rs942568

Homo sapiens
G>T
COL13A1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0190 (5706/29958,GnomAD)
G==0242 (7074/29118,TOPMED)
G==0182 (910/5008,1000G)
G==0107 (413/3854,ALSPAC)
G==0120 (445/3708,TWINSUK)
chr10:69897865 (GRCh38.p7) (10q22.1)
ND
GWASdb2
1   publication(s)
See rs on genome
213 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.69897865G>T
GRCh37.p13 chr 10NC_000010.10:g.71657621G>T
COL13A1 RefSeqGeneNG_046344.1:g.100978G>T

Gene: COL13A1, collagen type XIII alpha 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
COL13A1 transcript variant 1NM_001130103.1:c.N/AIntron Variant
COL13A1 transcript variant 22NM_001320951.1:c.N/AIntron Variant
COL13A1 transcript variant 21NM_080798.3:c.N/AIntron Variant
COL13A1 transcript variant 11NM_080800.3:c.N/AIntron Variant
COL13A1 transcript variant 5NM_080801.3:c.N/AIntron Variant
COL13A1 transcript variant 15NM_080802.3:c.N/AIntron Variant
COL13A1 transcript variant 19NM_080805.3:c.N/AIntron Variant
COL13A1 transcript variant X1XM_011539292.2:c.N/AIntron Variant
COL13A1 transcript variant X3XM_011539293.2:c.N/AIntron Variant
COL13A1 transcript variant X5XM_011539294.2:c.N/AIntron Variant
COL13A1 transcript variant X6XM_011539295.2:c.N/AIntron Variant
COL13A1 transcript variant X2XM_017015676.1:c.N/AIntron Variant
COL13A1 transcript variant X4XM_017015677.1:c.N/AIntron Variant
COL13A1 transcript variant X7XM_017015678.1:c.N/AIntron Variant
COL13A1 transcript variant X8XM_017015679.1:c.N/AIntron Variant
COL13A1 transcript variant X9XM_017015680.1:c.N/AIntron Variant
COL13A1 transcript variant X10XM_017015681.1:c.N/AIntron Variant
COL13A1 transcript variant X11XM_017015682.1:c.N/AIntron Variant
COL13A1 transcript variant X12XM_017015683.1:c.N/AIntron Variant
COL13A1 transcript variant X13XM_017015684.1:c.N/AIntron Variant
COL13A1 transcript variant X14XM_017015685.1:c.N/AIntron Variant
COL13A1 transcript variant X15XM_017015686.1:c.N/AIntron Variant
COL13A1 transcript variant X16XM_017015687.1:c.N/AIntron Variant
COL13A1 transcript variant X17XM_017015688.1:c.N/AIntron Variant
COL13A1 transcript variant X18XM_017015689.1:c.N/AIntron Variant
COL13A1 transcript variant X19XM_017015690.1:c.N/AIntron Variant
COL13A1 transcript variant X20XM_017015691.1:c.N/AIntron Variant
COL13A1 transcript variant X21XM_017015692.1:c.N/AIntron Variant
COL13A1 transcript variant X22XM_017015693.1:c.N/AIntron Variant
COL13A1 transcript variant X23XM_017015694.1:c.N/AIntron Variant
COL13A1 transcript variant X24XM_017015695.1:c.N/AIntron Variant
COL13A1 transcript variant X25XM_017015696.1:c.N/AIntron Variant
COL13A1 transcript variant X26XM_017015697.1:c.N/AIntron Variant
COL13A1 transcript variant X27XR_001747024.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.427T=0.573
1000GenomesAmericanSub694G=0.110T=0.890
1000GenomesEast AsianSub1008G=0.027T=0.973
1000GenomesEuropeSub1006G=0.135T=0.865
1000GenomesGlobalStudy-wide5008G=0.182T=0.818
1000GenomesSouth AsianSub978G=0.110T=0.890
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.107T=0.893
The Genome Aggregation DatabaseAfricanSub8714G=0.391T=0.609
The Genome Aggregation DatabaseAmericanSub838G=0.100T=0.900
The Genome Aggregation DatabaseEast AsianSub1622G=0.017T=0.983
The Genome Aggregation DatabaseEuropeSub18482G=0.117T=0.883
The Genome Aggregation DatabaseGlobalStudy-wide29958G=0.190T=0.809
The Genome Aggregation DatabaseOtherSub302G=0.080T=0.920
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.242T=0.757
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.120T=0.880
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs9425680.000306nicotine smoking19268276

eQTL of rs942568 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 rs942568 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 )
chr107161523871616183E067-41438
chr107164360471644065E067-13556
chr107164407571644187E067-13434
chr107164507071645930E067-11691
chr107167099071671040E06713369
chr107167115371671232E06713532
chr107167124371671290E06713622
chr107167139971671691E06713778
chr107167174171672038E06714120
chr107167205371672169E06714432
chr107167236371672742E06714742
chr107167282071673004E06715199
chr107161523871616183E068-41438
chr107161621771616819E068-40802
chr107161686371617013E068-40608
chr107162599071627337E068-30284
chr107163302171633225E068-24396
chr107163349771633547E068-24074
chr107163356071633859E068-23762
chr107164005071640308E068-17313
chr107164304671643534E068-14087
chr107164360471644065E068-13556
chr107164407571644187E068-13434
chr107164424371644283E068-13338
chr107164457771644707E068-12914
chr107166132971661987E0683708
chr107167099071671040E06813369
chr107167115371671232E06813532
chr107167124371671290E06813622
chr107167139971671691E06813778
chr107167236371672742E06814742
chr107161523871616183E069-41438
chr107162599071627337E069-30284
chr107164304671643534E069-14087
chr107164360471644065E069-13556
chr107164407571644187E069-13434
chr107164424371644283E069-13338
chr107164457771644707E069-12914
chr107164507071645930E069-11691
chr107166132971661987E0693708
chr107167069171670837E06913070
chr107167099071671040E06913369
chr107167115371671232E06913532
chr107167236371672742E06914742
chr107167282071673004E06915199
chr107161434171615198E070-42423
chr107161523871616183E070-41438
chr107161963671619831E070-37790
chr107161985271619948E070-37673
chr107161998571620536E070-37085
chr107162058671621012E070-36609
chr107162599071627337E070-30284
chr107163934671639756E070-17865
chr107163991371639976E070-17645
chr107164005071640308E070-17313
chr107164032271640927E070-16694
chr107165613771656858E070-763
chr107165688371656933E070-688
chr107165700071657093E070-528
chr107166132971661987E0703708
chr107167236371672742E07014742
chr107162599071627337E071-30284
chr107163746271638184E071-19437
chr107164005071640308E071-17313
chr107164032271640927E071-16694
chr107164304671643534E071-14087
chr107164360471644065E071-13556
chr107164407571644187E071-13434
chr107164424371644283E071-13338
chr107164457771644707E071-12914
chr107164507071645930E071-11691
chr107166132971661987E0713708
chr107167099071671040E07113369
chr107167115371671232E07113532
chr107167124371671290E07113622
chr107167139971671691E07113778
chr107161523871616183E072-41438
chr107162599071627337E072-30284
chr107164005071640308E072-17313
chr107164032271640927E072-16694
chr107164304671643534E072-14087
chr107164360471644065E072-13556
chr107164407571644187E072-13434
chr107164424371644283E072-13338
chr107164457771644707E072-12914
chr107164507071645930E072-11691
chr107166979471669876E07212173
chr107167003371670078E07212412
chr107167021171670275E07212590
chr107167040571670597E07212784
chr107167069171670837E07213070
chr107167099071671040E07213369
chr107167115371671232E07213532
chr107161523871616183E073-41438
chr107166132971661987E0733708
chr107166203271662098E0734411
chr107166213771662187E0734516
chr107166248571662535E0734864
chr107167069171670837E07313070
chr107162584471625985E074-31636
chr107162599071627337E074-30284
chr107164360471644065E074-13556
chr107164407571644187E074-13434
chr107164424371644283E074-13338
chr107164457771644707E074-12914
chr107164507071645930E074-11691
chr107166132971661987E0743708
chr107167021171670275E07412590
chr107167040571670597E07412784
chr107167069171670837E07413070
chr107167099071671040E07413369
chr107161082571611308E081-46313
chr107161232071612573E081-45048
chr107161257671612732E081-44889
chr107161284071613244E081-44377
chr107161326971613623E081-43998
chr107161368071613753E081-43868
chr107161379771614149E081-43472
chr107161421771614267E081-43354
chr107161434171615198E081-42423
chr107161523871616183E081-41438
chr107161621771616819E081-40802
chr107161686371617013E081-40608
chr107161708771617142E081-40479
chr107161722671617276E081-40345
chr107161731371617363E081-40258
chr107161998571620536E081-37085
chr107162058671621012E081-36609
chr107162390571624615E081-33006
chr107162470871624820E081-32801
chr107162489171624948E081-32673
chr107162498271625216E081-32405
chr107162534071625457E081-32164
chr107162550471625554E081-32067
chr107162584471625985E081-31636
chr107162599071627337E081-30284
chr107163696771637081E081-20540
chr107163708971637440E081-20181
chr107163746271638184E081-19437
chr107163915571639280E081-18341
chr107163934671639756E081-17865
chr107163991371639976E081-17645
chr107164005071640308E081-17313
chr107164032271640927E081-16694
chr107165029371651191E081-6430
chr107165225971652593E081-5028
chr107165267271652997E081-4624
chr107165307071653262E081-4359
chr107165328471653554E081-4067
chr107165515871655208E081-2413
chr107165541771656034E081-1587
chr107165613771656858E081-763
chr107165688371656933E081-688
chr107165700071657093E081-528
chr107165736271657507E081-114
chr107166071071661300E0813089
chr107166132971661987E0813708
chr107167003371670078E08112412
chr107167021171670275E08112590
chr107167040571670597E08112784
chr107167069171670837E08113070
chr107167099071671040E08113369
chr107167115371671232E08113532
chr107167124371671290E08113622
chr107167139971671691E08113778
chr107167174171672038E08114120
chr107167205371672169E08114432
chr107167236371672742E08114742
chr107167282071673004E08115199
chr107167307671673137E08115455
chr107167332271673794E08115701
chr107167382871674051E08116207
chr107167406671674159E08116445
chr107167418971675022E08116568
chr107168077171680821E08123150
chr107168089671681010E08123275
chr107161326971613623E082-43998
chr107161368071613753E082-43868
chr107161379771614149E082-43472
chr107161421771614267E082-43354
chr107161434171615198E082-42423
chr107161523871616183E082-41438
chr107161621771616819E082-40802
chr107161686371617013E082-40608
chr107161708771617142E082-40479
chr107161963671619831E082-37790
chr107161985271619948E082-37673
chr107161998571620536E082-37085
chr107162058671621012E082-36609
chr107162584471625985E082-31636
chr107162599071627337E082-30284
chr107163746271638184E082-19437
chr107165190671651996E082-5625
chr107165225971652593E082-5028
chr107165267271652997E082-4624
chr107165307071653262E082-4359
chr107165328471653554E082-4067
chr107165541771656034E082-1587
chr107165613771656858E082-763
chr107167021171670275E08212590
chr107167040571670597E08212784
chr107167069171670837E08213070
chr107167099071671040E08213369
chr107167115371671232E08213532
chr107167124371671290E08213622
chr107167139971671691E08213778
chr107167174171672038E08214120
chr107167205371672169E08214432
chr107167236371672742E08214742
chr107167282071673004E08215199
chr107167307671673137E08215455
chr107168077171680821E08223150
chr107168089671681010E08223275