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

dbSNP build 150 rs7514198

dbSNP: rs7514198
Position: chr1:11668895-11668895
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:  chr1:11142282-11142282
Orangutan allele: C    Orangutan strand: -    Orangutan position:  chr1:218637103-218637103
Macaque allele: C    Macaque strand: +    Macaque position:  chr1:10930020-10930020

Classsingle
Validationby-cluster,by-frequency,by-1000genomes
Functionsynonymous_variant
Molecule Type  genomic
Average Heterozygosity  0.139 +/- 0.224
Weight1
Submitter Handles  1000GENOMES, CLINSEQ_SNP, CORNELL, EVA-GONL, EVA_DECODE, EVA_EXAC, EVA_FINRISK, EVA_GENOME_DK, EVA_MGP, EVA_UK10K_ALSPAC, EVA_UK10K_TWINSUK, GENOMED, HAMMER_LAB, HUMAN_LONGEVITY, ILLUMINA, ILLUMINA-UK, JJLAB, JMKIDD_LAB, NHLBI-ESP, SEATTLESEQ, SSMP, TISHKOFF, TOPMED, USC_VALOUEV, WEILL_CORNELL_DGM, WI_SSAHASNP
Allele Frequencies  C: 92.450% (116624 / 126148); T: 7.550% (9524 / 126148)

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

Coding annotations by dbSNP: