SNP - NCBI

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Select item 3001.

rs300 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19959376 (GRCh38)
8:19816887 (GRCh37)
Canonical SPDI:: NC_000008.11:19959375:A:G
Gene:: LPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0004896/144 (ALFA)
G=0.0003018/423 (GnomAD_exomes)
G=0.0010844/131 (ExAC)
G=0.0032464/484 (GnomAD_genomes)
G=0.0035915/23 (1000Genomes_30X)
G=0.0037939/19 (1000Genomes)
G=0.0039253/1039 (TOPMED)
G=0.0043826/57 (GoESP)
G=0.0046296/1 (Qatari)
G=0.0063027/496 (PAGE_STUDY)
G=0.0082237/5 (HapMap)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19959376A>G, NC_000008.10:g.19816887A>G, NG_008855.2:g.62660A>G, NM_000237.3:c.1135A>G, NM_000237.2:c.1135A>G, NP_000228.1:p.Thr379Ala

dbSNP