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Select item 4293581.

rs429358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44908684 (GRCh38)
19:45411941 (GRCh37)
Canonical SPDI:: NC_000019.10:44908683:T:C
Gene:: APOE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: association,drug-response,risk-factor,protective,uncertain-significance,pathogenic,not-provided,conflicting-interpretations-of-pathogenicity,pathogenic-established-risk-allele,other,likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0744184/7517 (ALFA)
C=0./0 (PAGE_STUDY)
C=0.0144231/3 (HapMap)
C=0.0909724/653 (Korea4K)
C=0.091718/268 (KOREAN)
C=0.095613/170 (Korea1K)
C=0.1037039/8030 (TOMMO)
C=0.1064815/23 (Qatari)
C=0.1245536/558 (Estonian)
C=0.139698/518 (TWINSUK)
C=0.1479287/200760 (GnomAD_exomes)
C=0.1483333/89 (NorthernSweden)
C=0.1505591/754 (1000Genomes)
C=0.1511555/968 (1000Genomes_30X)
C=0.1538661/593 (ALSPAC)
C=0.1553138/41110 (TOPMED)
C=0.158091/23566 (GnomAD_genomes)
C=0.1666667/2 (PRJEB36033)
C=0.1843324/5332 (ExAC)
C=0.225/9 (GENOME_DK)
T=0.25/1 (Siberian)
T=0.4683544/74 (SGDP_PRJ)
HGVS:: NC_000019.10:g.44908684T>C, NC_000019.9:g.45411941T>C, NG_007084.2:g.7903T>C, NM_000041.4:c.388T>C, NM_000041.3:c.388T>C, NM_000041.2:c.388T>C, NM_001302688.2:c.466T>C, NM_001302688.1:c.466T>C, NM_001302690.2:c.388T>C, NM_001302690.1:c.388T>C, NM_001302691.2:c.388T>C, NM_001302691.1:c.388T>C, NM_001302689.2:c.388T>C, NM_001302689.1:c.388T>C, NP_000032.1:p.Cys130Arg, NP_001289617.1:p.Cys156Arg, NP_001289619.1:p.Cys130Arg, NP_001289620.1:p.Cys130Arg, NP_001289618.1:p.Cys130Arg

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