PKN3 - SNP - NCBI

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Select item 7464141291.

rs746414129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:128705302 (GRCh38)
9:131467581 (GRCh37)
Canonical SPDI:: NC_000009.12:128705301:G:A,NC_000009.12:128705301:G:T
Gene:: PKN3 (Varview)
Functional Consequence:: splice_acceptor_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
A=0.000061/1 (ExAC)
HGVS:: NC_000009.12:g.128705302G>A, NC_000009.12:g.128705302G>T, NC_000009.11:g.131467581G>A, NC_000009.11:g.131467581G>T, XM_017014650.2:c.-355G>A, XM_017014650.2:c.-355G>T, XM_017014650.1:c.-355G>A, XM_017014650.1:c.-355G>T

Select item 7661884022.

rs766188402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:128714247 (GRCh38)
9:131476526 (GRCh37)
Canonical SPDI:: NC_000009.12:128714246:G:T
Gene:: PKN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/1 (ExAC)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.128714247G>T, NC_000009.11:g.131476526G>T, NM_013355.5:c.1363G>T, NM_013355.4:c.1363G>T, NM_013355.3:c.1363G>T, XM_005251946.4:c.1354G>T, XM_005251946.3:c.1354G>T, XM_005251946.2:c.1354G>T, XM_005251946.1:c.1354G>T, XM_006717080.4:c.1384G>T, XM_006717080.3:c.1384G>T, XM_006717080.2:c.1384G>T, XM_006717080.1:c.1384G>T, XM_017014649.3:c.1384G>T, XM_017014649.2:c.1384G>T, XM_017014649.1:c.1384G>T, XM_017014650.2:c.985G>T, XM_017014650.1:c.985G>T, NM_001317926.2:c.1363G>T, NM_001317926.1:c.1363G>T, XM_047423279.1:c.985G>T, XM_047423278.1:c.985G>T, NP_037487.2:p.Gly455Trp, XP_005252003.1:p.Gly452Trp, XP_006717143.1:p.Gly462Trp, XP_016870138.1:p.Gly462Trp, XP_016870139.1:p.Gly329Trp, NP_001304855.1:p.Gly455Trp, XP_047279235.1:p.Gly329Trp, XP_047279234.1:p.Gly329Trp

Select item 129323.

rs12932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:128713616 (GRCh38)
9:131475895 (GRCh37)
Canonical SPDI:: NC_000009.12:128713615:G:T
Gene:: PKN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000601/129 (ALFA)
T=0./0 (TWINSUK)
T=0.000127/10 (PAGE_STUDY)
T=0.000156/1 (1000Genomes)
T=0.000232/57 (GnomAD_exomes)
T=0.000251/30 (ExAC)
T=0.000287/76 (TOPMED)
T=0.000292/41 (GnomAD)
T=0.000519/2 (ALSPAC)
T=0.000615/8 (GoESP)
HGVS:: NC_000009.12:g.128713616G>T, NC_000009.11:g.131475895G>T, NM_013355.5:c.1210G>T, NM_013355.4:c.1210G>T, NM_013355.3:c.1210G>T, XM_005251946.4:c.1201G>T, XM_005251946.3:c.1201G>T, XM_005251946.2:c.1201G>T, XM_005251946.1:c.1201G>T, XM_006717080.4:c.1231G>T, XM_006717080.3:c.1231G>T, XM_006717080.2:c.1231G>T, XM_006717080.1:c.1231G>T, XM_017014649.3:c.1231G>T, XM_017014649.2:c.1231G>T, XM_017014649.1:c.1231G>T, XM_017014650.2:c.832G>T, XM_017014650.1:c.832G>T, NM_001317926.2:c.1210G>T, NM_001317926.1:c.1210G>T, XM_047423279.1:c.832G>T, XM_047423278.1:c.832G>T, NP_037487.2:p.Val404Leu, XP_005252003.1:p.Val401Leu, XP_006717143.1:p.Val411Leu, XP_016870138.1:p.Val411Leu, XP_016870139.1:p.Val278Leu, NP_001304855.1:p.Val404Leu, XP_047279235.1:p.Val278Leu, XP_047279234.1:p.Val278Leu

Select item 15729154.

rs1572915 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:128702888 (GRCh38)
9:131465167 (GRCh37)
Canonical SPDI:: NC_000009.12:128702887:A:C,NC_000009.12:128702887:A:G
Gene:: PKN3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003355/66 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (GENOME_DK)
C=0./0 (KOREAN)
A=0./0 (Korea1K)
A=0./0 (NorthernSweden)
A=0./0 (SGDP_PRJ)
A=0./0 (Siberian)
A=0./0 (TWINSUK)
A=0.000071/1 (TOMMO)
A=0.000315/30 (GnomAD_exomes)
A=0.000745/11 (ExAC)
A=0.00203/10 (1000Genomes)
A=0.002468/26 (GoESP)
A=0.004145/581 (GnomAD)
A=0.004239/1122 (TOPMED)
A=0.00753/5 (HapMap)
A=0.009259/2 (Qatari)
G=0.082397/44 (MGP)
HGVS:: NC_000009.12:g.128702888A>C, NC_000009.12:g.128702888A>G, NC_000009.11:g.131465167A>C, NC_000009.11:g.131465167A>G, NM_013355.5:c.-28A>C, NM_013355.5:c.-28A>G, NM_013355.4:c.-28G>A, NM_013355.4:c.-28G>C, NM_013355.3:c.-28G>A, NM_013355.3:c.-28G>C, XM_005251946.4:c.-1227A>C, XM_005251946.4:c.-1227A>G, XM_006717080.4:c.-537A>C, XM_006717080.4:c.-537A>G, XM_017014649.3:c.-537A>C, XM_017014649.3:c.-537A>G, XM_017014650.2:c.-608A>C, XM_017014650.2:c.-608A>G, XM_017014650.1:c.-608A>C, XM_017014650.1:c.-608A>G, NM_001317926.2:c.-28A>C, NM_001317926.2:c.-28A>G, NM_001317926.1:c.-28G>A, NM_001317926.1:c.-28G>C, XM_047423279.1:c.-733A>C, XM_047423279.1:c.-733A>G

Select item 15729165.

rs1572916 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 9:128705972 (GRCh38)
9:131468251 (GRCh37)
Canonical SPDI:: NC_000009.12:128705971:T:A,NC_000009.12:128705971:T:C,NC_000009.12:128705971:T:G
Gene:: PKN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002474/44 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (GENOME_DK)
G=0./0 (KOREAN)
T=0./0 (Korea1K)
T=0./0 (NorthernSweden)
T=0./0 (SGDP_PRJ)
T=0./0 (Siberian)
T=0./0 (TOMMO)
T=0./0 (TWINSUK)
T=0./0 (Vietnamese)
T=0.00203/10 (1000Genomes)
T=0.002787/391 (GnomAD)
T=0.002803/742 (TOPMED)
T=0.00463/1 (Qatari)
T=0.005051/5 (HapMap)
T=0.477528/255 (MGP)
HGVS:: NC_000009.12:g.128705972T>A, NC_000009.12:g.128705972T>C, NC_000009.12:g.128705972T>G, NC_000009.11:g.131468251T>A, NC_000009.11:g.131468251T>C, NC_000009.11:g.131468251T>G

Select item 24171236.

rs2417123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 9:128716364 (GRCh38)
9:131478643 (GRCh37)
Canonical SPDI:: NC_000009.12:128716363:G:A,NC_000009.12:128716363:G:C,NC_000009.12:128716363:G:T
Gene:: PKN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.081677/1364 (ALFA)
G=0./0 (GENOME_DK)
T=0./0 (KOREAN)
G=0.002697/10 (TWINSUK)
G=0.003892/15 (ALSPAC)
G=0.00469/21 (Estonian)
G=0.023333/14 (NorthernSweden)
G=0.050926/11 (Qatari)
G=0.074074/4 (Siberian)
G=0.104779/57 (SGDP_PRJ)
G=0.130459/239 (Korea1K)
G=0.130589/18009 (GnomAD)
G=0.138367/2318 (TOMMO)
G=0.139023/36798 (TOPMED)
G=0.154435/773 (1000Genomes)
HGVS:: NC_000009.12:g.128716364G>A, NC_000009.12:g.128716364G>C, NC_000009.12:g.128716364G>T, NC_000009.11:g.131478643G>A, NC_000009.11:g.131478643G>C, NC_000009.11:g.131478643G>T

Select item 24171247.

rs2417124 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 9:128713926 (GRCh38)
9:131476205 (GRCh37)
Canonical SPDI:: NC_000009.12:128713925:T:A,NC_000009.12:128713925:T:C,NC_000009.12:128713925:T:G
Gene:: PKN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.004071/79 (ALFA)
T=0./0 (GENOME_DK)
A=0./0 (KOREAN)
T=0./0 (Korea1K)
T=0./0 (NorthernSweden)
T=0./0 (Siberian)
T=0./0 (TOMMO)
T=0./0 (Vietnamese)
T=0.000259/1 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.005396/3 (SGDP_PRJ)
T=0.009213/46 (1000Genomes)
T=0.013549/1900 (GnomAD)
T=0.013889/3 (Qatari)
T=0.014345/3797 (TOPMED)
T=0.02646/29 (HapMap)
T=0.052434/28 (MGP)
HGVS:: NC_000009.12:g.128713926T>A, NC_000009.12:g.128713926T>C, NC_000009.12:g.128713926T>G, NC_000009.11:g.131476205T>A, NC_000009.11:g.131476205T>C, NC_000009.11:g.131476205T>G

Select item 37503218.

rs3750321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:128703005 (GRCh38)
9:131465284 (GRCh37)
Canonical SPDI:: NC_000009.12:128703004:G:T
Gene:: PKN3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.344425/8063 (ALFA)
T=0.206232/3454 (TOMMO)
T=0.207133/604 (KOREAN)
T=0.211323/377 (Korea1K)
G=0.242188/1085 (Estonian)
G=0.3/12 (GENOME_DK)
G=0.302589/1122 (TWINSUK)
G=0.302857/106 (SGDP_PRJ)
G=0.30903/1191 (ALSPAC)
G=0.333333/14 (Siberian)
G=0.353333/212 (NorthernSweden)
G=0.421119/58821 (GnomAD)
G=0.439815/95 (Qatari)
G=0.43996/116453 (TOPMED)
T=0.445815/2233 (1000Genomes)
HGVS:: NC_000009.12:g.128703005G>T, NC_000009.11:g.131465284G>T, XM_005251946.4:c.-1110G>T, XM_006717080.4:c.-420G>T, XM_006717080.3:c.-420G>T, XM_006717080.2:c.-420G>T, XM_006717080.1:c.-420G>T, XM_017014649.3:c.-420G>T, XM_017014649.2:c.-420G>T, XM_017014649.1:c.-420G>T, XM_047423279.1:c.-616G>T

Select item 37503259.

rs3750325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:128720188 (GRCh38)
9:131482467 (GRCh37)
Canonical SPDI:: NC_000009.12:128720187:T:A,NC_000009.12:128720187:T:C
Gene:: PKN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.065478/9297 (ALFA)
T=0.024048/24 (GoNL)
T=0.025/1 (GENOME_DK)
T=0.037364/144 (ALSPAC)
T=0.038393/172 (Estonian)
T=0.039105/145 (TWINSUK)
T=0.045775/13 (FINRISK)
T=0.053333/32 (NorthernSweden)
T=0.074074/4 (Siberian)
T=0.075635/18691 (GnomAD_exomes)
T=0.07993/9393 (ExAC)
T=0.105166/57 (SGDP_PRJ)
T=0.111111/24 (Qatari)
T=0.121585/356 (KOREAN)
T=0.121723/65 (MGP)
T=0.127183/233 (Korea1K)
T=0.13608/2279 (TOMMO)
T=0.16425/23014 (GnomAD)
T=0.171332/2228 (GoESP)
T=0.171378/45362 (TOPMED)
T=0.173329/868 (1000Genomes)
T=0.182957/292 (HapMap)
HGVS:: NC_000009.12:g.128720188T>A, NC_000009.12:g.128720188T>C, NC_000009.11:g.131482467T>A, NC_000009.11:g.131482467T>C

Select item 375032610.

rs3750326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128720956 (GRCh38)
9:131483235 (GRCh37)
Canonical SPDI:: NC_000009.12:128720955:G:A
Gene:: PKN3 (Varview), ZDHHC12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000291/36 (ALFA)
A=0./0 (TWINSUK)
A=0.000519/2 (ALSPAC)
A=0.000727/102 (GnomAD)
A=0.001081/286 (TOPMED)
A=0.003592/18 (1000Genomes)
A=0.00853/143 (TOMMO)
A=0.009346/2 (Vietnamese)
A=0.014738/27 (Korea1K)
A=0.015748/4 (HapMap)
A=0.019178/56 (KOREAN)
HGVS:: NC_000009.12:g.128720956G>A, NC_000009.11:g.131483235G>A, NM_032799.5:c.*225C>T, NM_032799.4:c.*225C>T, XM_011519116.3:c.*323C>T, XM_011519116.2:c.*323C>T, XM_011519116.1:c.*323C>T, NM_001318015.2:c.*225C>T, NM_001318015.1:c.*225C>T, NM_001318016.2:c.*259C>T, NM_001318016.1:c.*259C>T, NM_001318023.2:c.*225C>T, NM_001318023.1:c.*225C>T, NM_001318020.2:c.*323C>T, NM_001318020.1:c.*323C>T

Select item 424043211.

rs4240432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 9:128705073 (GRCh38)
9:131467352 (GRCh37)
Canonical SPDI:: NC_000009.12:128705072:A:C,NC_000009.12:128705072:A:G,NC_000009.12:128705072:A:T
Gene:: PKN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.122071/1198 (ALFA)
A=0./0 (GENOME_DK)
T=0./0 (KOREAN)
A=0./0 (NorthernSweden)
A=0./0 (Siberian)
A=0.002697/10 (TWINSUK)
A=0.002854/11 (ALSPAC)
A=0.012777/214 (TOMMO)
A=0.028384/52 (Korea1K)
A=0.046296/10 (Qatari)
A=0.051471/28 (SGDP_PRJ)
A=0.126171/632 (1000Genomes)
A=0.1264/17719 (GnomAD)
A=0.134164/35512 (TOPMED)
A=0.203366/290 (HapMap)
HGVS:: NC_000009.12:g.128705073A>C, NC_000009.12:g.128705073A>G, NC_000009.12:g.128705073A>T, NC_000009.11:g.131467352A>C, NC_000009.11:g.131467352A>G, NC_000009.11:g.131467352A>T

Select item 483662012.

rs4836620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128701840 (GRCh38)
9:131464119 (GRCh37)
Canonical SPDI:: NC_000009.12:128701839:C:T
Gene:: PKN3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (HapMap)
HGVS:: NC_000009.12:g.128701840C>T, NC_000009.11:g.131464119C>T

Select item 483662113.

rs4836621 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 9:128708475 (GRCh38)
9:131470754 (GRCh37)
Canonical SPDI:: NC_000009.12:128708474:T:A,NC_000009.12:128708474:T:C,NC_000009.12:128708474:T:G
Gene:: PKN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.066173/1250 (ALFA)
T=0./0 (GENOME_DK)
A=0./0 (KOREAN)
T=0./0 (Korea1K)
T=0./0 (NorthernSweden)
T=0./0 (Siberian)
T=0./0 (Vietnamese)
T=0.000035/1 (TOMMO)
T=0.000446/2 (Estonian)
T=0.000539/2 (TWINSUK)
T=0.001297/5 (ALSPAC)
T=0.038462/21 (SGDP_PRJ)
T=0.041667/9 (Qatari)
T=0.117548/16432 (GnomAD)
T=0.118051/591 (1000Genomes)
T=0.12433/32909 (TOPMED)
HGVS:: NC_000009.12:g.128708475T>A, NC_000009.12:g.128708475T>C, NC_000009.12:g.128708475T>G, NC_000009.11:g.131470754T>A, NC_000009.11:g.131470754T>C, NC_000009.11:g.131470754T>G

Select item 483729514.

rs4837295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:128708693 (GRCh38)
9:131470972 (GRCh37)
Canonical SPDI:: NC_000009.12:128708692:A:G
Gene:: PKN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.106247/2007 (ALFA)
G=0.069196/310 (Estonian)
G=0.108106/15126 (GnomAD)
G=0.120318/31847 (TOPMED)
G=0.133495/495 (TWINSUK)
G=0.137519/530 (ALSPAC)
G=0.140281/140 (GoNL)
G=0.141667/85 (NorthernSweden)
G=0.160369/803 (1000Genomes)
G=0.162037/35 (Qatari)
G=0.175/7 (GENOME_DK)
G=0.336011/5632 (TOMMO)
G=0.359386/1053 (KOREAN)
G=0.361354/662 (Korea1K)
A=0.424051/67 (SGDP_PRJ)
A=0.5/8 (Siberian)
HGVS:: NC_000009.12:g.128708693A>G, NC_000009.11:g.131470972A>G

Select item 483729615.

rs4837296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:128708734 (GRCh38)
9:131471013 (GRCh37)
Canonical SPDI:: NC_000009.12:128708733:T:C,NC_000009.12:128708733:T:G
Gene:: PKN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.115408/749 (ALFA)
T=0./0 (GENOME_DK)
T=0.002697/10 (TWINSUK)
T=0.003892/15 (ALSPAC)
T=0.006027/27 (Estonian)
T=0.023333/14 (NorthernSweden)
T=0.050926/11 (Qatari)
T=0.074074/4 (Siberian)
T=0.103704/56 (SGDP_PRJ)
T=0.124915/366 (KOREAN)
T=0.130459/239 (Korea1K)
T=0.133961/18675 (GnomAD)
T=0.137271/2301 (TOMMO)
T=0.1418/37533 (TOPMED)
T=0.158807/795 (1000Genomes)
HGVS:: NC_000009.12:g.128708734T>C, NC_000009.12:g.128708734T>G, NC_000009.11:g.131471013T>C, NC_000009.11:g.131471013T>G

Select item 483729716.

rs4837297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:128713672 (GRCh38)
9:131475951 (GRCh37)
Canonical SPDI:: NC_000009.12:128713671:T:A,NC_000009.12:128713671:T:C
Gene:: PKN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.006547/183 (ALFA)
T=0./0 (FINRISK)
T=0./0 (GENOME_DK)
T=0./0 (Korea1K)
T=0./0 (NorthernSweden)
T=0./0 (Siberian)
T=0./0 (TOMMO)
T=0./0 (TWINSUK)
T=0.000341/1 (KOREAN)
T=0.000519/2 (ALSPAC)
T=0.003533/857 (GnomAD_exomes)
T=0.004305/512 (ExAC)
T=0.005396/3 (SGDP_PRJ)
T=0.009369/47 (1000Genomes)
T=0.013889/3 (Qatari)
T=0.014104/1978 (GnomAD)
T=0.014686/191 (GoESP)
T=0.014991/3968 (TOPMED)
HGVS:: NC_000009.12:g.128713672T>A, NC_000009.12:g.128713672T>C, NC_000009.11:g.131475951T>A, NC_000009.11:g.131475951T>C

Select item 483729817.

rs4837298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128719966 (GRCh38)
9:131482245 (GRCh37)
Canonical SPDI:: NC_000009.12:128719965:C:T
Gene:: PKN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (ExAC)
T=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.128719966C>T, NC_000009.11:g.131482245C>T, NM_013355.5:c.2325C>T, NM_013355.4:c.2325C>T, NM_013355.3:c.2325C>T, XM_005251946.4:c.2316C>T, XM_005251946.3:c.2316C>T, XM_005251946.2:c.2316C>T, XM_005251946.1:c.2316C>T, XM_006717080.4:c.2346C>T, XM_006717080.3:c.2346C>T, XM_006717080.2:c.2346C>T, XM_006717080.1:c.2346C>T, XM_017014649.3:c.2346C>T, XM_017014649.2:c.2346C>T, XM_017014649.1:c.2346C>T, XM_017014650.2:c.1947C>T, XM_017014650.1:c.1947C>T, NM_001317926.2:c.2325C>T, NM_001317926.1:c.2325C>T, XM_047423279.1:c.1947C>T, XM_047423278.1:c.1947C>T

Select item 702226118.

rs7022261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 9:128702174 (GRCh38)
9:131464453 (GRCh37)
Canonical SPDI:: NC_000009.12:128702173:T:A,NC_000009.12:128702173:T:C,NC_000009.12:128702173:T:G
Gene:: PKN3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.007666/54 (ALFA)
T=0./0 (GENOME_DK)
G=0./0 (KOREAN)
T=0.00027/1 (TWINSUK)
T=0.000778/3 (ALSPAC)
T=0.005136/23 (Estonian)
T=0.013889/3 (Qatari)
T=0.018333/11 (NorthernSweden)
T=0.021569/5709 (TOPMED)
T=0.021844/3049 (GnomAD)
T=0.031387/157 (1000Genomes)
T=0.041367/23 (SGDP_PRJ)
T=0.063372/1060 (TOMMO)
T=0.069307/14 (Vietnamese)
T=0.074074/4 (Siberian)
HGVS:: NC_000009.12:g.128702174T>A, NC_000009.12:g.128702174T>C, NC_000009.12:g.128702174T>G, NC_000009.11:g.131464453T>A, NC_000009.11:g.131464453T>C, NC_000009.11:g.131464453T>G

Select item 785405519.

rs7854055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128715265 (GRCh38)
9:131477544 (GRCh37)
Canonical SPDI:: NC_000009.12:128715264:G:A
Gene:: PKN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.052876/1478 (ALFA)
G=0./0 (GENOME_DK)
G=0.000539/2 (TWINSUK)
G=0.002076/8 (ALSPAC)
G=0.004464/20 (Estonian)
G=0.007491/4 (MGP)
G=0.016556/5 (FINRISK)
G=0.023333/14 (NorthernSweden)
G=0.044304/11116 (GnomAD_exomes)
G=0.046296/10 (Qatari)
G=0.05035/6096 (ExAC)
G=0.072115/15 (Vietnamese)
G=0.074074/4 (Siberian)
G=0.091575/50 (SGDP_PRJ)
G=0.100683/295 (KOREAN)
G=0.101528/186 (Korea1K)
G=0.123529/17296 (GnomAD)
G=0.123726/2073 (TOMMO)
G=0.128633/1673 (GoESP)
G=0.129336/34234 (TOPMED)
G=0.147096/737 (1000Genomes)
HGVS:: NC_000009.12:g.128715265G>A, NC_000009.11:g.131477544G>A

Select item 786267620.

rs7862676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:128711082 (GRCh38)
9:131473361 (GRCh37)
Canonical SPDI:: NC_000009.12:128711081:T:A,NC_000009.12:128711081:T:C
Gene:: PKN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.067678/1204 (ALFA)
T=0./0 (GENOME_DK)
T=0.000809/3 (TWINSUK)
T=0.001557/6 (ALSPAC)
T=0.008259/37 (Estonian)
T=0.023333/14 (NorthernSweden)
T=0.041667/9 (Qatari)
T=0.065048/1090 (TOMMO)
T=0.067235/197 (KOREAN)
T=0.073529/40 (SGDP_PRJ)
T=0.074074/4 (Siberian)
T=0.124867/17412 (GnomAD)
T=0.129752/34344 (TOPMED)
T=0.138507/694 (1000Genomes)
HGVS:: NC_000009.12:g.128711082T>A, NC_000009.12:g.128711082T>C, NC_000009.11:g.131473361T>A, NC_000009.11:g.131473361T>C

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