rs7030400

Homo sapiens
C>A
SAXO1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0150 (4491/29898,GnomAD)
A=0185 (5391/29118,TOPMED)
A=0140 (699/5008,1000G)
A=0099 (380/3854,ALSPAC)
A=0103 (381/3708,TWINSUK)
chr9:19014647 (GRCh38.p7) (9p22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
25 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.19014647C>A
GRCh37.p13 chr 9NC_000009.11:g.19014645C>A

Gene: SAXO1, stabilizer of axonemal microtubules 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SAXO1 transcript variant 2NM_001287049.1:c.N/AIntron Variant
SAXO1 transcript variant 3NM_001287050.1:c.N/AIntron Variant
SAXO1 transcript variant 1NM_153707.3:c.N/AIntron Variant
SAXO1 transcript variant X1XM_011517744.1:c.N/AIntron Variant
SAXO1 transcript variant X4XM_011517745.1:c.N/AIntron Variant
SAXO1 transcript variant X2XM_011517746.2:c.N/AIntron Variant
SAXO1 transcript variant X3XM_017014314.1:c.N/AIntron Variant
SAXO1 transcript variant X6XM_017014315.1:c.N/AIntron Variant
SAXO1 transcript variant X6XM_011517747.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.700A=0.300
1000GenomesAmericanSub694C=0.920A=0.080
1000GenomesEast AsianSub1008C=0.950A=0.050
1000GenomesEuropeSub1006C=0.906A=0.094
1000GenomesGlobalStudy-wide5008C=0.860A=0.140
1000GenomesSouth AsianSub978C=0.900A=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.901A=0.099
The Genome Aggregation DatabaseAfricanSub8694C=0.704A=0.296
The Genome Aggregation DatabaseAmericanSub836C=0.920A=0.080
The Genome Aggregation DatabaseEast AsianSub1616C=0.952A=0.048
The Genome Aggregation DatabaseEuropeSub18450C=0.905A=0.094
The Genome Aggregation DatabaseGlobalStudy-wide29898C=0.849A=0.150
The Genome Aggregation DatabaseOtherSub302C=0.900A=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.814A=0.185
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.897A=0.103
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs70304006.8E-05alcoholism (heaviness of drinking)21529783

eQTL of rs7030400 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 rs7030400 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 )
chr91905218919052255E06737544
chr91905238719052570E06737742
chr91905260519052657E06737960
chr91905268219052736E06738037
chr91898176618981961E068-32684
chr91898225318982303E068-32342
chr91898234918982690E068-31955
chr91898527018985563E068-29082
chr91905172219051949E06837077
chr91905218919052255E06837544
chr91905238719052570E06837742
chr91904832219048362E07033677
chr91905286719052955E07038222
chr91905218919052255E07137544
chr91905238719052570E07137742
chr91897949018979698E073-34947
chr91897973518979967E073-34678
chr91897998118980111E073-34534
chr91904832219048362E07433677
chr91905172219051949E07437077
chr91905172219051949E08137077
chr91905218919052255E08137544
chr91905238719052570E08137742
chr91905260519052657E08137960
chr91905268219052736E08138037







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr91904846319051244E06733818
chr91904846319051244E06833818
chr91904846319051244E06933818
chr91904846319051244E07033818
chr91904846319051244E07133818
chr91904846319051244E07233818
chr91904846319051244E07333818
chr91904846319051244E07433818
chr91904846319051244E08133818
chr91904846319051244E08233818