rs571846

Homo sapiens
C>T
RNF217 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0021 (639/29926,GnomAD)
T=0034 (1015/29118,TOPMED)
T=0027 (137/5008,1000G)
T=0000 (0/3854,ALSPAC)
T=0000 (1/3708,TWINSUK)
chr6:125080418 (GRCh38.p7) (6q22.31)
AD
GWASdb2
1   publication(s)
See rs on genome
91 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.125080418C>T
GRCh37.p13 chr 6NC_000006.11:g.125401564C>T

Gene: RNF217, ring finger protein 217(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RNF217 transcript variant 1NM_001286398.2:c.N/AIntron Variant
RNF217 transcript variant 2NM_152553.4:c.N/AIntron Variant
RNF217 transcript variant 3NR_104440.2:n.N/AIntron Variant
RNF217 transcript variant 4NR_136734.1:n.N/AIntron Variant
RNF217 transcript variant X1XM_011535494.2:c.N/AIntron Variant
RNF217 transcript variant X3XM_011535496.2:c.N/AIntron Variant
RNF217 transcript variant X14XM_011535500.2:c.N/AIntron Variant
RNF217 transcript variant X2XM_011535495.2:c.N/AGenic Downstream Transcript Variant
RNF217 transcript variant X7XM_011535499.2:c.N/AGenic Downstream Transcript Variant
RNF217 transcript variant X9XM_017010317.1:c.N/AGenic Downstream Transcript Variant
RNF217 transcript variant X5XR_001743178.1:n.N/AIntron Variant
RNF217 transcript variant X6XR_001743179.1:n.N/AIntron Variant
RNF217 transcript variant X4XR_942305.2:n.N/AIntron Variant
RNF217 transcript variant X10XR_001743180.1:n.N/AGenic Downstream Transcript Variant
RNF217 transcript variant X11XR_001743181.1:n.N/AGenic Downstream Transcript Variant
RNF217 transcript variant X12XR_001743182.1:n.N/AGenic Downstream Transcript Variant
RNF217 transcript variant X13XR_001743183.1:n.N/AGenic Downstream Transcript Variant
RNF217 transcript variant X8XR_942309.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.902T=0.098
1000GenomesAmericanSub694C=0.990T=0.010
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=1.000T=0.000
1000GenomesGlobalStudy-wide5008C=0.973T=0.027
1000GenomesSouth AsianSub978C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=1.000T=0.000
The Genome Aggregation DatabaseAfricanSub8722C=0.928T=0.072
The Genome Aggregation DatabaseAmericanSub838C=0.990T=0.010
The Genome Aggregation DatabaseEast AsianSub1598C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18466C=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29926C=0.978T=0.021
The Genome Aggregation DatabaseOtherSub302C=0.990T=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.965T=0.034
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=1.000T=0.000
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs5718460.000668alcohol dependence21314694

eQTL of rs571846 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 rs571846 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 )
chr6125362629125362679E067-38885
chr6125362725125362872E067-38692
chr6125362910125363037E067-38527
chr6125363078125363636E067-37928
chr6125364226125364519E067-37045
chr6125367147125367933E067-33631
chr6125375746125375819E067-25745
chr6125376053125376133E067-25431
chr6125416484125416626E06714920
chr6125416729125417457E06715165
chr6125420284125420397E06718720
chr6125424019125424397E06722455
chr6125425525125426007E06723961
chr6125362629125362679E068-38885
chr6125362725125362872E068-38692
chr6125362910125363037E068-38527
chr6125363078125363636E068-37928
chr6125364226125364519E068-37045
chr6125371823125372214E068-29350
chr6125372856125372959E068-28605
chr6125380659125380763E068-20801
chr6125416484125416626E06814920
chr6125416729125417457E06815165
chr6125420082125420162E06818518
chr6125421462125421619E06819898
chr6125424019125424397E06822455
chr6125362629125362679E069-38885
chr6125362725125362872E069-38692
chr6125362910125363037E069-38527
chr6125363078125363636E069-37928
chr6125364226125364519E069-37045
chr6125375746125375819E069-25745
chr6125376053125376133E069-25431
chr6125416484125416626E06914920
chr6125416729125417457E06915165
chr6125420082125420162E06918518
chr6125420284125420397E06918720
chr6125424019125424397E06922455
chr6125425525125426007E06923961
chr6125420082125420162E07018518
chr6125420284125420397E07018720
chr6125362629125362679E071-38885
chr6125362725125362872E071-38692
chr6125362910125363037E071-38527
chr6125363078125363636E071-37928
chr6125364226125364519E071-37045
chr6125375746125375819E071-25745
chr6125376053125376133E071-25431
chr6125415686125416108E07114122
chr6125416484125416626E07114920
chr6125416729125417457E07115165
chr6125420082125420162E07118518
chr6125420284125420397E07118720
chr6125423336125423481E07121772
chr6125423695125423865E07122131
chr6125424019125424397E07122455
chr6125362629125362679E072-38885
chr6125362725125362872E072-38692
chr6125362910125363037E072-38527
chr6125363078125363636E072-37928
chr6125364226125364519E072-37045
chr6125367147125367933E072-33631
chr6125371823125372214E072-29350
chr6125375746125375819E072-25745
chr6125376053125376133E072-25431
chr6125415686125416108E07214122
chr6125416484125416626E07214920
chr6125416729125417457E07215165
chr6125420082125420162E07218518
chr6125420284125420397E07218720
chr6125425525125426007E07223961
chr6125362629125362679E073-38885
chr6125362725125362872E073-38692
chr6125363078125363636E073-37928
chr6125364226125364519E073-37045
chr6125375746125375819E073-25745
chr6125362910125363037E074-38527
chr6125363078125363636E074-37928
chr6125364226125364519E074-37045
chr6125371823125372214E074-29350
chr6125375746125375819E074-25745
chr6125376053125376133E074-25431
chr6125378822125378952E074-22612
chr6125416484125416626E07414920
chr6125416729125417457E07415165
chr6125420082125420162E07418518
chr6125420284125420397E07418720
chr6125421462125421619E07419898
chr6125421669125421734E07420105
chr6125424019125424397E07422455
chr6125425525125426007E07423961








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr6125420467125420649E06718903
chr6125420699125421307E06719135
chr6125420467125420649E06818903
chr6125420699125421307E06819135
chr6125420467125420649E06918903
chr6125420699125421307E06919135
chr6125420467125420649E07018903
chr6125420699125421307E07019135
chr6125420467125420649E07118903
chr6125420699125421307E07119135
chr6125420467125420649E07218903
chr6125420699125421307E07219135
chr6125420467125420649E07318903
chr6125420699125421307E07319135
chr6125420699125421307E07419135
chr6125435375125435691E07433811
chr6125420467125420649E08118903
chr6125420699125421307E08119135
chr6125420467125420649E08218903
chr6125420699125421307E08219135