NLRP6 - SNP

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Select item 782448781.

rs78244878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:281289 (GRCh38)
11:281289 (GRCh37)
Canonical SPDI:: NC_000011.10:281288:C:A
Gene:: NLRP6 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002114/108 (ALFA)
A=0.002213/539 (GnomAD_exomes)
A=0.002649/308 (ExAC)
A=0.00463/1 (Qatari)
A=0.009369/47 (1000Genomes)
A=0.009552/1340 (GnomAD)
A=0.010046/2659 (TOPMED)
A=0.010159/132 (GoESP)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000011.10:g.281289C>A, NC_000011.9:g.281289C>A, NG_050573.1:g.7925C>A, NM_001276700.2:c.1555C>A, NM_001276700.1:c.1555C>A, NM_138329.2:c.1555C>A, XR_930848.2:n.1718C>A, XR_930848.1:n.1760C>A, NP_001263629.1:p.Pro519Thr, NP_612202.2:p.Pro519Thr

Select item 1160816632.

rs116081663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:281283 (GRCh38)
11:281283 (GRCh37)
Canonical SPDI:: NC_000011.10:281282:G:A
Gene:: NLRP6 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000363/42 (ALFA)
A=0.000813/95 (ExAC)
A=0.000816/199 (GnomAD_exomes)
A=0.002498/13 (1000Genomes)
A=0.002651/372 (GnomAD)
A=0.00292/773 (TOPMED)
A=0.002925/38 (GoESP)
A=0.009259/2 (Qatari)
HGVS:: NC_000011.10:g.281283G>A, NC_000011.9:g.281283G>A, NG_050573.1:g.7919G>A, NM_001276700.2:c.1549G>A, NM_001276700.1:c.1549G>A, NM_138329.2:c.1549G>A, XR_930848.2:n.1712G>A, XR_930848.1:n.1754G>A, NP_001263629.1:p.Gly517Arg, NP_612202.2:p.Gly517Arg

Select item 1417554673.

rs141755467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:280403 (GRCh38)
11:280403 (GRCh37)
Canonical SPDI:: NC_000011.10:280402:G:C
Gene:: NLRP6 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001282/30 (ALFA)
C=0.000468/2 (1000Genomes)
C=0.001107/293 (TOPMED)
C=0.00112/221 (GnomAD_exomes)
C=0.001141/160 (GnomAD)
C=0.001348/5 (TWINSUK)
C=0.001619/21 (GoESP)
C=0.001816/7 (ALSPAC)
C=0.003091/118 (ExAC)
C=0.015/9 (NorthernSweden)
HGVS:: NC_000011.10:g.280403G>C, NC_000011.9:g.280403G>C, NG_050573.1:g.7039G>C, NM_001276700.2:c.669G>C, NM_001276700.1:c.669G>C, NM_138329.2:c.669G>C, XR_930848.2:n.832G>C, XR_930848.1:n.874G>C, NP_001263629.1:p.Lys223Asn, NP_612202.2:p.Lys223Asn

Select item 1438297324.

rs143829732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:284256 (GRCh38)
11:284256 (GRCh37)
Canonical SPDI:: NC_000011.10:284255:C:T
Gene:: NLRP6 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000311/41 (ALFA)
T=0./0 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.000437/109 (GnomAD_exomes)
T=0.000509/61 (ExAC)
T=0.001307/17 (GoESP)
T=0.001775/249 (GnomAD)
T=0.001991/527 (TOPMED)
T=0.002186/11 (1000Genomes)
T=0.00281/221 (PAGE_STUDY)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.284256C>T, NC_000011.9:g.284256C>T, NG_050573.1:g.10892C>T, NM_001276700.2:c.2225C>T, NM_001276700.1:c.2225C>T, NM_138329.2:c.2228C>T, XR_930848.2:n.2461C>T, XR_930848.1:n.2503C>T, NP_001263629.1:p.Ala742Val, NP_612202.2:p.Ala743Val

Select item 1481576635.

rs148157663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:284377 (GRCh38)
11:284377 (GRCh37)
Canonical SPDI:: NC_000011.10:284376:G:A,NC_000011.10:284376:G:T
Gene:: NLRP6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000449/20 (ALFA)
A=0.000231/3 (GoESP)
A=0.002332/327 (GnomAD)
A=0.008432/42 (1000Genomes)
A=0.02159/63 (KOREAN)
A=0.027255/457 (TOMMO)
G=0.375/6 (SGDP_PRJ)
HGVS:: NC_000011.10:g.284377G>A, NC_000011.10:g.284377G>T, NC_000011.9:g.284377G>A, NC_000011.9:g.284377G>T, NG_050573.1:g.11013G>A, NG_050573.1:g.11013G>T, NM_001276700.2:c.2346G>A, NM_001276700.2:c.2346G>T, NM_001276700.1:c.2346G>A, NM_001276700.1:c.2346G>T, NM_138329.2:c.2349G>A, NM_138329.2:c.2349G>T

Select item 1483889636.

rs148388963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:281692 (GRCh38)
11:281692 (GRCh37)
Canonical SPDI:: NC_000011.10:281691:G:A,NC_000011.10:281691:G:C
Gene:: NLRP6 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.005282/260 (ALFA)
C=0.001093/5 (1000Genomes)
C=0.001194/94 (PAGE_STUDY)
C=0.004768/1196 (GnomAD_exomes)
C=0.004854/18 (TWINSUK)
C=0.004921/64 (GoESP)
C=0.005232/628 (ExAC)
C=0.005708/22 (ALSPAC)
C=0.008016/8 (GoNL)
C=0.01/6 (NorthernSweden)
C=0.011236/6 (MGP)
C=0.018304/82 (Estonian)
G=0.5/1 (Siberian)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000011.10:g.281692G>A, NC_000011.10:g.281692G>C, NC_000011.9:g.281692G>A, NC_000011.9:g.281692G>C, NG_050573.1:g.8328G>A, NG_050573.1:g.8328G>C, NM_001276700.2:c.1958G>A, NM_001276700.2:c.1958G>C, NM_001276700.1:c.1958G>A, NM_001276700.1:c.1958G>C, NM_138329.2:c.1958G>A, NM_138329.2:c.1958G>C, XR_930848.2:n.2121G>A, XR_930848.2:n.2121G>C, XR_930848.1:n.2163G>A, XR_930848.1:n.2163G>C, NP_001263629.1:p.Arg653His, NP_001263629.1:p.Arg653Pro, NP_612202.2:p.Arg653His, NP_612202.2:p.Arg653Pro

Select item 1994757887.

rs199475788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:278404 (GRCh38)
11:278404 (GRCh37)
Canonical SPDI:: NC_000011.10:278403:G:A
Gene:: NLRP6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000071/1 (TOMMO)
A=0.000071/10 (GnomAD)
A=0.000094/25 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.278404G>A, NC_000011.9:g.278404G>A, NG_050573.1:g.5040G>A

Select item 1994757898.

rs199475789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:278820 (GRCh38)
11:278820 (GRCh37)
Canonical SPDI:: NC_000011.10:278819:A:G
Gene:: NLRP6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000285/4 (ALFA)
G=0.000087/23 (TOPMED)
G=0.0001/14 (GnomAD)
G=0.000342/1 (KOREAN)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.278820A>G, NC_000011.9:g.278820A>G, NG_050573.1:g.5456A>G

Select item 1994757909.

rs199475790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:278848 (GRCh38)
11:278848 (GRCh37)
Canonical SPDI:: NC_000011.10:278847:G:A
Gene:: NLRP6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003398/49 (ALFA)
A=0.004441/623 (GnomAD)
A=0.004528/23 (1000Genomes)
A=0.004828/1278 (TOPMED)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000011.10:g.278848G>A, NC_000011.9:g.278848G>A, NG_050573.1:g.5484G>A

Select item 19947579110.

rs199475791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:278992 (GRCh38)
11:278992 (GRCh37)
Canonical SPDI:: NC_000011.10:278991:G:A
Gene:: NLRP6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000057/8 (GnomAD)
A=0.000162/43 (TOPMED)
A=0.000283/5 (TOMMO)
A=0.000468/2 (1000Genomes)
A=0.001092/2 (Korea1K)
A=0.001711/5 (KOREAN)
HGVS:: NC_000011.10:g.278992G>A, NC_000011.9:g.278992G>A, NG_050573.1:g.5628G>A

Select item 19947579211.

rs199475792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:279056 (GRCh38)
11:279056 (GRCh37)
Canonical SPDI:: NC_000011.10:279055:C:G
Gene:: NLRP6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00005/7 (GnomAD)
G=0.000064/17 (TOPMED)
G=0.000468/2 (1000Genomes)
G=0.001369/4 (KOREAN)
G=0.002729/5 (Korea1K)
G=0.005556/93 (TOMMO)
HGVS:: NC_000011.10:g.279056C>G, NC_000011.9:g.279056C>G, NG_050573.1:g.5692C>G

Select item 19947579312.

rs199475793 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 11:279242 (GRCh38)
11:279242 (GRCh37)
Canonical SPDI:: NC_000011.10:279241:G:A,NC_000011.10:279241:G:C,NC_000011.10:279241:G:T
Gene:: NLRP6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00016/1 (1000Genomes)
HGVS:: NC_000011.10:g.279242G>A, NC_000011.10:g.279242G>C, NC_000011.10:g.279242G>T, NC_000011.9:g.279242G>A, NC_000011.9:g.279242G>C, NC_000011.9:g.279242G>T, NG_050573.1:g.5878G>A, NG_050573.1:g.5878G>C, NG_050573.1:g.5878G>T

Select item 19947579413.

rs199475794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:279307 (GRCh38)
11:279307 (GRCh37)
Canonical SPDI:: NC_000011.10:279306:C:G
Gene:: NLRP6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000064/9 (GnomAD)
G=0.000094/25 (TOPMED)
G=0.000156/1 (1000Genomes)
G=0.000692/2 (KOREAN)
G=0.000792/13 (TOMMO)
HGVS:: NC_000011.10:g.279307C>G, NC_000011.9:g.279307C>G, NG_050573.1:g.5943C>G

Select item 19947579514.

rs199475795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:279481 (GRCh38)
11:279481 (GRCh37)
Canonical SPDI:: NC_000011.10:279480:G:A
Gene:: NLRP6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000079/21 (TOPMED)
A=0.0001/14 (GnomAD)
A=0.000468/2 (1000Genomes)
HGVS:: NC_000011.10:g.279481G>A, NC_000011.9:g.279481G>A, NG_050573.1:g.6117G>A, NM_001276700.2:c.184G>A, NM_001276700.1:c.184G>A, NM_138329.2:c.184G>A, XR_930848.2:n.347G>A, XR_930848.1:n.389G>A, NP_001263629.1:p.Val62Met, NP_612202.2:p.Val62Met

Select item 19947579615.

rs199475796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:279558 (GRCh38)
11:279558 (GRCh37)
Canonical SPDI:: NC_000011.10:279557:G:A
Gene:: NLRP6 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.007879/205 (ALFA)
A=0.001667/1 (NorthernSweden)
A=0.003592/18 (1000Genomes)
A=0.005895/56 (GoESP)
A=0.006517/1725 (TOPMED)
A=0.007019/984 (GnomAD)
A=0.008381/339 (GnomAD_exomes)
A=0.010045/45 (Estonian)
A=0.012195/47 (ALSPAC)
A=0.013215/49 (TWINSUK)
A=0.014073/36 (ExAC)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000011.10:g.279558G>A, NC_000011.9:g.279558G>A, NG_050573.1:g.6194G>A, NM_001276700.2:c.261G>A, NM_001276700.1:c.261G>A, NM_138329.2:c.261G>A, XR_930848.2:n.424G>A, XR_930848.1:n.466G>A

Select item 19947579716.

rs199475797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:279792 (GRCh38)
11:279792 (GRCh37)
Canonical SPDI:: NC_000011.10:279791:G:C
Gene:: NLRP6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.279792G>C, NC_000011.9:g.279792G>C, NG_050573.1:g.6428G>C

Select item 19947579817.

rs199475798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:279808 (GRCh38)
11:279808 (GRCh37)
Canonical SPDI:: NC_000011.10:279807:G:T
Gene:: NLRP6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: not-provided
Validated:: by cluster
HGVS:: NC_000011.10:g.279808G>T, NC_000011.9:g.279808G>T, NG_050573.1:g.6444G>T

Select item 19947579918.

rs199475799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:279819 (GRCh38)
11:279819 (GRCh37)
Canonical SPDI:: NC_000011.10:279818:C:A
Gene:: NLRP6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000854/12 (ALFA)
C=0./0 (SGDP_PRJ)
A=0.000193/40 (GnomAD_exomes)
A=0.000265/22 (ExAC)
A=0.000781/4 (1000Genomes)
A=0.000877/123 (GnomAD)
A=0.001003/13 (GoESP)
A=0.001031/273 (TOPMED)
HGVS:: NC_000011.10:g.279819C>A, NC_000011.9:g.279819C>A, NG_050573.1:g.6455C>A

Select item 19947580019.

rs199475800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:279975 (GRCh38)
11:279975 (GRCh37)
Canonical SPDI:: NC_000011.10:279974:G:A
Gene:: NLRP6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001318/19 (ALFA)
A=0.001874/9 (1000Genomes)
A=0.002111/296 (GnomAD)
A=0.002233/591 (TOPMED)
HGVS:: NC_000011.10:g.279975G>A, NC_000011.9:g.279975G>A, NG_050573.1:g.6611G>A

Select item 19947580120.

rs199475801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:280316 (GRCh38)
11:280316 (GRCh37)
Canonical SPDI:: NC_000011.10:280315:G:A,NC_000011.10:280315:G:C
Gene:: NLRP6 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000305/7 (ALFA)
A=0.000128/12 (GnomAD_exomes)
C=0.000566/16 (TOMMO)
A=0.000763/9 (GoESP)
A=0.000793/210 (TOPMED)
A=0.000802/5 (ExAC)
A=0.00082/115 (GnomAD)
HGVS:: NC_000011.10:g.280316G>A, NC_000011.10:g.280316G>C, NC_000011.9:g.280316G>A, NC_000011.9:g.280316G>C, NG_050573.1:g.6952G>A, NG_050573.1:g.6952G>C, NM_001276700.2:c.582G>A, NM_001276700.2:c.582G>C, NM_001276700.1:c.582G>A, NM_001276700.1:c.582G>C, NM_138329.2:c.582G>A, NM_138329.2:c.582G>C, XR_930848.2:n.745G>A, XR_930848.2:n.745G>C, XR_930848.1:n.787G>A, XR_930848.1:n.787G>C

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