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Select item 20001.

rs2000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173488695 (GRCh38)
1:173457834 (GRCh37)
Canonical SPDI:: NC_000001.11:173488694:G:A
Gene:: PRDX6 (Varview), LOC124904456 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.028295/1204 (ALFA)
A=0.009202/3 (HapMap)
A=0.010982/55 (1000Genomes)
A=0.011555/74 (1000Genomes_30X)
A=0.02004/20 (GoNL)
A=0.020081/2998 (GnomAD_genomes)
A=0.02093/5540 (TOPMED)
A=0.024501/27 (Daghestan)
A=0.026116/117 (Estonian)
A=0.028047/104 (TWINSUK)
A=0.028333/17 (NorthernSweden)
A=0.033472/129 (ALSPAC)
A=0.064815/14 (Qatari)
A=0.075/3 (GENOME_DK)
G=0.5/8 (SGDP_PRJ)
HGVS:: NC_000001.11:g.173488695G>A, NC_000001.10:g.173457834G>A, NM_004905.3:c.*832G>A, NM_004905.2:c.*832G>A

dbSNP