SNP Detail Info-rs7997918

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

LOC105370217 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0174 (5214/29892,GnomAD)
C=0154 (4496/29116,TOPMED)
C=0181 (908/5008,1000G)
C=0168 (648/3854,ALSPAC)
C=0183 (678/3708,TWINSUK)

Position: chr13:57516077 (GRCh38.p7) (13q21.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 1 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.57516077A>C
GRCh37.p13 chr 13	NC_000013.10:g.58090211A>C

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105370217 transcript	XR_941983.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.877	C=0.123
1000Genomes	American	Sub	694	A=0.920	C=0.080
1000Genomes	East Asian	Sub	1008	A=0.635	C=0.365
1000Genomes	Europe	Sub	1006	A=0.825	C=0.175
1000Genomes	Global	Study-wide	5008	A=0.819	C=0.181
1000Genomes	South Asian	Sub	978	A=0.850	C=0.150
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.832	C=0.168
The Genome Aggregation Database	African	Sub	8726	A=0.876	C=0.124
The Genome Aggregation Database	American	Sub	836	A=0.910	C=0.090
The Genome Aggregation Database	East Asian	Sub	1584	A=0.660	C=0.340
The Genome Aggregation Database	Europe	Sub	18444	A=0.811	C=0.188
The Genome Aggregation Database	Global	Study-wide	29892	A=0.825	C=0.174
The Genome Aggregation Database	Other	Sub	302	A=0.860	C=0.140
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.845	C=0.154
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.817	C=0.183

rs7997918