rs2571577

Homo sapiens
T>C
LAMA2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0200 (5994/29902,GnomAD)
C=0188 (5498/29118,TOPMED)
C=0266 (1330/5008,1000G)
C=0194 (747/3854,ALSPAC)
C=0200 (741/3708,TWINSUK)
chr6:129476939 (GRCh38.p7) (6q22.33)
AD
GWASdb2
2   publication(s)
See rs on genome
58 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.129476939T>C
GRCh37.p13 chr 6NC_000006.11:g.129798084T>C
LAMA2 RefSeqGene LRG_409

Gene: LAMA2, laminin subunit alpha 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LAMA2 transcript variant 1NM_000426.3:c.N/AIntron Variant
LAMA2 transcript variant 2NM_001079823.1:c.N/AIntron Variant
LAMA2 transcript variant X1XM_005266981.3:c.N/AIntron Variant
LAMA2 transcript variant X3XM_005266982.3:c.N/AIntron Variant
LAMA2 transcript variant X2XM_011535820.2:c.N/AIntron Variant
LAMA2 transcript variant X4XM_017010851.1:c.N/AIntron Variant
LAMA2 transcript variant X5XM_017010852.1:c.N/AIntron Variant
LAMA2 transcript variant X6XM_017010853.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.800C=0.200
1000GenomesAmericanSub694T=0.710C=0.290
1000GenomesEast AsianSub1008T=0.697C=0.303
1000GenomesEuropeSub1006T=0.802C=0.198
1000GenomesGlobalStudy-wide5008T=0.734C=0.266
1000GenomesSouth AsianSub978T=0.630C=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.806C=0.194
The Genome Aggregation DatabaseAfricanSub8708T=0.810C=0.190
The Genome Aggregation DatabaseAmericanSub836T=0.740C=0.260
The Genome Aggregation DatabaseEast AsianSub1588T=0.684C=0.316
The Genome Aggregation DatabaseEuropeSub18468T=0.806C=0.193
The Genome Aggregation DatabaseGlobalStudy-wide29902T=0.799C=0.200
The Genome Aggregation DatabaseOtherSub302T=0.850C=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.811C=0.188
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.800C=0.200
PMID Title Author Journal
22054870A genome-wide scan for common variants affecting the rate of age-related cognitive decline.De Jager PLNeurobiol Aging
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs25715770.000705alcohol dependence21314694

eQTL of rs2571577 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 rs2571577 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 )
chr6129794891129795122E067-2962
chr6129796159129796257E067-1827
chr6129796559129796957E067-1127
chr6129806757129806851E0678673
chr6129806966129807116E0678882
chr6129807183129807278E0679099
chr6129819718129821009E06721634
chr6129822060129823329E06723976
chr6129806757129806851E0688673
chr6129806966129807116E0688882
chr6129807183129807278E0689099
chr6129811314129812832E06813230
chr6129822060129823329E06823976
chr6129796159129796257E069-1827
chr6129796559129796957E069-1127
chr6129806757129806851E0698673
chr6129806966129807116E0698882
chr6129807183129807278E0699099
chr6129819718129821009E06921634
chr6129821066129821565E06922982
chr6129822060129823329E06923976
chr6129796559129796957E071-1127
chr6129796996129797411E071-673
chr6129806757129806851E0718673
chr6129806966129807116E0718882
chr6129807183129807278E0719099
chr6129808117129808200E07110033
chr6129811314129812832E07113230
chr6129819718129821009E07121634
chr6129822060129823329E07123976
chr6129796559129796957E072-1127
chr6129806757129806851E0728673
chr6129806966129807116E0728882
chr6129807183129807278E0729099
chr6129808117129808200E07210033
chr6129819718129821009E07221634
chr6129822060129823329E07223976
chr6129806757129806851E0738673
chr6129806966129807116E0738882
chr6129807183129807278E0739099
chr6129808117129808200E07310033
chr6129811314129812832E07313230
chr6129819718129821009E07321634
chr6129822060129823329E07323976
chr6129796996129797411E074-673
chr6129806757129806851E0748673
chr6129806966129807116E0748882
chr6129807183129807278E0749099
chr6129808117129808200E07410033
chr6129819718129821009E07421634
chr6129822060129823329E08123976
chr6129796159129796257E082-1827
chr6129796559129796957E082-1127
chr6129822060129823329E08223976
chr6129823408129823966E08225324
chr6129824056129824310E08225972
chr6129824368129824757E08226284
chr6129824985129825100E08226901