rs169439

Homo sapiens
C>A
FRMPD2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0182 (5454/29952,GnomAD)
C==0256 (7471/29118,TOPMED)
C==0177 (885/5008,1000G)
chr10:48242632 (GRCh38.p7) (10q11.22)
ND
GWASdb2
1   publication(s)
See rs on genome
131 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.48242632C>A
GRCh37.p13 chr 10NC_000010.10:g.49450675C>A

Gene: FRMPD2, FERM and PDZ domain containing 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FRMPD2 transcript variant 3NM_001018071.3:c.N/AIntron Variant
FRMPD2 transcript variant 5NM_001318191.1:c.N/AIntron Variant
FRMPD2 transcript variant 4NM_001042512.2:c.N/AGenic Upstream Transcript Variant
FRMPD2 transcript variant X1XM_011539327.2:c.N/AIntron Variant
FRMPD2 transcript variant X2XM_017015744.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.556A=0.444
1000GenomesAmericanSub694C=0.090A=0.910
1000GenomesEast AsianSub1008C=0.001A=0.999
1000GenomesEuropeSub1006C=0.058A=0.942
1000GenomesGlobalStudy-wide5008C=0.177A=0.823
1000GenomesSouth AsianSub978C=0.030A=0.970
The Genome Aggregation DatabaseAfricanSub8704C=0.494A=0.506
The Genome Aggregation DatabaseAmericanSub838C=0.050A=0.950
The Genome Aggregation DatabaseEast AsianSub1622C=0.001A=0.999
The Genome Aggregation DatabaseEuropeSub18486C=0.058A=0.941
The Genome Aggregation DatabaseGlobalStudy-wide29952C=0.182A=0.817
The Genome Aggregation DatabaseOtherSub302C=0.110A=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.256A=0.743
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs1694391.3E-05alcohol and nictotine co-dependence20158304

eQTL of rs169439 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 rs169439 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 )
chr104942132849421392E067-29283
chr104944161949441806E067-8869
chr104944184049441923E067-8752
chr104944704349447197E067-3478
chr104949551849495595E06744843
chr104949567349496437E06744998
chr104949651349496858E06745838
chr104949721749497306E06746542
chr104949761449498177E06746939
chr104942112149421175E068-29500
chr104942132849421392E068-29283
chr104942318649423242E068-27433
chr104942343849423551E068-27124
chr104944422749444366E068-6309
chr104944441049444564E068-6111
chr104944457149444699E068-5976
chr104944704349447197E068-3478
chr104947853849478639E06827863
chr104947881149478879E06828136
chr104947890949479022E06828234
chr104947919549479366E06828520
chr104949567349496437E06844998
chr104949651349496858E06845838
chr104949686849496930E06846193
chr104949721749497306E06846542
chr104949761449498177E06846939
chr104942112149421175E069-29500
chr104942132849421392E069-29283
chr104944106349441123E069-9552
chr104944422749444366E069-6309
chr104944704349447197E069-3478
chr104944737549447463E069-3212
chr104944946049449520E069-1155
chr104944963649449697E069-978
chr104944972249449772E069-903
chr104947919549479366E06928520
chr104947945749479581E06928782
chr104947961249479784E06928937
chr104947983749479887E06929162
chr104949551849495595E06944843
chr104949567349496437E06944998
chr104949651349496858E06945838
chr104949686849496930E06946193
chr104949721749497306E06946542
chr104946325949463432E07012584
chr104946356049463661E07012885
chr104949506449495108E07044389
chr104949551849495595E07044843
chr104949567349496437E07044998
chr104942112149421175E071-29500
chr104942132849421392E071-29283
chr104942207149422150E071-28525
chr104944161949441806E071-8869
chr104944184049441923E071-8752
chr104944210849442228E071-8447
chr104944422749444366E071-6309
chr104944441049444564E071-6111
chr104944457149444699E071-5976
chr104944704349447197E071-3478
chr104944737549447463E071-3212
chr104945926549460382E0718590
chr104947881149478879E07128136
chr104947890949479022E07128234
chr104947919549479366E07128520
chr104947945749479581E07128782
chr104947961249479784E07128937
chr104947983749479887E07129162
chr104949506449495108E07144389
chr104949551849495595E07144843
chr104949567349496437E07144998
chr104949651349496858E07145838
chr104949686849496930E07146193
chr104949721749497306E07146542
chr104949761449498177E07146939
chr104942112149421175E072-29500
chr104942132849421392E072-29283
chr104944106349441123E072-9552
chr104944704349447197E072-3478
chr104944737549447463E072-3212
chr104944963649449697E072-978
chr104944972249449772E072-903
chr104947983749479887E07229162
chr104949551849495595E07244843
chr104949567349496437E07244998
chr104949651349496858E07245838
chr104949686849496930E07246193
chr104949721749497306E07246542
chr104949761449498177E07246939
chr104942112149421175E073-29500
chr104942132849421392E073-29283
chr104944704349447197E073-3478
chr104944737549447463E073-3212
chr104949567349496437E07344998
chr104949651349496858E07345838
chr104949686849496930E07346193
chr104949721749497306E07346542
chr104949761449498177E07346939
chr104942112149421175E074-29500
chr104942132849421392E074-29283
chr104942343849423551E074-27124
chr104943131849431426E074-19249
chr104944106349441123E074-9552
chr104944161949441806E074-8869
chr104944184049441923E074-8752
chr104944210849442228E074-8447
chr104944389949444083E074-6592
chr104944422749444366E074-6309
chr104944441049444564E074-6111
chr104944457149444699E074-5976
chr104944704349447197E074-3478
chr104944737549447463E074-3212
chr104944763349447733E074-2942
chr104945926549460382E0748590
chr104946555249466772E07414877
chr104949551849495595E07444843
chr104949567349496437E07444998
chr104949651349496858E07445838
chr104949686849496930E07446193
chr104949721749497306E07446542
chr104949761449498177E07446939
chr104940148649402038E081-48637
chr104940228549402341E081-48334
chr104940236149402634E081-48041
chr104942318649423242E081-27433
chr104942343849423551E081-27124
chr104949567349496437E08144998
chr104949761449498177E08146939
chr104940148649402038E082-48637
chr104940228549402341E082-48334
chr104940236149402634E082-48041
chr104940266349403327E082-47348










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr104948171249481801E06831037
chr104948186549482134E06831190
chr104948216849482212E06831493
chr104948222149482271E06831546
chr104948186549482134E07431190
chr104948216849482212E07431493
chr104948222149482271E07431546