SNP Detail Info-rs7085141

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

P4HA1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0151 (4445/29420,GnomAD)
G=0197 (5756/29118,TOPMED)
G=0236 (1183/5008,1000G)
G=0058 (222/3854,ALSPAC)
G=0055 (204/3708,TWINSUK)

Position: chr10:73017023 (GRCh38.p7) (10q22.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 8 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 10	NC_000010.11:g.73017023A>G
GRCh37.p13 chr 10	NC_000010.10:g.74776781A>G

Molecule type	Change	Amino acid[Codon]	SO Term
P4HA1 transcript variant 1	NM_000917.3:c.	N/A	Intron Variant
P4HA1 transcript variant 2	NM_001017962.2:c.	N/A	Intron Variant
P4HA1 transcript variant 3	NM_001142595.1:c.	N/A	Intron Variant
P4HA1 transcript variant 4	NM_001142596.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.626	G=0.374
1000Genomes	American	Sub	694	A=0.880	G=0.120
1000Genomes	East Asian	Sub	1008	A=0.696	G=0.304
1000Genomes	Europe	Sub	1006	A=0.944	G=0.056
1000Genomes	Global	Study-wide	5008	A=0.764	G=0.236
1000Genomes	South Asian	Sub	978	A=0.750	G=0.250
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.942	G=0.058
The Genome Aggregation Database	African	Sub	8248	A=0.668	G=0.332
The Genome Aggregation Database	American	Sub	832	A=0.910	G=0.090
The Genome Aggregation Database	East Asian	Sub	1610	A=0.702	G=0.298
The Genome Aggregation Database	Europe	Sub	18428	A=0.938	G=0.061
The Genome Aggregation Database	Global	Study-wide	29420	A=0.848	G=0.151
The Genome Aggregation Database	Other	Sub	302	A=0.900	G=0.100
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.802	G=0.197
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.945	G=0.055

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr10	74777745	74778283	E067	964
chr10	74778388	74778726	E067	1607
chr10	74778858	74778992	E067	2077
chr10	74778388	74778726	E069	1607
chr10	74778858	74778992	E069	2077
chr10	74779019	74779069	E069	2238
chr10	74778388	74778726	E071	1607
chr10	74778858	74778992	E071	2077

rs7085141