rs17168703

Homo sapiens
A>G
SLC25A48 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0173 (5196/29952,GnomAD)
G=0156 (4560/29118,TOPMED)
G=0204 (1021/5008,1000G)
G=0170 (657/3854,ALSPAC)
G=0168 (622/3708,TWINSUK)
chr5:135594000 (GRCh38.p7) (5q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
35 Enhancers around
32 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.135594000A>G
GRCh37.p13 chr 5NC_000005.9:g.134929690A>G

Gene: SLC25A48, solute carrier family 25 member 48(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC25A48 transcript variant 2NM_145282.4:c.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X16XM_017009090.1:c.N/AIntron Variant
SLC25A48 transcript variant X18XM_017009092.1:c.N/AIntron Variant
SLC25A48 transcript variant X11XM_005271903.1:c.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X3XM_006714544.1:c.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X4XM_006714546.1:c.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X9XM_006714550.1:c.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X14XM_006714552.2:c.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X10XM_011543196.1:c.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X12XM_011543199.1:c.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X7XM_017009086.1:c.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X5XM_017009087.1:c.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X6XM_017009088.1:c.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X8XM_017009089.1:c.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X13XM_017009091.1:c.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X1XR_001742008.1:n.N/AIntron Variant
SLC25A48 transcript variant X1XR_001742004.1:n.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X2XR_001742005.1:n.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X5XR_001742006.1:n.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X7XR_001742007.1:n.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X20XR_001742009.1:n.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X21XR_001742010.1:n.N/AGenic Upstream Transcript Variant
SLC25A48 transcript variant X22XR_001742011.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.890G=0.110
1000GenomesAmericanSub694A=0.830G=0.170
1000GenomesEast AsianSub1008A=0.674G=0.326
1000GenomesEuropeSub1006A=0.814G=0.186
1000GenomesGlobalStudy-wide5008A=0.796G=0.204
1000GenomesSouth AsianSub978A=0.750G=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.830G=0.170
The Genome Aggregation DatabaseAfricanSub8718A=0.883G=0.117
The Genome Aggregation DatabaseAmericanSub838A=0.840G=0.160
The Genome Aggregation DatabaseEast AsianSub1618A=0.691G=0.309
The Genome Aggregation DatabaseEuropeSub18476A=0.812G=0.187
The Genome Aggregation DatabaseGlobalStudy-wide29952A=0.826G=0.173
The Genome Aggregation DatabaseOtherSub302A=0.760G=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.843G=0.156
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.832G=0.168
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
rs171687030.000558alcohol dependence21314694

eQTL of rs17168703 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 rs17168703 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 )
chr5134900895134900968E067-28722
chr5134901035134901221E067-28469
chr5134905859134906249E067-23441
chr5134900066134900260E068-29430
chr5134900391134900441E068-29249
chr5134900626134900712E068-28978
chr5134900895134900968E068-28722
chr5134901035134901221E068-28469
chr5134901445134902136E068-27554
chr5134901035134901221E069-28469
chr5134901445134902136E069-27554
chr5134881820134882017E070-47673
chr5134882027134882137E070-47553
chr5134931874134932138E0702184
chr5134938682134938756E0708992
chr5134938841134939308E0709151
chr5134977746134977837E07048056
chr5134977841134977891E07048151
chr5134978010134978109E07048320
chr5134978159134978551E07048469
chr5134900895134900968E071-28722
chr5134901035134901221E071-28469
chr5134901445134902136E071-27554
chr5134900895134900968E074-28722
chr5134901035134901221E074-28469
chr5134901445134902136E074-27554
chr5134881820134882017E081-47673
chr5134882027134882137E081-47553
chr5134977746134977837E08148056
chr5134977841134977891E08148151
chr5134978010134978109E08148320
chr5134978159134978551E08148469
chr5134881820134882017E082-47673
chr5134882027134882137E082-47553
chr5134938841134939308E0829151








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5134880081134880231E067-49459
chr5134913950134914032E067-15658
chr5134914090134914179E067-15511
chr5134914316134915324E067-14366
chr5134880081134880231E068-49459
chr5134880310134880477E068-49213
chr5134913950134914032E068-15658
chr5134914090134914179E068-15511
chr5134914316134915324E068-14366
chr5134880081134880231E069-49459
chr5134880310134880477E069-49213
chr5134913950134914032E069-15658
chr5134914090134914179E069-15511
chr5134914316134915324E069-14366
chr5134880081134880231E071-49459
chr5134880310134880477E071-49213
chr5134913950134914032E071-15658
chr5134914090134914179E071-15511
chr5134914316134915324E071-14366
chr5134880081134880231E072-49459
chr5134880310134880477E072-49213
chr5134913950134914032E072-15658
chr5134914090134914179E072-15511
chr5134914316134915324E072-14366
chr5134880081134880231E073-49459
chr5134913950134914032E073-15658
chr5134914090134914179E073-15511
chr5134914316134915324E073-14366
chr5134880081134880231E074-49459
chr5134880310134880477E074-49213
chr5134880081134880231E082-49459
chr5134914316134915324E082-14366