rs2300588 - SNP

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Select item 23005881.

rs2300588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:91106120 (GRCh38)
12:91499897 (GRCh37)
Canonical SPDI:: NC_000012.12:91106119:C:A,NC_000012.12:91106119:C:G
Gene:: LUM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.064567/8981 (ALFA)
C=0.025/1 (GENOME_DK)
C=0.059118/59 (GoNL)
C=0.059152/265 (Estonian)
C=0.06/36 (NorthernSweden)
C=0.08879/12447 (GnomAD)
C=0.092593/5 (Siberian)
C=0.100193/26520 (TOPMED)
C=0.111111/24 (Qatari)
C=0.139474/10973 (PAGE_STUDY)
C=0.157245/787 (1000Genomes)
C=0.165399/87 (SGDP_PRJ)
C=0.173572/310 (HapMap)
C=0.2853/4782 (TOMMO)
C=0.306769/562 (Korea1K)
C=0.312287/915 (KOREAN)
C=0.401869/86 (Vietnamese)
HGVS:: NC_000012.12:g.91106120C>A, NC_000012.12:g.91106120C>G, NC_000012.11:g.91499897C>A, NC_000012.11:g.91499897C>G

Select item 587822452.

rs58782245 has merged into rs2300588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:91106120 (GRCh38)
12:91499897 (GRCh37)
Canonical SPDI:: NC_000012.12:91106119:C:A,NC_000012.12:91106119:C:G
Gene:: LUM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.064567/8981 (ALFA)
C=0.025/1 (GENOME_DK)
C=0.059118/59 (GoNL)
C=0.059152/265 (Estonian)
C=0.06/36 (NorthernSweden)
C=0.08879/12447 (GnomAD)
C=0.092593/5 (Siberian)
C=0.100193/26520 (TOPMED)
C=0.111111/24 (Qatari)
C=0.139474/10973 (PAGE_STUDY)
C=0.157245/787 (1000Genomes)
C=0.165399/87 (SGDP_PRJ)
C=0.173572/310 (HapMap)
C=0.2853/4782 (TOMMO)
C=0.306769/562 (Korea1K)
C=0.312287/915 (KOREAN)
C=0.401869/86 (Vietnamese)
HGVS:: NC_000012.12:g.91106120C>A, NC_000012.12:g.91106120C>G, NC_000012.11:g.91499897C>A, NC_000012.11:g.91499897C>G