rs6049811

Homo sapiens
T>C / T>G
SYNDIG1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0307 (9190/29936,GnomAD)
G=0279 (8136/29118,TOPMED)
G=0284 (1421/5008,1000G)
G=0376 (1450/3854,ALSPAC)
G=0369 (1368/3708,TWINSUK)
chr20:24609154 (GRCh38.p7) (20p11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.24609154T>C
GRCh38.p7 chr 20NC_000020.11:g.24609154T>G
GRCh37.p13 chr 20NC_000020.10:g.24589790T>C
GRCh37.p13 chr 20NC_000020.10:g.24589790T>G

Gene: SYNDIG1, synapse differentiation inducing 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SYNDIG1 transcript variant 2NM_001323606.1:c.N/AIntron Variant
SYNDIG1 transcript variant 3NM_001323607.1:c.N/AIntron Variant
SYNDIG1 transcript variant 1NM_024893.2:c.N/AIntron Variant
SYNDIG1 transcript variant X1XM_011529347.2:c.N/AIntron Variant
SYNDIG1 transcript variant X2XM_011529348.2:c.N/AIntron Variant
SYNDIG1 transcript variant X3XM_011529349.2:c.N/AIntron Variant
SYNDIG1 transcript variant X4XM_011529350.1:c.N/AIntron Variant
SYNDIG1 transcript variant X5XM_011529351.1:c.N/AIntron Variant
SYNDIG1 transcript variant X6XM_011529352.2:c.N/AIntron Variant
SYNDIG1 transcript variant X8XM_011529353.2:c.N/AIntron Variant
SYNDIG1 transcript variant X7XM_011529354.2:c.N/AIntron Variant
SYNDIG1 transcript variant X16XM_011529356.2:c.N/AIntron Variant
SYNDIG1 transcript variant X17XM_011529358.2:c.N/AIntron Variant
SYNDIG1 transcript variant X9XM_017028064.1:c.N/AIntron Variant
SYNDIG1 transcript variant X10XM_017028065.1:c.N/AIntron Variant
SYNDIG1 transcript variant X11XM_017028066.1:c.N/AIntron Variant
SYNDIG1 transcript variant X12XM_017028067.1:c.N/AIntron Variant
SYNDIG1 transcript variant X13XM_017028068.1:c.N/AIntron Variant
SYNDIG1 transcript variant X18XM_017028069.1:c.N/AGenic Downstream Transcript Variant
SYNDIG1 transcript variant X15XR_001754402.1:n.N/AIntron Variant
SYNDIG1 transcript variant X14XR_937144.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.848G=0.152
1000GenomesAmericanSub694T=0.560G=0.440
1000GenomesEast AsianSub1008T=0.804G=0.196
1000GenomesEuropeSub1006T=0.636G=0.364
1000GenomesGlobalStudy-wide5008T=0.716G=0.284
1000GenomesSouth AsianSub978T=0.640G=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.624G=0.376
The Genome Aggregation DatabaseAfricanSub8706T=0.786G=0.214
The Genome Aggregation DatabaseAmericanSub838T=0.470G=0.53,
The Genome Aggregation DatabaseEast AsianSub1618T=0.833G=0.167
The Genome Aggregation DatabaseEuropeSub18472T=0.646G=0.354
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.693G=0.307
The Genome Aggregation DatabaseOtherSub302T=0.750G=0.25,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.720G=0.279
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.631G=0.369
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
rs60498110.000971alcohol dependence21314694

eQTL of rs6049811 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 rs6049811 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.