19956018[POSITION] AND 8[CHR] - SNP

Select item 2681.

rs268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19956018 (GRCh38)
8:19813529 (GRCh37)
Canonical SPDI:: NC_000008.11:19956017:A:G
Gene:: LPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance,risk-factor,conflicting-interpretations-of-pathogenicity,benign,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.016273/3560 (ALFA)
G=0.000035/1 (TOMMO)
G=0.004685/23 (1000Genomes)
G=0.004968/391 (PAGE_STUDY)
G=0.00565/4 (HapMap)
G=0.011043/2923 (TOPMED)
G=0.01278/3212 (GnomAD_exomes)
G=0.013109/7 (MGP)
G=0.013158/4 (FINRISK)
G=0.013274/1862 (GnomAD)
G=0.013363/1622 (ExAC)
G=0.018682/72 (ALSPAC)
G=0.019957/74 (TWINSUK)
G=0.023884/107 (Estonian)
G=0.028333/17 (NorthernSweden)
G=0.028571/2 (PRJEB36033)
G=0.03006/30 (GoNL)
G=0.05/2 (GENOME_DK)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19956018A>G, NC_000008.10:g.19813529A>G, NG_008855.2:g.59302A>G, NM_000237.3:c.953A>G, NM_000237.2:c.953A>G, NP_000228.1:p.Asn318Ser

Select item 3865718032.

rs386571803 has merged into rs268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19956018 (GRCh38)
8:19813529 (GRCh37)
Canonical SPDI:: NC_000008.11:19956017:A:G
Gene:: LPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance,risk-factor,conflicting-interpretations-of-pathogenicity,benign,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.016273/3560 (ALFA)
G=0.000035/1 (TOMMO)
G=0.004685/23 (1000Genomes)
G=0.004968/391 (PAGE_STUDY)
G=0.00565/4 (HapMap)
G=0.011043/2923 (TOPMED)
G=0.01278/3212 (GnomAD_exomes)
G=0.013109/7 (MGP)
G=0.013158/4 (FINRISK)
G=0.013274/1862 (GnomAD)
G=0.013363/1622 (ExAC)
G=0.018682/72 (ALSPAC)
G=0.019957/74 (TWINSUK)
G=0.023884/107 (Estonian)
G=0.028333/17 (NorthernSweden)
G=0.028571/2 (PRJEB36033)
G=0.03006/30 (GoNL)
G=0.05/2 (GENOME_DK)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19956018A>G, NC_000008.10:g.19813529A>G, NG_008855.2:g.59302A>G, NM_000237.3:c.953A>G, NM_000237.2:c.953A>G, NP_000228.1:p.Asn318Ser

Select item 528189023.

rs52818902 has merged into rs268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19956018 (GRCh38)
8:19813529 (GRCh37)
Canonical SPDI:: NC_000008.11:19956017:A:G
Gene:: LPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance,risk-factor,conflicting-interpretations-of-pathogenicity,benign,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.016273/3560 (ALFA)
G=0.000035/1 (TOMMO)
G=0.004685/23 (1000Genomes)
G=0.004968/391 (PAGE_STUDY)
G=0.00565/4 (HapMap)
G=0.011043/2923 (TOPMED)
G=0.01278/3212 (GnomAD_exomes)
G=0.013109/7 (MGP)
G=0.013158/4 (FINRISK)
G=0.013274/1862 (GnomAD)
G=0.013363/1622 (ExAC)
G=0.018682/72 (ALSPAC)
G=0.019957/74 (TWINSUK)
G=0.023884/107 (Estonian)
G=0.028333/17 (NorthernSweden)
G=0.028571/2 (PRJEB36033)
G=0.03006/30 (GoNL)
G=0.05/2 (GENOME_DK)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19956018A>G, NC_000008.10:g.19813529A>G, NG_008855.2:g.59302A>G, NM_000237.3:c.953A>G, NM_000237.2:c.953A>G, NP_000228.1:p.Asn318Ser

Select item 178507374.

rs17850737 has merged into rs268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19956018 (GRCh38)
8:19813529 (GRCh37)
Canonical SPDI:: NC_000008.11:19956017:A:G
Gene:: LPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance,risk-factor,conflicting-interpretations-of-pathogenicity,benign,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.016273/3560 (ALFA)
G=0.000035/1 (TOMMO)
G=0.004685/23 (1000Genomes)
G=0.004968/391 (PAGE_STUDY)
G=0.00565/4 (HapMap)
G=0.011043/2923 (TOPMED)
G=0.01278/3212 (GnomAD_exomes)
G=0.013109/7 (MGP)
G=0.013158/4 (FINRISK)
G=0.013274/1862 (GnomAD)
G=0.013363/1622 (ExAC)
G=0.018682/72 (ALSPAC)
G=0.019957/74 (TWINSUK)
G=0.023884/107 (Estonian)
G=0.028333/17 (NorthernSweden)
G=0.028571/2 (PRJEB36033)
G=0.03006/30 (GoNL)
G=0.05/2 (GENOME_DK)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19956018A>G, NC_000008.10:g.19813529A>G, NG_008855.2:g.59302A>G, NM_000237.3:c.953A>G, NM_000237.2:c.953A>G, NP_000228.1:p.Asn318Ser

dbSNP