rs35794819

Homo sapiens
C>G
DHX38 : Missense Variant
TXNL4B : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0019 (2323/119170,ExAC)
G=0017 (519/29976,GnomAD)
G=0014 (432/29118,TOPMED)
C==0016 (209/12996,GO-ESP)
G=0009 (47/5008,1000G)
G=0024 (93/3854,ALSPAC)
G=0024 (89/3708,TWINSUK)
chr16:72096204 (GRCh38.p7) (16q22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
121 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.72096204C>G
GRCh37.p13 chr 16NC_000016.9:g.72130103C>G
DHX38 RefSeqGeneNG_034207.1:g.7489C>G

Gene: TXNL4B, thioredoxin like 4B(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
TXNL4B transcript variant 3NM_001142318.1:c.N/AUpstream Transcript Variant
TXNL4B transcript variant 2NM_001142317.1:c.N/AN/A
TXNL4B transcript variant 4NM_001324354.1:c.N/AN/A
TXNL4B transcript variant 5NM_001324355.1:c.N/AN/A
TXNL4B transcript variant 1NM_017853.2:c.N/AN/A
TXNL4B transcript variant X1XM_017023377.1:c.N/AN/A

Gene: DHX38, DEAH-box helicase 38(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DHX38 transcriptNM_014003.3:c.47C>GT [ACT]> S [AGT]Coding Sequence Variant
pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16NP_054722.2:p.Thr...NP_054722.2:p.Thr16SerT [Thr]> S [Ser]Missense Variant
DHX38 transcript variant X3XM_005256269.1:c....XM_005256269.1:c.47C>GT [ACT]> S [AGT]Coding Sequence Variant
pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 isoform X2XP_005256326.1:p....XP_005256326.1:p.Thr16SerT [Thr]> S [Ser]Missense Variant
DHX38 transcript variant X2XM_011523484.1:c....XM_011523484.1:c.47C>GT [ACT]> S [AGT]Coding Sequence Variant
pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 isoform X1XP_011521786.1:p....XP_011521786.1:p.Thr16SerT [Thr]> S [Ser]Missense Variant
DHX38 transcript variant X1XM_011523485.1:c....XM_011523485.1:c.47C>GT [ACT]> S [AGT]Coding Sequence Variant
pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 isoform X1XP_011521787.1:p....XP_011521787.1:p.Thr16SerT [Thr]> S [Ser]Missense Variant
DHX38 transcript variant X4XM_017023913.1:c....XM_017023913.1:c.47C>GT [ACT]> S [AGT]Coding Sequence Variant
pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 isoform X2XP_016879402.1:p....XP_016879402.1:p.Thr16SerT [Thr]> S [Ser]Missense Variant
DHX38 transcript variant X5XR_429741.2:n.329C>GC>GNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.996G=0.004
1000GenomesAmericanSub694C=0.990G=0.010
1000GenomesEast AsianSub1008C=0.999G=0.001
1000GenomesEuropeSub1006C=0.981G=0.019
1000GenomesGlobalStudy-wide5008C=0.991G=0.009
1000GenomesSouth AsianSub978C=0.980G=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.976G=0.024
The Exome Aggregation ConsortiumAmericanSub21468C=0.994G=0.005
The Exome Aggregation ConsortiumAsianSub24754C=0.983G=0.016
The Exome Aggregation ConsortiumEuropeSub72052C=0.975G=0.024
The Exome Aggregation ConsortiumGlobalStudy-wide119170C=0.980G=0.019
The Exome Aggregation ConsortiumOtherSub896C=0.970G=0.030
The Genome Aggregation DatabaseAfricanSub8728C=0.996G=0.004
The Genome Aggregation DatabaseAmericanSub838C=1.000G=0.000
The Genome Aggregation DatabaseEast AsianSub1622C=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18486C=0.973G=0.026
The Genome Aggregation DatabaseGlobalStudy-wide29976C=0.982G=0.017
The Genome Aggregation DatabaseOtherSub302C=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.985G=0.014
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.976G=0.024
PMID Title Author Journal
23555315Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.Haiman CAPLoS Genet

P-Value

SNP ID p-value Traits Study
rs357948195.49E-06alcohol consumption23555315

eQTL of rs35794819 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 rs35794819 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 )
chr167210528072105358E067-24745
chr167210538672105582E067-24521
chr167210584272105892E067-24211
chr167210630572106400E067-23703
chr167210645972106512E067-23591
chr167210658472106711E067-23392
chr167210675172107212E067-22891
chr167210750772107616E067-22487
chr167210764672108188E067-21915
chr167210831772108367E067-21736
chr167210850472108558E067-21545
chr167212516872125404E067-4699
chr167212916972129239E067-864
chr167215870672159470E06728603
chr167215966072159885E06729557
chr167215993172160097E06729828
chr167216024472160527E06730141
chr167216056072160733E06730457
chr167210584272105892E068-24211
chr167210630572106400E068-23703
chr167210645972106512E068-23591
chr167210658472106711E068-23392
chr167210675172107212E068-22891
chr167210750772107616E068-22487
chr167212453372124638E068-5465
chr167212516872125404E068-4699
chr167212916972129239E068-864
chr167215858272158695E06828479
chr167215870672159470E06828603
chr167215966072159885E06829557
chr167215993172160097E06829828
chr167216024472160527E06830141
chr167216056072160733E06830457
chr167210319472103345E069-26758
chr167210337972103429E069-26674
chr167210347772103559E069-26544
chr167210528072105358E069-24745
chr167210538672105582E069-24521
chr167210584272105892E069-24211
chr167210630572106400E069-23703
chr167210645972106512E069-23591
chr167210658472106711E069-23392
chr167210764672108188E069-21915
chr167210831772108367E069-21736
chr167210850472108558E069-21545
chr167210863672108762E069-21341
chr167212516872125404E069-4699
chr167212916972129239E069-864
chr167215966072159885E06929557
chr167215993172160097E06929828
chr167216024472160527E06930141
chr167216056072160733E06930457
chr167212516872125404E070-4699
chr167213014272130182E07039
chr167213072372130777E070620
chr167215858272158695E07028479
chr167215870672159470E07028603
chr167215966072159885E07029557
chr167210114972101239E071-28864
chr167210319472103345E071-26758
chr167210337972103429E071-26674
chr167210347772103559E071-26544
chr167210528072105358E071-24745
chr167210538672105582E071-24521
chr167210584272105892E071-24211
chr167210630572106400E071-23703
chr167210645972106512E071-23591
chr167210850472108558E071-21545
chr167210863672108762E071-21341
chr167212516872125404E071-4699
chr167212916972129239E071-864
chr167215966072159885E07129557
chr167215993172160097E07129828
chr167216024472160527E07130141
chr167216056072160733E07130457
chr167210538672105582E072-24521
chr167210584272105892E072-24211
chr167210630572106400E072-23703
chr167210645972106512E072-23591
chr167210658472106711E072-23392
chr167210831772108367E072-21736
chr167212516872125404E072-4699
chr167212916972129239E072-864
chr167215858272158695E07228479
chr167215870672159470E07228603
chr167215966072159885E07229557
chr167215993172160097E07229828
chr167216024472160527E07230141
chr167216056072160733E07230457
chr167210675172107212E073-22891
chr167210750772107616E073-22487
chr167210764672108188E073-21915
chr167210831772108367E073-21736
chr167210850472108558E073-21545
chr167210863672108762E073-21341
chr167212516872125404E073-4699
chr167212916972129239E073-864
chr167215858272158695E07328479
chr167215870672159470E07328603
chr167210319472103345E074-26758
chr167210337972103429E074-26674
chr167210347772103559E074-26544
chr167210376372103897E074-26206
chr167210528072105358E074-24745
chr167210538672105582E074-24521
chr167210584272105892E074-24211
chr167210630572106400E074-23703
chr167210645972106512E074-23591
chr167210658472106711E074-23392
chr167210850472108558E074-21545
chr167210863672108762E074-21341
chr167212516872125404E074-4699
chr167212916972129239E074-864
chr167215966072159885E07429557
chr167215993172160097E07429828
chr167216024472160527E07430141
chr167216056072160733E07430457
chr167212916972129239E081-864
chr167215858272158695E08128479
chr167215870672159470E08128603
chr167215870672159470E08228603










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr167212638272128480E067-1623
chr167212638272128480E068-1623
chr167212638272128480E069-1623
chr167212638272128480E070-1623
chr167212638272128480E071-1623
chr167212638272128480E072-1623
chr167212638272128480E073-1623
chr167212638272128480E074-1623
chr167212638272128480E081-1623
chr167212638272128480E082-1623