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

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dbSNP build 150 rs12057383

dbSNP: rs12057383
Position: chr1:11661264-11661264
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:	chr1:11134977-11134977
Orangutan allele:	G	Orangutan strand:	-	Orangutan position:	chr1:218645059-218645059
Macaque allele:	G	Macaque strand:	+	Macaque position:	chr1:10921592-10921592

Class	single
Validation	by-cluster,by-frequency,by-1000genomes
Function	synonymous_variant, nc_transcript_variant, missense_variant
Molecule Type	genomic
Average Heterozygosity	0.054 +/- 0.155
Weight	1
Submitter Handles	1000GENOMES, APPLERA_GI, CLINSEQ_SNP, EVA-GONL, EVA_EXAC, EVA_FINRISK, EVA_MGP, EVA_UK10K_ALSPAC, EVA_UK10K_TWINSUK, EXOME_CHIP, HAMMER_LAB, HGSV, HUMAN_LONGEVITY, ILLUMINA, ILLUMINA-UK, NHLBI-ESP, PJP, SC_SNP, SEATTLESEQ, SSMP, TISHKOFF, TOPMED, WEILL_CORNELL_DGM
Allele Frequencies	A: 2.989% (3769 / 126086); G: 97.011% (122317 / 126086)

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

Coding annotations by dbSNP: