rs7026937

Homo sapiens
G>A / G>C
PTPRD : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0146 (4381/29948,GnomAD)
A=0220 (6405/29118,TOPMED)
A=0178 (889/5008,1000G)
A=0003 (13/3854,ALSPAC)
A=0005 (18/3708,TWINSUK)
chr9:8558331 (GRCh38.p7) (9p24.1)
AD
GWASdb2
1   publication(s)
See rs on genome
275 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.8558331G>A
GRCh38.p7 chr 9NC_000009.12:g.8558331G>C
GRCh37.p13 chr 9NC_000009.11:g.8558331G>A
GRCh37.p13 chr 9NC_000009.11:g.8558331G>C
PTPRD RefSeqGeneNG_033963.1:g.2059393C>T
PTPRD RefSeqGeneNG_033963.1:g.2059393C>G

Gene: PTPRD, protein tyrosine phosphatase, receptor type D(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PTPRD transcript variant 5NM_001040712.2:c.N/AIntron Variant
PTPRD transcript variant 6NM_001171025.1:c.N/AIntron Variant
PTPRD transcript variant 1NM_002839.3:c.N/AIntron Variant
PTPRD transcript variant 2NM_130391.3:c.N/AIntron Variant
PTPRD transcript variant 3NM_130392.3:c.N/AIntron Variant
PTPRD transcript variant 4NM_130393.3:c.N/AIntron Variant
PTPRD transcript variant X10XM_006716817.3:c.N/AIntron Variant
PTPRD transcript variant X24XM_006716823.2:c.N/AIntron Variant
PTPRD transcript variant X26XM_006716825.3:c.N/AIntron Variant
PTPRD transcript variant X28XM_006716827.3:c.N/AIntron Variant
PTPRD transcript variant X40XM_006716832.3:c.N/AIntron Variant
PTPRD transcript variant X41XM_006716833.3:c.N/AIntron Variant
PTPRD transcript variant X42XM_006716834.3:c.N/AIntron Variant
PTPRD transcript variant X45XM_006716835.3:c.N/AIntron Variant
PTPRD transcript variant X48XM_006716837.3:c.N/AIntron Variant
PTPRD transcript variant X49XM_006716838.3:c.N/AIntron Variant
PTPRD transcript variant X50XM_006716839.3:c.N/AIntron Variant
PTPRD transcript variant X25XM_011517992.2:c.N/AIntron Variant
PTPRD transcript variant X1XM_017014958.1:c.N/AIntron Variant
PTPRD transcript variant X2XM_017014959.1:c.N/AIntron Variant
PTPRD transcript variant X3XM_017014960.1:c.N/AIntron Variant
PTPRD transcript variant X4XM_017014961.1:c.N/AIntron Variant
PTPRD transcript variant X5XM_017014962.1:c.N/AIntron Variant
PTPRD transcript variant X6XM_017014963.1:c.N/AIntron Variant
PTPRD transcript variant X7XM_017014964.1:c.N/AIntron Variant
PTPRD transcript variant X8XM_017014965.1:c.N/AIntron Variant
PTPRD transcript variant X9XM_017014966.1:c.N/AIntron Variant
PTPRD transcript variant X11XM_017014967.1:c.N/AIntron Variant
PTPRD transcript variant X12XM_017014968.1:c.N/AIntron Variant
PTPRD transcript variant X13XM_017014969.1:c.N/AIntron Variant
PTPRD transcript variant X14XM_017014970.1:c.N/AIntron Variant
PTPRD transcript variant X15XM_017014971.1:c.N/AIntron Variant
PTPRD transcript variant X16XM_017014972.1:c.N/AIntron Variant
PTPRD transcript variant X17XM_017014973.1:c.N/AIntron Variant
PTPRD transcript variant X18XM_017014974.1:c.N/AIntron Variant
PTPRD transcript variant X19XM_017014975.1:c.N/AIntron Variant
PTPRD transcript variant X20XM_017014976.1:c.N/AIntron Variant
PTPRD transcript variant X21XM_017014977.1:c.N/AIntron Variant
PTPRD transcript variant X22XM_017014978.1:c.N/AIntron Variant
PTPRD transcript variant X23XM_017014979.1:c.N/AIntron Variant
PTPRD transcript variant X27XM_017014980.1:c.N/AIntron Variant
PTPRD transcript variant X29XM_017014981.1:c.N/AIntron Variant
PTPRD transcript variant X30XM_017014982.1:c.N/AIntron Variant
PTPRD transcript variant X31XM_017014983.1:c.N/AIntron Variant
PTPRD transcript variant X32XM_017014984.1:c.N/AIntron Variant
PTPRD transcript variant X33XM_017014985.1:c.N/AIntron Variant
PTPRD transcript variant X34XM_017014986.1:c.N/AIntron Variant
PTPRD transcript variant X35XM_017014987.1:c.N/AIntron Variant
PTPRD transcript variant X36XM_017014988.1:c.N/AIntron Variant
PTPRD transcript variant X37XM_017014989.1:c.N/AIntron Variant
PTPRD transcript variant X38XM_017014990.1:c.N/AIntron Variant
PTPRD transcript variant X39XM_017014991.1:c.N/AIntron Variant
PTPRD transcript variant X43XM_017014992.1:c.N/AIntron Variant
PTPRD transcript variant X44XM_017014993.1:c.N/AIntron Variant
PTPRD transcript variant X46XM_017014994.1:c.N/AIntron Variant
PTPRD transcript variant X47XM_017014995.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.420A=0.580
1000GenomesAmericanSub694G=0.940A=0.060
1000GenomesEast AsianSub1008G=0.945A=0.055
1000GenomesEuropeSub1006G=0.992A=0.008
1000GenomesGlobalStudy-wide5008G=0.822A=0.178
1000GenomesSouth AsianSub978G=0.980A=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.997A=0.003
The Genome Aggregation DatabaseAfricanSub8694G=0.524C=0.000
The Genome Aggregation DatabaseAmericanSub838G=0.950C=0.00,
The Genome Aggregation DatabaseEast AsianSub1618G=0.943C=0.000
The Genome Aggregation DatabaseEuropeSub18496G=0.994C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29948G=0.853C=0.000
The Genome Aggregation DatabaseOtherSub302G=0.980C=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.780A=0.220
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.995A=0.005
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs70269370.000296alcohol dependence24277619

eQTL of rs7026937 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 rs7026937 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 )
chr9132113175132115880E067-38313
chr9132156170132156220E0671977
chr9132156422132156658E0672229
chr9132156698132157123E0672505
chr9132157134132157274E0672941
chr9132157303132157353E0673110
chr9132161690132162455E0677497
chr9132162525132162600E0678332
chr9132165328132165382E06711135
chr9132165436132165754E06711243
chr9132170319132170705E06716126
chr9132170738132170839E06716545
chr9132170904132171610E06716711
chr9132174826132174970E06720633
chr9132194138132194509E06739945
chr9132194594132195477E06740401
chr9132105629132105688E068-48505
chr9132105708132106670E068-47523
chr9132112896132113125E068-41068
chr9132113175132115880E068-38313
chr9132115882132116552E068-37641
chr9132144465132144620E068-9573
chr9132144708132144790E068-9403
chr9132153675132154058E068-135
chr9132154171132154325E0680
chr9132157303132157353E0683110
chr9132163803132165115E0689610
chr9132165328132165382E06811135
chr9132165436132165754E06811243
chr9132170319132170705E06816126
chr9132171665132171705E06817472
chr9132174826132174970E06820633
chr9132185485132185860E06831292
chr9132194138132194509E06839945
chr9132194594132195477E06840401
chr9132113175132115880E069-38313
chr9132115882132116552E069-37641
chr9132156170132156220E0691977
chr9132156422132156658E0692229
chr9132156698132157123E0692505
chr9132157134132157274E0692941
chr9132157303132157353E0693110
chr9132163803132165115E0699610
chr9132165328132165382E06911135
chr9132165436132165754E06911243
chr9132165808132165902E06911615
chr9132170319132170705E06916126
chr9132170738132170839E06916545
chr9132170904132171610E06916711
chr9132174826132174970E06920633
chr9132194138132194509E06939945
chr9132113175132115880E070-38313
chr9132115882132116552E070-37641
chr9132116571132116689E070-37504
chr9132122434132122615E070-31578
chr9132122698132122803E070-31390
chr9132123512132123602E070-30591
chr9132123712132123801E070-30392
chr9132123830132123913E070-30280
chr9132124102132124152E070-30041
chr9132124588132124832E070-29361
chr9132124913132125007E070-29186
chr9132140210132140555E070-13638
chr9132141205132141333E070-12860
chr9132141336132141389E070-12804
chr9132141542132141773E070-12420
chr9132141863132141930E070-12263
chr9132141963132142100E070-12093
chr9132142167132142207E070-11986
chr9132142209132142259E070-11934
chr9132142264132142461E070-11732
chr9132144465132144620E070-9573
chr9132144708132144790E070-9403
chr9132155602132155762E0701409
chr9132155804132155876E0701611
chr9132156011132156051E0701818
chr9132156170132156220E0701977
chr9132163803132165115E0709610
chr9132165328132165382E07011135
chr9132165436132165754E07011243
chr9132165808132165902E07011615
chr9132166111132166429E07011918
chr9132166502132166730E07012309
chr9132166772132166883E07012579
chr9132166943132167115E07012750
chr9132167315132167380E07013122
chr9132167404132167875E07013211
chr9132170213132170276E07016020
chr9132170319132170705E07016126
chr9132170738132170839E07016545
chr9132170904132171610E07016711
chr9132173776132173893E07019583
chr9132173968132174184E07019775
chr9132174188132174290E07019995
chr9132174826132174970E07020633
chr9132177840132178142E07023647
chr9132178154132178372E07023961
chr9132184392132185412E07030199
chr9132185485132185860E07031292
chr9132189863132190061E07035670
chr9132190065132190160E07035872
chr9132190162132190291E07035969
chr9132190309132191499E07036116
chr9132191531132191640E07037338
chr9132191723132191800E07037530
chr9132191993132192226E07037800
chr9132192650132192702E07038457
chr9132193089132193296E07038896
chr9132194138132194509E07039945
chr9132194594132195477E07040401
chr9132195540132195590E07041347
chr9132105195132105475E071-48718
chr9132105629132105688E071-48505
chr9132113175132115880E071-38313
chr9132115882132116552E071-37641
chr9132144465132144620E071-9573
chr9132144708132144790E071-9403
chr9132156170132156220E0711977
chr9132156422132156658E0712229
chr9132156698132157123E0712505
chr9132157134132157274E0712941
chr9132163803132165115E0719610
chr9132165328132165382E07111135
chr9132170319132170705E07116126
chr9132170738132170839E07116545
chr9132170904132171610E07116711
chr9132194594132195477E07140401
chr9132113175132115880E072-38313
chr9132153675132154058E072-135
chr9132156422132156658E0722229
chr9132156698132157123E0722505
chr9132157134132157274E0722941
chr9132157303132157353E0723110
chr9132163803132165115E0729610
chr9132165328132165382E07211135
chr9132165436132165754E07211243
chr9132165808132165902E07211615
chr9132166111132166429E07211918
chr9132166502132166730E07212309
chr9132166772132166883E07212579
chr9132170213132170276E07216020
chr9132170319132170705E07216126
chr9132170738132170839E07216545
chr9132170904132171610E07216711
chr9132194138132194509E07239945
chr9132194594132195477E07240401
chr9132113175132115880E073-38313
chr9132146878132147024E073-7169
chr9132153675132154058E073-135
chr9132154171132154325E0730
chr9132156698132157123E0732505
chr9132157134132157274E0732941
chr9132157303132157353E0733110
chr9132161690132162455E0737497
chr9132165328132165382E07311135
chr9132165436132165754E07311243
chr9132165808132165902E07311615
chr9132166111132166429E07311918
chr9132166502132166730E07312309
chr9132166772132166883E07312579
chr9132166943132167115E07312750
chr9132170738132170839E07316545
chr9132170904132171610E07316711
chr9132171665132171705E07317472
chr9132172063132172237E07317870
chr9132172277132172463E07318084
chr9132174826132174970E07320633
chr9132194594132195477E07340401
chr9132105195132105475E074-48718
chr9132105629132105688E074-48505
chr9132113175132115880E074-38313
chr9132115882132116552E074-37641
chr9132170738132170839E07416545
chr9132104284132104367E081-49826
chr9132104617132104667E081-49526
chr9132104680132104729E081-49464
chr9132104809132105113E081-49080
chr9132105195132105475E081-48718
chr9132105629132105688E081-48505
chr9132105708132106670E081-47523
chr9132106966132107375E081-46818
chr9132107391132107713E081-46480
chr9132107899132108041E081-46152
chr9132112546132112801E081-41392
chr9132112896132113125E081-41068
chr9132113175132115880E081-38313
chr9132115882132116552E081-37641
chr9132119786132119884E081-34309
chr9132119987132120031E081-34162
chr9132122434132122615E081-31578
chr9132122698132122803E081-31390
chr9132123512132123602E081-30591
chr9132123712132123801E081-30392
chr9132123830132123913E081-30280
chr9132124102132124152E081-30041
chr9132124588132124832E081-29361
chr9132124913132125007E081-29186
chr9132141542132141773E081-12420
chr9132141863132141930E081-12263
chr9132141963132142100E081-12093
chr9132142167132142207E081-11986
chr9132155403132155468E0811210
chr9132156011132156051E0811818
chr9132156170132156220E0811977
chr9132156422132156658E0812229
chr9132156698132157123E0812505
chr9132157134132157274E0812941
chr9132157303132157353E0813110
chr9132161051132161334E0816858
chr9132161383132161517E0817190
chr9132161561132161635E0817368
chr9132161690132162455E0817497
chr9132163803132165115E0819610
chr9132165328132165382E08111135
chr9132165436132165754E08111243
chr9132165808132165902E08111615
chr9132166111132166429E08111918
chr9132166502132166730E08112309
chr9132166772132166883E08112579
chr9132166943132167115E08112750
chr9132167315132167380E08113122
chr9132167404132167875E08113211
chr9132169708132169813E08115515
chr9132170005132170055E08115812
chr9132170213132170276E08116020
chr9132170319132170705E08116126
chr9132170738132170839E08116545
chr9132170904132171610E08116711
chr9132174826132174970E08120633
chr9132177840132178142E08123647
chr9132178154132178372E08123961
chr9132178397132179456E08124204
chr9132185485132185860E08131292
chr9132190162132190291E08135969
chr9132190309132191499E08136116
chr9132191531132191640E08137338
chr9132191723132191800E08137530
chr9132191993132192226E08137800
chr9132193089132193296E08138896
chr9132194138132194509E08139945
chr9132194594132195477E08140401
chr9132202394132202444E08148201
chr9132202674132203012E08148481
chr9132203207132203348E08149014
chr9132203388132203588E08149195
chr9132203673132203745E08149480
chr9132204007132204062E08149814
chr9132204136132204186E08149943
chr9132108234132108507E082-45686
chr9132108523132108610E082-45583
chr9132112896132113125E082-41068
chr9132123512132123602E082-30591
chr9132123712132123801E082-30392
chr9132143672132144140E082-10053
chr9132144141132144262E082-9931
chr9132144465132144620E082-9573
chr9132144708132144790E082-9403
chr9132156170132156220E0821977
chr9132157303132157353E0823110
chr9132161690132162455E0827497
chr9132163803132165115E0829610
chr9132165328132165382E08211135
chr9132165436132165754E08211243
chr9132165808132165902E08211615
chr9132166111132166429E08211918
chr9132166502132166730E08212309
chr9132166772132166883E08212579
chr9132166943132167115E08212750
chr9132170738132170839E08216545
chr9132190162132190291E08235969
chr9132190309132191499E08236116
chr9132193089132193296E08238896
chr9132194138132194509E08239945
chr9132202394132202444E08248201
chr9132202674132203012E08248481










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr9132198893132199949E06744700
chr9132200003132200817E06745810
chr9132198893132199949E06844700
chr9132200003132200817E06845810
chr9132198893132199949E06944700
chr9132200003132200817E06945810
chr9132198893132199949E07044700
chr9132200003132200817E07045810
chr9132198893132199949E07144700
chr9132200003132200817E07145810
chr9132198893132199949E07244700
chr9132200003132200817E07245810
chr9132198893132199949E07344700
chr9132200003132200817E07345810
chr9132198893132199949E07444700
chr9132200003132200817E07445810
chr9132198893132199949E08144700
chr9132198893132199949E08244700
chr9132200003132200817E08245810