rs4256430

Homo sapiens
G>A
FAM65B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0410 (12148/29610,GnomAD)
A=0429 (12503/29118,TOPMED)
A=0406 (2031/5008,1000G)
A=0458 (1766/3854,ALSPAC)
A=0441 (1637/3708,TWINSUK)
chr6:24862847 (GRCh38.p7) (6p22.3)
AD
GWASCatalog
1   publication(s)
See rs on genome
182 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.24862847G>A
GRCh37.p13 chr 6NC_000006.11:g.24863075G>A

Gene: FAM65B, family with sequence similarity 65 member B(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FAM65B transcript variant 3NM_001286445.1:c.N/AIntron Variant
FAM65B transcript variant 4NM_001286446.1:c.N/AIntron Variant
RIPOR2 transcript variant 5NM_001286447.1:c.N/AIntron Variant
FAM65B transcript variant 1NM_014722.3:c.N/AIntron Variant
RIPOR2 transcript variant 2NM_015864.3:c.N/AIntron Variant
RIPOR2 transcript variant X1XM_006715275.2:c.N/AIntron Variant
FAM65B transcript variant X3XM_006715277.1:c.N/AIntron Variant
RIPOR2 transcript variant X3XM_006715279.2:c.N/AIntron Variant
RIPOR2 transcript variant X9XM_006715281.3:c.N/AIntron Variant
RIPOR2 transcript variant X2XM_011515007.1:c.N/AIntron Variant
RIPOR2 transcript variant X4XM_011515008.2:c.N/AIntron Variant
RIPOR2 transcript variant X6XM_011515009.1:c.N/AIntron Variant
FAM65B transcript variant X7XM_011515010.2:c.N/AIntron Variant
RIPOR2 transcript variant X13XM_011515012.1:c.N/AIntron Variant
RIPOR2 transcript variant X5XM_017011523.1:c.N/AIntron Variant
RIPOR2 transcript variant X7XM_017011524.1:c.N/AIntron Variant
RIPOR2 transcript variant X10XM_017011525.1:c.N/AIntron Variant
RIPOR2 transcript variant X11XM_017011526.1:c.N/AIntron Variant
RIPOR2 transcript variant X12XM_017011527.1:c.N/AIntron Variant
RIPOR2 transcript variant X8XR_001743760.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.557A=0.443
1000GenomesAmericanSub694G=0.590A=0.410
1000GenomesEast AsianSub1008G=0.663A=0.337
1000GenomesEuropeSub1006G=0.575A=0.425
1000GenomesGlobalStudy-wide5008G=0.594A=0.406
1000GenomesSouth AsianSub978G=0.600A=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.542A=0.458
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.570A=0.429
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.559A=0.441
PMID Title Author Journal
22554406Family-based genome-wide association study of frontal theta oscillations identifies potassium channel gene KCNJ6.Kang SJGenes Brain Behav

P-Value

SNP ID p-value Traits Study
rs42564308E-06alcohol dependence22554406

eQTL of rs4256430 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 rs4256430 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 )
chr62483160524831657E067-31418
chr62483170824831778E067-31297
chr62483229024832869E067-30206
chr62485793224857972E067-5103
chr62485801924858104E067-4971
chr62485817224858251E067-4824
chr62483229024832869E068-30206
chr62483383624834572E068-28503
chr62483486524834915E068-28160
chr62483505024835134E068-27941
chr62483526424835318E068-27757
chr62483536324835879E068-27196
chr62483927624839558E068-23517
chr62483977024839820E068-23255
chr62484391924844114E068-18961
chr62484441624844469E068-18606
chr62484745124847605E068-15470
chr62484770324847921E068-15154
chr62484840924848497E068-14578
chr62484883424848915E068-14160
chr62485573924855875E068-7200
chr62485590124856003E068-7072
chr62485610924856672E068-6403
chr62485700424857154E068-5921
chr62485722324857513E068-5562
chr62485756524857730E068-5345
chr62485793224857972E068-5103
chr62485801924858104E068-4971
chr62485817224858251E068-4824
chr62485830124858952E068-4123
chr62485895824859016E068-4059
chr62485904724859135E068-3940
chr62486007824860266E068-2809
chr62488328524883335E06820210
chr62488347424883649E06820399
chr62488381024884150E06820735
chr62488785224888124E06824777
chr62488855624888609E06825481
chr62488878524888835E06825710
chr62488919624889274E06826121
chr62488932324889473E06826248
chr62489996824900522E06836893
chr62490584724906005E06842772
chr62490627924906354E06843204
chr62490639924906464E06843324
chr62483229024832869E069-30206
chr62483383624834572E069-28503
chr62484770324847921E069-15154
chr62484840924848497E069-14578
chr62484883424848915E069-14160
chr62485573924855875E069-7200
chr62485590124856003E069-7072
chr62485610924856672E069-6403
chr62485700424857154E069-5921
chr62485722324857513E069-5562
chr62488686124886911E06923786
chr62489952124899653E06936446
chr62489968424899891E06936609
chr62489996824900522E06936893
chr62483536324835879E070-27196
chr62483626124836709E070-26366
chr62483684124836885E070-26190
chr62483696224837025E070-26050
chr62488785224888124E07024777
chr62488855624888609E07025481
chr62488878524888835E07025710
chr62488919624889274E07026121
chr62488932324889473E07026248
chr62489048524890555E07027410
chr62489077624890988E07027701
chr62489112724891179E07028052
chr62489135824891539E07028283
chr62489181224892095E07028737
chr62489252624892745E07029451
chr62489278324892972E07029708
chr62489746224897710E07034387
chr62489890524899074E07035830
chr62490130524901418E07038230
chr62490153524901819E07038460
chr62490217524902229E07039100
chr62490225324902376E07039178
chr62490304724903333E07039972
chr62490665624906719E07043581
chr62483383624834572E071-28503
chr62484441624844469E071-18606
chr62484745124847605E071-15470
chr62484770324847921E071-15154
chr62484840924848497E071-14578
chr62484883424848915E071-14160
chr62485610924856672E071-6403
chr62485700424857154E071-5921
chr62485722324857513E071-5562
chr62485817224858251E071-4824
chr62485830124858952E071-4123
chr62485895824859016E071-4059
chr62485904724859135E071-3940
chr62485929324859446E071-3629
chr62485951924859636E071-3439
chr62485970424859790E071-3285
chr62486007824860266E071-2809
chr62489952124899653E07136446
chr62489968424899891E07136609
chr62489996824900522E07136893
chr62490772724909259E07144652
chr62483229024832869E072-30206
chr62483383624834572E072-28503
chr62483486524834915E072-28160
chr62484048224840758E072-22317
chr62484097624841046E072-22029
chr62484745124847605E072-15470
chr62484770324847921E072-15154
chr62484840924848497E072-14578
chr62484883424848915E072-14160
chr62485573924855875E072-7200
chr62485590124856003E072-7072
chr62485610924856672E072-6403
chr62485700424857154E072-5921
chr62485722324857513E072-5562
chr62485756524857730E072-5345
chr62485793224857972E072-5103
chr62485801924858104E072-4971
chr62485817224858251E072-4824
chr62485830124858952E072-4123
chr62485895824859016E072-4059
chr62485904724859135E072-3940
chr62485929324859446E072-3629
chr62485951924859636E072-3439
chr62485970424859790E072-3285
chr62483160524831657E073-31418
chr62483170824831778E073-31297
chr62483205524832126E073-30949
chr62485590124856003E073-7072
chr62485610924856672E073-6403
chr62485700424857154E073-5921
chr62485722324857513E073-5562
chr62485756524857730E073-5345
chr62485793224857972E073-5103
chr62485801924858104E073-4971
chr62485817224858251E073-4824
chr62485830124858952E073-4123
chr62489996824900522E07336893
chr62490627924906354E07343204
chr62490761524907687E07344540
chr62490772724909259E07344652
chr62483205524832126E074-30949
chr62483229024832869E074-30206
chr62483383624834572E074-28503
chr62483486524834915E074-28160
chr62483505024835134E074-27941
chr62483526424835318E074-27757
chr62483536324835879E074-27196
chr62483846224838592E074-24483
chr62484745124847605E074-15470
chr62484770324847921E074-15154
chr62484883424848915E074-14160
chr62485817224858251E074-4824
chr62485904724859135E074-3940
chr62489996824900522E07436893
chr62490772724909259E07444652
chr62484391924844114E081-18961
chr62484441624844469E081-18606
chr62485590124856003E081-7072
chr62485610924856672E081-6403
chr62485700424857154E081-5921
chr62485722324857513E081-5562
chr62485756524857730E081-5345
chr62489736924897444E08134294
chr62489746224897710E08134387
chr62489890524899074E08135830
chr62489952124899653E08136446
chr62489968424899891E08136609
chr62489996824900522E08136893
chr62490217524902229E08139100
chr62490225324902376E08139178
chr62490772724909259E08144652
chr62483536324835879E082-27196
chr62485722324857513E082-5562
chr62485756524857730E082-5345
chr62489736924897444E08234294
chr62489746224897710E08234387
chr62489952124899653E08236446
chr62489968424899891E08236609










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr62490950724911982E06746432
chr62490950724911982E06846432
chr62490950724911982E06946432
chr62490950724911982E07046432
chr62490950724911982E07146432
chr62490950724911982E07246432
chr62490950724911982E07346432
chr62490950724911982E07446432
chr62490950724911982E08146432
chr62490950724911982E08246432