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

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dbSNP build 150 rs28990992

dbSNP: rs28990992
Position: chr1:11189732-11189732
Band: 1p36.22
Genomic Size: 1
View DNA for this feature (hg38/Human)

Summary: G>C/G (chimp allele displayed first, then '>', then human alleles)
Strand: +
Observed: C/G

Reference allele:	G
Chimp allele:	G	Chimp strand:	+	Chimp position:	chr1:10648806-10648806
Orangutan allele:	G	Orangutan strand:	-	Orangutan position:	chr1:219156136-219156136
Macaque allele:	G	Macaque strand:	+	Macaque position:	chr1:10451532-10451532

Class	single
Validation	by-cluster,by-frequency,by-1000genomes
Function	intron_variant, nc_transcript_variant, missense_variant
Molecule Type	genomic
Average Heterozygosity	0.048 +/- 0.147
Weight	1
Submitter Handles	1000GENOMES, AMU, BUSHMAN, CLINSEQ_SNP, EGP_SNPS, EVA_EXAC, EVA_MGP, EVA_UK10K_ALSPAC, EVA_UK10K_TWINSUK, EXOME_CHIP, GENOMED, HUMAN_LONGEVITY, ILLUMINA, JJLAB, JMKIDD_LAB, NHLBI-ESP, SEATTLESEQ, SSMP, TISHKOFF, TOPMED, WEILL_CORNELL_DGM
Allele Frequencies	C: 2.573% (3243 / 126050); G: 97.427% (122807 / 126050)

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

Coding annotations by dbSNP: