rs13070730

Homo sapiens
T>C
FGD5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0477 (14293/29910,GnomAD)
C=0480 (13983/29118,TOPMED)
C=0454 (2273/5008,1000G)
T==0453 (1745/3854,ALSPAC)
T==0457 (1694/3708,TWINSUK)
chr3:14831707 (GRCh38.p7) (3p25.1)
AD
GWASCatalog
1   publication(s)
See rs on genome
49 Enhancers around
17 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.14831707T>C
GRCh37.p13 chr 3NC_000003.11:g.14873214T>C

Gene: FGD5, FYVE, RhoGEF and PH domain containing 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FGD5 transcript variant 2NM_001320276.1:c.N/AIntron Variant
FGD5 transcript variant 1NM_152536.3:c.N/AIntron Variant
FGD5 transcript variant X1XM_011533422.1:c.N/AIntron Variant
FGD5 transcript variant X2XM_011533423.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.511C=0.489
1000GenomesAmericanSub694T=0.570C=0.430
1000GenomesEast AsianSub1008T=0.741C=0.259
1000GenomesEuropeSub1006T=0.466C=0.534
1000GenomesGlobalStudy-wide5008T=0.546C=0.454
1000GenomesSouth AsianSub978T=0.460C=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.453C=0.547
The Genome Aggregation DatabaseAfricanSub8710T=0.514C=0.486
The Genome Aggregation DatabaseAmericanSub838T=0.530C=0.470
The Genome Aggregation DatabaseEast AsianSub1612T=0.771C=0.229
The Genome Aggregation DatabaseEuropeSub18448T=0.431C=0.568
The Genome Aggregation DatabaseGlobalStudy-wide29910T=0.477C=0.522
The Genome Aggregation DatabaseOtherSub302T=0.550C=0.450
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.519C=0.480
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.457C=0.543
PMID Title Author Journal
24166409Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs130707305E-06alcohol dependence24166409

eQTL of rs13070730 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 rs13070730 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 )
chr31483455514834599E067-38615
chr31490301314903314E06729799
chr31490341514903476E06730201
chr31486454914864616E068-8598
chr31487762314877972E0684409
chr31487836114878423E0685147
chr31487853914878629E0685325
chr31487864414878811E0685430
chr31487883514879019E0685621
chr31487902814879155E0685814
chr31490341514903476E06830201
chr31490449214904690E06831278
chr31487918414879725E0695970
chr31482559814825990E070-47224
chr31482605414826199E070-47015
chr31487762314877972E0704409
chr31487836114878423E0705147
chr31487853914878629E0705325
chr31487864414878811E0705430
chr31487883514879019E0705621
chr31487902814879155E0705814
chr31487918414879725E0705970
chr31488007214880122E0706858
chr31488018214880240E0706968
chr31488058414880661E0707370
chr31488086614881019E0707652
chr31490301314903314E07029799
chr31490341514903476E07030201
chr31491309314913168E07039879
chr31487762314877972E0714409
chr31487836114878423E0715147
chr31487853914878629E0715325
chr31487864414878811E0715430
chr31490301314903314E07229799
chr31490341514903476E07230201
chr31487762314877972E0734409
chr31487836114878423E0735147
chr31487853914878629E0735325
chr31488058414880661E0737370
chr31490301314903314E07329799
chr31490341514903476E07330201
chr31492081114921330E07347597
chr31482559814825990E081-47224
chr31482605414826199E081-47015
chr31487853914878629E0815325
chr31487864414878811E0815430
chr31487883514879019E0815621
chr31488784414888109E08114630
chr31482559814825990E082-47224









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr31485153614852400E067-20814
chr31485242214852945E067-20269
chr31485153614852400E068-20814
chr31485242214852945E068-20269
chr31485153614852400E069-20814
chr31485242214852945E069-20269
chr31485306314853779E069-19435
chr31485153614852400E070-20814
chr31485242214852945E071-20269
chr31485306314853779E071-19435
chr31485153614852400E072-20814
chr31485242214852945E072-20269
chr31485153614852400E073-20814
chr31485242214852945E073-20269
chr31485306314853779E073-19435
chr31485242214852945E074-20269
chr31485153614852400E082-20814