rs11193198

Homo sapiens
G>A
SORCS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0270 (8094/29930,GnomAD)
A=0259 (7554/29118,TOPMED)
A=0207 (1037/5008,1000G)
A=0309 (1189/3854,ALSPAC)
A=0320 (1187/3708,TWINSUK)
chr10:107102209 (GRCh38.p7) (10q25.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.107102209G>A
GRCh37.p13 chr 10NC_000010.10:g.108861967G>A
SORCS1 RefSeqGeneNG_029120.1:g.67500C>T

Gene: SORCS1, sortilin related VPS10 domain containing receptor 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SORCS1 transcript variant 2NM_001013031.2:c.N/AIntron Variant
SORCS1 transcript variant 3NM_001206569.1:c.N/AIntron Variant
SORCS1 transcript variant 4NM_001206570.1:c.N/AIntron Variant
SORCS1 transcript variant 5NM_001206571.1:c.N/AIntron Variant
SORCS1 transcript variant 6NM_001206572.1:c.N/AIntron Variant
SORCS1 transcript variant 1NM_052918.4:c.N/AIntron Variant
SORCS1 transcript variant X2XM_011539199.2:c.N/AIntron Variant
SORCS1 transcript variant X4XM_011539201.2:c.N/AIntron Variant
SORCS1 transcript variant X1XM_017015614.1:c.N/AIntron Variant
SORCS1 transcript variant X3XM_017015615.1:c.N/AIntron Variant
SORCS1 transcript variant X6XM_017015617.1:c.N/AIntron Variant
SORCS1 transcript variant X5XM_017015616.1:c.N/AGenic Upstream Transcript Variant
SORCS1 transcript variant X7XM_017015618.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.817A=0.183
1000GenomesAmericanSub694G=0.760A=0.240
1000GenomesEast AsianSub1008G=0.879A=0.121
1000GenomesEuropeSub1006G=0.660A=0.340
1000GenomesGlobalStudy-wide5008G=0.793A=0.207
1000GenomesSouth AsianSub978G=0.830A=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.691A=0.309
The Genome Aggregation DatabaseAfricanSub8706G=0.815A=0.185
The Genome Aggregation DatabaseAmericanSub838G=0.770A=0.230
The Genome Aggregation DatabaseEast AsianSub1606G=0.879A=0.121
The Genome Aggregation DatabaseEuropeSub18480G=0.677A=0.322
The Genome Aggregation DatabaseGlobalStudy-wide29930G=0.729A=0.270
The Genome Aggregation DatabaseOtherSub300G=0.570A=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.740A=0.259
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.680A=0.320
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
rs111931980.000754alcohol dependence21314694

eQTL of rs11193198 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 rs11193198 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 )
chr10108819082108819209E067-42758
chr10108819261108819447E067-42520
chr10108819546108819590E067-42377
chr10108827664108827807E068-34160
chr10108827881108827943E068-34024
chr10108827989108828053E068-33914
chr10108828196108828256E068-33711
chr10108831194108831303E068-30664
chr10108831417108831504E068-30463
chr10108831861108831966E068-30001
chr10108831995108832203E068-29764
chr10108832549108832602E068-29365
chr10108832647108832838E068-29129
chr10108901418108901614E06839451
chr10108901758108901850E06839791
chr10108831861108831966E069-30001
chr10108831995108832203E069-29764
chr10108831194108831303E070-30664
chr10108831417108831504E070-30463
chr10108831861108831966E070-30001
chr10108831995108832203E070-29764
chr10108832549108832602E070-29365
chr10108832647108832838E070-29129
chr10108862926108864034E070959
chr10108819813108819982E071-41985
chr10108832549108832602E071-29365
chr10108832647108832838E071-29129
chr10108831861108831966E072-30001
chr10108831995108832203E072-29764
chr10108832549108832602E072-29365
chr10108832647108832838E072-29129
chr10108827881108827943E074-34024
chr10108827989108828053E074-33914
chr10108831861108831966E074-30001
chr10108831995108832203E074-29764
chr10108832549108832602E074-29365
chr10108832647108832838E074-29129
chr10108862926108864034E082959