SNP Detail Info-rs1868361

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

KCCAT333 : Intron Variant
LOC105375172 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0156 (4668/29910,GnomAD)
T=0134 (3905/29118,TOPMED)
T=0210 (1054/5008,1000G)
T=0184 (711/3854,ALSPAC)
T=0192 (713/3708,TWINSUK)

Position: chr7:17456045 (GRCh38.p7) (7p21.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 5 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.17456045C>T
GRCh37.p13 chr 7	NC_000007.13:g.17495669C>T

Molecule type	Change	Amino acid[Codon]	SO Term
KCCAT333 transcript variant 1	NR_110014.1:n.	N/A	Intron Variant
KCCAT333 transcript variant 2	NR_110015.1:n.	N/A	Intron Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105375172 transcript	XR_001745108.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.927	T=0.073
1000Genomes	American	Sub	694	C=0.670	T=0.330
1000Genomes	East Asian	Sub	1008	C=0.671	T=0.329
1000Genomes	Europe	Sub	1006	C=0.839	T=0.161
1000Genomes	Global	Study-wide	5008	C=0.790	T=0.210
1000Genomes	South Asian	Sub	978	C=0.760	T=0.240
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.816	T=0.184
The Genome Aggregation Database	African	Sub	8714	C=0.911	T=0.089
The Genome Aggregation Database	American	Sub	836	C=0.680	T=0.320
The Genome Aggregation Database	East Asian	Sub	1604	C=0.716	T=0.284
The Genome Aggregation Database	Europe	Sub	18456	C=0.830	T=0.169
The Genome Aggregation Database	Global	Study-wide	29910	C=0.843	T=0.156
The Genome Aggregation Database	Other	Sub	300	C=0.880	T=0.120
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.865	T=0.134
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.808	T=0.192

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr7	17536751	17536801	E082	41082
chr7	17536814	17536961	E082	41145
chr7	17537070	17537125	E082	41401
chr7	17537150	17537230	E082	41481
chr7	17537312	17537718	E082	41643

rs1868361