAG16 transcript variant X25XM_017004902.1:c.N/AIntron Variant
SPAG16 transcript variant X21XM_006712746.2:c.N/AGenic Downstream Transcript Variant
SPAG16 transcript variant X15XM_011511827.1:c.N/AGenic Downstream Transcript Variant
SPAG16 transcript variant X16XM_011511828.1:c.N/AGenic Downstream Transcript Variant
SPAG16 transcript variant X17XM_011511829.1:c.N/AGenic Downstream Transcript Variant
SPAG16 transcript variant X19XM_011511832.1:c.N/AGenic Downstream Transcript Variant
SPAG16 transcript variant X26XM_011511837.2:c.N/AGenic Downstream Transcript Variant
SPAG16 transcript variant X20XM_017004899.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.440G=0.560
1000GenomesAmericanSub694A=0.050G=0.950
1000GenomesEast AsianSub1008A=0.003G=0.997
1000GenomesEuropeSub1006A=0.020G=0.980
1000GenomesGlobalStudy-wide5008A=0.139G=0.861
1000GenomesSouth AsianSub978A=0.060G=0.940
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.012G=0.988
The Genome Aggregation DatabaseAfricanSub8678A=0.400G=0.600
The Genome Aggregation DatabaseAmericanSub836A=0.040G=0.960
The Genome Aggregation DatabaseEast AsianSub1622A=0.001G=0.999
The Genome Aggregation DatabaseEuropeSub18486A=0.016G=0.984
The Genome Aggregation DatabaseGlobalStudy-wide29924A=0.127G=0.872
The Genome Aggregation DatabaseOtherSub302A=0.070G=0.930
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.192G=0.807
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.013G=0.987
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
rs75979280.000144alcohol dependence21314694

eQTL of rs7597928 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 rs7597928 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.