rs620019

Homo sapiens
T>C
ROR1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0090 (2719/29954,GnomAD)
C=0088 (2564/29118,TOPMED)
C=0065 (325/5008,1000G)
chr1:63775258 (GRCh38.p7) (1p31.3)
AD
GWASdb2
1   publication(s)
See rs on genome
27 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.63775258T>C
GRCh37.p13 chr 1NC_000001.10:g.64240929T>C
ROR1 RefSeqGeneNG_032801.2:g.6240T>C

Gene: ROR1, receptor tyrosine kinase-like orphan receptor 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ROR1 transcript variant 2NM_001083592.1:c.N/AIntron Variant
ROR1 transcript variant 1NM_005012.3:c.N/AIntron Variant
ROR1 transcript variant X2XM_011541526.1:c.N/AGenic Upstream Transcript Variant
ROR1 transcript variant X1XM_017001376.1:c.N/AGenic Upstream Transcript Variant
ROR1 transcript variant X3XM_017001377.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.955C=0.045
1000GenomesAmericanSub694T=0.920C=0.080
1000GenomesEast AsianSub1008T=0.987C=0.013
1000GenomesEuropeSub1006T=0.899C=0.101
1000GenomesGlobalStudy-wide5008T=0.935C=0.065
1000GenomesSouth AsianSub978T=0.900C=0.100
The Genome Aggregation DatabaseAfricanSub8716T=0.935C=0.065
The Genome Aggregation DatabaseAmericanSub838T=0.910C=0.090
The Genome Aggregation DatabaseEast AsianSub1620T=0.986C=0.014
The Genome Aggregation DatabaseEuropeSub18478T=0.889C=0.110
The Genome Aggregation DatabaseGlobalStudy-wide29954T=0.909C=0.090
The Genome Aggregation DatabaseOtherSub302T=0.950C=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.911C=0.088
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs6200190.000884alcohol consumption (maxi-drinks)24277619

eQTL of rs620019 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 rs620019 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 )
chr16427949564279963E06738566
chr16427996964280037E06739040
chr16428272264283668E06741793
chr16428707264287675E06746143
chr16424492164245470E0683992
chr16424553064245811E0684601
chr16424634764246599E0685418
chr16427949564279963E06838566
chr16427996964280037E06839040
chr16428044564280514E06839516
chr16428055164280808E06839622
chr16428272264283668E06841793
chr16428707264287675E06846143
chr16428778264287863E06846853
chr16427949564279963E06938566
chr16428272264283668E07041793
chr16428444464284567E07043515
chr16424492164245470E0713992
chr16427630764276357E07135378
chr16427949564279963E07138566
chr16427996964280037E07139040
chr16428272264283668E07141793
chr16427949564279963E07238566
chr16428272264283668E07241793
chr16428839664288503E07247467
chr16427949564279963E07438566
chr16427996964280037E07439040







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr16423916464241805E0670
chr16423916464241805E0680
chr16423916464241805E0690
chr16423916464241805E0700
chr16423916464241805E0710
chr16423916464241805E0720
chr16423916464241805E0730
chr16423916464241805E0740
chr16423916464241805E0820