rs4148358

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

ABCC1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0233 (6971/29896,GnomAD)
T=0254 (7414/29118,TOPMED)
T=0261 (1308/5008,1000G)
T=0221 (850/3854,ALSPAC)
T=0246 (912/3708,TWINSUK)

Position: chr16:16093318 (GRCh38.p7) (16p13.11)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 8 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 16	NC_000016.10:g.16093318C>T
GRCh37.p13 chr 16	NC_000016.9:g.16187175C>T
ABCC1 RefSeqGene	NG_028268.1:g.148742C>T
GRCh38.p7 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.1751176T>C

Gene: ABCC1, ATP binding cassette subfamily C member 1(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABCC1 transcript	NM_004996.3:c.	N/A	Intron Variant
ABCC1 transcript variant X2	XM_011522497.1:c.	N/A	Intron Variant
ABCC1 transcript variant X5	XM_011522498.2:c.	N/A	Intron Variant
ABCC1 transcript variant X1	XM_017023237.1:c.	N/A	Intron Variant
ABCC1 transcript variant X3	XM_017023238.1:c.	N/A	Intron Variant
ABCC1 transcript variant X4	XM_017023239.1:c.	N/A	Intron Variant
ABCC1 transcript variant X6	XM_017023240.1:c.	N/A	Intron Variant
ABCC1 transcript variant X7	XM_017023241.1:c.	N/A	Intron Variant
ABCC1 transcript variant X8	XM_017023242.1:c.	N/A	Intron Variant
ABCC1 transcript variant X9	XM_017023243.1:c.	N/A	Intron Variant

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 )
chr16	16186734	16186803	E070	-372
chr16	16186976	16187053	E070	-122
chr16	16187054	16187830	E070	0
chr16	16165506	16166035	E071	-21140
chr16	16213592	16213698	E071	26417
chr16	16189814	16189922	E074	2639
chr16	16189965	16190005	E074	2790
chr16	16190085	16190854	E074	2910