SNP Detail Info-rs1567449

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

SPATA17 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0206 (6171/29896,GnomAD)
C==0185 (5394/29116,TOPMED)
C==0299 (1496/5008,1000G)
C==0169 (651/3854,ALSPAC)
C==0179 (665/3708,TWINSUK)

Position: chr1:217845614 (GRCh38.p7) (1q41)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 3 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.217845614C>T
GRCh37.p13 chr 1	NC_000001.10:g.218018956C>T

Molecule type	Change	Amino acid[Codon]	SO Term
SPATA17 transcript	NM_138796.3:c.	N/A	Intron Variant
SPATA17 transcript variant X1	XM_005273052.1:c.	N/A	Intron Variant
SPATA17 transcript variant X2	XM_006711165.3:c.	N/A	Intron Variant
SPATA17 transcript variant X3	XM_011509194.2:c.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.208	T=0.792
1000Genomes	American	Sub	694	C=0.180	T=0.820
1000Genomes	East Asian	Sub	1008	C=0.534	T=0.466
1000Genomes	Europe	Sub	1006	C=0.150	T=0.850
1000Genomes	Global	Study-wide	5008	C=0.299	T=0.701
1000Genomes	South Asian	Sub	978	C=0.420	T=0.580
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.169	T=0.831
The Genome Aggregation Database	African	Sub	8710	C=0.212	T=0.788
The Genome Aggregation Database	American	Sub	836	C=0.200	T=0.800
The Genome Aggregation Database	East Asian	Sub	1562	C=0.571	T=0.429
The Genome Aggregation Database	Europe	Sub	18486	C=0.173	T=0.826
The Genome Aggregation Database	Global	Study-wide	29896	C=0.206	T=0.793
The Genome Aggregation Database	Other	Sub	302	C=0.200	T=0.800
Trans-Omics for Precision Medicine	Global	Study-wide	29116	C=0.185	T=0.814
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.179	T=0.821

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	218030432	218030913	E070	11476
chr1	218031012	218031108	E070	12056
chr1	218031175	218031284	E070	12219

rs1567449