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Select item 52731.

rs5273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:186674636 (GRCh38)
1:186643768 (GRCh37)
Canonical SPDI:: NC_000001.11:186674635:A:C,NC_000001.11:186674635:A:G
Gene:: PTGS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.002111/527 (ALFA)
G=0./0 (PRJEB36033)
G=0./0 (TWINSUK)
G=0.000259/1 (ALSPAC)
G=0.001873/1 (MGP)
G=0.00463/1 (Qatari)
G=0.013953/1957 (GnomAD)
G=0.014715/3895 (TOPMED)
G=0.015244/5 (HapMap)
G=0.015454/201 (GoESP)
G=0.018114/91 (1000Genomes)
G=0.021359/1681 (PAGE_STUDY)
A=0.4/4 (SGDP_PRJ)
HGVS:: NC_000001.11:g.186674636A>C, NC_000001.11:g.186674636A>G, NC_000001.10:g.186643768A>C, NC_000001.10:g.186643768A>G, NG_028206.2:g.10792T>G, NG_028206.2:g.10792T>C, NM_000963.4:c.1532T>G, NM_000963.4:c.1532T>C, NM_000963.3:c.1532T>G, NM_000963.3:c.1532T>C, NM_000963.2:c.1532T>G, NM_000963.2:c.1532T>C, NP_000954.1:p.Val511Gly, NP_000954.1:p.Val511Ala

dbSNP