Simple Nucleotide Polymorphisms (dbSNP 150) Flagged by dbSNP as Clinically Assoc
 

dbSNP build 150 rs587777894

dbSNP: rs587777894
Position: chr1:11124516-11124516
Band: 1p36.22
Genomic Size: 1
View DNA for this feature (hg38/Human)

Summary: C>C/T (chimp allele displayed first, then '>', then human alleles)
Strand: -
Observed: C/T
Reference allele: C
Chimp allele: C    Chimp strand: -    Chimp position:  chr1:10583511-10583511
Orangutan allele: C    Orangutan strand: +    Orangutan position:  chr1:219223766-219223766
Macaque allele: C    Macaque strand: -    Macaque position:  chr1:10394252-10394252

Classsingle
Validationby-cluster
Functionnc_transcript_variant, missense_variant
Molecule Type  genomic
Weight1
Submitter Handles  CLINVAR, JHLEELAB

Miscellaneous properties annotated by dbSNP:
SNP is in OMIM/OMIA and/or at least one submitter is a Locus-Specific Database ("clinically associated")
SNP was submitted by Locus-Specific Database

Coding annotations by dbSNP: