rs6793673

Homo sapiens
C>T
RAB6B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0140 (4197/29918,GnomAD)
T=0147 (4286/29118,TOPMED)
T=0111 (556/5008,1000G)
T=0156 (600/3854,ALSPAC)
T=0165 (611/3708,TWINSUK)
chr3:133834428 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
135 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133834428C>T
GRCh37.p13 chr 3NC_000003.11:g.133553272C>T

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

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.814T=0.186
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.960T=0.040
1000GenomesEuropeSub1006C=0.881T=0.119
1000GenomesGlobalStudy-wide5008C=0.889T=0.111
1000GenomesSouth AsianSub978C=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.844T=0.156
The Genome Aggregation DatabaseAfricanSub8716C=0.833T=0.167
The Genome Aggregation DatabaseAmericanSub838C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1622C=0.956T=0.044
The Genome Aggregation DatabaseEuropeSub18440C=0.862T=0.137
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.859T=0.140
The Genome Aggregation DatabaseOtherSub302C=0.810T=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.852T=0.147
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.835T=0.165
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
rs67936738.61E-21alcohol consumption21665994

eQTL of rs6793673 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 rs6793673 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 )
chr3133562885133562960E0679613
chr3133573215133573347E06719943
chr3133573885133574171E06720613
chr3133574725133574824E06721453
chr3133575303133575377E06722031
chr3133584047133584242E06730775
chr3133587242133587401E06733970
chr3133587644133588157E06734372
chr3133588170133588246E06734898
chr3133590458133590539E06737186
chr3133591508133591609E06738236
chr3133572273133572376E06819001
chr3133572430133572579E06819158
chr3133572588133572638E06819316
chr3133573215133573347E06819943
chr3133573885133574171E06820613
chr3133574725133574824E06821453
chr3133575303133575377E06822031
chr3133584047133584242E06830775
chr3133587242133587401E06833970
chr3133587644133588157E06834372
chr3133588170133588246E06834898
chr3133590458133590539E06837186
chr3133591508133591609E06838236
chr3133599175133599394E06845903
chr3133600933133601305E06847661
chr3133601479133601597E06848207
chr3133601946133602097E06848674
chr3133540603133541021E069-12251
chr3133541191133541245E069-12027
chr3133572273133572376E06919001
chr3133572430133572579E06919158
chr3133572588133572638E06919316
chr3133573215133573347E06919943
chr3133573885133574171E06920613
chr3133574725133574824E06921453
chr3133575303133575377E06922031
chr3133584047133584242E06930775
chr3133587242133587401E06933970
chr3133587644133588157E06934372
chr3133588170133588246E06934898
chr3133590458133590539E06937186
chr3133591508133591609E06938236
chr3133547093133547193E070-6079
chr3133547516133547745E070-5527
chr3133547924133548172E070-5100
chr3133572273133572376E07019001
chr3133572430133572579E07019158
chr3133572588133572638E07019316
chr3133573215133573347E07019943
chr3133573885133574171E07020613
chr3133574725133574824E07021453
chr3133575303133575377E07022031
chr3133587242133587401E07033970
chr3133587644133588157E07034372
chr3133540337133540417E071-12855
chr3133572273133572376E07119001
chr3133572430133572579E07119158
chr3133572588133572638E07119316
chr3133573215133573347E07119943
chr3133573885133574171E07120613
chr3133574725133574824E07121453
chr3133582903133583150E07129631
chr3133584047133584242E07130775
chr3133587242133587401E07133970
chr3133587644133588157E07134372
chr3133588170133588246E07134898
chr3133601946133602097E07148674
chr3133573215133573347E07219943
chr3133573885133574171E07220613
chr3133574725133574824E07221453
chr3133582298133582380E07229026
chr3133584047133584242E07230775
chr3133587242133587401E07233970
chr3133587644133588157E07234372
chr3133588170133588246E07234898
chr3133590458133590539E07237186
chr3133591508133591609E07238236
chr3133596301133596352E07243029
chr3133540006133540074E073-13198
chr3133540337133540417E073-12855
chr3133540603133541021E073-12251
chr3133541035133541081E073-12191
chr3133541191133541245E073-12027
chr3133572273133572376E07319001
chr3133573215133573347E07319943
chr3133573885133574171E07320613
chr3133574725133574824E07321453
chr3133575303133575377E07322031
chr3133584047133584242E07330775
chr3133587242133587401E07333970
chr3133587644133588157E07334372
chr3133588170133588246E07334898
chr3133590458133590539E07337186
chr3133591508133591609E07338236
chr3133540006133540074E074-13198
chr3133540337133540417E074-12855
chr3133540603133541021E074-12251
chr3133541035133541081E074-12191
chr3133541191133541245E074-12027
chr3133541431133541497E074-11775
chr3133541623133541762E074-11510
chr3133541910133541964E074-11308
chr3133572430133572579E07419158
chr3133572588133572638E07419316
chr3133573215133573347E07419943
chr3133573885133574171E07420613
chr3133574725133574824E07421453
chr3133587242133587401E07433970
chr3133587644133588157E07434372
chr3133588170133588246E07434898
chr3133599175133599394E07445903
chr3133601479133601597E07448207
chr3133601946133602097E07448674
chr3133526132133526214E081-27058
chr3133572273133572376E08119001
chr3133573215133573347E08119943
chr3133573885133574171E08120613
chr3133574725133574824E08121453
chr3133587242133587401E08133970
chr3133588170133588246E08134898
chr3133591508133591609E08138236
chr3133547516133547745E082-5527
chr3133547924133548172E082-5100
chr3133548284133548391E082-4881
chr3133572273133572376E08219001
chr3133572430133572579E08219158
chr3133572588133572638E08219316
chr3133573215133573347E08219943
chr3133573885133574171E08220613
chr3133574725133574824E08221453
chr3133575303133575377E08222031
chr3133587242133587401E08233970
chr3133587644133588157E08234372
chr3133588170133588246E08234898










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133524082133525550E067-27722
chr3133525588133525634E067-27638
chr3133524082133525550E068-27722
chr3133525588133525634E068-27638
chr3133524082133525550E069-27722
chr3133524082133525550E070-27722
chr3133525588133525634E070-27638
chr3133524082133525550E071-27722
chr3133525588133525634E071-27638
chr3133524082133525550E072-27722
chr3133525588133525634E072-27638
chr3133524082133525550E073-27722
chr3133525588133525634E073-27638
chr3133524082133525550E074-27722
chr3133525588133525634E074-27638
chr3133524082133525550E081-27722
chr3133525588133525634E081-27638
chr3133524082133525550E082-27722
chr3133525588133525634E082-27638