"human"[ORGN] and TG - SNP

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Select item 1801951.

rs180195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:132865378 (GRCh38)
8:133877623 (GRCh37)
Canonical SPDI:: NC_000008.11:132865377:A:C,NC_000008.11:132865377:A:G
Gene:: TG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: risk-factor
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.427878/6170 (ALFA)
A=0.257697/4319 (TOMMO)
A=0.264706/126 (SGDP_PRJ)
A=0.279863/820 (KOREAN)
A=0.314815/17 (Siberian)
A=0.331776/71 (Vietnamese)
A=0.35/14 (GENOME_DK)
A=0.355346/113 (HapMap)
A=0.407089/2039 (1000Genomes)
A=0.409558/1834 (Estonian)
A=0.416449/110230 (TOPMED)
A=0.418333/251 (NorthernSweden)
A=0.419123/58658 (GnomAD)
A=0.423948/1572 (TWINSUK)
A=0.434354/1674 (ALSPAC)
A=0.439815/95 (Qatari)
A=0.45491/454 (GoNL)
HGVS:: NC_000008.11:g.132865378A>C, NC_000008.11:g.132865378A>G, NC_000008.10:g.133877623A>C, NC_000008.10:g.133877623A>G, NG_015832.2:g.3422A>C, NG_015832.2:g.3422A>G, NG_015832.1:g.3419A>C, NG_015832.1:g.3419A>G

PubMed LitVar

Select item 1802022.

rs180202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:132867967 (GRCh38)
8:133880212 (GRCh37)
Canonical SPDI:: NC_000008.11:132867966:G:A,NC_000008.11:132867966:G:T
Gene:: TG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.291106/5499 (ALFA)
G=0.182927/60 (HapMap)
G=0.205179/103 (SGDP_PRJ)
G=0.257803/4321 (TOMMO)
G=0.258397/68395 (TOPMED)
G=0.261378/36605 (GnomAD)
G=0.269363/1349 (1000Genomes)
G=0.280396/821 (KOREAN)
G=0.285714/16 (Siberian)
G=0.307589/1378 (Estonian)
G=0.313333/188 (NorthernSweden)
G=0.325/13 (GENOME_DK)
G=0.328704/71 (Qatari)
G=0.334682/1241 (TWINSUK)
G=0.334906/71 (Vietnamese)
G=0.337052/1299 (ALSPAC)
G=0.341683/341 (GoNL)
HGVS:: NC_000008.11:g.132867967G>A, NC_000008.11:g.132867967G>T, NC_000008.10:g.133880212G>A, NC_000008.10:g.133880212G>T, NG_015832.2:g.6011G>A, NG_015832.2:g.6011G>T, NG_015832.1:g.6008G>A, NG_015832.1:g.6008G>T

PubMed

Select item 1802033.

rs180203 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:132868089 (GRCh38)
8:133880334 (GRCh37)
Canonical SPDI:: NC_000008.11:132868088:T:A,NC_000008.11:132868088:T:C
Gene:: TG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.005541/150 (ALFA)
T=0./0 (GENOME_DK)
A=0./0 (KOREAN)
T=0./0 (Korea1K)
T=0./0 (Qatari)
T=0./0 (Siberian)
T=0./0 (TOMMO)
T=0.001792/1 (SGDP_PRJ)
T=0.002498/13 (1000Genomes)
T=0.003289/1 (FINRISK)
T=0.003795/17 (Estonian)
T=0.004008/4 (GoNL)
T=0.004951/1243 (GnomAD_exomes)
T=0.005/3 (NorthernSweden)
T=0.005141/624 (ExAC)
T=0.005369/753 (GnomAD)
T=0.005856/1550 (TOPMED)
T=0.00692/90 (GoESP)
T=0.0089/33 (TWINSUK)
T=0.011236/6 (MGP)
T=0.011936/46 (ALSPAC)
HGVS:: NC_000008.11:g.132868089T>A, NC_000008.11:g.132868089T>C, NC_000008.10:g.133880334T>A, NC_000008.10:g.133880334T>C, NG_015832.2:g.6133T>A, NG_015832.2:g.6133T>C, NG_015832.1:g.6130T>A, NG_015832.1:g.6130T>C

Select item 1802084.

rs180208 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:132871775 (GRCh38)
8:133884020 (GRCh37)
Canonical SPDI:: NC_000008.11:132871774:T:C
Gene:: TG (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.45643/13189 (ALFA)
T=0.284753/127 (SGDP_PRJ)
T=0.332791/5578 (TOMMO)
T=0.35/14 (GENOME_DK)
T=0.351852/19 (Siberian)
T=0.36587/1072 (KOREAN)
T=0.370087/678 (Korea1K)
T=0.424757/1575 (TWINSUK)
T=0.426667/256 (NorthernSweden)
T=0.435132/1677 (ALSPAC)
T=0.436161/1954 (Estonian)
T=0.452381/95 (Vietnamese)
T=0.45491/454 (GoNL)
T=0.462963/100 (Qatari)
T=0.471865/124898 (TOPMED)
T=0.472987/893 (HapMap)
T=0.47577/66644 (GnomAD)
T=0.478763/2398 (1000Genomes)
HGVS:: NC_000008.11:g.132871775T>C, NC_000008.10:g.133884020T>C, NG_015832.2:g.9819T>C, NG_015832.1:g.9816T>C

Select item 1802105.

rs180210 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:132873309 (GRCh38)
8:133885554 (GRCh37)
Canonical SPDI:: NC_000008.11:132873308:T:A,NC_000008.11:132873308:T:C
Gene:: TG (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.431973/7747 (ALFA)
T=0.257626/4318 (TOMMO)
T=0.264706/126 (SGDP_PRJ)
T=0.279863/820 (KOREAN)
T=0.314815/17 (Siberian)
T=0.34434/73 (Vietnamese)
T=0.35/14 (GENOME_DK)
T=0.410938/1841 (Estonian)
T=0.412555/2066 (1000Genomes)
T=0.418333/251 (NorthernSweden)
T=0.420979/111429 (TOPMED)
T=0.423148/59239 (GnomAD)
T=0.424488/1574 (TWINSUK)
T=0.425926/92 (Qatari)
T=0.434613/1675 (ALSPAC)
T=0.45491/454 (GoNL)
T=0.481481/26 (PRJEB36033)
C=0.490637/262 (MGP)
HGVS:: NC_000008.11:g.132873309T>A, NC_000008.11:g.132873309T>C, NC_000008.10:g.133885554T>A, NC_000008.10:g.133885554T>C, NG_015832.2:g.11353T>A, NG_015832.2:g.11353T>C, NG_015832.1:g.11350T>A, NG_015832.1:g.11350T>C

Select item 1802176.

rs180217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:132882257 (GRCh38)
8:133894502 (GRCh37)
Canonical SPDI:: NC_000008.11:132882256:C:A,NC_000008.11:132882256:C:G,NC_000008.11:132882256:C:T
Gene:: TG (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.449673/89904 (ALFA)
G=0./0 (KOREAN)
T=0.003745/2 (MGP)
C=0.285068/126 (SGDP_PRJ)
C=0.349636/5860 (TOMMO)
C=0.35/14 (GENOME_DK)
C=0.35/28 (PRJEB36033)
C=0.351852/19 (Siberian)
C=0.376638/690 (Korea1K)
C=0.421305/878 (HGDP_Stanford)
C=0.425027/1576 (TWINSUK)
C=0.426667/256 (NorthernSweden)
C=0.435392/1678 (ALSPAC)
C=0.436607/1956 (Estonian)
C=0.453908/453 (GoNL)
C=0.466981/99 (Vietnamese)
C=0.467067/123628 (TOPMED)
C=0.471621/66075 (GnomAD)
C=0.472222/102 (Qatari)
C=0.475328/2380 (1000Genomes)
C=0.478858/906 (HapMap)
HGVS:: NC_000008.11:g.132882257C>A, NC_000008.11:g.132882257C>G, NC_000008.11:g.132882257C>T, NC_000008.10:g.133894502C>A, NC_000008.10:g.133894502C>G, NC_000008.10:g.133894502C>T, NG_015832.2:g.20301C>A, NG_015832.2:g.20301C>G, NG_015832.2:g.20301C>T, NG_015832.1:g.20298C>A, NG_015832.1:g.20298C>G, NG_015832.1:g.20298C>T

Select item 1802227.

rs180222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:132886915 (GRCh38)
8:133899160 (GRCh37)
Canonical SPDI:: NC_000008.11:132886914:C:G
Gene:: TG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.022203/1126 (ALFA)
G=0.009838/49 (1000Genomes)
G=0.01075/846 (PAGE_STUDY)
G=0.011022/11 (GoNL)
G=0.013763/179 (GoESP)
G=0.015891/2227 (GnomAD)
G=0.01617/4280 (TOPMED)
G=0.01634/4098 (GnomAD_exomes)
G=0.01637/1973 (ExAC)
G=0.019201/74 (ALSPAC)
G=0.019687/73 (TWINSUK)
G=0.019866/89 (Estonian)
G=0.02/12 (NorthernSweden)
G=0.021341/7 (HapMap)
G=0.023026/7 (FINRISK)
G=0.033569/38 (Daghestan)
G=0.035581/19 (MGP)
G=0.092593/20 (Qatari)
C=0.458333/11 (SGDP_PRJ)
C=0.5/4 (Siberian)
HGVS:: NC_000008.11:g.132886915C>G, NC_000008.10:g.133899160C>G, NG_015832.2:g.24959C>G, NG_015832.1:g.24956C>G, NM_003235.5:c.1543C>G, NM_003235.4:c.1543C>G, XM_005251038.5:c.1543C>G, XM_005251038.4:c.1543C>G, XM_005251038.3:c.1543C>G, XM_005251038.2:c.1543C>G, XM_005251038.1:c.1543C>G, XM_005251040.5:c.1543C>G, XM_005251040.4:c.1543C>G, XM_005251040.3:c.1543C>G, XM_005251040.2:c.1543C>G, XM_005251040.1:c.1543C>G, XM_005251042.5:c.1543C>G, XM_005251042.4:c.1543C>G, XM_005251042.3:c.1543C>G, XM_005251042.2:c.1543C>G, XM_005251042.1:c.1543C>G, XM_006716622.4:c.1543C>G, XM_006716622.3:c.1543C>G, XM_006716622.2:c.1543C>G, XM_006716622.1:c.1543C>G, XM_017013793.2:c.1543C>G, XM_017013793.1:c.1543C>G, XM_017013794.2:c.1543C>G, XM_017013794.1:c.1543C>G, XM_017013795.2:c.1543C>G, XM_017013795.1:c.1543C>G, XM_017013796.2:c.1543C>G, XM_017013796.1:c.1543C>G, XM_017013798.2:c.1543C>G, XM_017013798.1:c.1543C>G, XM_017013800.2:c.1543C>G, XM_017013800.1:c.1543C>G, XM_017013799.2:c.1543C>G, XM_017013799.1:c.1543C>G, XM_047422166.1:c.1282C>G, NP_003226.4:p.Gln515Glu, XP_005251095.1:p.Gln515Glu, XP_005251097.1:p.Gln515Glu, XP_005251099.1:p.Gln515Glu, XP_006716685.1:p.Gln515Glu, XP_016869282.1:p.Gln515Glu, XP_016869283.1:p.Gln515Glu, XP_016869284.1:p.Gln515Glu, XP_016869285.1:p.Gln515Glu, XP_016869287.1:p.Gln515Glu, XP_016869289.1:p.Gln515Glu, XP_016869288.1:p.Gln515Glu, XP_047278122.1:p.Gln428Glu

Select item 1802238.

rs180223 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 8:132888007 (GRCh38)
8:133900252 (GRCh37)
Canonical SPDI:: NC_000008.11:132888006:T:A,NC_000008.11:132888006:T:C,NC_000008.11:132888006:T:G
Gene:: TG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: risk-factor,benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.463911/82925 (ALFA)
T=0.230392/141 (Vietnamese)
T=0.233668/3916 (TOMMO)
T=0.241228/110 (SGDP_PRJ)
T=0.243003/712 (KOREAN)
T=0.244845/190 (PRJEB37584)
T=0.305644/574 (HapMap)
T=0.325109/1628 (1000Genomes)
T=0.390842/103452 (TOPMED)
T=0.413333/124 (FINRISK)
T=0.416667/90 (Qatari)
T=0.431818/19 (Siberian)
T=0.460674/246 (MGP)
T=0.466934/466 (GoNL)
T=0.482097/1858 (ALSPAC)
G=0.483333/290 (NorthernSweden)
T=0.489942/2192 (Estonian)
T=0.493258/1829 (TWINSUK)
T=0.5/20 (GENOME_DK)
HGVS:: NC_000008.11:g.132888007T>A, NC_000008.11:g.132888007T>C, NC_000008.11:g.132888007T>G, NC_000008.10:g.133900252T>A, NC_000008.10:g.133900252T>C, NC_000008.10:g.133900252T>G, NG_015832.2:g.26051T>A, NG_015832.2:g.26051T>C, NG_015832.2:g.26051T>G, NG_015832.1:g.26048T>A, NG_015832.1:g.26048T>C, NG_015832.1:g.26048T>G, NM_003235.5:c.2200T>A, NM_003235.5:c.2200T>C, NM_003235.5:c.2200T>G, NM_003235.4:c.2200T>A, NM_003235.4:c.2200T>C, NM_003235.4:c.2200T>G, XM_005251038.5:c.2200T>A, XM_005251038.5:c.2200T>C, XM_005251038.5:c.2200T>G, XM_005251038.4:c.2200T>A, XM_005251038.4:c.2200T>C, XM_005251038.4:c.2200T>G, XM_005251038.3:c.2200T>A, XM_005251038.3:c.2200T>C, XM_005251038.3:c.2200T>G, XM_005251038.2:c.2200T>A, XM_005251038.2:c.2200T>C, XM_005251038.2:c.2200T>G, XM_005251038.1:c.2200T>A, XM_005251038.1:c.2200T>C, XM_005251038.1:c.2200T>G, XM_005251040.5:c.2200T>A, XM_005251040.5:c.2200T>C, XM_005251040.5:c.2200T>G, XM_005251040.4:c.2200T>A, XM_005251040.4:c.2200T>C, XM_005251040.4:c.2200T>G, XM_005251040.3:c.2200T>A, XM_005251040.3:c.2200T>C, XM_005251040.3:c.2200T>G, XM_005251040.2:c.2200T>A, XM_005251040.2:c.2200T>C, XM_005251040.2:c.2200T>G, XM_005251040.1:c.2200T>A, XM_005251040.1:c.2200T>C, XM_005251040.1:c.2200T>G, XM_005251042.5:c.2200T>A, XM_005251042.5:c.2200T>C, XM_005251042.5:c.2200T>G, XM_005251042.4:c.2200T>A, XM_005251042.4:c.2200T>C, XM_005251042.4:c.2200T>G, XM_005251042.3:c.2200T>A, XM_005251042.3:c.2200T>C, XM_005251042.3:c.2200T>G, XM_005251042.2:c.2200T>A, XM_005251042.2:c.2200T>C, XM_005251042.2:c.2200T>G, XM_005251042.1:c.2200T>A, XM_005251042.1:c.2200T>C, XM_005251042.1:c.2200T>G, XM_006716622.4:c.2200T>A, XM_006716622.4:c.2200T>C, XM_006716622.4:c.2200T>G, XM_006716622.3:c.2200T>A, XM_006716622.3:c.2200T>C, XM_006716622.3:c.2200T>G, XM_006716622.2:c.2200T>A, XM_006716622.2:c.2200T>C, XM_006716622.2:c.2200T>G, XM_006716622.1:c.2200T>A, XM_006716622.1:c.2200T>C, XM_006716622.1:c.2200T>G, XM_017013793.2:c.2200T>A, XM_017013793.2:c.2200T>C, XM_017013793.2:c.2200T>G, XM_017013793.1:c.2200T>A, XM_017013793.1:c.2200T>C, XM_017013793.1:c.2200T>G, XM_017013794.2:c.2200T>A, XM_017013794.2:c.2200T>C, XM_017013794.2:c.2200T>G, XM_017013794.1:c.2200T>A, XM_017013794.1:c.2200T>C, XM_017013794.1:c.2200T>G, XM_017013795.2:c.2200T>A, XM_017013795.2:c.2200T>C, XM_017013795.2:c.2200T>G, XM_017013795.1:c.2200T>A, XM_017013795.1:c.2200T>C, XM_017013795.1:c.2200T>G, XM_017013796.2:c.2200T>A, XM_017013796.2:c.2200T>C, XM_017013796.2:c.2200T>G, XM_017013796.1:c.2200T>A, XM_017013796.1:c.2200T>C, XM_017013796.1:c.2200T>G, XM_017013798.2:c.2200T>A, XM_017013798.2:c.2200T>C, XM_017013798.2:c.2200T>G, XM_017013798.1:c.2200T>A, XM_017013798.1:c.2200T>C, XM_017013798.1:c.2200T>G, XM_017013800.2:c.2200T>A, XM_017013800.2:c.2200T>C, XM_017013800.2:c.2200T>G, XM_017013800.1:c.2200T>A, XM_017013800.1:c.2200T>C, XM_017013800.1:c.2200T>G, XM_017013799.2:c.2200T>A, XM_017013799.2:c.2200T>C, XM_017013799.2:c.2200T>G, XM_017013799.1:c.2200T>A, XM_017013799.1:c.2200T>C, XM_017013799.1:c.2200T>G, XM_047422166.1:c.1939T>A, XM_047422166.1:c.1939T>C, XM_047422166.1:c.1939T>G, NP_003226.4:p.Ser734Thr, NP_003226.4:p.Ser734Pro, NP_003226.4:p.Ser734Ala, XP_005251095.1:p.Ser734Thr, XP_005251095.1:p.Ser734Pro, XP_005251095.1:p.Ser734Ala, XP_005251097.1:p.Ser734Thr, XP_005251097.1:p.Ser734Pro, XP_005251097.1:p.Ser734Ala, XP_005251099.1:p.Ser734Thr, XP_005251099.1:p.Ser734Pro, XP_005251099.1:p.Ser734Ala, XP_006716685.1:p.Ser734Thr, XP_006716685.1:p.Ser734Pro, XP_006716685.1:p.Ser734Ala, XP_016869282.1:p.Ser734Thr, XP_016869282.1:p.Ser734Pro, XP_016869282.1:p.Ser734Ala, XP_016869283.1:p.Ser734Thr, XP_016869283.1:p.Ser734Pro, XP_016869283.1:p.Ser734Ala, XP_016869284.1:p.Ser734Thr, XP_016869284.1:p.Ser734Pro, XP_016869284.1:p.Ser734Ala, XP_016869285.1:p.Ser734Thr, XP_016869285.1:p.Ser734Pro, XP_016869285.1:p.Ser734Ala, XP_016869287.1:p.Ser734Thr, XP_016869287.1:p.Ser734Pro, XP_016869287.1:p.Ser734Ala, XP_016869289.1:p.Ser734Thr, XP_016869289.1:p.Ser734Pro, XP_016869289.1:p.Ser734Ala, XP_016869288.1:p.Ser734Thr, XP_016869288.1:p.Ser734Pro, XP_016869288.1:p.Ser734Ala, XP_047278122.1:p.Ser647Thr, XP_047278122.1:p.Ser647Pro, XP_047278122.1:p.Ser647Ala

PubMed LitVar

Select item 8532969.

rs853296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:132929381 (GRCh38)
8:133941626 (GRCh37)
Canonical SPDI:: NC_000008.11:132929380:T:G
Gene:: TG (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.461487/11839 (ALFA)
G=0.280374/60 (Vietnamese)
T=0.306061/101 (SGDP_PRJ)
G=0.317702/542 (HapMap)
G=0.345097/1728 (1000Genomes)
T=0.347826/16 (Siberian)
G=0.376092/689 (Korea1K)
G=0.377816/1107 (KOREAN)
G=0.389131/102999 (TOPMED)
G=0.390261/6541 (TOMMO)
G=0.399495/55966 (GnomAD)
T=0.4/16 (GENOME_DK)
G=0.412037/89 (Qatari)
T=0.42/252 (NorthernSweden)
T=0.463415/1786 (ALSPAC)
T=0.463928/463 (GoNL)
T=0.466559/1730 (TWINSUK)
T=0.479687/2149 (Estonian)
HGVS:: NC_000008.11:g.132929381T>G, NC_000008.10:g.133941626T>G, NG_015832.2:g.67425T>G, NG_015832.1:g.67422T>G

Select item 85330110.

rs853301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:132923198 (GRCh38)
8:133935443 (GRCh37)
Canonical SPDI:: NC_000008.11:132923197:A:G
Gene:: TG (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.430281/8128 (ALFA)
G=0.282407/61 (Vietnamese)
A=0.286458/110 (SGDP_PRJ)
A=0.315/189 (NorthernSweden)
A=0.34/17 (Siberian)
A=0.353707/353 (GoNL)
A=0.370005/1426 (ALSPAC)
A=0.375/15 (GENOME_DK)
G=0.376092/689 (Korea1K)
G=0.378498/1109 (KOREAN)
A=0.382147/1417 (TWINSUK)
A=0.382353/26 (PRJEB36033)
A=0.389732/1746 (Estonian)
G=0.390226/6540 (TOMMO)
G=0.39939/131 (HapMap)
A=0.421348/225 (MGP)
A=0.459941/64355 (GnomAD)
G=0.465178/2330 (1000Genomes)
A=0.471416/124779 (TOPMED)
G=0.476852/103 (Qatari)
HGVS:: NC_000008.11:g.132923198A>G, NC_000008.10:g.133935443A>G, NG_015832.2:g.61242A>G, NG_015832.1:g.61239A>G

Select item 85330411.

rs853304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:132919503 (GRCh38)
8:133931748 (GRCh37)
Canonical SPDI:: NC_000008.11:132919502:T:A,NC_000008.11:132919502:T:C
Gene:: TG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.399931/38371 (ALFA)
C=0.287582/176 (Vietnamese)
T=0.292763/89 (FINRISK)
T=0.293367/115 (SGDP_PRJ)
T=0.306667/184 (NorthernSweden)
T=0.346154/18 (Siberian)
T=0.351703/351 (GoNL)
T=0.366632/1413 (ALSPAC)
C=0.366894/1075 (KOREAN)
C=0.36845/675 (Korea1K)
T=0.370089/1658 (Estonian)
T=0.375/15 (GENOME_DK)
C=0.377238/6323 (TOMMO)
T=0.381068/1413 (TWINSUK)
T=0.405383/101705 (GnomAD_exomes)
T=0.408526/49582 (ExAC)
T=0.425094/227 (MGP)
C=0.440212/832 (HapMap)
T=0.449307/62912 (GnomAD)
T=0.460095/5984 (GoESP)
T=0.462711/122475 (TOPMED)
C=0.475796/2383 (1000Genomes)
T=0.49537/107 (Qatari)
HGVS:: NC_000008.11:g.132919503T>A, NC_000008.11:g.132919503T>C, NC_000008.10:g.133931748T>A, NC_000008.10:g.133931748T>C, NG_015832.2:g.57547T>A, NG_015832.2:g.57547T>C, NG_015832.1:g.57544T>A, NG_015832.1:g.57544T>C, NM_003235.5:c.4506T>A, NM_003235.5:c.4506T>C, NM_003235.4:c.4506T>A, NM_003235.4:c.4506T>C, XM_005251038.5:c.4506T>A, XM_005251038.5:c.4506T>C, XM_005251038.4:c.4506T>A, XM_005251038.4:c.4506T>C, XM_005251038.3:c.4506T>A, XM_005251038.3:c.4506T>C, XM_005251038.2:c.4506T>A, XM_005251038.2:c.4506T>C, XM_005251038.1:c.4506T>A, XM_005251038.1:c.4506T>C, XM_005251040.5:c.4506T>A, XM_005251040.5:c.4506T>C, XM_005251040.4:c.4506T>A, XM_005251040.4:c.4506T>C, XM_005251040.3:c.4506T>A, XM_005251040.3:c.4506T>C, XM_005251040.2:c.4506T>A, XM_005251040.2:c.4506T>C, XM_005251040.1:c.4506T>A, XM_005251040.1:c.4506T>C, XM_005251042.5:c.4506T>A, XM_005251042.5:c.4506T>C, XM_005251042.4:c.4506T>A, XM_005251042.4:c.4506T>C, XM_005251042.3:c.4506T>A, XM_005251042.3:c.4506T>C, XM_005251042.2:c.4506T>A, XM_005251042.2:c.4506T>C, XM_005251042.1:c.4506T>A, XM_005251042.1:c.4506T>C, XM_006716622.4:c.4506T>A, XM_006716622.4:c.4506T>C, XM_006716622.3:c.4506T>A, XM_006716622.3:c.4506T>C, XM_006716622.2:c.4506T>A, XM_006716622.2:c.4506T>C, XM_006716622.1:c.4506T>A, XM_006716622.1:c.4506T>C, XM_017013793.2:c.4506T>A, XM_017013793.2:c.4506T>C, XM_017013793.1:c.4506T>A, XM_017013793.1:c.4506T>C, XM_017013794.2:c.4506T>A, XM_017013794.2:c.4506T>C, XM_017013794.1:c.4506T>A, XM_017013794.1:c.4506T>C, XM_017013795.2:c.4506T>A, XM_017013795.2:c.4506T>C, XM_017013795.1:c.4506T>A, XM_017013795.1:c.4506T>C, XM_017013796.2:c.4287T>A, XM_017013796.2:c.4287T>C, XM_017013796.1:c.4287T>A, XM_017013796.1:c.4287T>C, XM_017013798.2:c.4506T>A, XM_017013798.2:c.4506T>C, XM_017013798.1:c.4506T>A, XM_017013798.1:c.4506T>C, XM_017013800.2:c.4506T>A, XM_017013800.2:c.4506T>C, XM_017013800.1:c.4506T>A, XM_017013800.1:c.4506T>C, XM_017013799.2:c.4506T>A, XM_017013799.2:c.4506T>C, XM_017013799.1:c.4506T>A, XM_017013799.1:c.4506T>C, XM_047422166.1:c.4245T>A, XM_047422166.1:c.4245T>C

PubMed

Select item 85331812.

rs853318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:132908379 (GRCh38)
8:133920624 (GRCh37)
Canonical SPDI:: NC_000008.11:132908378:C:G,NC_000008.11:132908378:C:T
Gene:: TG (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.449485/12564 (ALFA)
G=0.285714/174 (Vietnamese)
C=0.291429/102 (SGDP_PRJ)
C=0.305/183 (NorthernSweden)
C=0.34/17 (Siberian)
C=0.350701/350 (GoNL)
C=0.365179/1636 (Estonian)
G=0.366894/1075 (KOREAN)
G=0.367904/674 (Korea1K)
G=0.374646/6279 (TOMMO)
G=0.397564/1991 (1000Genomes)
C=0.423681/105016 (GnomAD_exomes)
C=0.430758/51765 (ExAC)
C=0.441667/53 (HapMap)
G=0.459402/121599 (TOPMED)
G=0.461249/5999 (GoESP)
G=0.467593/101 (Qatari)
C=0.498127/266 (MGP)
HGVS:: NC_000008.11:g.132908379C>G, NC_000008.11:g.132908379C>T, NC_000008.10:g.133920624C>G, NC_000008.10:g.133920624C>T, NG_015832.2:g.46423C>G, NG_015832.2:g.46423C>T, NG_015832.1:g.46420C>G, NG_015832.1:g.46420C>T

Select item 85331913.

rs853319 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:132907041 (GRCh38)
8:133919286 (GRCh37)
Canonical SPDI:: NC_000008.11:132907040:G:A,NC_000008.11:132907040:G:C,NC_000008.11:132907040:G:T
Gene:: TG (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.437644/20101 (ALFA)
G=0.301676/108 (SGDP_PRJ)
A=0.303681/99 (HapMap)
A=0.303738/65 (Vietnamese)
G=0.305/183 (NorthernSweden)
G=0.346154/18 (Siberian)
G=0.349699/349 (GoNL)
A=0.354949/1040 (KOREAN)
A=0.355349/651 (Korea1K)
A=0.363083/6085 (TOMMO)
G=0.364816/1406 (ALSPAC)
G=0.364955/1635 (Estonian)
G=0.375/15 (GENOME_DK)
G=0.378641/1404 (TWINSUK)
A=0.388039/1943 (1000Genomes)
A=0.456137/120735 (TOPMED)
A=0.467593/101 (Qatari)
A=0.474702/66445 (GnomAD)
G=0.5/42 (PRJEB36033)
HGVS:: NC_000008.11:g.132907041G>A, NC_000008.11:g.132907041G>C, NC_000008.11:g.132907041G>T, NC_000008.10:g.133919286G>A, NC_000008.10:g.133919286G>C, NC_000008.10:g.133919286G>T, NG_015832.2:g.45085G>A, NG_015832.2:g.45085G>C, NG_015832.2:g.45085G>T, NG_015832.1:g.45082G>A, NG_015832.1:g.45082G>C, NG_015832.1:g.45082G>T

Select item 85332214.

rs853322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:132901280 (GRCh38)
8:133913525 (GRCh37)
Canonical SPDI:: NC_000008.11:132901279:A:C,NC_000008.11:132901279:A:G
Gene:: TG (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.444154/10713 (ALFA)
G=0.348078/5834 (TOMMO)
G=0.35/14 (GENOME_DK)
A=0.354839/132 (SGDP_PRJ)
G=0.370902/1086 (KOREAN)
G=0.374454/686 (Korea1K)
G=0.411985/220 (MGP)
G=0.424757/1575 (TWINSUK)
G=0.425/255 (NorthernSweden)
G=0.430556/93 (Vietnamese)
G=0.433369/813 (HapMap)
G=0.43617/1681 (ALSPAC)
G=0.437054/1958 (Estonian)
G=0.445287/117863 (TOPMED)
G=0.449407/2251 (1000Genomes)
G=0.451361/63168 (GnomAD)
G=0.452906/452 (GoNL)
G=0.458333/99 (Qatari)
A=0.475/19 (Siberian)
HGVS:: NC_000008.11:g.132901280A>C, NC_000008.11:g.132901280A>G, NC_000008.10:g.133913525A>C, NC_000008.10:g.133913525A>G, NG_015832.2:g.39324A>C, NG_015832.2:g.39324A>G, NG_015832.1:g.39321A>C, NG_015832.1:g.39321A>G

Select item 85332315.

rs853323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:132899997 (GRCh38)
8:133912242 (GRCh37)
Canonical SPDI:: NC_000008.11:132899996:A:C,NC_000008.11:132899996:A:G
Gene:: TG (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.444044/8388 (ALFA)
C=0.338948/5681 (TOMMO)
C=0.35/14 (GENOME_DK)
A=0.352151/131 (SGDP_PRJ)
C=0.369625/1083 (KOREAN)
C=0.372817/683 (Korea1K)
C=0.40184/131 (HapMap)
C=0.419811/89 (Vietnamese)
C=0.424757/1575 (TWINSUK)
C=0.425/255 (NorthernSweden)
C=0.435911/1680 (ALSPAC)
C=0.437054/1958 (Estonian)
C=0.444214/117579 (TOPMED)
C=0.44925/2250 (1000Genomes)
C=0.450282/63016 (GnomAD)
C=0.452906/452 (GoNL)
C=0.458333/99 (Qatari)
A=0.475/19 (Siberian)
HGVS:: NC_000008.11:g.132899997A>C, NC_000008.11:g.132899997A>G, NC_000008.10:g.133912242A>C, NC_000008.10:g.133912242A>G, NG_015832.2:g.38041A>C, NG_015832.2:g.38041A>G, NG_015832.1:g.38038A>C, NG_015832.1:g.38038A>G

Select item 85332416.

rs853324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:132898717 (GRCh38)
8:133910962 (GRCh37)
Canonical SPDI:: NC_000008.11:132898716:T:C,NC_000008.11:132898716:T:G
Gene:: TG (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.313297/3586 (ALFA)
G=0.348149/5835 (TOMMO)
G=0.35/14 (GENOME_DK)
T=0.352151/131 (SGDP_PRJ)
G=0.361423/193 (MGP)
G=0.370307/1085 (KOREAN)
G=0.373908/685 (Korea1K)
G=0.424488/1574 (TWINSUK)
G=0.425/255 (NorthernSweden)
G=0.43643/1682 (ALSPAC)
G=0.436607/1956 (Estonian)
G=0.438679/93 (Vietnamese)
G=0.445219/117845 (TOPMED)
G=0.450187/2255 (1000Genomes)
G=0.452906/452 (GoNL)
G=0.453704/98 (Qatari)
T=0.475/19 (Siberian)
HGVS:: NC_000008.11:g.132898717T>C, NC_000008.11:g.132898717T>G, NC_000008.10:g.133910962T>C, NC_000008.10:g.133910962T>G, NG_015832.2:g.36761T>C, NG_015832.2:g.36761T>G, NG_015832.1:g.36758T>C, NG_015832.1:g.36758T>G

Select item 85332617.

rs853326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:132897729 (GRCh38)
8:133909974 (GRCh37)
Canonical SPDI:: NC_000008.11:132897728:A:G
Gene:: TG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: risk-factor,benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.455651/163574 (ALFA)
A=0.226384/139 (Vietnamese)
A=0.236641/3966 (TOMMO)
A=0.239035/109 (SGDP_PRJ)
A=0.248092/195 (PRJEB37584)
A=0.249829/732 (KOREAN)
A=0.308668/584 (HapMap)
A=0.326202/1634 (1000Genomes)
A=0.341499/26876 (PAGE_STUDY)
A=0.378119/788 (HGDP_Stanford)
A=0.391371/103592 (TOPMED)
A=0.397526/55660 (GnomAD)
A=0.415833/50463 (ExAC)
A=0.416667/90 (Qatari)
A=0.417763/127 (FINRISK)
A=0.418346/105193 (GnomAD_exomes)
A=0.431818/19 (Siberian)
A=0.462547/247 (MGP)
A=0.466667/28 (PRJEB36033)
A=0.467936/467 (GoNL)
A=0.481578/1856 (ALSPAC)
G=0.483333/290 (NorthernSweden)
A=0.489955/2195 (Estonian)
A=0.493258/1829 (TWINSUK)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000008.11:g.132897729A>G, NC_000008.10:g.133909974A>G, NG_015832.2:g.35773A>G, NG_015832.1:g.35770A>G, NM_003235.5:c.3082A>G, NM_003235.4:c.3082A>G, XM_005251038.5:c.3082A>G, XM_005251038.4:c.3082A>G, XM_005251038.3:c.3082A>G, XM_005251038.2:c.3082A>G, XM_005251038.1:c.3082A>G, XM_005251040.5:c.3082A>G, XM_005251040.4:c.3082A>G, XM_005251040.3:c.3082A>G, XM_005251040.2:c.3082A>G, XM_005251040.1:c.3082A>G, XM_005251042.5:c.3082A>G, XM_005251042.4:c.3082A>G, XM_005251042.3:c.3082A>G, XM_005251042.2:c.3082A>G, XM_005251042.1:c.3082A>G, XM_006716622.4:c.3082A>G, XM_006716622.3:c.3082A>G, XM_006716622.2:c.3082A>G, XM_006716622.1:c.3082A>G, XM_017013793.2:c.3082A>G, XM_017013793.1:c.3082A>G, XM_017013794.2:c.3082A>G, XM_017013794.1:c.3082A>G, XM_017013795.2:c.3082A>G, XM_017013795.1:c.3082A>G, XM_017013796.2:c.3082A>G, XM_017013796.1:c.3082A>G, XM_017013798.2:c.3082A>G, XM_017013798.1:c.3082A>G, XM_017013800.2:c.3082A>G, XM_017013800.1:c.3082A>G, XM_017013799.2:c.3082A>G, XM_017013799.1:c.3082A>G, XM_047422166.1:c.2821A>G, NP_003226.4:p.Met1028Val, XP_005251095.1:p.Met1028Val, XP_005251097.1:p.Met1028Val, XP_005251099.1:p.Met1028Val, XP_006716685.1:p.Met1028Val, XP_016869282.1:p.Met1028Val, XP_016869283.1:p.Met1028Val, XP_016869284.1:p.Met1028Val, XP_016869285.1:p.Met1028Val, XP_016869287.1:p.Met1028Val, XP_016869289.1:p.Met1028Val, XP_016869288.1:p.Met1028Val, XP_047278122.1:p.Met941Val

PubMed LitVar

Select item 86646818.

rs866468 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:132908076 (GRCh38)
8:133920321 (GRCh37)
Canonical SPDI:: NC_000008.11:132908075:A:G
Gene:: TG (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.460508/8699 (ALFA)
G=0.026217/14 (MGP)
A=0.29558/107 (SGDP_PRJ)
G=0.303681/99 (HapMap)
A=0.305/183 (NorthernSweden)
G=0.313084/67 (Vietnamese)
A=0.346154/18 (Siberian)
A=0.349699/349 (GoNL)
A=0.363518/1401 (ALSPAC)
A=0.365179/1636 (Estonian)
G=0.367235/1076 (KOREAN)
G=0.36845/675 (Korea1K)
G=0.376991/6318 (TOMMO)
A=0.378641/1404 (TWINSUK)
G=0.392879/1968 (1000Genomes)
G=0.459417/121603 (TOPMED)
G=0.467593/101 (Qatari)
G=0.475986/66639 (GnomAD)
HGVS:: NC_000008.11:g.132908076A>G, NC_000008.10:g.133920321A>G, NG_015832.2:g.46120A>G, NG_015832.1:g.46117A>G

Select item 94007819.

rs940078 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 8:133018172 (GRCh38)
8:134030417 (GRCh37)
Canonical SPDI:: NC_000008.11:133018171:A:C,NC_000008.11:133018171:A:T
Gene:: TG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.452097/8126 (ALFA)
T=0.188055/551 (KOREAN)
T=0.201217/3372 (TOMMO)
T=0.204694/375 (Korea1K)
T=0.240741/52 (Vietnamese)
A=0.309701/83 (SGDP_PRJ)
T=0.325/13 (GENOME_DK)
A=0.342105/13 (Siberian)
T=0.394597/1976 (1000Genomes)
T=0.42/252 (NorthernSweden)
T=0.425446/1906 (Estonian)
T=0.452257/1743 (ALSPAC)
T=0.452535/1678 (TWINSUK)
T=0.456337/857 (HapMap)
T=0.457916/457 (GoNL)
T=0.469689/124322 (TOPMED)
T=0.476852/103 (Qatari)
T=0.477104/66828 (GnomAD)
HGVS:: NC_000008.11:g.133018172A>C, NC_000008.11:g.133018172A>T, NC_000008.10:g.134030417A>C, NC_000008.10:g.134030417A>T, NG_015832.2:g.156216A>C, NG_015832.2:g.156216A>T, NG_015832.1:g.156213A>C, NG_015832.1:g.156213A>T

Select item 113307620.

rs1133076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:133113438 (GRCh38)
8:134125682 (GRCh37)
Canonical SPDI:: NC_000008.11:133113437:G:A
Gene:: TG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.484308/183947 (ALFA)
G=0.297927/115 (SGDP_PRJ)
A=0.323549/948 (KOREAN)
A=0.325879/204 (Chileans)
A=0.329148/603 (Korea1K)
A=0.329606/5524 (TOMMO)
G=0.347826/16 (Siberian)
G=0.407505/771 (HapMap)
G=0.417763/127 (FINRISK)
A=0.421311/257 (Vietnamese)
G=0.425803/5538 (GoESP)
G=0.434284/60606 (GnomAD)
G=0.438763/34528 (PAGE_STUDY)
G=0.443563/503 (Daghestan)
A=0.448276/26 (PRJEB36033)
A=0.449438/240 (MGP)
G=0.449998/119110 (TOPMED)
G=0.45331/2270 (1000Genomes)
A=0.460922/460 (GoNL)
A=0.461612/962 (HGDP_Stanford)
G=0.462963/100 (Qatari)
G=0.46798/2090 (Estonian)
G=0.4699/281 (NorthernSweden)
A=0.47068/1814 (ALSPAC)
A=0.475/19 (GENOME_DK)
A=0.484547/121755 (GnomAD_exomes)
A=0.490022/1817 (TWINSUK)
A=0.49759/60279 (ExAC)
HGVS:: NC_000008.11:g.133113438G>A, NC_000008.10:g.134125682G>A, NG_015832.2:g.251482G>A, NG_015832.1:g.251478G>A, NM_003235.5:c.7589G>A, NM_003235.4:c.7589G>A, XM_005251038.5:c.7397G>A, XM_005251038.4:c.7397G>A, XM_005251038.3:c.7397G>A, XM_005251038.2:c.7397G>A, XM_005251038.1:c.7397G>A, XM_006716622.4:c.7526G>A, XM_006716622.3:c.7526G>A, XM_006716622.2:c.7526G>A, XM_006716622.1:c.7526G>A, XM_017013793.2:c.7523G>A, XM_017013793.1:c.7523G>A, XM_017013794.2:c.7589G>A, XM_017013794.1:c.7589G>A, XM_017013795.2:c.7418G>A, XM_017013795.1:c.7418G>A, XM_017013796.2:c.7370G>A, XM_017013796.1:c.7370G>A, XM_047422166.1:c.7328G>A, NP_003226.4:p.Arg2530Gln, XP_005251095.1:p.Arg2466Gln, XP_006716685.1:p.Arg2509Gln, XP_016869282.1:p.Arg2508Gln, XP_016869283.1:p.Arg2530Gln, XP_016869284.1:p.Arg2473Gln, XP_016869285.1:p.Arg2457Gln, XP_047278122.1:p.Arg2443Gln

PubMed LitVar

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