rs12637730

Homo sapiens
C>T
RAB6B : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0131 (3940/29936,GnomAD)
T=0122 (3551/29118,TOPMED)
T=0207 (1037/5008,1000G)
T=0140 (541/3854,ALSPAC)
T=0141 (524/3708,TWINSUK)
chr3:133827453 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
126 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133827453C>T
GRCh37.p13 chr 3NC_000003.11:g.133546297C>T

Gene: RAB6B, RAB6B, member RAS oncogene family(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RAB6B transcriptNM_016577.3:c.N/A3 Prime UTR Variant
RAB6B transcript variant X1XM_011512893.2:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.976T=0.024
1000GenomesAmericanSub694C=0.730T=0.270
1000GenomesEast AsianSub1008C=0.613T=0.387
1000GenomesEuropeSub1006C=0.828T=0.172
1000GenomesGlobalStudy-wide5008C=0.793T=0.207
1000GenomesSouth AsianSub978C=0.740T=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.860T=0.140
The Genome Aggregation DatabaseAfricanSub8714C=0.955T=0.045
The Genome Aggregation DatabaseAmericanSub834C=0.660T=0.340
The Genome Aggregation DatabaseEast AsianSub1618C=0.602T=0.398
The Genome Aggregation DatabaseEuropeSub18470C=0.860T=0.139
The Genome Aggregation DatabaseGlobalStudy-wide29936C=0.868T=0.131
The Genome Aggregation DatabaseOtherSub300C=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.878T=0.122
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.859T=0.141
PMID Title Author Journal
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs126377307.32E-09alcohol consumption21665994

eQTL of rs12637730 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 rs12637730 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 )
chr3133562885133562960E06716588
chr3133573215133573347E06726918
chr3133573885133574171E06727588
chr3133574725133574824E06728428
chr3133575303133575377E06729006
chr3133584047133584242E06737750
chr3133587242133587401E06740945
chr3133587644133588157E06741347
chr3133588170133588246E06741873
chr3133590458133590539E06744161
chr3133591508133591609E06745211
chr3133572273133572376E06825976
chr3133572430133572579E06826133
chr3133572588133572638E06826291
chr3133573215133573347E06826918
chr3133573885133574171E06827588
chr3133574725133574824E06828428
chr3133575303133575377E06829006
chr3133584047133584242E06837750
chr3133587242133587401E06840945
chr3133587644133588157E06841347
chr3133588170133588246E06841873
chr3133590458133590539E06844161
chr3133591508133591609E06845211
chr3133540603133541021E069-5276
chr3133541191133541245E069-5052
chr3133572273133572376E06925976
chr3133572430133572579E06926133
chr3133572588133572638E06926291
chr3133573215133573347E06926918
chr3133573885133574171E06927588
chr3133574725133574824E06928428
chr3133575303133575377E06929006
chr3133584047133584242E06937750
chr3133587242133587401E06940945
chr3133587644133588157E06941347
chr3133588170133588246E06941873
chr3133590458133590539E06944161
chr3133591508133591609E06945211
chr3133547093133547193E070796
chr3133547516133547745E0701219
chr3133547924133548172E0701627
chr3133572273133572376E07025976
chr3133572430133572579E07026133
chr3133572588133572638E07026291
chr3133573215133573347E07026918
chr3133573885133574171E07027588
chr3133574725133574824E07028428
chr3133575303133575377E07029006
chr3133587242133587401E07040945
chr3133587644133588157E07041347
chr3133540337133540417E071-5880
chr3133572273133572376E07125976
chr3133572430133572579E07126133
chr3133572588133572638E07126291
chr3133573215133573347E07126918
chr3133573885133574171E07127588
chr3133574725133574824E07128428
chr3133582903133583150E07136606
chr3133584047133584242E07137750
chr3133587242133587401E07140945
chr3133587644133588157E07141347
chr3133588170133588246E07141873
chr3133573215133573347E07226918
chr3133573885133574171E07227588
chr3133574725133574824E07228428
chr3133582298133582380E07236001
chr3133584047133584242E07237750
chr3133587242133587401E07240945
chr3133587644133588157E07241347
chr3133588170133588246E07241873
chr3133590458133590539E07244161
chr3133591508133591609E07245211
chr3133540006133540074E073-6223
chr3133540337133540417E073-5880
chr3133540603133541021E073-5276
chr3133541035133541081E073-5216
chr3133541191133541245E073-5052
chr3133572273133572376E07325976
chr3133573215133573347E07326918
chr3133573885133574171E07327588
chr3133574725133574824E07328428
chr3133575303133575377E07329006
chr3133584047133584242E07337750
chr3133587242133587401E07340945
chr3133587644133588157E07341347
chr3133588170133588246E07341873
chr3133590458133590539E07344161
chr3133591508133591609E07345211
chr3133540006133540074E074-6223
chr3133540337133540417E074-5880
chr3133540603133541021E074-5276
chr3133541035133541081E074-5216
chr3133541191133541245E074-5052
chr3133541431133541497E074-4800
chr3133541623133541762E074-4535
chr3133541910133541964E074-4333
chr3133572430133572579E07426133
chr3133572588133572638E07426291
chr3133573215133573347E07426918
chr3133573885133574171E07427588
chr3133574725133574824E07428428
chr3133587242133587401E07440945
chr3133587644133588157E07441347
chr3133588170133588246E07441873
chr3133526132133526214E081-20083
chr3133572273133572376E08125976
chr3133573215133573347E08126918
chr3133573885133574171E08127588
chr3133574725133574824E08128428
chr3133587242133587401E08140945
chr3133588170133588246E08141873
chr3133591508133591609E08145211
chr3133547516133547745E0821219
chr3133547924133548172E0821627
chr3133548284133548391E0821987
chr3133572273133572376E08225976
chr3133572430133572579E08226133
chr3133572588133572638E08226291
chr3133573215133573347E08226918
chr3133573885133574171E08227588
chr3133574725133574824E08228428
chr3133575303133575377E08229006
chr3133587242133587401E08240945
chr3133587644133588157E08241347
chr3133588170133588246E08241873










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133524082133525550E067-20747
chr3133525588133525634E067-20663
chr3133524082133525550E068-20747
chr3133525588133525634E068-20663
chr3133524082133525550E069-20747
chr3133524082133525550E070-20747
chr3133525588133525634E070-20663
chr3133524082133525550E071-20747
chr3133525588133525634E071-20663
chr3133524082133525550E072-20747
chr3133525588133525634E072-20663
chr3133524082133525550E073-20747
chr3133525588133525634E073-20663
chr3133524082133525550E074-20747
chr3133525588133525634E074-20663
chr3133524082133525550E081-20747
chr3133525588133525634E081-20663
chr3133524082133525550E082-20747
chr3133525588133525634E082-20663