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

dbSNP build 150 rs869312671

dbSNP: rs869312671
Position: chr1:11144735-11144735
Band: 1p36.22
Genomic Size: 1
View DNA for this feature (hg38/Human)

Summary: G>A/G (chimp allele displayed first, then '>', then human alleles)
Strand: -
Observed: A/G
Reference allele: G
Chimp allele: G    Chimp strand: -    Chimp position:  chr1:10603772-10603772
Orangutan allele: G    Orangutan strand: +    Orangutan position:  chr1:219203368-219203368
Macaque allele: G    Macaque strand: -    Macaque position:  chr1:10413208-10413208

Classsingle
Validationunknown
Functiondownstream_gene_variant, nc_transcript_variant, missense_variant
Molecule Type  genomic
Weight1
Submitter Handles  CLINVAR

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

Coding annotations by dbSNP: