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Human (GRCh38.p14)
Most severe consequence
 
5 prime UTR variant
Alleles
C/G/T|Ancestral: T|Highest population MAF: 0.48
Change tolerance
CADD: G:0.605, T:0.815|GERP: -3.16
Location

Chromosome 5:175443147 (forward strand)|VCF:5  175443147  rs4532  C  G,T

Co-located variants

COSMIC COSV67104360 ; HGMD-PUBLIC CR004740

Evidence status

Clinical significance

HGVS names

This variant has 6 HGVS names - Show

Synonyms

This variant has 8 synonyms - Show

Genotyping chips

This variant has assays on 8 chips - Show

Original source

Variants (including SNPs and indels) imported from dbSNP (release 156)|View in dbSNP

About this variant

This variant has predicted consequences for 2 transcripts, has 3009 sample genotypes, is associated with 3 phenotypes and is mentioned in 172 citations.

Description from SNPedia

Implicated as part of a haplotype of the dopamine D1 receptor DRD1 gene associated with autism spectrum disorders in families having only affected males. The haplotype is rs265981(C)-rs4532(A)-rs686(T) as published, though not necessarily as oriented in dbSNP.[PMID:18205172]