rs6122571

Homo sapiens
T>C
ZMYND8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0018 (560/30000,GnomAD)
C=0019 (568/29118,TOPMED)
C=0057 (283/5008,1000G)
C=0001 (4/3854,ALSPAC)
C=0000 (1/3708,TWINSUK)
chr20:47277392 (GRCh38.p7) (20q13.12)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.47277392T>C
GRCh37.p13 chr 20NC_000020.10:g.45906136T>C

Gene: ZMYND8, zinc finger MYND-type containing 8(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ZMYND8 transcript variant 5NM_001281771.2:c.N/AIntron Variant
ZMYND8 transcript variant 6NM_001281772.2:c.N/AIntron Variant
ZMYND8 transcript variant 7NM_001281773.2:c.N/AIntron Variant
ZMYND8 transcript variant 8NM_001281774.2:c.N/AIntron Variant
ZMYND8 transcript variant 9NM_001281775.2:c.N/AIntron Variant
ZMYND8 transcript variant 10NM_001281776.2:c.N/AIntron Variant
ZMYND8 transcript variant 11NM_001281777.2:c.N/AIntron Variant
ZMYND8 transcript variant 12NM_001281778.2:c.N/AIntron Variant
ZMYND8 transcript variant 13NM_001281779.2:c.N/AIntron Variant
ZMYND8 transcript variant 14NM_001281780.2:c.N/AIntron Variant
ZMYND8 transcript variant 15NM_001281781.2:c.N/AIntron Variant
ZMYND8 transcript variant 16NM_001281782.2:c.N/AIntron Variant
ZMYND8 transcript variant 17NM_001281783.2:c.N/AIntron Variant
ZMYND8 transcript variant 18NM_001281784.2:c.N/AIntron Variant
ZMYND8 transcript variant 2NM_012408.5:c.N/AIntron Variant
ZMYND8 transcript variant 1NM_183047.3:c.N/AIntron Variant
ZMYND8 transcript variant 3NM_183048.3:c.N/AIntron Variant
ZMYND8 transcript variant 4NM_001281769.1:c.N/AGenic Downstream Transcript Variant
ZMYND8 transcript variant X1XM_005260356.4:c.N/AIntron Variant
ZMYND8 transcript variant X4XM_005260358.2:c.N/AIntron Variant
ZMYND8 transcript variant X6XM_005260360.4:c.N/AIntron Variant
ZMYND8 transcript variant X11XM_005260362.2:c.N/AIntron Variant
ZMYND8 transcript variant X18XM_005260364.2:c.N/AIntron Variant
ZMYND8 transcript variant X23XM_005260366.2:c.N/AIntron Variant
ZMYND8 transcript variant X3XM_006723760.3:c.N/AIntron Variant
ZMYND8 transcript variant X8XM_006723762.3:c.N/AIntron Variant
ZMYND8 transcript variant X12XM_006723763.1:c.N/AIntron Variant
ZMYND8 transcript variant X20XM_006723766.1:c.N/AIntron Variant
ZMYND8 transcript variant X2XM_011528749.2:c.N/AIntron Variant
ZMYND8 transcript variant X7XM_011528751.1:c.N/AIntron Variant
ZMYND8 transcript variant X15XM_011528752.1:c.N/AIntron Variant
ZMYND8 transcript variant X17XM_011528753.1:c.N/AIntron Variant
ZMYND8 transcript variant X19XM_011528754.1:c.N/AIntron Variant
ZMYND8 transcript variant X5XM_017027760.1:c.N/AIntron Variant
ZMYND8 transcript variant X9XM_017027761.1:c.N/AIntron Variant
ZMYND8 transcript variant X10XM_017027762.1:c.N/AIntron Variant
ZMYND8 transcript variant X13XM_017027763.1:c.N/AIntron Variant
ZMYND8 transcript variant X14XM_017027764.1:c.N/AIntron Variant
ZMYND8 transcript variant X16XM_017027765.1:c.N/AIntron Variant
ZMYND8 transcript variant X21XM_017027766.1:c.N/AIntron Variant
ZMYND8 transcript variant X22XM_017027767.1:c.N/AIntron Variant
ZMYND8 transcript variant X24XM_017027768.1:c.N/AIntron Variant
ZMYND8 transcript variant X25XM_017027769.1:c.N/AIntron Variant
ZMYND8 transcript variant X26XM_017027770.1:c.N/AIntron Variant
ZMYND8 transcript variant X27XM_017027771.1:c.N/AIntron Variant
ZMYND8 transcript variant X28XM_017027772.1:c.N/AIntron Variant
ZMYND8 transcript variant X29XM_017027773.1:c.N/AIntron Variant
ZMYND8 transcript variant X30XM_017027774.1:c.N/AIntron Variant
ZMYND8 transcript variant X31XM_017027775.1:c.N/AIntron Variant
ZMYND8 transcript variant X32XM_017027776.1:c.N/AIntron Variant
ZMYND8 transcript variant X33XM_017027777.1:c.N/AIntron Variant
ZMYND8 transcript variant X34XM_017027778.1:c.N/AIntron Variant
ZMYND8 transcript variant X35XM_017027779.1:c.N/AIntron Variant
ZMYND8 transcript variant X36XM_017027780.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.956C=0.044
1000GenomesAmericanSub694T=0.990C=0.010
1000GenomesEast AsianSub1008T=0.824C=0.176
1000GenomesEuropeSub1006T=0.998C=0.002
1000GenomesGlobalStudy-wide5008T=0.943C=0.057
1000GenomesSouth AsianSub978T=0.960C=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.999C=0.001
The Genome Aggregation DatabaseAfricanSub8736T=0.963C=0.037
The Genome Aggregation DatabaseAmericanSub838T=0.990C=0.010
The Genome Aggregation DatabaseEast AsianSub1616T=0.858C=0.142
The Genome Aggregation DatabaseEuropeSub18508T=0.999C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide30000T=0.981C=0.018
The Genome Aggregation DatabaseOtherSub302T=1.000C=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.980C=0.019
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=1.000C=0.000
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
rs61225710.00048alcohol consumption (maxi-drinks)24277619

eQTL of rs6122571 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 rs6122571 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 )
chr204587298145873021E067-33115
chr204587316345873479E067-32657
chr204587425845874468E067-31668
chr204587491045875142E067-30994
chr204587687145876915E067-29221
chr204588554445886033E067-20103
chr204588723445888271E067-17865
chr204588839945888629E067-17507
chr204589089745891030E067-15106
chr204589109345891297E067-14839
chr204589129945891762E067-14374
chr204589179145892759E067-13377
chr204589287045892920E067-13216
chr204589293745892997E067-13139
chr204590237345903881E067-2255
chr204590437945904537E067-1599
chr204590457945904684E067-1452
chr204590474445904809E067-1327
chr204590559145906375E0670
chr204592398645924087E06717850
chr204592425445924309E06718118
chr204592466545925170E06718529
chr204592526745925322E06719131
chr204592533745925492E06719201
chr204592579345926122E06719657
chr204592621345926286E06720077
chr204592634345926432E06720207
chr204592665545926754E06720519
chr204592677545926923E06720639
chr204593242545932478E06726289
chr204593262845933777E06726492
chr204593391045933975E06727774
chr204593739145937441E06731255
chr204593748845937646E06731352
chr204593765745938077E06731521
chr204593823245938286E06732096
chr204593831745938488E06732181
chr204593865545939134E06732519
chr204593915845939219E06733022
chr204594069145940819E06734555
chr204594092345941061E06734787
chr204594119845941273E06735062
chr204594132245941393E06735186
chr204594141945941491E06735283
chr204594391245943987E06737776
chr204594398845944820E06737852
chr204594492245944978E06738786
chr204594560745949192E06739471
chr204594937745949464E06743241
chr204594954145949699E06743405
chr204594980345949848E06743667
chr204594987745950586E06743741
chr204595405945954340E06747923
chr204595535145955906E06749215
chr204595598045956088E06749844
chr204586031745860762E068-45374
chr204587195045872047E068-34089
chr204587215145872230E068-33906
chr204587227445872332E068-33804
chr204587237045872926E068-33210
chr204587298145873021E068-33115
chr204587316345873479E068-32657
chr204588215245882239E068-23897
chr204588255745883020E068-23116
chr204588723445888271E068-17865
chr204588839945888629E068-17507
chr204589179145892759E068-13377
chr204590538845905442E068-694
chr204591976445919859E06813628
chr204591993945920096E06813803
chr204592016445920400E06814028
chr204592061245920672E06814476
chr204592466545925170E06818529
chr204592526745925322E06819131
chr204592533745925492E06819201
chr204592579345926122E06819657
chr204592621345926286E06820077
chr204593262845933777E06826492
chr204593748845937646E06831352
chr204593765745938077E06831521
chr204593983045939880E06833694
chr204593988445939941E06833748
chr204594092345941061E06834787
chr204594119845941273E06835062
chr204594132245941393E06835186
chr204594141945941491E06835283
chr204594157045941874E06835434
chr204594344145943830E06837305
chr204594391245943987E06837776
chr204594398845944820E06837852
chr204594492245944978E06838786
chr204594509645945262E06838960
chr204594937745949464E06843241
chr204594954145949699E06843405
chr204594980345949848E06843667
chr204594987745950586E06843741
chr204595065445950718E06844518
chr204595083145951179E06844695
chr204595146845951795E06845332
chr204595189145951941E06845755
chr204595203645952177E06845900
chr204595222545952647E06846089
chr204595318645953239E06847050
chr204595334545953450E06847209
chr204595345245953570E06847316
chr204595405945954340E06847923
chr204595535145955906E06849215
chr204595598045956088E06849844
chr204586031745860762E069-45374
chr204587084845871671E069-34465
chr204587178845871867E069-34269
chr204587195045872047E069-34089
chr204587215145872230E069-33906
chr204587227445872332E069-33804
chr204587237045872926E069-33210
chr204587298145873021E069-33115
chr204587316345873479E069-32657
chr204587491045875142E069-30994
chr204587520045875505E069-30631
chr204587572245875776E069-30360
chr204588723445888271E069-17865
chr204588839945888629E069-17507
chr204589109345891297E069-14839
chr204589129945891762E069-14374
chr204589179145892759E069-13377
chr204589287045892920E069-13216
chr204589293745892997E069-13139
chr204590000945900198E069-5938
chr204590237345903881E069-2255
chr204590437945904537E069-1599
chr204590457945904684E069-1452
chr204590474445904809E069-1327
chr204590497645905339E069-797
chr204590538845905442E069-694
chr204590559145906375E0690
chr204590675345906821E069617
chr204592398645924087E06917850
chr204592425445924309E06918118
chr204592466545925170E06918529
chr204592526745925322E06919131
chr204592533745925492E06919201
chr204592579345926122E06919657
chr204592621345926286E06920077
chr204592665545926754E06920519
chr204593141645931529E06925280
chr204593166845932135E06925532
chr204593242545932478E06926289
chr204593262845933777E06926492
chr204593739145937441E06931255
chr204593748845937646E06931352
chr204593765745938077E06931521
chr204593823245938286E06932096
chr204593831745938488E06932181
chr204593865545939134E06932519
chr204593915845939219E06933022
chr204593936345939763E06933227
chr204593983045939880E06933694
chr204593988445939941E06933748
chr204594069145940819E06934555
chr204594092345941061E06934787
chr204594119845941273E06935062
chr204594132245941393E06935186
chr204594141945941491E06935283
chr204594157045941874E06935434
chr204594323145943432E06937095
chr204594344145943830E06937305
chr204594391245943987E06937776
chr204594398845944820E06937852
chr204594492245944978E06938786
chr204594509645945262E06938960
chr204594560745949192E06939471
chr204594937745949464E06943241
chr204594954145949699E06943405
chr204594980345949848E06943667
chr204594987745950586E06943741
chr204595146845951795E06945332
chr204595189145951941E06945755
chr204595203645952177E06945900
chr204595222545952647E06946089
chr204595405945954340E06947923
chr204595535145955906E06949215
chr204595598045956088E06949844
chr204589089745891030E070-15106
chr204589109345891297E070-14839
chr204589129945891762E070-14374
chr204589179145892759E070-13377
chr204589287045892920E070-13216
chr204589293745892997E070-13139
chr204590497645905339E070-797
chr204590538845905442E070-694
chr204590559145906375E0700
chr204594323145943432E07037095
chr204594344145943830E07037305
chr204594391245943987E07037776
chr204594398845944820E07037852
chr204594492245944978E07038786
chr204594937745949464E07043241
chr204594954145949699E07043405
chr204594980345949848E07043667
chr204594987745950586E07043741
chr204595065445950718E07044518
chr204595083145951179E07044695
chr204587237045872926E071-33210
chr204587298145873021E071-33115
chr204587316345873479E071-32657
chr204587491045875142E071-30994
chr204587520045875505E071-30631
chr204587572245875776E071-30360
chr204587608145876162E071-29974
chr204587629245876332E071-29804
chr204587687145876915E071-29221
chr204588255745883020E071-23116
chr204588313045883409E071-22727
chr204588699945887101E071-19035
chr204588723445888271E071-17865
chr204589109345891297E071-14839
chr204589129945891762E071-14374
chr204589179145892759E071-13377
chr204589287045892920E071-13216
chr204589293745892997E071-13139
chr204590000945900198E071-5938
chr204590111145902040E071-4096
chr204590211845902168E071-3968
chr204590222145902271E071-3865
chr204590237345903881E071-2255
chr204590437945904537E071-1599
chr204590457945904684E071-1452
chr204590474445904809E071-1327
chr204590497645905339E071-797
chr204590559145906375E0710
chr204592360745923705E07117471
chr204592398645924087E07117850
chr204592425445924309E07118118
chr204592466545925170E07118529
chr204592526745925322E07119131
chr204592533745925492E07119201
chr204592579345926122E07119657
chr204592621345926286E07120077
chr204592634345926432E07120207
chr204593141645931529E07125280
chr204593166845932135E07125532
chr204593242545932478E07126289
chr204593262845933777E07126492
chr204593739145937441E07131255
chr204593748845937646E07131352
chr204593765745938077E07131521
chr204593823245938286E07132096
chr204593831745938488E07132181
chr204593865545939134E07132519
chr204593936345939763E07133227
chr204593983045939880E07133694
chr204593988445939941E07133748
chr204594014345940200E07134007
chr204594020545940403E07134069
chr204594057445940624E07134438
chr204594069145940819E07134555
chr204594092345941061E07134787
chr204594119845941273E07135062
chr204594132245941393E07135186
chr204594323145943432E07137095
chr204594344145943830E07137305
chr204594391245943987E07137776
chr204594398845944820E07137852
chr204594492245944978E07138786
chr204594509645945262E07138960
chr204594560745949192E07139471
chr204594937745949464E07143241
chr204594954145949699E07143405
chr204594980345949848E07143667
chr204594987745950586E07143741
chr204595065445950718E07144518
chr204595083145951179E07144695
chr204595146845951795E07145332
chr204595189145951941E07145755
chr204595203645952177E07145900
chr204595222545952647E07146089
chr204595318645953239E07147050
chr204595334545953450E07147209
chr204595345245953570E07147316
chr204595535145955906E07149215
chr204587237045872926E072-33210
chr204587298145873021E072-33115
chr204587316345873479E072-32657
chr204587608145876162E072-29974
chr204587629245876332E072-29804
chr204588554445886033E072-20103
chr204588607445886134E072-20002
chr204588723445888271E072-17865
chr204588839945888629E072-17507
chr204589109345891297E072-14839
chr204589129945891762E072-14374
chr204589179145892759E072-13377
chr204589287045892920E072-13216
chr204589293745892997E072-13139
chr204589637845896428E072-9708
chr204589650645896587E072-9549
chr204589664345896718E072-9418
chr204589672545896775E072-9361
chr204590000945900198E072-5938
chr204590237345903881E072-2255
chr204590437945904537E072-1599
chr204590559145906375E0720
chr204592360745923705E07217471
chr204592398645924087E07217850
chr204592425445924309E07218118
chr204592466545925170E07218529
chr204592526745925322E07219131
chr204592533745925492E07219201
chr204592579345926122E07219657
chr204592621345926286E07220077
chr204592634345926432E07220207
chr204592665545926754E07220519
chr204592677545926923E07220639
chr204593262845933777E07226492
chr204593739145937441E07231255
chr204593748845937646E07231352
chr204593765745938077E07231521
chr204593823245938286E07232096
chr204593831745938488E07232181
chr204593865545939134E07232519
chr204593915845939219E07233022
chr204593936345939763E07233227
chr204593983045939880E07233694
chr204593988445939941E07233748
chr204594014345940200E07234007
chr204594020545940403E07234069
chr204594057445940624E07234438
chr204594069145940819E07234555
chr204594092345941061E07234787
chr204594119845941273E07235062
chr204594132245941393E07235186
chr204594141945941491E07235283
chr204594157045941874E07235434
chr204594398845944820E07237852
chr204594492245944978E07238786
chr204594937745949464E07243241
chr204594954145949699E07243405
chr204594980345949848E07243667
chr204594987745950586E07243741
chr204595146845951795E07245332
chr204595318645953239E07247050
chr204595334545953450E07247209
chr204595345245953570E07247316
chr204595405945954340E07247923
chr204585960945859763E073-46373
chr204585977245860056E073-46080
chr204587974745879790E073-26346
chr204588699945887101E073-19035
chr204588723445888271E073-17865
chr204588839945888629E073-17507
chr204589179145892759E073-13377
chr204589287045892920E073-13216
chr204589293745892997E073-13139
chr204589650645896587E073-9549
chr204590237345903881E073-2255
chr204590437945904537E073-1599
chr204590457945904684E073-1452
chr204590474445904809E073-1327
chr204590497645905339E073-797
chr204590538845905442E073-694
chr204590559145906375E0730
chr204592466545925170E07318529
chr204592526745925322E07319131
chr204592533745925492E07319201
chr204593262845933777E07326492
chr204593748845937646E07331352
chr204593765745938077E07331521
chr204593936345939763E07333227
chr204593983045939880E07333694
chr204593988445939941E07333748
chr204594014345940200E07334007
chr204594020545940403E07334069
chr204594057445940624E07334438
chr204594069145940819E07334555
chr204594092345941061E07334787
chr204594119845941273E07335062
chr204594132245941393E07335186
chr204594323145943432E07337095
chr204594344145943830E07337305
chr204594391245943987E07337776
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