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Select item 11219231.

rs1121923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:19951924 (GRCh38)
8:19809435 (GRCh37)
Canonical SPDI:: NC_000008.11:19951923:G:A,NC_000008.11:19951923:G:C
Gene:: LPL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0417596/8312 (ALFA)
A=0.005618/3 (MGP)
A=0.0142857/64 (Estonian)
A=0.0164474/5 (FINRISK)
A=0.0183333/11 (NorthernSweden)
A=0.0240481/24 (GoNL)
A=0.026985/104 (ALSPAC)
A=0.0299296/34 (Daghestan)
A=0.0318233/44599 (GnomAD_exomes)
A=0.0337109/125 (TWINSUK)
A=0.0345609/4195 (ExAC)
A=0.0491214/246 (1000Genomes)
A=0.049188/315 (1000Genomes_30X)
A=0.0509259/11 (Qatari)
A=0.0576864/15269 (TOPMED)
A=0.065662/854 (GoESP)
A=0.0790488/123 (HapMap)
G=0.4166667/10 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19951924G>A, NC_000008.11:g.19951924G>C, NC_000008.10:g.19809435G>A, NC_000008.10:g.19809435G>C, NG_008855.2:g.55208G>A, NG_008855.2:g.55208G>C, NM_000237.3:c.405G>A, NM_000237.3:c.405G>C, NM_000237.2:c.405G>A, NM_000237.2:c.405G>C

dbSNP