rs216495

Homo sapiens
G>A
PLEKHA7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0318 (9522/29942,GnomAD)
G==0322 (9381/29118,TOPMED)
G==0297 (1486/5008,1000G)
G==0382 (1472/3854,ALSPAC)
G==0385 (1429/3708,TWINSUK)
chr11:16812963 (GRCh38.p7) (11p15.2)
ND
GWASdb2
1   publication(s)
See rs on genome
288 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.16812963G>A
GRCh37.p13 chr 11NC_000011.9:g.16834510G>A

Gene: PLEKHA7, pleckstrin homology domain containing A7(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PLEKHA7 transcript variant 2NM_175058.4:c.N/AIntron Variant
PLEKHA7 transcript variant X1XM_017017240.1:c.N/AIntron Variant
PLEKHA7 transcript variant X2XM_017017241.1:c.N/AIntron Variant
PLEKHA7 transcript variant X3XM_017017242.1:c.N/AIntron Variant
PLEKHA7 transcript variant X4XM_017017243.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.236A=0.764
1000GenomesAmericanSub694G=0.310A=0.690
1000GenomesEast AsianSub1008G=0.250A=0.750
1000GenomesEuropeSub1006G=0.376A=0.624
1000GenomesGlobalStudy-wide5008G=0.297A=0.703
1000GenomesSouth AsianSub978G=0.340A=0.660
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.382A=0.618
The Genome Aggregation DatabaseAfricanSub8710G=0.265A=0.735
The Genome Aggregation DatabaseAmericanSub836G=0.330A=0.670
The Genome Aggregation DatabaseEast AsianSub1616G=0.253A=0.747
The Genome Aggregation DatabaseEuropeSub18478G=0.348A=0.651
The Genome Aggregation DatabaseGlobalStudy-wide29942G=0.318A=0.682
The Genome Aggregation DatabaseOtherSub302G=0.320A=0.680
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.322A=0.677
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.385A=0.615
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs2164952.88E-05alcohol and nictotine co-dependence20158304

eQTL of rs216495 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 rs216495 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 )
chr111682792816828005E067-6505
chr111682805716829305E067-5205
chr111683139916831699E067-2811
chr111683172716832204E067-2306
chr111683221516832313E067-2197
chr111683233216832388E067-2122
chr111683243216832492E067-2018
chr111683267916832785E067-1725
chr111683302816833153E067-1357
chr111683318616833249E067-1261
chr111683330716833357E067-1153
chr111683360016833650E067-860
chr111683383716834264E067-246
chr111683427116834365E067-145
chr111683715016837272E0672640
chr111684178916842508E0677279
chr111681275216812819E068-21691
chr111681283716812929E068-21581
chr111681300016813929E068-20581
chr111681468716814737E068-19773
chr111681482116814914E068-19596
chr111681506616815128E068-19382
chr111681522116815298E068-19212
chr111682751516827852E068-6658
chr111682792816828005E068-6505
chr111682805716829305E068-5205
chr111683082216831032E068-3478
chr111683104316831162E068-3348
chr111683139916831699E068-2811
chr111683172716832204E068-2306
chr111683221516832313E068-2197
chr111683233216832388E068-2122
chr111683243216832492E068-2018
chr111683267916832785E068-1725
chr111683302816833153E068-1357
chr111683318616833249E068-1261
chr111683330716833357E068-1153
chr111683360016833650E068-860
chr111683383716834264E068-246
chr111683427116834365E068-145
chr111683455816834616E06848
chr111683475416834929E068244
chr111683501016835172E068500
chr111683545116835501E068941
chr111683562016835810E0681110
chr111683582416835874E0681314
chr111683592416836296E0681414
chr111683637716836490E0681867
chr111683649716837101E0681987
chr111683715016837272E0682640
chr111683977516839819E0685265
chr111683999716840120E0685487
chr111684178916842508E0687279
chr111685434316854496E06819833
chr111685454416854983E06820034
chr111685797016858067E06823460
chr111685806916858119E06823559
chr111687745716878214E06842947
chr111688190016882520E06847390
chr111688256016882600E06848050
chr111688270016882760E06848190
chr111688289116882971E06848381
chr111688313516883335E06848625
chr111688351716883830E06849007
chr111688389116884069E06849381
chr111688410216884314E06849592
chr111682751516827852E069-6658
chr111682792816828005E069-6505
chr111682805716829305E069-5205
chr111683139916831699E069-2811
chr111683172716832204E069-2306
chr111683221516832313E069-2197
chr111683233216832388E069-2122
chr111683243216832492E069-2018
chr111683267916832785E069-1725
chr111683302816833153E069-1357
chr111683318616833249E069-1261
chr111683330716833357E069-1153
chr111683360016833650E069-860
chr111683383716834264E069-246
chr111683427116834365E069-145
chr111683637716836490E0691867
chr111683649716837101E0691987
chr111683715016837272E0692640
chr111683977516839819E0695265
chr111683999716840120E0695487
chr111684178916842508E0697279
chr111684635816847027E06911848
chr111685797016858067E06923460
chr111685806916858119E06923559
chr111687874216879191E06944232
chr111688313516883335E06948625
chr111688351716883830E06949007
chr111688389116884069E06949381
chr111688410216884314E06949592
chr111683139916831699E070-2811
chr111683172716832204E070-2306
chr111683221516832313E070-2197
chr111683233216832388E070-2122
chr111683243216832492E070-2018
chr111683267916832785E070-1725
chr111683649716837101E0701987
chr111683715016837272E0702640
chr111687643216876657E07041922
chr111687667016876830E07042160
chr111687684116877334E07042331
chr111688389116884069E07049381
chr111681300016813929E071-20581
chr111682740916827493E071-7017
chr111682751516827852E071-6658
chr111682792816828005E071-6505
chr111682805716829305E071-5205
chr111683049716830551E071-3959
chr111683057716830767E071-3743
chr111683082216831032E071-3478
chr111683104316831162E071-3348
chr111683139916831699E071-2811
chr111683172716832204E071-2306
chr111683221516832313E071-2197
chr111683233216832388E071-2122
chr111683243216832492E071-2018
chr111683267916832785E071-1725
chr111683302816833153E071-1357
chr111683318616833249E071-1261
chr111683330716833357E071-1153
chr111683360016833650E071-860
chr111683383716834264E071-246
chr111683427116834365E071-145
chr111683455816834616E07148
chr111683475416834929E071244
chr111683501016835172E071500
chr111683582416835874E0711314
chr111683592416836296E0711414
chr111683637716836490E0711867
chr111683649716837101E0711987
chr111683715016837272E0712640
chr111683782716837886E0713317
chr111683804816838134E0713538
chr111683864816838712E0714138
chr111683875216838802E0714242
chr111683882116839331E0714311
chr111683977516839819E0715265
chr111684178916842508E0717279
chr111684252216842653E0718012
chr111684635816847027E07111848
chr111684703916847095E07112529
chr111688351716883830E07149007
chr111688389116884069E07149381
chr111688410216884314E07149592
chr111682792816828005E072-6505
chr111682805716829305E072-5205
chr111683139916831699E072-2811
chr111683172716832204E072-2306
chr111683221516832313E072-2197
chr111683233216832388E072-2122
chr111683243216832492E072-2018
chr111683267916832785E072-1725
chr111683302816833153E072-1357
chr111683318616833249E072-1261
chr111683330716833357E072-1153
chr111683360016833650E072-860
chr111683383716834264E072-246
chr111683427116834365E072-145
chr111683637716836490E0721867
chr111683649716837101E0721987
chr111684635816847027E07211848
chr111688351716883830E07249007
chr111688389116884069E07249381
chr111688410216884314E07249592
chr111681300016813929E073-20581
chr111682805716829305E073-5205
chr111683139916831699E073-2811
chr111683172716832204E073-2306
chr111683221516832313E073-2197
chr111683233216832388E073-2122
chr111683243216832492E073-2018
chr111683267916832785E073-1725
chr111683302816833153E073-1357
chr111683318616833249E073-1261
chr111683330716833357E073-1153
chr111683360016833650E073-860
chr111683383716834264E073-246
chr111683427116834365E073-145
chr111683649716837101E0731987
chr111683977516839819E0735265
chr111683999716840120E0735487
chr111687667016876830E07342160
chr111687684116877334E07342331
chr111688351716883830E07349007
chr111688389116884069E07349381
chr111688410216884314E07349592
chr111682577216826618E074-7892
chr111682740916827493E074-7017
chr111682751516827852E074-6658
chr111682792816828005E074-6505
chr111682805716829305E074-5205
chr111683139916831699E074-2811
chr111683172716832204E074-2306
chr111683221516832313E074-2197
chr111683233216832388E074-2122
chr111683243216832492E074-2018
chr111683267916832785E074-1725
chr111683302816833153E074-1357
chr111683318616833249E074-1261
chr111683330716833357E074-1153
chr111683360016833650E074-860
chr111683383716834264E074-246
chr111683427116834365E074-145
chr111683455816834616E07448
chr111683475416834929E074244
chr111683562016835810E0741110
chr111683582416835874E0741314
chr111683592416836296E0741414
chr111683637716836490E0741867
chr111683715016837272E0742640
chr111683782716837886E0743317
chr111683804816838134E0743538
chr111683864816838712E0744138
chr111683875216838802E0744242
chr111683882116839331E0744311
chr111683977516839819E0745265
chr111684178916842508E0747279
chr111684635816847027E07411848
chr111687667016876830E07442160
chr111687684116877334E07442331
chr111687745716878214E07442947
chr111688351716883830E07449007
chr111688389116884069E07449381
chr111688410216884314E07449592
chr111679675716796827E081-37683
chr111679691916797085E081-37425
chr111679712316797918E081-36592
chr111679797416799322E081-35188
chr111679936816799670E081-34840
chr111679985916799913E081-34597
chr111679995816800043E081-34467
chr111680014016800190E081-34320
chr111680034216800392E081-34118
chr111680044816800498E081-34012
chr111680059716800671E081-33839
chr111682792816828005E081-6505
chr111682805716829305E081-5205
chr111683049716830551E081-3959
chr111683057716830767E081-3743
chr111683082216831032E081-3478
chr111683104316831162E081-3348
chr111683139916831699E081-2811
chr111683172716832204E081-2306
chr111683221516832313E081-2197
chr111683233216832388E081-2122
chr111683243216832492E081-2018
chr111683267916832785E081-1725
chr111683302816833153E081-1357
chr111683318616833249E081-1261
chr111683330716833357E081-1153
chr111683545116835501E081941
chr111683562016835810E0811110
chr111683582416835874E0811314
chr111683592416836296E0811414
chr111683637716836490E0811867
chr111683649716837101E0811987
chr111683864816838712E0814138
chr111683875216838802E0814242
chr111683882116839331E0814311
chr111683977516839819E0815265
chr111683999716840120E0815487
chr111685013816850213E08115628
chr111685029716850542E08115787
chr111687140116871505E08136891
chr111687161516871665E08137105
chr111687175116871831E08137241
chr111687189416871964E08137384
chr111679691916797085E082-37425
chr111679712316797918E082-36592
chr111679797416799322E082-35188
chr111682792816828005E082-6505
chr111682805716829305E082-5205
chr111683172716832204E082-2306
chr111683221516832313E082-2197
chr111683233216832388E082-2122
chr111683243216832492E082-2018
chr111683267916832785E082-1725
chr111683977516839819E0825265
chr111683999716840120E0825487
chr111685013816850213E08215628
chr111687140116871505E08236891
chr111688389116884069E08249381
chr111688410216884314E08249592