rs4145338

Homo sapiens
T>C
RNF175 : Intron Variant
LOC105377499 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0103 (3090/29964,GnomAD)
C=0113 (3303/29118,TOPMED)
C=0201 (1005/5008,1000G)
C=0045 (172/3854,ALSPAC)
C=0042 (154/3708,TWINSUK)
chr4:153733171 (GRCh38.p7) (4q31.3)
AD
GWASdb2
1   publication(s)
See rs on genome
7 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.153733171T>C
GRCh37.p13 chr 4NC_000004.11:g.154654323T>C
RNF175 RefSeqGeneNG_016386.1:g.32065A>G

Gene: RNF175, ring finger protein 175(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RNF175 transcriptNM_173662.2:c.N/AIntron Variant
RNF175 transcript variant X2XM_005262938.3:c.N/AIntron Variant
RNF175 transcript variant X8XM_005262939.3:c.N/AIntron Variant
RNF175 transcript variant X1XM_011531879.2:c.N/AIntron Variant
RNF175 transcript variant X3XM_011531881.2:c.N/AIntron Variant
RNF175 transcript variant X4XM_011531882.2:c.N/AIntron Variant
RNF175 transcript variant X5XM_011531883.2:c.N/AIntron Variant
RNF175 transcript variant X7XM_017008047.1:c.N/AIntron Variant
RNF175 transcript variant X6XM_005262940.4:c.N/AGenic Upstream Transcript Variant

Gene: LOC105377499, uncharacterized LOC105377499(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105377499 transcript variant X1XR_001741890.1:n.N/AIntron Variant
LOC105377499 transcript variant X2XR_001741891.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.782C=0.218
1000GenomesAmericanSub694T=0.920C=0.080
1000GenomesEast AsianSub1008T=0.559C=0.441
1000GenomesEuropeSub1006T=0.964C=0.036
1000GenomesGlobalStudy-wide5008T=0.799C=0.201
1000GenomesSouth AsianSub978T=0.820C=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.955C=0.045
The Genome Aggregation DatabaseAfricanSub8722T=0.806C=0.194
The Genome Aggregation DatabaseAmericanSub838T=0.910C=0.090
The Genome Aggregation DatabaseEast AsianSub1614T=0.574C=0.426
The Genome Aggregation DatabaseEuropeSub18488T=0.966C=0.033
The Genome Aggregation DatabaseGlobalStudy-wide29964T=0.896C=0.103
The Genome Aggregation DatabaseOtherSub302T=0.970C=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.886C=0.113
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.958C=0.042
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
rs41453387.67E-05alcohol dependence21314694

eQTL of rs4145338 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 rs4145338 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 )
chr4154671291154671694E06816968
chr4154652449154652724E070-1599
chr4154652757154653193E070-1130
chr4154652449154652724E071-1599
chr4154679352154679603E08125029
chr4154679608154679777E08125285
chr4154681896154682019E08127573




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4154605010154606530E067-47793
chr4154679975154680310E06725652
chr4154680346154681592E06726023
chr4154681610154681859E06727287
chr4154605010154606530E068-47793
chr4154679975154680310E06825652
chr4154680346154681592E06826023
chr4154681610154681859E06827287
chr4154605010154606530E069-47793
chr4154679975154680310E06925652
chr4154680346154681592E06926023
chr4154681610154681859E06927287
chr4154680346154681592E07026023
chr4154607237154607290E071-47033
chr4154679975154680310E07125652
chr4154680346154681592E07126023
chr4154681610154681859E07127287
chr4154605010154606530E072-47793
chr4154679975154680310E07225652
chr4154680346154681592E07226023
chr4154681610154681859E07227287
chr4154605010154606530E073-47793
chr4154679975154680310E07325652
chr4154680346154681592E07326023
chr4154681610154681859E07327287
chr4154605010154606530E074-47793
chr4154680346154681592E07426023
chr4154679975154680310E08225652
chr4154680346154681592E08226023