rs4933618

Homo sapiens
C>T
RPP30 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0482 (14437/29942,GnomAD)
C==0447 (13043/29118,TOPMED)
C==0454 (2274/5008,1000G)
T=0326 (1255/3854,ALSPAC)
T=0320 (1188/3708,TWINSUK)
chr10:90892814 (GRCh38.p7) (10q23.31)
AD
GWASdb2
1   publication(s)
See rs on genome
23 Enhancers around
21 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.90892814C>T
GRCh37.p13 chr 10NC_000010.10:g.92652571C>T

Gene: RPP30, ribonuclease P/MRP subunit p30(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RPP30 transcript variant 1NM_001104546.1:c.N/AIntron Variant
RPP30 transcript variant 2NM_006413.4:c.N/AIntron Variant
RPP30 transcript variant X2XM_011539120.2:c.N/AIntron Variant
RPP30 transcript variant X3XM_011539121.2:c.N/AIntron Variant
RPP30 transcript variant X1XM_017015475.1:c.N/AIntron Variant
RPP30 transcript variant X4XM_017015476.1:c.N/AIntron Variant
RPP30 transcript variant X5XM_017015477.1:c.N/AIntron Variant
RPP30 transcript variant X6XM_017015478.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.085T=0.915
1000GenomesAmericanSub694C=0.570T=0.430
1000GenomesEast AsianSub1008C=0.578T=0.422
1000GenomesEuropeSub1006C=0.646T=0.354
1000GenomesGlobalStudy-wide5008C=0.454T=0.546
1000GenomesSouth AsianSub978C=0.550T=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.674T=0.326
The Genome Aggregation DatabaseAfricanSub8728C=0.172T=0.828
The Genome Aggregation DatabaseAmericanSub836C=0.570T=0.430
The Genome Aggregation DatabaseEast AsianSub1614C=0.549T=0.451
The Genome Aggregation DatabaseEuropeSub18464C=0.673T=0.326
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.517T=0.482
The Genome Aggregation DatabaseOtherSub300C=0.660T=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.447T=0.552
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.680T=0.320
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
rs49336180.000737alcohol consumption (maxi-drinks)24277619

eQTL of rs4933618 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 rs4933618 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 )
chr109263305792633097E067-19474
chr109263338892633438E067-19133
chr109263358692633643E067-18928
chr109263401892634073E067-18498
chr109268959492689696E06837023
chr109263305792633097E069-19474
chr109263338892633438E069-19133
chr109263358692633643E069-18928
chr109267104992672416E06918478
chr109263305792633097E070-19474
chr109263358692633643E070-18928
chr109269797692698102E07045405
chr109267104992672416E07118478
chr109268986692691674E07137295
chr109263305792633097E073-19474
chr109263338892633438E073-19133
chr109263358692633643E073-18928
chr109263305792633097E081-19474
chr109263338892633438E081-19133
chr109263358692633643E081-18928
chr109263338892633438E082-19133
chr109263358692633643E082-18928
chr109263401892634073E082-18498








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr109261595792618611E067-33960
chr109263077892632583E067-19988
chr109261595792618611E068-33960
chr109263077892632583E068-19988
chr109261595792618611E069-33960
chr109263077892632583E069-19988
chr109263077892632583E070-19988
chr109261595792618611E071-33960
chr109263077892632583E071-19988
chr109261595792618611E072-33960
chr109263077892632583E072-19988
chr109261595792618611E073-33960
chr109263077892632583E073-19988
chr109261595792618611E074-33960
chr109263077892632583E074-19988
chr109263077892632583E081-19988
chr109261475592614846E082-37725
chr109261555192615609E082-36962
chr109261574592615805E082-36766
chr109261595792618611E082-33960
chr109263077892632583E082-19988