GNAT2 - SNP

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Select item 17998751.

rs1799875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:109606352 (GRCh38)
1:110148974 (GRCh37)
Canonical SPDI:: NC_000001.11:109606351:C:A,NC_000001.11:109606351:C:G,NC_000001.11:109606351:C:T
Gene:: GNAT2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.276451/810 (KOREAN)
C=0.289474/110 (SGDP_PRJ)
C=0.290393/532 (Korea1K)
C=0.318233/5334 (TOMMO)
T=0.330617/4300 (GoESP)
C=0.333333/16 (Siberian)
T=0.358624/50170 (GnomAD)
T=0.362579/686 (HapMap)
T=0.363104/96110 (TOPMED)
T=0.372892/1867 (1000Genomes)
T=0.377778/34 (PRJEB36033)
T=0.412037/89 (Qatari)
T=0.414732/1858 (Estonian)
C=0.424837/260 (Vietnamese)
T=0.432797/1668 (ALSPAC)
C=0.436667/262 (NorthernSweden)
T=0.43932/1629 (TWINSUK)
T=0.449044/54513 (ExAC)
T=0.45/18 (GENOME_DK)
T=0.457916/457 (GoNL)
T=0.459507/522 (Daghestan)
T=0.460674/246 (MGP)
T=0.464965/116935 (GnomAD_exomes)
T=0.486842/148 (FINRISK)
C=0.49904/1040 (HGDP_Stanford)
HGVS:: NC_000001.11:g.109606352C>A, NC_000001.11:g.109606352C>G, NC_000001.11:g.109606352C>T, NC_000001.10:g.110148974C>A, NC_000001.10:g.110148974C>G, NC_000001.10:g.110148974C>T, NG_009099.1:g.11732G>T, NG_009099.1:g.11732G>C, NG_009099.1:g.11732G>A, NM_005272.5:c.546G>T, NM_005272.5:c.546G>C, NM_005272.5:c.546G>A, NM_005272.4:c.546G>T, NM_005272.4:c.546G>C, NM_005272.4:c.546G>A, NM_005272.3:c.546G>T, NM_005272.3:c.546G>C, NM_005272.3:c.546G>A, NM_001377295.2:c.546G>T, NM_001377295.2:c.546G>C, NM_001377295.2:c.546G>A, NM_001377295.1:c.546G>T, NM_001377295.1:c.546G>C, NM_001377295.1:c.546G>A, NM_001379232.1:c.546G>T, NM_001379232.1:c.546G>C, NM_001379232.1:c.546G>A

Select item 23043552.

rs2304355 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:109612902 (GRCh38)
1:110155524 (GRCh37)
Canonical SPDI:: NC_000001.11:109612901:T:C
Gene:: GNAT2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.157287/33223 (ALFA)
C=0.020833/2 (PRJEB36033)
C=0.082/1374 (TOMMO)
C=0.090102/264 (KOREAN)
C=0.090611/166 (Korea1K)
C=0.109408/207 (HapMap)
C=0.113333/68 (NorthernSweden)
C=0.114203/238 (HGDP_Stanford)
C=0.117895/590 (1000Genomes)
C=0.12037/26 (Qatari)
C=0.125879/33319 (TOPMED)
C=0.128289/39 (FINRISK)
C=0.128455/79 (Vietnamese)
C=0.128568/18009 (GnomAD)
C=0.131086/70 (MGP)
C=0.134169/1745 (GoESP)
C=0.147295/147 (GoNL)
C=0.15/6 (GENOME_DK)
C=0.152561/18520 (ExAC)
C=0.152926/38290 (GnomAD_exomes)
C=0.157497/584 (TWINSUK)
C=0.164504/634 (ALSPAC)
C=0.169866/761 (Estonian)
T=0.435065/67 (SGDP_PRJ)
T=0.5/7 (Siberian)
HGVS:: NC_000001.11:g.109612902T>C, NC_000001.10:g.110155524T>C, NG_009099.1:g.5182A>G, NM_005272.5:c.-32A>G, NM_005272.4:c.-32A>G, NM_005272.3:c.-32A>G, NM_001377295.2:c.-32A>G, NM_001377295.1:c.-32A>G, NM_001379232.1:c.-32A>G

Select item 37387663.

rs3738766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:109608773 (GRCh38)
1:110151395 (GRCh37)
Canonical SPDI:: NC_000001.11:109608772:G:C,NC_000001.11:109608772:G:T
Gene:: GNAT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.028452/8217 (ALFA)
T=0.01/6 (NorthernSweden)
T=0.017146/223 (GoESP)
T=0.024872/3488 (GnomAD)
T=0.025/1 (GENOME_DK)
T=0.02505/25 (GoNL)
T=0.027995/7410 (TOPMED)
T=0.028125/126 (Estonian)
T=0.036184/11 (FINRISK)
T=0.039326/21 (MGP)
T=0.046644/3669 (PAGE_STUDY)
T=0.050135/6077 (ExAC)
T=0.050367/12664 (GnomAD_exomes)
T=0.078704/17 (Qatari)
T=0.085103/426 (1000Genomes)
T=0.085729/161 (HapMap)
T=0.186689/547 (KOREAN)
T=0.203603/373 (Korea1K)
T=0.204427/157 (PRJEB37584)
T=0.234357/3928 (TOMMO)
T=0.25/153 (Vietnamese)
G=0.333333/2 (Siberian)
G=0.453488/39 (SGDP_PRJ)
HGVS:: NC_000001.11:g.109608773G>C, NC_000001.11:g.109608773G>T, NC_000001.10:g.110151395G>C, NC_000001.10:g.110151395G>T, NG_009099.1:g.9311C>G, NG_009099.1:g.9311C>A, NM_005272.5:c.319C>G, NM_005272.5:c.319C>A, NM_005272.4:c.319C>G, NM_005272.4:c.319C>A, NM_005272.3:c.319C>G, NM_005272.3:c.319C>A, NM_001377295.2:c.319C>G, NM_001377295.2:c.319C>A, NM_001377295.1:c.319C>G, NM_001377295.1:c.319C>A, NM_001379232.1:c.319C>G, NM_001379232.1:c.319C>A, NP_005263.1:p.Leu107Val, NP_005263.1:p.Leu107Ile, NP_001364224.1:p.Leu107Val, NP_001364224.1:p.Leu107Ile, NP_001366161.1:p.Leu107Val, NP_001366161.1:p.Leu107Ile

Select item 66698024.

rs6669802 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:109620454 (GRCh38)
1:110163076 (GRCh37)
Canonical SPDI:: NC_000001.11:109620453:A:G,NC_000001.11:109620453:A:T
Gene:: AMPD2 (Varview), GNAT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.485333/16280 (ALFA)
A=0.028206/473 (TOMMO)
A=0.028328/83 (KOREAN)
A=0.039301/72 (Korea1K)
A=0.056604/12 (Vietnamese)
A=0.184647/89 (SGDP_PRJ)
A=0.288462/15 (Siberian)
G=0.368914/197 (MGP)
A=0.369457/1850 (1000Genomes)
A=0.375/81 (Qatari)
A=0.405/243 (NorthernSweden)
A=0.455912/455 (GoNL)
A=0.465956/123334 (TOPMED)
A=0.474053/1827 (ALSPAC)
A=0.479047/67010 (GnomAD)
A=0.479234/1777 (TWINSUK)
G=0.493527/2211 (Estonian)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000001.11:g.109620454A>G, NC_000001.11:g.109620454A>T, NC_000001.10:g.110163076A>G, NC_000001.10:g.110163076A>T, NG_034075.1:g.5642A>G, NG_034075.1:g.5642A>T

Select item 120467875.

rs12046787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109608723 (GRCh38)
1:110151345 (GRCh37)
Canonical SPDI:: NC_000001.11:109608722:G:A
Gene:: GNAT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000182/5 (ALFA)
A=0.000278/39 (GnomAD)
A=0.000393/104 (TOPMED)
A=0.000774/94 (ExAC)
A=0.001026/258 (GnomAD_exomes)
A=0.001628/27 (TOMMO)
A=0.002342/12 (1000Genomes)
A=0.003422/10 (KOREAN)
A=0.004367/8 (Korea1K)
A=0.006944/4 (HapMap)
A=0.01634/10 (Vietnamese)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.109608723G>A, NC_000001.10:g.110151345G>A, NG_009099.1:g.9361C>T, NM_005272.5:c.369C>T, NM_005272.4:c.369C>T, NM_005272.3:c.369C>T, NM_001377295.2:c.369C>T, NM_001377295.1:c.369C>T, NM_001379232.1:c.369C>T

Select item 283625806.

rs28362580 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:109620296 (GRCh38)
1:110162918 (GRCh37)
Canonical SPDI:: NC_000001.11:109620295:T:C
Gene:: AMPD2 (Varview), GNAT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.07614/3433 (ALFA)
C=0.016667/10 (NorthernSweden)
C=0.046429/208 (Estonian)
C=0.05/2 (GENOME_DK)
C=0.051102/51 (GoNL)
C=0.055921/17 (FINRISK)
C=0.056904/211 (TWINSUK)
C=0.064349/248 (ALSPAC)
C=0.086142/46 (MGP)
C=0.091958/1196 (GoESP)
C=0.093857/13130 (GnomAD)
C=0.100291/26546 (TOPMED)
C=0.109952/27577 (GnomAD_exomes)
C=0.113595/13772 (ExAC)
C=0.162037/35 (Qatari)
C=0.179704/340 (HapMap)
C=0.184416/924 (1000Genomes)
C=0.245734/720 (KOREAN)
C=0.251638/461 (Korea1K)
C=0.259999/4358 (TOMMO)
C=0.301325/182 (Vietnamese)
T=0.333333/2 (Siberian)
T=0.423077/77 (SGDP_PRJ)
HGVS:: NC_000001.11:g.109620296T>C, NC_000001.10:g.110162918T>C, NG_034075.1:g.5484T>C

Select item 283625817.

rs28362581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109621257 (GRCh38)
1:110163879 (GRCh37)
Canonical SPDI:: NC_000001.11:109621256:G:A
Gene:: AMPD2 (Varview), GNAT2 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,missense_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.070306/17246 (ALFA)
A=0.001873/1 (MGP)
A=0.013333/8 (NorthernSweden)
A=0.04308/193 (Estonian)
A=0.052632/2 (GENOME_DK)
A=0.052859/196 (TWINSUK)
A=0.057554/16 (FINRISK)
A=0.059938/231 (ALSPAC)
A=0.112744/27374 (GnomAD_exomes)
A=0.129253/1679 (GoESP)
A=0.130842/18338 (GnomAD)
A=0.134458/13562 (ExAC)
A=0.140326/37143 (TOPMED)
A=0.189815/41 (Qatari)
A=0.202493/15935 (PAGE_STUDY)
A=0.233604/1170 (1000Genomes)
A=0.24471/717 (KOREAN)
A=0.247797/450 (Korea1K)
A=0.26136/4380 (TOMMO)
A=0.267624/205 (PRJEB37584)
A=0.311881/189 (Vietnamese)
G=0.333333/2 (Siberian)
G=0.40625/78 (SGDP_PRJ)
HGVS:: NC_000001.11:g.109621257G>A, NC_000001.10:g.110163879G>A, NG_034075.1:g.6445G>A, NM_004037.9:c.82G>A, NM_004037.8:c.82G>A, NM_004037.7:c.244G>A, NM_001368809.2:c.82G>A, NM_001368809.1:c.82G>A, NM_001257360.1:c.244G>A, NM_001308170.1:c.150G>A, NM_001257360.2:c.244G>A, NP_004028.4:p.Ala28Thr, NP_001355738.1:p.Ala28Thr

Select item 347232898.

rs34723289 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109603486 (GRCh38)
1:110146108 (GRCh37)
Canonical SPDI:: NC_000001.11:109603485:A:G
Gene:: GNAT2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: uncertain-significance,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.005615/288 (ALFA)
G=0.002342/12 (1000Genomes)
G=0.003563/943 (TOPMED)
G=0.003921/51 (GoESP)
G=0.005161/724 (GnomAD)
G=0.005199/631 (ExAC)
G=0.005347/1344 (GnomAD_exomes)
G=0.005618/3 (MGP)
G=0.005663/21 (TWINSUK)
G=0.005682/1 (HapMap)
G=0.005968/23 (ALSPAC)
G=0.008333/5 (NorthernSweden)
G=0.009868/3 (FINRISK)
G=0.012024/12 (GoNL)
G=0.01317/59 (Estonian)
A=0.5/1 (SGDP_PRJ)
A=0.5/1 (Siberian)
HGVS:: NC_000001.11:g.109603486A>G, NC_000001.10:g.110146108A>G, NG_009099.1:g.14598T>C, NM_005272.5:c.933T>C, NM_005272.4:c.933T>C, NM_005272.3:c.933T>C, NM_001377295.2:c.933T>C, NM_001377295.1:c.933T>C, NM_001379232.1:c.933T>C

Select item 412803309.

rs41280330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:109608722 (GRCh38)
1:110151344 (GRCh37)
Canonical SPDI:: NC_000001.11:109608721:C:G,NC_000001.11:109608721:C:T
Gene:: GNAT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.004856/274 (ALFA)
T=0.002033/160 (PAGE_STUDY)
T=0.002655/13 (1000Genomes)
T=0.003745/2 (MGP)
T=0.004279/600 (GnomAD)
T=0.004459/58 (GoESP)
T=0.00463/1 (Qatari)
T=0.00515/1295 (GnomAD_exomes)
T=0.005445/661 (ExAC)
T=0.006472/24 (TWINSUK)
T=0.007784/30 (ALSPAC)
T=0.007812/35 (Estonian)
T=0.009868/3 (FINRISK)
T=0.011022/11 (GoNL)
T=0.025/15 (NorthernSweden)
C=0.5/1 (SGDP_PRJ)
C=0.5/1 (Siberian)
HGVS:: NC_000001.11:g.109608722C>G, NC_000001.11:g.109608722C>T, NC_000001.10:g.110151344C>G, NC_000001.10:g.110151344C>T, NG_009099.1:g.9362G>C, NG_009099.1:g.9362G>A, NM_005272.5:c.370G>C, NM_005272.5:c.370G>A, NM_005272.4:c.370G>C, NM_005272.4:c.370G>A, NM_005272.3:c.370G>C, NM_005272.3:c.370G>A, NM_001377295.2:c.370G>C, NM_001377295.2:c.370G>A, NM_001377295.1:c.370G>C, NM_001377295.1:c.370G>A, NM_001379232.1:c.370G>C, NM_001379232.1:c.370G>A, NP_005263.1:p.Val124Leu, NP_005263.1:p.Val124Met, NP_001364224.1:p.Val124Leu, NP_001364224.1:p.Val124Met, NP_001366161.1:p.Val124Leu, NP_001366161.1:p.Val124Met

PubMed

Select item 5564662910.

rs55646629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109619926 (GRCh38)
1:110162548 (GRCh37)
Canonical SPDI:: NC_000001.11:109619925:C:T
Gene:: AMPD2 (Varview), GNAT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.098489/1890 (ALFA)
T=0.015/9 (NorthernSweden)
T=0.045982/206 (Estonian)
T=0.05/2 (GENOME_DK)
T=0.051102/51 (GoNL)
T=0.057713/214 (TWINSUK)
T=0.064868/250 (ALSPAC)
T=0.128969/18081 (GnomAD)
T=0.137621/36427 (TOPMED)
T=0.175926/38 (Qatari)
T=0.227358/1139 (1000Genomes)
T=0.244194/715 (KOREAN)
T=0.251638/461 (Korea1K)
T=0.260176/4360 (TOMMO)
T=0.328571/69 (Vietnamese)
C=0.333333/2 (Siberian)
C=0.414894/78 (SGDP_PRJ)
HGVS:: NC_000001.11:g.109619926C>T, NC_000001.10:g.110162548C>T, NG_034075.1:g.5114C>T, NM_139156.4:c.-343C>T, NM_139156.3:c.-343C>T, NM_001368809.2:c.-615C>T, NM_001368809.1:c.-615C>T, NM_001257360.1:c.-453C>T, NM_001257360.2:c.-453C>T

Select item 5607925511.

rs56079255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109619568 (GRCh38)
1:110162190 (GRCh37)
Canonical SPDI:: NC_000001.11:109619567:C:T
Gene:: AMPD2 (Varview), GNAT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,5_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0426/822 (ALFA)
T=0.000035/1 (TOMMO)
T=0.014522/73 (1000Genomes)
T=0.029861/7904 (TOPMED)
T=0.03168/4445 (GnomAD)
T=0.056667/34 (NorthernSweden)
T=0.06317/283 (Estonian)
T=0.068136/68 (GoNL)
T=0.175/7 (GENOME_DK)
C=0.5/6 (SGDP_PRJ)
HGVS:: NC_000001.11:g.109619568C>T, NC_000001.10:g.110162190C>T, NG_034075.1:g.4756C>T, NM_001377295.2:c.-139G>A

Select item 6175462712.

rs61754627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109603362 (GRCh38)
1:110145984 (GRCh37)
Canonical SPDI:: NC_000001.11:109603361:G:A
Gene:: GNAT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000198/7 (ALFA)
A=0.000034/4 (ExAC)
A=0.000044/11 (GnomAD_exomes)
A=0.000086/12 (GnomAD)
A=0.000091/24 (TOPMED)
A=0.000154/2 (GoESP)
HGVS:: NC_000001.11:g.109603362G>A, NC_000001.10:g.110145984G>A, NG_009099.1:g.14722C>T, NM_005272.5:c.1057C>T, NM_005272.4:c.1057C>T, NM_005272.3:c.1057C>T, NM_001377295.2:c.1057C>T, NM_001377295.1:c.1057C>T, NM_001379232.1:c.1057C>T, NP_005263.1:p.Leu353Phe, NP_001364224.1:p.Leu353Phe, NP_001366161.1:p.Leu353Phe

Select item 7753991113.

rs77539911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:109619696 (GRCh38)
1:110162318 (GRCh37)
Canonical SPDI:: NC_000001.11:109619695:G:C
Gene:: AMPD2 (Varview), GNAT2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003745/54 (ALFA)
C=0.005108/1352 (TOPMED)
C=0.005267/739 (GnomAD)
C=0.008588/43 (1000Genomes)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000001.11:g.109619696G>C, NC_000001.10:g.110162318G>C, NG_034075.1:g.4884G>C

Select item 11238707614.

rs112387076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:109621344 (GRCh38)
1:110163966 (GRCh37)
Canonical SPDI:: NC_000001.11:109621343:C:A,NC_000001.11:109621343:C:G
Gene:: AMPD2 (Varview), GNAT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.004827/113 (ALFA)
A=0.001858/326 (GnomAD_exomes)
A=0.003848/126 (ExAC)
A=0.00888/1237 (GnomAD)
A=0.009057/45 (1000Genomes)
A=0.009259/2 (Qatari)
A=0.009672/2560 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.109621344C>A, NC_000001.11:g.109621344C>G, NC_000001.10:g.110163966C>A, NC_000001.10:g.110163966C>G, NG_034075.1:g.6532C>A, NG_034075.1:g.6532C>G

Select item 11480406615.

rs114804066 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109620373 (GRCh38)
1:110162995 (GRCh37)
Canonical SPDI:: NC_000001.11:109620372:A:G
Gene:: AMPD2 (Varview), GNAT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.009099/234 (ALFA)
G=0.003435/17 (1000Genomes)
G=0.003745/2 (MGP)
G=0.006026/1595 (TOPMED)
G=0.007273/1020 (GnomAD)
G=0.008322/38 (GoESP)
G=0.008333/5 (NorthernSweden)
G=0.01002/10 (GoNL)
G=0.010119/39 (ALSPAC)
G=0.012723/57 (Estonian)
G=0.012945/48 (TWINSUK)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.109620373A>G, NC_000001.10:g.110162995A>G, NG_034075.1:g.5561A>G

Select item 11668831716.

rs116688317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:109603304 (GRCh38)
1:110145926 (GRCh37)
Canonical SPDI:: NC_000001.11:109603303:C:G
Gene:: GNAT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.003077/86 (ALFA)
G=0.001093/5 (1000Genomes)
G=0.001667/1 (NorthernSweden)
G=0.002009/9 (Estonian)
G=0.002855/688 (GnomAD_exomes)
G=0.002866/315 (ExAC)
G=0.003083/816 (TOPMED)
G=0.003111/436 (GnomAD)
G=0.003373/13 (ALSPAC)
G=0.003745/2 (MGP)
G=0.003998/52 (GoESP)
G=0.005124/19 (TWINSUK)
G=0.007014/7 (GoNL)
HGVS:: NC_000001.11:g.109603304C>G, NC_000001.10:g.110145926C>G, NG_009099.1:g.14780G>C, NM_005272.5:c.*50G>C, NM_005272.4:c.*50G>C, NM_005272.3:c.*50G>C, NM_001377295.2:c.*50G>C, NM_001377295.1:c.*50G>C, NM_001379232.1:c.*50G>C

Select item 11681975517.

rs116819755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:109612999 (GRCh38)
1:110155621 (GRCh37)
Canonical SPDI:: NC_000001.11:109612998:T:C
Gene:: GNAT2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003922/101 (ALFA)
C=0./0 (TWINSUK)
C=0.000259/1 (ALSPAC)
C=0.009174/1286 (GnomAD)
C=0.009213/46 (1000Genomes)
C=0.010144/2685 (TOPMED)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.109612999T>C, NC_000001.10:g.110155621T>C, NG_009099.1:g.5085A>G, NM_005272.5:c.-129A>G, NM_005272.4:c.-129A>G, NM_005272.3:c.-129A>G

Select item 12143458518.

rs121434585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109610108 (GRCh38)
1:110152730 (GRCh37)
Canonical SPDI:: NC_000001.11:109610107:G:A
Gene:: GNAT2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.109610108G>A, NC_000001.10:g.110152730G>A, NG_009099.1:g.7976C>T, NM_005272.5:c.235C>T, NM_005272.4:c.235C>T, NM_005272.3:c.235C>T, NM_001377295.2:c.235C>T, NM_001377295.1:c.235C>T, NM_001379232.1:c.235C>T, NP_005263.1:p.Gln79Ter, NP_001364224.1:p.Gln79Ter, NP_001366161.1:p.Gln79Ter

Select item 13931402919.

rs139314029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:109603453 (GRCh38)
1:110146075 (GRCh37)
Canonical SPDI:: NC_000001.11:109603452:G:C
Gene:: GNAT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000042/11 (TOPMED)
C=0.000154/2 (GoESP)
HGVS:: NC_000001.11:g.109603453G>C, NC_000001.10:g.110146075G>C, NG_009099.1:g.14631C>G, NM_005272.5:c.966C>G, NM_005272.4:c.966C>G, NM_005272.3:c.966C>G, NM_001377295.2:c.966C>G, NM_001377295.1:c.966C>G, NM_001379232.1:c.966C>G, NP_005263.1:p.His322Gln, NP_001364224.1:p.His322Gln, NP_001366161.1:p.His322Gln

Select item 14023130820.

rs140231308 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109606072 (GRCh38)
1:110148694 (GRCh37)
Canonical SPDI:: NC_000001.11:109606071:G:A
Gene:: GNAT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/1 (ExAC)
A=0.000012/3 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
A=0.000077/1 (GoESP)
HGVS:: NC_000001.11:g.109606072G>A, NC_000001.10:g.110148694G>A, NG_009099.1:g.12012C>T, NM_005272.5:c.618C>T, NM_005272.4:c.618C>T, NM_005272.3:c.618C>T, NM_001377295.2:c.618C>T, NM_001377295.1:c.618C>T, NM_001379232.1:c.618C>T

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