rs12523436

Homo sapiens
C>T
NIM1K : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0239 (7152/29912,GnomAD)
T=0239 (6985/29118,TOPMED)
T=0188 (942/5008,1000G)
T=0284 (1095/3854,ALSPAC)
T=0299 (1109/3708,TWINSUK)
chr5:43276367 (GRCh38.p7) (5p12)
AD
GWASdb2
1   publication(s)
See rs on genome
74 Enhancers around
13 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.43276367C>T
GRCh37.p13 chr 5NC_000005.9:g.43276469C>T

Gene: NIM1K, NIM1 serine/threonine protein kinase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NIM1K transcript variant 1NM_153361.3:c.N/AIntron Variant
NIM1K transcript variant 2NR_072980.1:n.N/AIntron Variant
NIM1K transcript variant X1XM_006714450.1:c.N/AIntron Variant
NIM1K transcript variant X4XM_006714451.1:c.N/AIntron Variant
NIM1K transcript variant X2XM_017009164.1:c.N/AIntron Variant
NIM1K transcript variant X3XM_017009165.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.829T=0.171
1000GenomesAmericanSub694C=0.710T=0.290
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.707T=0.293
1000GenomesGlobalStudy-wide5008C=0.812T=0.188
1000GenomesSouth AsianSub978C=0.780T=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.716T=0.284
The Genome Aggregation DatabaseAfricanSub8698C=0.824T=0.176
The Genome Aggregation DatabaseAmericanSub836C=0.690T=0.310
The Genome Aggregation DatabaseEast AsianSub1612C=0.998T=0.002
The Genome Aggregation DatabaseEuropeSub18464C=0.715T=0.284
The Genome Aggregation DatabaseGlobalStudy-wide29912C=0.760T=0.239
The Genome Aggregation DatabaseOtherSub302C=0.640T=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.760T=0.239
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.701T=0.299
PMID Title Author Journal
22072270Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms.Wang KSJ Neural Transm (Vienna)

P-Value

SNP ID p-value Traits Study
rs125234361.7E-05alcohol withdrawal symptoms22072270

eQTL of rs12523436 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 rs12523436 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 )
chr54330266543303089E06726196
chr54330333343303377E06726864
chr54330606743306571E06729598
chr54330777643307820E06731307
chr54330784543307937E06731376
chr54330974943310204E06733280
chr54331023243310448E06733763
chr54331061843310663E06734149
chr54331096943311019E06734500
chr54331104543311148E06734576
chr54325675043256853E068-19616
chr54330606743306571E06829598
chr54331023243310448E06833763
chr54330266543303089E06926196
chr54330606743306571E06929598
chr54330777643307820E06931307
chr54330784543307937E06931376
chr54330974943310204E06933280
chr54330266543303089E07026196
chr54330873343308839E07032264
chr54330925143309298E07032782
chr54330937743309463E07032908
chr54323216843232324E071-44145
chr54330266543303089E07126196
chr54330333343303377E07126864
chr54330341943303546E07126950
chr54330359343303660E07127124
chr54330606743306571E07129598
chr54330974943310204E07133280
chr54331023243310448E07133763
chr54330179543302212E07225326
chr54330266543303089E07226196
chr54330333343303377E07226864
chr54330341943303546E07226950
chr54330359343303660E07227124
chr54330399343304053E07227524
chr54330873343308839E07232264
chr54330925143309298E07232782
chr54330937743309463E07232908
chr54330974943310204E07233280
chr54330179543302212E07325326
chr54330266543303089E07326196
chr54330333343303377E07326864
chr54330341943303546E07326950
chr54330359343303660E07327124
chr54323216843232324E074-44145
chr54323311843233303E074-43166
chr54330266543303089E07426196
chr54330333343303377E07426864
chr54330341943303546E07426950
chr54330359343303660E07427124
chr54330399343304053E07427524
chr54330606743306571E07429598
chr54330042643300502E08123957
chr54330054843300644E08124079
chr54330179543302212E08125326
chr54330266543303089E08126196
chr54330333343303377E08126864
chr54330341943303546E08126950
chr54330359343303660E08127124
chr54330399343304053E08127524
chr54330784543307937E08131376
chr54330873343308839E08132264
chr54330925143309298E08132782
chr54330937743309463E08132908
chr54330974943310204E08133280
chr54331061843310663E08134149
chr54330179543302212E08225326
chr54330266543303089E08226196
chr54330333343303377E08226864
chr54330341943303546E08226950
chr54330359343303660E08227124
chr54331487143315060E08238402
chr54331512243315218E08238653










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr54331266643314742E06736197
chr54331266643314742E06836197
chr54331266643314742E06936197
chr54331140843311452E07034939
chr54331266643314742E07036197
chr54331266643314742E07136197
chr54331266643314742E07236197
chr54331266643314742E07336197
chr54331266643314742E07436197
chr54331140843311452E08134939
chr54331266643314742E08136197
chr54331140843311452E08234939
chr54331266643314742E08236197