Chromosome 5:175443147 (forward strand)|VCF:5 175443147 rs4532 C G,T
COSMIC COSV67104360 ; HGMD-PUBLIC CR004740
This variant has 6 HGVS names - Show
This variant has 8 synonyms - Show
This variant has assays on 8 chips - Show
Variants (including SNPs and indels) imported from dbSNP (release 156)|View in dbSNP
This variant has predicted consequences for 2 transcripts, has 3009 sample genotypes, is associated with 3 phenotypes and is mentioned in 172 citations.
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]


