rs429358 - SNP

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:: coding_sequence_variant,missense_variant
Clinical significance:: pathogenic,association,risk-factor,conflicting-interpretations-of-pathogenicity,likely-pathogenic,uncertain-significance,protective,drug-response,other
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.074418/7517 (ALFA)
C=0./0 (PAGE_STUDY)
C=0.014423/3 (HapMap)
C=0.091718/268 (KOREAN)
C=0.095613/170 (Korea1K)
C=0.103087/1727 (TOMMO)
C=0.106481/23 (Qatari)
C=0.124554/558 (Estonian)
C=0.138498/23502 (GnomAD_exomes)
C=0.139698/518 (TWINSUK)
C=0.148333/89 (NorthernSweden)
C=0.151156/757 (1000Genomes)
C=0.153866/593 (ALSPAC)
C=0.155314/41110 (TOPMED)
C=0.160595/22490 (GnomAD)
C=0.166667/2 (PRJEB36033)
C=0.184332/5332 (ExAC)
C=0.225/9 (GENOME_DK)
T=0.25/1 (Siberian)
T=0.468354/74 (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

Select item 612287562.

rs61228756 has merged into 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:: coding_sequence_variant,missense_variant
Clinical significance:: pathogenic,association,risk-factor,conflicting-interpretations-of-pathogenicity,likely-pathogenic,uncertain-significance,protective,drug-response,other
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.074418/7517 (ALFA)
C=0./0 (PAGE_STUDY)
C=0.014423/3 (HapMap)
C=0.091718/268 (KOREAN)
C=0.095613/170 (Korea1K)
C=0.103087/1727 (TOMMO)
C=0.106481/23 (Qatari)
C=0.124554/558 (Estonian)
C=0.138498/23502 (GnomAD_exomes)
C=0.139698/518 (TWINSUK)
C=0.148333/89 (NorthernSweden)
C=0.151156/757 (1000Genomes)
C=0.153866/593 (ALSPAC)
C=0.155314/41110 (TOPMED)
C=0.160595/22490 (GnomAD)
C=0.166667/2 (PRJEB36033)
C=0.184332/5332 (ExAC)
C=0.225/9 (GENOME_DK)
T=0.25/1 (Siberian)
T=0.468354/74 (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

Select item 6304963.

rs630496 has merged into 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:: coding_sequence_variant,missense_variant
Clinical significance:: pathogenic,association,risk-factor,conflicting-interpretations-of-pathogenicity,likely-pathogenic,uncertain-significance,protective,drug-response,other
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.074418/7517 (ALFA)
C=0./0 (PAGE_STUDY)
C=0.014423/3 (HapMap)
C=0.091718/268 (KOREAN)
C=0.095613/170 (Korea1K)
C=0.103087/1727 (TOMMO)
C=0.106481/23 (Qatari)
C=0.124554/558 (Estonian)
C=0.138498/23502 (GnomAD_exomes)
C=0.139698/518 (TWINSUK)
C=0.148333/89 (NorthernSweden)
C=0.151156/757 (1000Genomes)
C=0.153866/593 (ALSPAC)
C=0.155314/41110 (TOPMED)
C=0.160595/22490 (GnomAD)
C=0.166667/2 (PRJEB36033)
C=0.184332/5332 (ExAC)
C=0.225/9 (GENOME_DK)
T=0.25/1 (Siberian)
T=0.468354/74 (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

dbSNP