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Select item 17939481.

rs1793948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:47978019 (GRCh38)
12:48371802 (GRCh37)
Canonical SPDI:: NC_000012.12:47978018:A:G
Gene:: COL2A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00132/86 (ALFA)
G=0.000996/249 (GnomAD_exomes)
G=0.001281/148 (ExAC)
G=0.004306/56 (GoESP)
G=0.00473/663 (GnomAD)
G=0.004794/1269 (TOPMED)
G=0.004997/25 (1000Genomes)
HGVS:: NC_000012.12:g.47978019A>G, NC_000012.11:g.48371802A>G, NG_008072.1:g.31484T>C, NM_001844.5:c.3102T>C, NM_001844.4:c.3102T>C, NM_033150.3:c.2895T>C, NM_033150.2:c.2895T>C, XM_017018831.3:c.2556T>C, XM_017018831.2:c.2556T>C, XM_017018831.1:c.2556T>C, XM_017018828.1:c.3246T>C, XM_017018829.1:c.3243T>C, XM_017018830.1:c.3036T>C, XM_047428315.1:c.2556T>C

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