rs10511997

Homo sapiens
G>A
GDA : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0080 (2409/29974,GnomAD)
A=0055 (1601/29118,TOPMED)
A=0062 (311/5008,1000G)
A=0096 (370/3854,ALSPAC)
A=0095 (351/3708,TWINSUK)
chr9:72145640 (GRCh38.p7) (9q21.13)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.72145640G>A
GRCh37.p13 chr 9NC_000009.11:g.74760556G>A
GDA RefSeqGeneNG_030562.1:g.36046G>A

Gene: GDA, guanine deaminase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GDA transcript variant 4NM_001242507.2:c.N/AIntron Variant
GDA transcript variant 1NM_001242505.2:c.N/AGenic Upstream Transcript Variant
GDA transcript variant 3NM_001242506.2:c.N/AGenic Upstream Transcript Variant
GDA transcript variant 2NM_004293.4:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X19XM_011519221.1:c.N/AIntron Variant
GDA transcript variant X17XM_017015338.1:c.N/AIntron Variant
GDA transcript variant X13XM_005252317.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X2XM_011519213.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X3XM_011519214.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X6XM_011519215.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X8XM_011519216.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X10XM_011519217.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X14XM_011519218.2:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X15XM_011519219.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X18XM_011519220.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X1XM_011519222.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X21XM_011519223.2:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X5XM_017015333.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X7XM_017015334.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X9XM_017015335.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X14XM_017015336.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X17XM_017015337.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X21XM_017015339.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X24XM_017015340.1:c.N/AGenic Upstream Transcript Variant
GDA transcript variant X4XR_001746423.1:n.N/AGenic Upstream Transcript Variant
GDA transcript variant X11XR_001746424.1:n.N/AGenic Upstream Transcript Variant
GDA transcript variant X18XR_001746425.1:n.N/AGenic Upstream Transcript Variant
GDA transcript variant X12XR_929878.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.996A=0.004
1000GenomesAmericanSub694G=0.900A=0.100
1000GenomesEast AsianSub1008G=0.924A=0.076
1000GenomesEuropeSub1006G=0.900A=0.100
1000GenomesGlobalStudy-wide5008G=0.938A=0.062
1000GenomesSouth AsianSub978G=0.940A=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.904A=0.096
The Genome Aggregation DatabaseAfricanSub8728G=0.984A=0.016
The Genome Aggregation DatabaseAmericanSub838G=0.910A=0.090
The Genome Aggregation DatabaseEast AsianSub1616G=0.918A=0.082
The Genome Aggregation DatabaseEuropeSub18490G=0.890A=0.109
The Genome Aggregation DatabaseGlobalStudy-wide29974G=0.919A=0.080
The Genome Aggregation DatabaseOtherSub302G=0.870A=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.945A=0.055
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.905A=0.095
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs105119975.6E-05alcohol consumptionpha001401

eQTL of rs10511997 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 rs10511997 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 )
chr97475942874759536E081-1020
chr97476003974760284E081-272
chr97476036774760549E081-7
chr97476337074763543E0812814
chr97476354774763629E0812991
chr97476372574763775E0813169

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr97476392174764928E0673365
chr97476496674765016E0674410
chr97476516674765334E0674610
chr97476538774765481E0674831
chr97476557574765921E0675019
chr97476392174764928E0683365
chr97476496674765016E0684410
chr97476516674765334E0684610
chr97476392174764928E0693365
chr97476496674765016E0694410
chr97476516674765334E0694610
chr97476392174764928E0713365
chr97476392174764928E0723365
chr97476496674765016E0724410
chr97476516674765334E0724610
chr97476538774765481E0724831
chr97476557574765921E0725019
chr97476496674765016E0734410
chr97476516674765334E0734610
chr97476538774765481E0734831
chr97476557574765921E0735019
chr97476392174764928E0823365
chr97476496674765016E0824410
chr97476516674765334E0824610
chr97476538774765481E0824831
chr97476557574765921E0825019