rs1687320

Homo sapiens
C>A / C>G
FGD5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0253 (7583/29882,GnomAD)
G=0269 (7856/29118,TOPMED)
G=0289 (1445/5008,1000G)
G=0201 (774/3854,ALSPAC)
G=0209 (775/3708,TWINSUK)
chr3:14853127 (GRCh38.p7) (3p25.1)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.14853127C>A
GRCh38.p7 chr 3NC_000003.12:g.14853127C>G
GRCh37.p13 chr 3NC_000003.11:g.14894634C>A
GRCh37.p13 chr 3NC_000003.11:g.14894634C>G

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
1000GenomesAfricanSub1322C=0.703G=0.297
1000GenomesAmericanSub694C=0.700G=0.300
1000GenomesEast AsianSub1008C=0.618G=0.382
1000GenomesEuropeSub1006C=0.768G=0.232
1000GenomesGlobalStudy-wide5008C=0.711G=0.289
1000GenomesSouth AsianSub978C=0.770G=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.799G=0.201
The Genome Aggregation DatabaseAfricanSub8698C=0.697G=0.303
The Genome Aggregation DatabaseAmericanSub836C=0.660G=0.34,
The Genome Aggregation DatabaseEast AsianSub1602C=0.625G=0.374
The Genome Aggregation DatabaseEuropeSub18444C=0.784G=0.215
The Genome Aggregation DatabaseGlobalStudy-wide29882C=0.746G=0.253
The Genome Aggregation DatabaseOtherSub302C=0.700G=0.30,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.730G=0.269
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.791G=0.209
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs16873200.000128nicotine smoking19268276

eQTL of rs1687320 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 rs1687320 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.