rs910380

Homo sapiens
T>C
TSHZ2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0381 (11395/29864,GnomAD)
T==0367 (10688/29118,TOPMED)
T==0320 (1601/5008,1000G)
T==0447 (1722/3854,ALSPAC)
T==0440 (1631/3708,TWINSUK)
chr20:53032939 (GRCh38.p7) (20q13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
24 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.53032939T>C
GRCh37.p13 chr 20NC_000020.10:g.51649478T>C

Gene: TSHZ2, teashirt zinc finger homeobox 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TSHZ2 transcript variant 1NM_173485.5:c.N/AIntron Variant
TSHZ2 transcript variant 2NM_001193421.1:c.N/AGenic Upstream Transcript Variant
TSHZ2 transcript variant X1XM_017027640.1:c.N/AIntron Variant
TSHZ2 transcript variant X2XM_017027641.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.286C=0.714
1000GenomesAmericanSub694T=0.480C=0.520
1000GenomesEast AsianSub1008T=0.139C=0.861
1000GenomesEuropeSub1006T=0.400C=0.600
1000GenomesGlobalStudy-wide5008T=0.320C=0.680
1000GenomesSouth AsianSub978T=0.350C=0.650
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.447C=0.553
The Genome Aggregation DatabaseAfricanSub8700T=0.321C=0.679
The Genome Aggregation DatabaseAmericanSub836T=0.430C=0.570
The Genome Aggregation DatabaseEast AsianSub1616T=0.149C=0.851
The Genome Aggregation DatabaseEuropeSub18410T=0.426C=0.573
The Genome Aggregation DatabaseGlobalStudy-wide29864T=0.381C=0.618
The Genome Aggregation DatabaseOtherSub302T=0.480C=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.367C=0.632
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.440C=0.560
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs9103802.77E-05alcohol consumptionpha001401

eQTL of rs910380 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 rs910380 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 )
chr205161946651619601E070-29877
chr205161969751619750E070-29728
chr205161986851620325E070-29153
chr205162047051620584E070-28894
chr205162088751621171E070-28307
chr205162194651621990E070-27488
chr205165696951657035E0707491
chr205165713751657943E0707659
chr205168716751687308E07037689
chr205168731151687477E07037833
chr205165713751657943E0747659
chr205165798451658170E0748506
chr205161986851620325E081-29153
chr205169202651692245E08142548
chr205169225051692302E08142772
chr205169246451692548E08142986
chr205169262351692722E08143145
chr205169280051692863E08143322
chr205169292251693141E08143444
chr205169330351693519E08143825
chr205169357451693685E08144096
chr205165696951657035E0827491
chr205165713751657943E0827659
chr205165798451658170E0828506