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

dbSNP build 150 rs587777893

dbSNP: rs587777893
Position: chr1:11128107-11128107
Band: 1p36.22
Genomic Size: 1
View DNA for this feature (hg38/Human)

Summary: C>A/C (chimp allele displayed first, then '>', then human alleles)
Strand: -
Observed: A/C
Reference allele: C
Chimp allele: C    Chimp strand: -    Chimp position:  chr1:10587094-10587094
Orangutan allele: C    Orangutan strand: +    Orangutan position:  chr1:219220158-219220158
Macaque allele: C    Macaque strand: -    Macaque position:  chr1:10397797-10397797

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: