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Select item 2481.

rs248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:19953315 (GRCh38)
8:19810826 (GRCh37)
Canonical SPDI:: NC_000008.11:19953314:G:A
Gene:: LPL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0687494/6932 (ALFA)
A=0.0304878/10 (HapMap)
A=0.0382573/245 (1000Genomes_30X)
A=0.038738/194 (1000Genomes)
A=0.0462963/10 (Qatari)
A=0.0486891/26 (MGP)
A=0.05/2 (GENOME_DK)
A=0.0513121/6226 (ExAC)
A=0.0538857/14263 (TOPMED)
A=0.057121/8526 (GnomAD_genomes)
A=0.0654313/851 (GoESP)
A=0.0657895/20 (FINRISK)
A=0.0663513/92546 (GnomAD_exomes)
A=0.0681363/68 (GoNL)
A=0.0687597/265 (ALSPAC)
A=0.0728155/270 (TWINSUK)
A=0.0816667/49 (NorthernSweden)
A=0.1214286/544 (Estonian)
G=0.4444444/8 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000008.11:g.19953315G>A, NC_000008.10:g.19810826G>A, NG_008855.2:g.56599G>A, NM_000237.3:c.435G>A, NM_000237.2:c.435G>A

dbSNP