rs11848799

Homo sapiens
T>C
KLHL28 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0106 (3193/29944,GnomAD)
C=0123 (3601/29118,TOPMED)
C=0130 (653/5008,1000G)
C=0048 (185/3854,ALSPAC)
C=0048 (178/3708,TWINSUK)
chr14:44946394 (GRCh38.p7) (14q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
92 Enhancers around
137 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.44946394T>C
GRCh37.p13 chr 14NC_000014.8:g.45415597T>C

Gene: KLHL28, kelch like family member 28(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KLHL28 transcript variant 1NM_001308112.1:c.N/AIntron Variant
KLHL28 transcript variant 2NM_017658.4:c.N/AIntron Variant
KLHL28 transcript variant X1XM_005267770.3:c.N/AIntron Variant
KLHL28 transcript variant X5XM_006720174.3:c.N/AIntron Variant
KLHL28 transcript variant X2XM_011536847.2:c.N/AIntron Variant
KLHL28 transcript variant X3XM_011536849.2:c.N/AIntron Variant
KLHL28 transcript variant X6XM_017021378.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.753C=0.247
1000GenomesAmericanSub694T=0.930C=0.070
1000GenomesEast AsianSub1008T=0.886C=0.114
1000GenomesEuropeSub1006T=0.939C=0.061
1000GenomesGlobalStudy-wide5008T=0.870C=0.130
1000GenomesSouth AsianSub978T=0.890C=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.952C=0.048
The Genome Aggregation DatabaseAfricanSub8706T=0.801C=0.199
The Genome Aggregation DatabaseAmericanSub830T=0.930C=0.070
The Genome Aggregation DatabaseEast AsianSub1618T=0.894C=0.106
The Genome Aggregation DatabaseEuropeSub18488T=0.935C=0.064
The Genome Aggregation DatabaseGlobalStudy-wide29944T=0.893C=0.106
The Genome Aggregation DatabaseOtherSub302T=0.900C=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.876C=0.123
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.952C=0.048
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
rs118487990.000162alcohol dependence21314694

eQTL of rs11848799 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 rs11848799 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 )
chr144536837945368467E067-47130
chr144536857345368623E067-46974
chr144540800645408056E067-7541
chr144542746045427575E06711863
chr144542786345427972E06712266
chr144544893145449670E06733334
chr144545167145451768E06736074
chr144545190445452057E06736307
chr144545226145452411E06736664
chr144545261045452660E06737013
chr144545910945459438E06743512
chr144545946745459655E06743870
chr144545974945459979E06744152
chr144546422945464324E06748632
chr144542866545428739E06813068
chr144543907445439194E06823477
chr144544100845441081E06825411
chr144544111345441250E06825516
chr144544855145448747E06832954
chr144544879145448886E06833194
chr144544893145449670E06833334
chr144545167145451768E06836074
chr144545190445452057E06836307
chr144545226145452411E06836664
chr144545946745459655E06843870
chr144545974945459979E06844152
chr144546007245460112E06844475
chr144546422945464324E06848632
chr144536837945368467E069-47130
chr144538399645384483E069-31114
chr144543792545438055E06922328
chr144543811445438221E06922517
chr144545190445452057E06936307
chr144545226145452411E06936664
chr144537092345371233E070-44364
chr144537129345371347E070-44250
chr144536857345368623E071-46974
chr144538399645384483E071-31114
chr144543792545438055E07122328
chr144543811445438221E07122517
chr144543907445439194E07123477
chr144545783545458396E07142238
chr144545869545458745E07143098
chr144545878445458975E07143187
chr144545946745459655E07143870
chr144545974945459979E07144152
chr144546007245460112E07144475
chr144546422945464324E07148632
chr144538399645384483E072-31114
chr144543907445439194E07223477
chr144544855145448747E07232954
chr144544879145448886E07233194
chr144544893145449670E07233334
chr144545167145451768E07236074
chr144545190445452057E07236307
chr144545910945459438E07243512
chr144545946745459655E07243870
chr144545974945459979E07244152
chr144546422945464324E07248632
chr144545190445452057E07336307
chr144545226145452411E07336664
chr144545783545458396E07342238
chr144536837945368467E074-47130
chr144538399645384483E074-31114
chr144541125745412128E074-3469
chr144542839545428491E07412798
chr144542866545428739E07413068
chr144543792545438055E07422328
chr144543811445438221E07422517
chr144544476845444810E07429171
chr144544553145445610E07429934
chr144544879145448886E07433194
chr144544893145449670E07433334
chr144545910945459438E07443512
chr144545946745459655E07443870
chr144545974945459979E07444152
chr144546007245460112E07444475
chr144546422945464324E07448632
chr144541423645414415E081-1182
chr144542746045427575E08111863
chr144542786345427972E08112266
chr144542866545428739E08113068
chr144543792545438055E08122328
chr144543811445438221E08122517
chr144543907445439194E08123477
chr144537045545370495E082-45102
chr144537092345371233E082-44364
chr144542839545428491E08212798
chr144542866545428739E08213068
chr144544879145448886E08233194
chr144544893145449670E08233334
chr144545226145452411E08236664










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr144538082845381480E067-34117
chr144538150145381697E067-33900
chr144538179045381945E067-33652
chr144538199545382091E067-33506
chr144542970945429805E06714112
chr144542989045429989E06714293
chr144543001845432650E06714421
chr144543390745434007E06718310
chr144543401745434105E06718420
chr144543419845434242E06718601
chr144543424445434359E06718647
chr144543442045434470E06718823
chr144543481445434877E06719217
chr144543511345435227E06719516
chr144543718245437383E06721585
chr144546492445465401E06749327
chr144538082845381480E068-34117
chr144538150145381697E068-33900
chr144538179045381945E068-33652
chr144542970945429805E06814112
chr144542989045429989E06814293
chr144543001845432650E06814421
chr144543390745434007E06818310
chr144543401745434105E06818420
chr144543419845434242E06818601
chr144543424445434359E06818647
chr144543442045434470E06818823
chr144543481445434877E06819217
chr144543511345435227E06819516
chr144543718245437383E06821585
chr144546492445465401E06849327
chr144538082845381480E069-34117
chr144538150145381697E069-33900
chr144538179045381945E069-33652
chr144538199545382091E069-33506
chr144542970945429805E06914112
chr144542989045429989E06914293
chr144543001845432650E06914421
chr144543390745434007E06918310
chr144543401745434105E06918420
chr144543419845434242E06918601
chr144543424445434359E06918647
chr144543442045434470E06918823
chr144543481445434877E06919217
chr144543511345435227E06919516
chr144543718245437383E06921585
chr144546492445465401E06949327
chr144538082845381480E070-34117
chr144538150145381697E070-33900
chr144538179045381945E070-33652
chr144542970945429805E07014112
chr144542989045429989E07014293
chr144543001845432650E07014421
chr144543390745434007E07018310
chr144543401745434105E07018420
chr144543419845434242E07018601
chr144543424445434359E07018647
chr144543442045434470E07018823
chr144543481445434877E07019217
chr144543511345435227E07019516
chr144543718245437383E07021585
chr144538082845381480E071-34117
chr144538150145381697E071-33900
chr144542970945429805E07114112
chr144542989045429989E07114293
chr144543001845432650E07114421
chr144543390745434007E07118310
chr144543401745434105E07118420
chr144543419845434242E07118601
chr144543424445434359E07118647
chr144543442045434470E07118823
chr144543481445434877E07119217
chr144543511345435227E07119516
chr144543718245437383E07121585
chr144546492445465401E07149327
chr144538082845381480E072-34117
chr144538150145381697E072-33900
chr144538179045381945E072-33652
chr144538199545382091E072-33506
chr144542970945429805E07214112
chr144542989045429989E07214293
chr144543001845432650E07214421
chr144543390745434007E07218310
chr144543401745434105E07218420
chr144543419845434242E07218601
chr144543424445434359E07218647
chr144543442045434470E07218823
chr144543481445434877E07219217
chr144543511345435227E07219516
chr144543718245437383E07221585
chr144546492445465401E07249327
chr144538082845381480E073-34117
chr144538150145381697E073-33900
chr144538179045381945E073-33652
chr144542970945429805E07314112
chr144542989045429989E07314293
chr144543001845432650E07314421
chr144543390745434007E07318310
chr144543401745434105E07318420
chr144543419845434242E07318601
chr144543424445434359E07318647
chr144543442045434470E07318823
chr144543481445434877E07319217
chr144538082845381480E074-34117
chr144538150145381697E074-33900
chr144538179045381945E074-33652
chr144538199545382091E074-33506
chr144542970945429805E07414112
chr144543001845432650E07414421
chr144543390745434007E07418310
chr144543401745434105E07418420
chr144543419845434242E07418601
chr144543424445434359E07418647
chr144543442045434470E07418823
chr144543481445434877E07419217
chr144543511345435227E07419516
chr144546492445465401E07449327
chr144542970945429805E08114112
chr144542989045429989E08114293
chr144543001845432650E08114421
chr144543390745434007E08118310
chr144543401745434105E08118420
chr144543419845434242E08118601
chr144543424445434359E08118647
chr144543442045434470E08118823
chr144543481445434877E08119217
chr144542970945429805E08214112
chr144542989045429989E08214293
chr144543001845432650E08214421
chr144543390745434007E08218310
chr144543401745434105E08218420
chr144543419845434242E08218601
chr144543424445434359E08218647
chr144543442045434470E08218823
chr144543481445434877E08219217
chr144543511345435227E08219516
chr144543718245437383E08221585