rs981794

Homo sapiens
A>G
MIPOL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0416 (12458/29942,GnomAD)
G=0388 (11306/29118,TOPMED)
G=0380 (1905/5008,1000G)
G=0465 (1794/3854,ALSPAC)
G=0454 (1685/3708,TWINSUK)
chr14:37571550 (GRCh38.p7) (14q21.1)
ND
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.37571550A>G
GRCh37.p13 chr 14NC_000014.8:g.38040755A>G

Gene: MIPOL1, mirror-image polydactyly 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MIPOL1 transcript variant 1NM_001195296.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant 2NM_001195297.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant 3NM_138731.6:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X16XM_011536463.2:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X31XM_011536467.2:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X1XM_017020991.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X2XM_017020992.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X3XM_017020993.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X4XM_017020994.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X5XM_017020995.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X6XM_017020996.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X7XM_017020997.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X8XM_017020998.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X9XM_017020999.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X10XM_017021000.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X11XM_017021001.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X12XM_017021002.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X13XM_017021003.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X14XM_017021004.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X15XM_017021005.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X18XM_017021006.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X20XM_017021007.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X21XM_017021008.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X22XM_017021009.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X23XM_017021010.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X23XM_017021011.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X26XM_017021012.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X27XM_017021013.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X28XM_017021014.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X27XM_017021015.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X30XM_017021016.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X32XM_017021017.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X33XM_017021018.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X34XM_017021019.1:c.N/AGenic Downstream Transcript Variant
MIPOL1 transcript variant X19XR_001750159.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.769G=0.231
1000GenomesAmericanSub694A=0.510G=0.490
1000GenomesEast AsianSub1008A=0.517G=0.483
1000GenomesEuropeSub1006A=0.541G=0.459
1000GenomesGlobalStudy-wide5008A=0.620G=0.380
1000GenomesSouth AsianSub978A=0.680G=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.535G=0.465
The Genome Aggregation DatabaseAfricanSub8716A=0.730G=0.270
The Genome Aggregation DatabaseAmericanSub836A=0.530G=0.470
The Genome Aggregation DatabaseEast AsianSub1614A=0.445G=0.555
The Genome Aggregation DatabaseEuropeSub18474A=0.530G=0.469
The Genome Aggregation DatabaseGlobalStudy-wide29942A=0.583G=0.416
The Genome Aggregation DatabaseOtherSub302A=0.550G=0.450
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.611G=0.388
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.546G=0.454
PMID Title Author Journal
22377092ANAPC1 and SLCO3A1 are associated with nicotine dependence: meta-analysis of genome-wide association studies.Wang KSDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs9817949.64E-05nicotine dependence (smoking)22377092

eQTL of rs981794 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 rs981794 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 )
chr143801588838016323E071-24432
chr143801588838016323E074-24432


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr143808017238080257E06839417
chr143808036738080629E06839612
chr143808069338080869E06839938
chr143808097738081034E06840222
chr143807991938080060E08239164
chr143808011238080170E08239357
chr143808017238080257E08239417