Simple Nucleotide Polymorphisms (dbSNP 150) Found in >= 1% of Samples
 

dbSNP build 150 rs17848553

dbSNP: rs17848553
Position: chr1:11130673-11130673
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:  chr1:10589662-10589662
Orangutan allele: C    Orangutan strand: +    Orangutan position:  chr1:219217590-219217590
Macaque allele: T    Macaque strand: -    Macaque position:  chr1:10400438-10400438

Classsingle
Validationby-cluster,by-frequency,by-1000genomes
Functionsynonymous_variant, nc_transcript_variant
Molecule Type  genomic
Average Heterozygosity  0.058 +/- 0.160
Weight1
Submitter Handles  1000GENOMES, BUSHMAN, CANCER-GENOME, EVA_EXAC, EVA_MGP, EVA_UK10K_ALSPAC, EVA_UK10K_TWINSUK, HUMAN_LONGEVITY, ILLUMINA, IMCJ-GDT, JJLAB, JMKIDD_LAB, NHLBI-ESP, SEATTLESEQ, SSMP, TISHKOFF, TOPMED, WEILL_CORNELL_DGM, WIPGA
Allele Frequencies  C: 96.907% (96068 / 99134); T: 3.093% (3066 / 99134)

Miscellaneous properties annotated by dbSNP:
Minor Allele Frequency is at least 5% in at least one population assayed

Coding annotations by dbSNP: