rs2042423

Homo sapiens
C>T
HYDIN : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0349 (10434/29900,GnomAD)
T=0347 (10124/29118,TOPMED)
T=0414 (2071/5008,1000G)
T=0318 (1226/3854,ALSPAC)
T=0318 (1179/3708,TWINSUK)
chr16:71201086 (GRCh38.p7) (16q22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
74 Enhancers around
23 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.71201086C>T
GRCh37.p13 chr 16NC_000016.9:g.71234989C>T
HYDIN RefSeqGeneNG_033116.2:g.34637G>A

Gene: HYDIN, HYDIN, axonemal central pair apparatus protein(minus strand)

Molecule type Change Amino acid[Codon] SO Term
HYDIN transcript variant 3NM_001198542.1:c.N/AIntron Variant
HYDIN transcript variant 4NM_001198543.1:c.N/AIntron Variant
HYDIN transcript variant 1NM_001270974.2:c.N/AIntron Variant
HYDIN transcript variant 2NM_017558.4:c.N/AIntron Variant
HYDIN transcript variant X6XM_006721206.2:c.N/AIntron Variant
HYDIN transcript variant X1XM_011523146.2:c.N/AIntron Variant
HYDIN transcript variant X2XM_011523147.1:c.N/AIntron Variant
HYDIN transcript variant X4XM_011523148.1:c.N/AIntron Variant
HYDIN transcript variant X5XM_011523151.1:c.N/AIntron Variant
HYDIN transcript variant X3XM_017023346.1:c.N/AIntron Variant
HYDIN transcript variant X9XM_011523152.1:c.N/AGenic Upstream Transcript Variant
HYDIN transcript variant X10XM_011523155.2:c.N/AGenic Upstream Transcript Variant
HYDIN transcript variant X7XM_017023347.1:c.N/AGenic Upstream Transcript Variant
HYDIN transcript variant X8XM_017023348.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.628T=0.372
1000GenomesAmericanSub694C=0.530T=0.470
1000GenomesEast AsianSub1008C=0.420T=0.580
1000GenomesEuropeSub1006C=0.716T=0.284
1000GenomesGlobalStudy-wide5008C=0.586T=0.414
1000GenomesSouth AsianSub978C=0.610T=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.682T=0.318
The Genome Aggregation DatabaseAfricanSub8694C=0.640T=0.360
The Genome Aggregation DatabaseAmericanSub836C=0.450T=0.550
The Genome Aggregation DatabaseEast AsianSub1616C=0.399T=0.601
The Genome Aggregation DatabaseEuropeSub18452C=0.687T=0.312
The Genome Aggregation DatabaseGlobalStudy-wide29900C=0.651T=0.349
The Genome Aggregation DatabaseOtherSub302C=0.650T=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.652T=0.347
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.682T=0.318
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
rs20424230.000884alcohol dependence21314694

eQTL of rs2042423 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 rs2042423 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 )
chr167118657171187779E067-47210
chr167124858771248641E06713598
chr167124875171248875E06713762
chr167124887971248985E06713890
chr167118657171187779E068-47210
chr167118781471188024E068-46965
chr167118657171187779E069-47210
chr167123950471239588E0694515
chr167118781471188024E070-46965
chr167120102971201456E070-33533
chr167120171771201789E070-33200
chr167120185171201926E070-33063
chr167120233271202372E070-32617
chr167120246071202562E070-32427
chr167120676571207014E070-27975
chr167120705471207194E070-27795
chr167120751071207550E070-27439
chr167120756771207617E070-27372
chr167120771971207771E070-27218
chr167122647271226611E070-8378
chr167122666571226715E070-8274
chr167122713471227196E070-7793
chr167123950471239588E0704515
chr167124845171248501E07013462
chr167124858771248641E07013598
chr167124875171248875E07013762
chr167124887971248985E07013890
chr167124900271249138E07014013
chr167124957071249620E07014581
chr167124981571249894E07014826
chr167125041371250467E07015424
chr167125076471250934E07015775
chr167125118371251233E07016194
chr167125146071251760E07016471
chr167125203671252639E07017047
chr167125362771253777E07018638
chr167125383571253885E07018846
chr167118657171187779E071-47210
chr167118781471188024E071-46965
chr167118804171188121E071-46868
chr167118840571188481E071-46508
chr167118848571188583E071-46406
chr167118859771188755E071-46234
chr167118877171188975E071-46014
chr167118900171189041E071-45948
chr167118906171189153E071-45836
chr167118919371189345E071-45644
chr167123950471239588E0714515
chr167125146071251760E07116471
chr167125203671252639E07117047
chr167125267671252781E07117687
chr167125282471252932E07117835
chr167125301871253152E07118029
chr167118657171187779E072-47210
chr167118657171187779E074-47210
chr167125076471250934E08115775
chr167125118371251233E08116194
chr167125146071251760E08116471
chr167125203671252639E08117047
chr167125267671252781E08117687
chr167125282471252932E08117835
chr167125301871253152E08118029
chr167125383571253885E08118846
chr167118657171187779E082-47210
chr167118781471188024E082-46965
chr167125076471250934E08215775
chr167125118371251233E08216194
chr167125146071251760E08216471
chr167125203671252639E08217047
chr167125267671252781E08217687
chr167125282471252932E08217835
chr167125301871253152E08218029
chr167125362771253777E08218638
chr167125383571253885E08218846









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr167126415471264882E06729165
chr167126490371265031E06729914
chr167126388971263948E06828900
chr167126415471264882E06829165
chr167126490371265031E06829914
chr167126415471264882E06929165
chr167126490371265031E06929914
chr167126388971263948E07028900
chr167126415471264882E07029165
chr167126490371265031E07029914
chr167126388971263948E07128900
chr167126415471264882E07129165
chr167126490371265031E07129914
chr167126415471264882E07229165
chr167126490371265031E07229914
chr167126415471264882E07329165
chr167126490371265031E07329914
chr167126415471264882E07429165
chr167126490371265031E07429914
chr167126388971263948E08128900
chr167126415471264882E08129165
chr167126415471264882E08229165
chr167126490371265031E08229914