rs2376397

Homo sapiens
C>T
NMRK1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0240 (7197/29908,GnomAD)
T=0269 (7859/29118,TOPMED)
T=0240 (1201/5008,1000G)
T=0181 (697/3854,ALSPAC)
T=0187 (694/3708,TWINSUK)
chr9:75075833 (GRCh38.p7) (9q21.13)
AD
GWASdb2
1   publication(s)
See rs on genome
251 Enhancers around
38 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.75075833C>T
GRCh37.p13 chr 9NC_000009.11:g.77690749C>T

Gene: NMRK1, nicotinamide riboside kinase 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
NMRK1 transcript variant 2NM_001127603.1:c.N/AIntron Variant
NMRK1 transcript variant 1NM_017881.2:c.N/AIntron Variant
NMRK1 transcript variant 3NR_023352.1:n.N/AIntron Variant
NMRK1 transcript variant X2XM_006717162.1:c.N/AIntron Variant
NMRK1 transcript variant X6XM_006717163.2:c.N/AIntron Variant
NMRK1 transcript variant X3XM_011518817.1:c.N/AIntron Variant
NMRK1 transcript variant X3XM_011518818.1:c.N/AIntron Variant
NMRK1 transcript variant X9XM_011518819.2:c.N/AIntron Variant
NMRK1 transcript variant X4XM_017014868.1:c.N/AIntron Variant
NMRK1 transcript variant X5XM_017014869.1:c.N/AIntron Variant
NMRK1 transcript variant X7XM_017014870.1:c.N/AIntron Variant
NMRK1 transcript variant X9XM_017014871.1:c.N/AIntron Variant
NMRK1 transcript variant X11XM_017014872.1:c.N/AIntron Variant
NMRK1 transcript variant X12XM_017014873.1:c.N/AIntron Variant
NMRK1 transcript variant X13XM_017014874.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.619T=0.381
1000GenomesAmericanSub694C=0.790T=0.210
1000GenomesEast AsianSub1008C=0.843T=0.157
1000GenomesEuropeSub1006C=0.788T=0.212
1000GenomesGlobalStudy-wide5008C=0.760T=0.240
1000GenomesSouth AsianSub978C=0.810T=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.819T=0.181
The Genome Aggregation DatabaseAfricanSub8686C=0.650T=0.350
The Genome Aggregation DatabaseAmericanSub832C=0.790T=0.210
The Genome Aggregation DatabaseEast AsianSub1606C=0.780T=0.220
The Genome Aggregation DatabaseEuropeSub18482C=0.808T=0.192
The Genome Aggregation DatabaseGlobalStudy-wide29908C=0.759T=0.240
The Genome Aggregation DatabaseOtherSub302C=0.730T=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.730T=0.269
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.813T=0.187
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs23763971.1E-05alcoholism (heaviness of drinking)21529783

eQTL of rs2376397 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 rs2376397 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 )
chr97769808677698749E0677337
chr97770034877700401E0679599
chr97770045577700577E0679706
chr97770061077701142E0679861
chr97770555177705628E06714802
chr97770576477705951E06715015
chr97770624377706742E06715494
chr97770694477706994E06716195
chr97770701077707199E06716261
chr97770882177709033E06718072
chr97770939477709480E06718645
chr97770950377709553E06718754
chr97770964777709712E06718898
chr97770977377709823E06719024
chr97770987277709922E06719123
chr97771000577710813E06719256
chr97771153177711645E06720782
chr97771175277711812E06721003
chr97771183277711990E06721083
chr97771882477718945E06728075
chr97771896577719015E06728216
chr97771905377719153E06728304
chr97771916177719266E06728412
chr97771963077719730E06728881
chr97772004577720271E06729296
chr97772262777722794E06731878
chr97772286977722975E06732120
chr97772602777726847E06735278
chr97772697377727027E06736224
chr97772721477727264E06736465
chr97772743277727482E06736683
chr97772761877727662E06736869
chr97772772477728067E06736975
chr97772811777728248E06737368
chr97772855277728603E06737803
chr97772878477728834E06738035
chr97772886077729054E06738111
chr97773119177731241E06740442
chr97773133677731496E06740587
chr97773157377731640E06740824
chr97773941977739605E06748670
chr97773980877739881E06749059
chr97774038977740460E06749640
chr97770017377700325E0689424
chr97770034877700401E0689599
chr97770045577700577E0689706
chr97770061077701142E0689861
chr97770555177705628E06814802
chr97770576477705951E06815015
chr97770624377706742E06815494
chr97770694477706994E06816195
chr97770701077707199E06816261
chr97770762677707799E06816877
chr97770882177709033E06818072
chr97770939477709480E06818645
chr97770950377709553E06818754
chr97771839977718439E06827650
chr97771882477718945E06828075
chr97771896577719015E06828216
chr97771905377719153E06828304
chr97771916177719266E06828412
chr97771963077719730E06828881
chr97772004577720271E06829296
chr97772029777721066E06829548
chr97772262777722794E06831878
chr97772761877727662E06836869
chr97772772477728067E06836975
chr97772811777728248E06837368
chr97773119177731241E06840442
chr97773133677731496E06840587
chr97773157377731640E06840824
chr97773980877739881E06849059
chr97769795677698006E0697207
chr97769808677698749E0697337
chr97769886277699198E0698113
chr97769924777699683E0698498
chr97769979477699888E0699045
chr97770017377700325E0699424
chr97770034877700401E0699599
chr97770045577700577E0699706
chr97770061077701142E0699861
chr97770555177705628E06914802
chr97770576477705951E06915015
chr97770624377706742E06915494
chr97770694477706994E06916195
chr97770701077707199E06916261
chr97771000577710813E06919256
chr97771153177711645E06920782
chr97771175277711812E06921003
chr97771183277711990E06921083
chr97771905377719153E06928304
chr97771916177719266E06928412
chr97771963077719730E06928881
chr97772004577720271E06929296
chr97772029777721066E06929548
chr97772501177725119E06934262
chr97772584177725891E06935092
chr97772743277727482E06936683
chr97772761877727662E06936869
chr97772772477728067E06936975
chr97773941977739605E06948670
chr97773980877739881E06949059
chr97774038977740460E06949640
chr97768429477684586E070-6163
chr97768489677684953E070-5796
chr97769766377697717E0716914
chr97769795677698006E0717207
chr97769808677698749E0717337
chr97769886277699198E0718113
chr97769924777699683E0718498
chr97769979477699888E0719045
chr97770017377700325E0719424
chr97770034877700401E0719599
chr97770045577700577E0719706
chr97770061077701142E0719861
chr97770555177705628E07114802
chr97770576477705951E07115015
chr97770624377706742E07115494
chr97770694477706994E07116195
chr97770701077707199E07116261
chr97770977377709823E07119024
chr97770987277709922E07119123
chr97771000577710813E07119256
chr97771512477715287E07124375
chr97771882477718945E07128075
chr97771896577719015E07128216
chr97771905377719153E07128304
chr97771916177719266E07128412
chr97771963077719730E07128881
chr97772004577720271E07129296
chr97772029777721066E07129548
chr97772149377721543E07130744
chr97772177077722506E07131021
chr97772262777722794E07131878
chr97772428777724337E07133538
chr97772438077724473E07133631
chr97772447577724664E07133726
chr97772697377727027E07136224
chr97772721477727264E07136465
chr97772743277727482E07136683
chr97772761877727662E07136869
chr97772772477728067E07136975
chr97772811777728248E07137368
chr97772855277728603E07137803
chr97772878477728834E07138035
chr97772886077729054E07138111
chr97773119177731241E07140442
chr97773133677731496E07140587
chr97773157377731640E07140824
chr97773941977739605E07148670
chr97773980877739881E07149059
chr97764095877641008E072-49741
chr97769886277699198E0728113
chr97769924777699683E0728498
chr97769979477699888E0729045
chr97770555177705628E07214802
chr97770576477705951E07215015
chr97770694477706994E07216195
chr97770701077707199E07216261
chr97770762677707799E07216877
chr97770977377709823E07219024
chr97770987277709922E07219123
chr97771000577710813E07219256
chr97771882477718945E07228075
chr97771896577719015E07228216
chr97771905377719153E07228304
chr97771916177719266E07228412
chr97771963077719730E07228881
chr97772004577720271E07229296
chr97772029777721066E07229548
chr97772177077722506E07231021
chr97772262777722794E07231878
chr97772447577724664E07233726
chr97772501177725119E07234262
chr97772743277727482E07236683
chr97772761877727662E07236869
chr97772772477728067E07236975
chr97772811777728248E07237368
chr97773119177731241E07240442
chr97773133677731496E07240587
chr97773157377731640E07240824
chr97773734377737393E07246594
chr97773747877737577E07246729
chr97773941977739605E07248670
chr97773980877739881E07249059
chr97767894977679159E073-11590
chr97770555177705628E07314802
chr97770576477705951E07315015
chr97770624377706742E07315494
chr97770694477706994E07316195
chr97770701077707199E07316261
chr97771000577710813E07319256
chr97772262777722794E07331878
chr97772855277728603E07337803
chr97772878477728834E07338035
chr97772886077729054E07338111
chr97769795677698006E0747207
chr97769808677698749E0747337
chr97769886277699198E0748113
chr97769924777699683E0748498
chr97770034877700401E0749599
chr97770045577700577E0749706
chr97770061077701142E0749861
chr97770624377706742E07415494
chr97770694477706994E07416195
chr97770701077707199E07416261
chr97770762677707799E07416877
chr97770819477708239E07417445
chr97770837077708420E07417621
chr97770849977708549E07417750
chr97770882177709033E07418072
chr97770939477709480E07418645
chr97770950377709553E07418754
chr97770964777709712E07418898
chr97770977377709823E07419024
chr97770987277709922E07419123
chr97771000577710813E07419256
chr97771583977716471E07425090
chr97771896577719015E07428216
chr97771905377719153E07428304
chr97771916177719266E07428412
chr97771963077719730E07428881
chr97772004577720271E07429296
chr97772029777721066E07429548
chr97772177077722506E07431021
chr97772262777722794E07431878
chr97772438077724473E07433631
chr97772447577724664E07433726
chr97772501177725119E07434262
chr97772531277725352E07434563
chr97772538277725503E07434633
chr97772697377727027E07436224
chr97772721477727264E07436465
chr97772743277727482E07436683
chr97772855277728603E07437803
chr97772878477728834E07438035
chr97772886077729054E07438111
chr97773119177731241E07440442
chr97773133677731496E07440587
chr97773157377731640E07440824
chr97773643377736544E07445684
chr97773660777736798E07445858
chr97773681177736901E07446062
chr97773697177737336E07446222
chr97773734377737393E07446594
chr97773747877737577E07446729
chr97773824777738303E07447498
chr97773941977739605E07448670
chr97773980877739881E07449059
chr97764400977644311E081-46438
chr97767924177679895E081-10854









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr97764189877643913E067-46836
chr97770150077701858E06710751
chr97770196677704670E06711217
chr97770475577704987E06714006
chr97764189877643913E068-46836
chr97770196677704670E06811217
chr97770475577704987E06814006
chr97773835877738461E06847609
chr97773864377738975E06847894
chr97764189877643913E069-46836
chr97770196677704670E06911217
chr97770475577704987E06914006
chr97773864377738975E06947894
chr97764189877643913E070-46836
chr97770196677704670E07011217
chr97764189877643913E071-46836
chr97770196677704670E07111217
chr97770475577704987E07114006
chr97773835877738461E07147609
chr97773864377738975E07147894
chr97764189877643913E072-46836
chr97770150077701858E07210751
chr97770196677704670E07211217
chr97770475577704987E07214006
chr97764189877643913E073-46836
chr97770150077701858E07310751
chr97770196677704670E07311217
chr97770475577704987E07314006
chr97764189877643913E074-46836
chr97770196677704670E07411217
chr97770475577704987E07414006
chr97773835877738461E07447609
chr97773864377738975E07447894
chr97764189877643913E081-46836
chr97770150077701858E08110751
chr97764189877643913E082-46836
chr97770150077701858E08210751
chr97770196677704670E08211217