rs17168705

Homo sapiens
C>A
SLC25A48 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0150 (4510/29940,GnomAD)
A=0122 (3554/29118,TOPMED)
A=0181 (905/5008,1000G)
A=0168 (649/3854,ALSPAC)
A=0164 (607/3708,TWINSUK)
chr5:135594315 (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.135594315C>A
GRCh37.p13 chr 5NC_000005.9:g.134930005C>A

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
1000GenomesAfricanSub1322C=0.978A=0.022
1000GenomesAmericanSub694C=0.840A=0.160
1000GenomesEast AsianSub1008C=0.664A=0.336
1000GenomesEuropeSub1006C=0.818A=0.182
1000GenomesGlobalStudy-wide5008C=0.819A=0.181
1000GenomesSouth AsianSub978C=0.750A=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.832A=0.168
The Genome Aggregation DatabaseAfricanSub8710C=0.954A=0.046
The Genome Aggregation DatabaseAmericanSub838C=0.850A=0.150
The Genome Aggregation DatabaseEast AsianSub1618C=0.679A=0.321
The Genome Aggregation DatabaseEuropeSub18472C=0.816A=0.183
The Genome Aggregation DatabaseGlobalStudy-wide29940C=0.849A=0.150
The Genome Aggregation DatabaseOtherSub302C=0.760A=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.877A=0.122
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.836A=0.164
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
rs171687050.00041alcohol dependence21314694

eQTL of rs17168705 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 rs17168705 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 )
chr5134900895134900968E067-29037
chr5134901035134901221E067-28784
chr5134905859134906249E067-23756
chr5134900066134900260E068-29745
chr5134900391134900441E068-29564
chr5134900626134900712E068-29293
chr5134900895134900968E068-29037
chr5134901035134901221E068-28784
chr5134901445134902136E068-27869
chr5134901035134901221E069-28784
chr5134901445134902136E069-27869
chr5134881820134882017E070-47988
chr5134882027134882137E070-47868
chr5134931874134932138E0701869
chr5134938682134938756E0708677
chr5134938841134939308E0708836
chr5134977746134977837E07047741
chr5134977841134977891E07047836
chr5134978010134978109E07048005
chr5134978159134978551E07048154
chr5134900895134900968E071-29037
chr5134901035134901221E071-28784
chr5134901445134902136E071-27869
chr5134900895134900968E074-29037
chr5134901035134901221E074-28784
chr5134901445134902136E074-27869
chr5134881820134882017E081-47988
chr5134882027134882137E081-47868
chr5134977746134977837E08147741
chr5134977841134977891E08147836
chr5134978010134978109E08148005
chr5134978159134978551E08148154
chr5134881820134882017E082-47988
chr5134882027134882137E082-47868
chr5134938841134939308E0828836








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5134880081134880231E067-49774
chr5134913950134914032E067-15973
chr5134914090134914179E067-15826
chr5134914316134915324E067-14681
chr5134880081134880231E068-49774
chr5134880310134880477E068-49528
chr5134913950134914032E068-15973
chr5134914090134914179E068-15826
chr5134914316134915324E068-14681
chr5134880081134880231E069-49774
chr5134880310134880477E069-49528
chr5134913950134914032E069-15973
chr5134914090134914179E069-15826
chr5134914316134915324E069-14681
chr5134880081134880231E071-49774
chr5134880310134880477E071-49528
chr5134913950134914032E071-15973
chr5134914090134914179E071-15826
chr5134914316134915324E071-14681
chr5134880081134880231E072-49774
chr5134880310134880477E072-49528
chr5134913950134914032E072-15973
chr5134914090134914179E072-15826
chr5134914316134915324E072-14681
chr5134880081134880231E073-49774
chr5134913950134914032E073-15973
chr5134914090134914179E073-15826
chr5134914316134915324E073-14681
chr5134880081134880231E074-49774
chr5134880310134880477E074-49528
chr5134880081134880231E082-49774
chr5134914316134915324E082-14681