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

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

dbSNP build 150 rs149459628

dbSNP: rs149459628
Position: chr1:11144729-11144729
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:	chr1:10603766-10603766
Orangutan allele:	G	Orangutan strand:	-	Orangutan position:	chr1:219203374-219203374
Macaque allele:	G	Macaque strand:	+	Macaque position:	chr1:10413202-10413202

Class	single
Validation	by-cluster
Function	synonymous_variant, downstream_gene_variant, nc_transcript_variant
Molecule Type	genomic
Average Heterozygosity	0.000 +/- 0.003
Weight	1
Submitter Handles	EVA_EXAC, YSAMUELS
Allele Frequencies	A: 0.001% (1 / 121088); G: 99.999% (121087 / 121088)

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: