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

dbSNP build 150 rs786205165

dbSNP: rs786205165
Position: chr1:11157173-11157173
Band: 1p36.22
Genomic Size: 1
View DNA for this feature (hg38/Human)

Summary: G>G/T (chimp allele displayed first, then '>', then human alleles)
Strand: -
Observed: G/T
Reference allele: G
Chimp allele: G    Chimp strand: -    Chimp position:  chr1:10616209-10616209
Orangutan allele: G    Orangutan strand: +    Orangutan position:  chr1:219191106-219191106
Macaque allele: G    Macaque strand: -    Macaque position:  chr1:10425851-10425851

Classsingle
Validationunknown
Functionnc_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 was submitted by Locus-Specific Database

Coding annotations by dbSNP: