NUAK1 - SNP

Search results

Items: 1 to 20 of 27357

<< First< Prev

Page of 1368

Next >Last >>

Select item 556671011.

rs55667101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:106070838 (GRCh38)
12:106464616 (GRCh37)
Canonical SPDI:: NC_000012.12:106070837:G:A,NC_000012.12:106070837:G:C
Gene:: NUAK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.006114/303 (ALFA)
A=0.000495/8 (TOMMO)
A=0.000539/2 (TWINSUK)
A=0.000778/3 (ALSPAC)
A=0.001638/3 (Korea1K)
A=0.001711/5 (KOREAN)
A=0.003333/2 (NorthernSweden)
A=0.00463/1 (Qatari)
A=0.00558/25 (Estonian)
A=0.007491/4 (MGP)
A=0.008799/1068 (ExAC)
A=0.009831/2472 (GnomAD_exomes)
A=0.009868/3 (FINRISK)
A=0.014609/190 (GoESP)
A=0.015917/2231 (GnomAD)
A=0.016918/4478 (TOPMED)
A=0.017333/87 (1000Genomes)
A=0.025/1 (GENOME_DK)
G=0.458333/11 (SGDP_PRJ)
G=0.5/1 (Siberian)
HGVS:: NC_000012.12:g.106070838G>A, NC_000012.12:g.106070838G>C, NC_000012.11:g.106464616G>A, NC_000012.11:g.106464616G>C, NM_014840.3:c.768C>T, NM_014840.3:c.768C>G, NM_014840.2:c.768C>T, NM_014840.2:c.768C>G, NP_055655.1:p.Phe256Leu

Select item 563531312.

rs56353131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:106067435 (GRCh38)
12:106461213 (GRCh37)
Canonical SPDI:: NC_000012.12:106067434:C:T
Gene:: NUAK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00567/319 (ALFA)
T=0.000809/3 (TWINSUK)
T=0.001557/6 (ALSPAC)
T=0.00463/1 (Qatari)
T=0.007536/1894 (GnomAD_exomes)
T=0.007606/923 (ExAC)
T=0.013109/7 (MGP)
T=0.015591/2186 (GnomAD)
T=0.016146/210 (GoESP)
T=0.016971/4492 (TOPMED)
T=0.017112/50 (KOREAN)
T=0.01964/329 (TOMMO)
T=0.025141/126 (1000Genomes)
T=0.025543/2010 (PAGE_STUDY)
T=0.027293/50 (Korea1K)
T=0.039088/24 (Vietnamese)
C=0.375/6 (SGDP_PRJ)
HGVS:: NC_000012.12:g.106067435C>T, NC_000012.11:g.106461213C>T, NM_014840.3:c.1353G>A, NM_014840.2:c.1353G>A

Select item 1117589723.

rs111758972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:106067337 (GRCh38)
12:106461115 (GRCh37)
Canonical SPDI:: NC_000012.12:106067336:C:A,NC_000012.12:106067336:C:T
Gene:: NUAK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.023956/4779 (ALFA)
T=0.001341/337 (GnomAD_exomes)
T=0.001582/192 (ExAC)
T=0.004528/23 (1000Genomes)
T=0.00463/1 (Qatari)
T=0.004749/666 (GnomAD)
T=0.005151/67 (GoESP)
T=0.00558/1477 (TOPMED)
T=0.008336/656 (PAGE_STUDY)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.106067337C>A, NC_000012.12:g.106067337C>T, NC_000012.11:g.106461115C>A, NC_000012.11:g.106461115C>T, NM_014840.3:c.1451G>T, NM_014840.3:c.1451G>A, NM_014840.2:c.1451G>T, NM_014840.2:c.1451G>A, NP_055655.1:p.Arg484Leu, NP_055655.1:p.Arg484His

Select item 1422201314.

rs142220131 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:106106530 (GRCh38)
12:106500308 (GRCh37)
Canonical SPDI:: NC_000012.12:106106529:A:G,NC_000012.12:106106529:A:T
Gene:: NUAK1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000253/6 (ALFA)
G=0.000154/2 (GoESP)
G=0.000577/81 (GnomAD)
G=0.001772/214 (ExAC)
G=0.002324/575 (GnomAD_exomes)
G=0.002811/14 (1000Genomes)
G=0.005096/85 (TOMMO)
G=0.010371/19 (Korea1K)
G=0.015743/46 (KOREAN)
A=0.5/1 (Siberian)
A=0.5/4 (SGDP_PRJ)
HGVS:: NC_000012.12:g.106106530A>G, NC_000012.12:g.106106530A>T, NC_000012.11:g.106500308A>G, NC_000012.11:g.106500308A>T

Select item 617327975.

rs61732797 has merged into rs55667101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:106070838 (GRCh38)
12:106464616 (GRCh37)
Canonical SPDI:: NC_000012.12:106070837:G:A,NC_000012.12:106070837:G:C
Gene:: NUAK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.006114/303 (ALFA)
A=0.000495/8 (TOMMO)
A=0.000539/2 (TWINSUK)
A=0.000778/3 (ALSPAC)
A=0.001638/3 (Korea1K)
A=0.001711/5 (KOREAN)
A=0.003333/2 (NorthernSweden)
A=0.00463/1 (Qatari)
A=0.00558/25 (Estonian)
A=0.007491/4 (MGP)
A=0.008799/1068 (ExAC)
A=0.009831/2472 (GnomAD_exomes)
A=0.009868/3 (FINRISK)
A=0.014609/190 (GoESP)
A=0.015917/2231 (GnomAD)
A=0.016918/4478 (TOPMED)
A=0.017333/87 (1000Genomes)
A=0.025/1 (GENOME_DK)
G=0.458333/11 (SGDP_PRJ)
G=0.5/1 (Siberian)
HGVS:: NC_000012.12:g.106070838G>A, NC_000012.12:g.106070838G>C, NC_000012.11:g.106464616G>A, NC_000012.11:g.106464616G>C, NM_014840.3:c.768C>T, NM_014840.3:c.768C>G, NM_014840.2:c.768C>T, NM_014840.2:c.768C>G, NP_055655.1:p.Phe256Leu

Select item 617327986.

rs61732798 has merged into rs56353131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:106067435 (GRCh38)
12:106461213 (GRCh37)
Canonical SPDI:: NC_000012.12:106067434:C:T
Gene:: NUAK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00567/319 (ALFA)
T=0.000809/3 (TWINSUK)
T=0.001557/6 (ALSPAC)
T=0.00463/1 (Qatari)
T=0.007536/1894 (GnomAD_exomes)
T=0.007606/923 (ExAC)
T=0.013109/7 (MGP)
T=0.015591/2186 (GnomAD)
T=0.016146/210 (GoESP)
T=0.016971/4492 (TOPMED)
T=0.017112/50 (KOREAN)
T=0.01964/329 (TOMMO)
T=0.025141/126 (1000Genomes)
T=0.025543/2010 (PAGE_STUDY)
T=0.027293/50 (Korea1K)
T=0.039088/24 (Vietnamese)
C=0.375/6 (SGDP_PRJ)
HGVS:: NC_000012.12:g.106067435C>T, NC_000012.11:g.106461213C>T, NM_014840.3:c.1353G>A, NM_014840.2:c.1353G>A

Select item 7367877.

rs736787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:106077476 (GRCh38)
12:106471254 (GRCh37)
Canonical SPDI:: NC_000012.12:106077475:T:A,NC_000012.12:106077475:T:C
Gene:: NUAK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.093167/13143 (ALFA)
C=0.05/2 (GENOME_DK)
C=0.050446/226 (Estonian)
C=0.058333/35 (NorthernSweden)
C=0.074148/74 (GoNL)
C=0.076803/296 (ALSPAC)
C=0.080636/299 (TWINSUK)
C=0.123125/17258 (GnomAD)
C=0.138233/36589 (TOPMED)
C=0.157407/34 (Qatari)
C=0.205131/16143 (PAGE_STUDY)
C=0.220331/1103 (1000Genomes)
C=0.289634/95 (HapMap)
T=0.415842/84 (SGDP_PRJ)
T=0.464506/7785 (TOMMO)
C=0.47601/377 (PRJEB37584)
T=0.47884/1403 (KOREAN)
T=0.49345/904 (Korea1K)
T=0.495327/106 (Vietnamese)
T=0.5/10 (Siberian)
HGVS:: NC_000012.12:g.106077476T>A, NC_000012.12:g.106077476T>C, NC_000012.11:g.106471254T>A, NC_000012.11:g.106471254T>C

Select item 7367888.

rs736788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:106077893 (GRCh38)
12:106471671 (GRCh37)
Canonical SPDI:: NC_000012.12:106077892:A:G,NC_000012.12:106077892:A:T
Gene:: NUAK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.314942/5611 (ALFA)
A=0.011749/197 (TOMMO)
A=0.01843/54 (KOREAN)
A=0.018559/34 (Korea1K)
A=0.037736/8 (Vietnamese)
A=0.15572/294 (HapMap)
A=0.171815/89 (SGDP_PRJ)
A=0.186758/935 (1000Genomes)
A=0.211538/11 (Siberian)
A=0.248128/65677 (TOPMED)
A=0.26314/36868 (GnomAD)
A=0.328657/328 (GoNL)
A=0.333333/200 (NorthernSweden)
A=0.35/14 (GENOME_DK)
A=0.354687/1589 (Estonian)
A=0.357066/1324 (TWINSUK)
A=0.357291/1377 (ALSPAC)
A=0.375/81 (Qatari)
HGVS:: NC_000012.12:g.106077893A>G, NC_000012.12:g.106077893A>T, NC_000012.11:g.106471671A>G, NC_000012.11:g.106471671A>T

Select item 7547239.

rs754723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:106109761 (GRCh38)
12:106503539 (GRCh37)
Canonical SPDI:: NC_000012.12:106109760:A:G
Gene:: NUAK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.007411/140 (ALFA)
G=0./0 (TWINSUK)
G=0.000223/1 (Estonian)
G=0.000259/1 (ALSPAC)
G=0.003049/1 (HapMap)
G=0.011252/1577 (GnomAD)
G=0.011655/3085 (TOPMED)
G=0.013889/3 (Qatari)
G=0.014522/73 (1000Genomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.106109761A>G, NC_000012.11:g.106503539A>G

Select item 75472410.

rs754724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:106109696 (GRCh38)
12:106503474 (GRCh37)
Canonical SPDI:: NC_000012.12:106109695:T:A,NC_000012.12:106109695:T:C
Gene:: NUAK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.466378/13247 (ALFA)
T=0.293981/127 (SGDP_PRJ)
T=0.34/17 (Siberian)
T=0.375132/709 (HapMap)
T=0.410993/2058 (1000Genomes)
C=0.425/17 (GENOME_DK)
T=0.428091/59884 (GnomAD)
T=0.432582/114500 (TOPMED)
C=0.44214/810 (Korea1K)
C=0.458362/1343 (KOREAN)
T=0.461161/2066 (Estonian)
C=0.466806/7824 (TOMMO)
C=0.467593/101 (Qatari)
C=0.473275/1824 (ALSPAC)
C=0.485577/101 (Vietnamese)
C=0.487864/1809 (TWINSUK)
C=0.487976/487 (GoNL)
C=0.493333/296 (NorthernSweden)
HGVS:: NC_000012.12:g.106109696T>A, NC_000012.12:g.106109696T>C, NC_000012.11:g.106503474T>A, NC_000012.11:g.106503474T>C

Select item 76503511.

rs765035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:106124479 (GRCh38)
12:106518257 (GRCh37)
Canonical SPDI:: NC_000012.12:106124478:C:A
Gene:: NUAK1 (Varview), LOC124903007 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.106124479C>A, NC_000012.11:g.106518257C>A

Select item 76859712.

rs768597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:106079428 (GRCh38)
12:106473206 (GRCh37)
Canonical SPDI:: NC_000012.12:106079427:C:T
Gene:: NUAK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.106079428C>T, NC_000012.11:g.106473206C>T

Select item 89226913.

rs892269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:106070532 (GRCh38)
12:106464310 (GRCh37)
Canonical SPDI:: NC_000012.12:106070531:T:A,NC_000012.12:106070531:T:C
Gene:: NUAK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.346945/98343 (ALFA)
T=0.01143/192 (TOMMO)
T=0.017747/52 (KOREAN)
T=0.020197/37 (Korea1K)
T=0.022727/18 (PRJEB37584)
T=0.037383/8 (Vietnamese)
T=0.139535/264 (HapMap)
T=0.165735/13043 (PAGE_STUDY)
T=0.172414/90 (SGDP_PRJ)
T=0.185821/931 (1000Genomes)
T=0.211538/11 (Siberian)
T=0.21737/453 (HGDP_Stanford)
T=0.248547/65788 (TOPMED)
T=0.263217/36863 (GnomAD)
T=0.324324/24 (PRJEB36033)
T=0.325/13 (GENOME_DK)
T=0.326667/196 (NorthernSweden)
T=0.331663/331 (GoNL)
T=0.358482/1606 (Estonian)
T=0.359626/1386 (ALSPAC)
T=0.363808/1349 (TWINSUK)
T=0.37037/80 (Qatari)
HGVS:: NC_000012.12:g.106070532T>A, NC_000012.12:g.106070532T>C, NC_000012.11:g.106464310T>A, NC_000012.11:g.106464310T>C

Select item 89227014.

rs892270 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 12:106085048 (GRCh38)
12:106478826 (GRCh37)
Canonical SPDI:: NC_000012.12:106085047:T:A,NC_000012.12:106085047:T:C,NC_000012.12:106085047:T:G
Gene:: NUAK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.498789/39531 (ALFA)
T=0.050218/92 (Korea1K)
T=0.053584/157 (KOREAN)
T=0.09434/20 (Vietnamese)
T=0.204444/92 (SGDP_PRJ)
T=0.255579/481 (HapMap)
T=0.319019/1598 (1000Genomes)
T=0.344231/716 (HGDP_Stanford)
T=0.369565/17 (Siberian)
T=0.384615/10 (PRJEB36033)
T=0.403982/106930 (TOPMED)
T=0.418417/58601 (GnomAD)
G=0.420128/263 (Chileans)
G=0.433929/1944 (Estonian)
G=0.446667/268 (NorthernSweden)
G=0.44795/1661 (TWINSUK)
G=0.45/18 (GENOME_DK)
G=0.455371/1755 (ALSPAC)
G=0.481481/104 (Qatari)
T=0.484155/550 (Daghestan)
G=0.491984/491 (GoNL)
HGVS:: NC_000012.12:g.106085048T>A, NC_000012.12:g.106085048T>C, NC_000012.12:g.106085048T>G, NC_000012.11:g.106478826T>A, NC_000012.11:g.106478826T>C, NC_000012.11:g.106478826T>G

LitVar

Select item 91983715.

rs919837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:106113946 (GRCh38)
12:106507724 (GRCh37)
Canonical SPDI:: NC_000012.12:106113945:A:G
Gene:: NUAK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.130529/33338 (ALFA)
G=0.05/2 (GENOME_DK)
G=0.09375/6 (PRJEB36033)
G=0.106124/409 (ALSPAC)
G=0.115/69 (NorthernSweden)
G=0.117044/434 (TWINSUK)
G=0.117406/344 (KOREAN)
G=0.121212/96 (PRJEB37584)
G=0.122271/224 (Korea1K)
G=0.127787/2142 (TOMMO)
G=0.134269/134 (GoNL)
G=0.149533/32 (Vietnamese)
G=0.154464/692 (Estonian)
G=0.199136/415 (HGDP_Stanford)
G=0.212963/46 (Qatari)
G=0.30579/42807 (GnomAD)
G=0.311364/82415 (TOPMED)
A=0.321839/56 (SGDP_PRJ)
G=0.326202/1634 (1000Genomes)
G=0.402892/31706 (PAGE_STUDY)
G=0.406448/769 (HapMap)
A=0.5/8 (Siberian)
HGVS:: NC_000012.12:g.106113946A>G, NC_000012.11:g.106507724A>G

Select item 93408516.

rs934085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:106075393 (GRCh38)
12:106469171 (GRCh37)
Canonical SPDI:: NC_000012.12:106075392:C:T
Gene:: NUAK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.295198/8249 (ALFA)
C=0.011678/196 (TOMMO)
C=0.01843/54 (KOREAN)
C=0.018559/34 (Korea1K)
C=0.140244/46 (HapMap)
C=0.169884/88 (SGDP_PRJ)
C=0.182698/915 (1000Genomes)
C=0.211538/11 (Siberian)
C=0.230769/6 (PRJEB36033)
C=0.245816/65065 (TOPMED)
C=0.261163/36496 (GnomAD)
C=0.291887/331 (Daghestan)
C=0.3/12 (GENOME_DK)
C=0.328657/328 (GoNL)
C=0.335/201 (NorthernSweden)
C=0.354687/1589 (Estonian)
C=0.357032/1376 (ALSPAC)
C=0.357066/1324 (TWINSUK)
C=0.37963/82 (Qatari)
HGVS:: NC_000012.12:g.106075393C>T, NC_000012.11:g.106469171C>T

PubMed

Select item 95842217.

rs958422 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 12:106092701 (GRCh38)
12:106486479 (GRCh37)
Canonical SPDI:: NC_000012.12:106092700:T:A,NC_000012.12:106092700:T:G
Gene:: NUAK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.445993/34106 (ALFA)
G=0.285714/16 (PRJEB36033)
T=0.35641/139 (SGDP_PRJ)
T=0.375/15 (Siberian)
G=0.38785/83 (Vietnamese)
G=0.388889/84 (Qatari)
G=0.408309/6843 (TOMMO)
G=0.409934/751 (Korea1K)
G=0.413652/1212 (KOREAN)
G=0.425/17 (GENOME_DK)
G=0.428434/892 (HGDP_Stanford)
G=0.435/261 (NorthernSweden)
G=0.440581/1698 (ALSPAC)
G=0.443386/838 (HapMap)
G=0.4499/449 (GoNL)
G=0.45658/1693 (TWINSUK)
G=0.458827/121447 (TOPMED)
G=0.459598/2059 (Estonian)
G=0.45976/64326 (GnomAD)
G=0.462211/2315 (1000Genomes)
HGVS:: NC_000012.12:g.106092701T>A, NC_000012.12:g.106092701T>G, NC_000012.11:g.106486479T>A, NC_000012.11:g.106486479T>G

Select item 96787218.

rs967872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:106098517 (GRCh38)
12:106492295 (GRCh37)
Canonical SPDI:: NC_000012.12:106098516:T:A,NC_000012.12:106098516:T:C
Gene:: NUAK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.45089/10540 (ALFA)
T=0.284091/125 (SGDP_PRJ)
T=0.318182/14 (Siberian)
T=0.338795/641 (HapMap)
T=0.377577/1891 (1000Genomes)
T=0.388942/102949 (TOPMED)
T=0.389779/54569 (GnomAD)
C=0.419048/88 (Vietnamese)
C=0.425/17 (GENOME_DK)
C=0.429585/787 (Korea1K)
C=0.435452/7298 (TOMMO)
C=0.442321/1296 (KOREAN)
C=0.474831/1830 (ALSPAC)
C=0.478958/478 (GoNL)
T=0.481473/2157 (Estonian)
C=0.485/291 (NorthernSweden)
C=0.490741/106 (Qatari)
C=0.49137/1822 (TWINSUK)
HGVS:: NC_000012.12:g.106098517T>A, NC_000012.12:g.106098517T>C, NC_000012.11:g.106492295T>A, NC_000012.11:g.106492295T>C

PubMed

Select item 96787319.

rs967873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:106098784 (GRCh38)
12:106492562 (GRCh37)
Canonical SPDI:: NC_000012.12:106098783:G:A
Gene:: NUAK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.0002/1 (1000Genomes)
HGVS:: NC_000012.12:g.106098784G>A, NC_000012.11:g.106492562G>A

Select item 100613620.

rs1006136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:106116185 (GRCh38)
12:106509963 (GRCh37)
Canonical SPDI:: NC_000012.12:106116184:C:T
Gene:: NUAK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.008629/163 (ALFA)
T=0.000781/4 (1000Genomes)
T=0.00504/1334 (TOPMED)
T=0.005593/784 (GnomAD)
T=0.006135/2 (HapMap)
T=0.007014/7 (GoNL)
T=0.010518/39 (TWINSUK)
T=0.011676/45 (ALSPAC)
T=0.013616/61 (Estonian)
C=0.5/2 (SGDP_PRJ)
C=0.5/2 (Siberian)
HGVS:: NC_000012.12:g.106116185C>T, NC_000012.11:g.106509963C>T

<< First< Prev

Page of 1368

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Search results

Items: 1 to 20 of 27357

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity