rs10498449

Homo sapiens
C>G
LOC105370504 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0144 (4316/29964,GnomAD)
G=0119 (3490/29118,TOPMED)
G=0088 (442/5008,1000G)
G=0191 (735/3854,ALSPAC)
G=0197 (730/3708,TWINSUK)
chr14:53399284 (GRCh38.p7) (14q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
14 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.53399284C>G
GRCh37.p13 chr 14NC_000014.8:g.53866002C>G

Gene: LOC105370504, uncharacterized LOC105370504(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370504 transcript variant X1XR_001750969.1:n.N/AIntron Variant
LOC105370504 transcript variant X4XR_001750971.1:n.N/AIntron Variant
LOC105370504 transcript variant X5XR_001750972.1:n.N/AIntron Variant
LOC105370504 transcript variant X8XR_001750974.1:n.N/AIntron Variant
LOC105370504 transcript variant X9XR_001750975.1:n.N/AIntron Variant
LOC105370504 transcript variant X10XR_001750976.1:n.N/AIntron Variant
LOC105370504 transcript variant X3XR_943876.2:n.N/AIntron Variant
LOC105370504 transcript variant X6XR_943877.2:n.N/AIntron Variant
LOC105370504 transcript variant X11XR_943879.2:n.N/AIntron Variant
LOC105370504 transcript variant X2XR_001750970.1:n.N/AGenic Upstream Transcript Variant
LOC105370504 transcript variant X7XR_001750973.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.977G=0.023
1000GenomesAmericanSub694C=0.920G=0.080
1000GenomesEast AsianSub1008C=0.982G=0.018
1000GenomesEuropeSub1006C=0.821G=0.179
1000GenomesGlobalStudy-wide5008C=0.912G=0.088
1000GenomesSouth AsianSub978C=0.840G=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.809G=0.191
The Genome Aggregation DatabaseAfricanSub8728C=0.947G=0.053
The Genome Aggregation DatabaseAmericanSub838C=0.930G=0.070
The Genome Aggregation DatabaseEast AsianSub1610C=0.974G=0.026
The Genome Aggregation DatabaseEuropeSub18486C=0.799G=0.200
The Genome Aggregation DatabaseGlobalStudy-wide29964C=0.856G=0.144
The Genome Aggregation DatabaseOtherSub302C=0.850G=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.880G=0.119
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.803G=0.197
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs104984491.34E-05alcohol consumptionpha001399

eQTL of rs10498449 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs10498449 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

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 )
chr145382213653822923E067-43079
chr145382299453823352E067-42650
chr145382213653822923E069-43079
chr145382299453823352E069-42650
chr145382213653822923E071-43079
chr145382299453823352E071-42650
chr145382341953823746E071-42256
chr145382213653822923E072-43079
chr145382299453823352E072-42650
chr145382341953823746E072-42256
chr145382213653822923E073-43079
chr145382299453823352E073-42650
chr145382299453823352E074-42650
chr145382341953823746E074-42256