rs16867971

Homo sapiens
T>C
GRHL2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0499 (14943/29896,GnomAD)
T==0432 (12604/29118,TOPMED)
T==0461 (2309/5008,1000G)
C=0403 (1553/3854,ALSPAC)
C=0385 (1429/3708,TWINSUK)
chr8:101597228 (GRCh38.p7) (8q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
36 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.101597228T>C
GRCh37.p13 chr 8NC_000008.10:g.102609456T>C
GRHL2 RefSeqGeneNG_011971.1:g.109789T>C

Gene: GRHL2, grainyhead like transcription factor 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GRHL2 transcript variant 1NM_024915.3:c.N/AIntron Variant
GRHL2 transcript variant X1XM_011517305.2:c.N/AIntron Variant
GRHL2 transcript variant X2XM_011517306.2:c.N/AIntron Variant
GRHL2 transcript variant X3XM_011517307.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.141C=0.859
1000GenomesAmericanSub694T=0.510C=0.490
1000GenomesEast AsianSub1008T=0.671C=0.329
1000GenomesEuropeSub1006T=0.621C=0.379
1000GenomesGlobalStudy-wide5008T=0.461C=0.539
1000GenomesSouth AsianSub978T=0.480C=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.597C=0.403
The Genome Aggregation DatabaseAfricanSub8698T=0.186C=0.814
The Genome Aggregation DatabaseAmericanSub834T=0.540C=0.460
The Genome Aggregation DatabaseEast AsianSub1610T=0.647C=0.353
The Genome Aggregation DatabaseEuropeSub18452T=0.632C=0.367
The Genome Aggregation DatabaseGlobalStudy-wide29896T=0.500C=0.499
The Genome Aggregation DatabaseOtherSub302T=0.570C=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.432C=0.567
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.615C=0.385
PMID Title Author Journal
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
rs168679710.000997alcohol dependence21314694

eQTL of rs16867971 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 rs16867971 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 )
chr8102589500102590314E067-19142
chr8102590521102590674E067-18782
chr8102650444102650533E07040988
chr8102650663102651509E07041207
chr8102651752102651812E07042296
chr8102651825102651911E07042369
chr8102585557102588600E081-20856
chr8102588680102589114E081-20342
chr8102589149102589273E081-20183
chr8102589500102590314E081-19142
chr8102597013102597063E081-12393
chr8102597069102597208E081-12248
chr8102597216102597266E081-12190
chr8102597325102597375E081-12081
chr8102597444102597494E081-11962
chr8102597501102597551E081-11905
chr8102598617102598687E081-10769
chr8102598718102598889E081-10567
chr8102598896102599066E081-10390
chr8102600159102600250E081-9206
chr8102600256102600530E081-8926
chr8102600572102601762E081-7694
chr8102615801102616807E0816345
chr8102625262102625445E08115806
chr8102626715102627173E08117259
chr8102627274102627352E08117818
chr8102627486102627631E08118030
chr8102627804102627902E08118348
chr8102628015102628077E08118559
chr8102585557102588600E082-20856
chr8102588680102589114E082-20342
chr8102597216102597266E082-12190
chr8102597325102597375E082-12081
chr8102600256102600530E082-8926
chr8102600572102601762E082-7694
chr8102603413102603613E082-5843