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Select item 115420651.

rs11542065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:19948304 (GRCh38)
8:19805815 (GRCh37)
Canonical SPDI:: NC_000008.11:19948303:C:G,NC_000008.11:19948303:C:T
Gene:: LPL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Clinical significance:: benign,conflicting-interpretations-of-pathogenicity,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00018/16 (ALFA)
T=0./0 (TWINSUK)
T=0.00026/1 (ALSPAC)
G=0.00323/42 (GoESP)
G=0.00379/19 (1000Genomes)
G=0.0049/386 (PAGE_STUDY)
G=0.005/32 (1000Genomes_30X)
G=0.01572/5 (HapMap)
HGVS:: NC_000008.11:g.19948304C>G, NC_000008.11:g.19948304C>T, NC_000008.10:g.19805815C>G, NC_000008.10:g.19805815C>T, NG_008855.2:g.51588C>G, NG_008855.2:g.51588C>T, NM_000237.3:c.213C>G, NM_000237.3:c.213C>T, NM_000237.2:c.213C>G, NM_000237.2:c.213C>T, NP_000228.1:p.His71Gln

dbSNP