rs1506397

Homo sapiens
C>G
LOC105378771 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0206 (6165/29896,GnomAD)
G=0193 (5632/29118,TOPMED)
G=0191 (958/5008,1000G)
G=0249 (961/3854,ALSPAC)
G=0248 (919/3708,TWINSUK)
chr1:63679612 (GRCh38.p7) (1p31.3)
AD
GWASdb2
1   publication(s)
See rs on genome
36 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.63679612C>G
GRCh37.p13 chr 1NC_000001.10:g.64145283C>G

Gene: LOC105378771, uncharacterized LOC105378771(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105378771 transcript variant X1XR_947457.2:n.N/AIntron Variant
LOC105378771 transcript variant X2XR_947456.2:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.939G=0.061
1000GenomesAmericanSub694C=0.630G=0.370
1000GenomesEast AsianSub1008C=0.796G=0.204
1000GenomesEuropeSub1006C=0.726G=0.274
1000GenomesGlobalStudy-wide5008C=0.809G=0.191
1000GenomesSouth AsianSub978C=0.850G=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.751G=0.249
The Genome Aggregation DatabaseAfricanSub8704C=0.911G=0.089
The Genome Aggregation DatabaseAmericanSub832C=0.650G=0.350
The Genome Aggregation DatabaseEast AsianSub1604C=0.799G=0.201
The Genome Aggregation DatabaseEuropeSub18454C=0.744G=0.255
The Genome Aggregation DatabaseGlobalStudy-wide29896C=0.793G=0.206
The Genome Aggregation DatabaseOtherSub302C=0.780G=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.806G=0.193
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.752G=0.248
PMID Title Author Journal
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs15063976.01E-08alcohol consumption21665994

eQTL of rs1506397 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 rs1506397 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 )
chr16413998664141001E068-4282
chr16415682364156888E06911540
chr16415713764157261E06911854
chr16416340364163697E06918120
chr16416388464164427E06918601
chr16416515264165382E06919869
chr16410872364108792E070-36491
chr16410890164108951E070-36332
chr16410898364109138E070-36145
chr16411154664111722E070-33561
chr16416887864169157E07023595
chr16416925864169308E07023975
chr16416940064169582E07024117
chr16413998664141001E071-4282
chr16416320364163347E07117920
chr16416340364163697E07118120
chr16416515264165382E07119869
chr16410142864101659E072-43624
chr16410205364102103E072-43180
chr16416061164160818E07215328
chr16416091864161040E07215635
chr16416107764161221E07215794
chr16416320364163347E07217920
chr16416340364163697E07218120
chr16416388464164427E07218601
chr16413998664141001E074-4282
chr16410934364110000E081-35283
chr16413998664141001E081-4282
chr16414102364142025E081-3258
chr16410890164108951E082-36332
chr16410898364109138E082-36145
chr16410934364110000E082-35283
chr16411154664111722E082-33561
chr16414102364142025E082-3258
chr16416887864169157E08223595
chr16416925864169308E08223975