SLC22A18 - SNP

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Select item 3670351.

rs367035 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 11:2902596 (GRCh38)
11:2923826 (GRCh37)
Canonical SPDI:: NC_000011.10:2902595:A:C,NC_000011.10:2902595:A:G,NC_000011.10:2902595:A:T
Gene:: SLC22A18 (Varview), SLC22A18AS (Varview)
Functional Consequence:: initiator_codon_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.432327/103633 (ALFA)
T=0./0 (KOREAN)
A=0.227869/417 (Korea1K)
A=0.254453/200 (PRJEB37584)
A=0.26087/12 (Siberian)
A=0.285354/113 (SGDP_PRJ)
A=0.318941/5344 (TOMMO)
G=0.333482/1494 (Estonian)
G=0.374157/52373 (GnomAD)
G=0.375/15 (GENOME_DK)
G=0.386667/232 (NorthernSweden)
G=0.396158/104859 (TOPMED)
A=0.40625/26 (PRJEB36033)
G=0.410125/32267 (PAGE_STUDY)
G=0.411205/778 (HapMap)
G=0.420343/1620 (ALSPAC)
G=0.427184/1584 (TWINSUK)
G=0.442407/90727 (GENOGRAPHIC)
G=0.445503/2231 (1000Genomes)
G=0.472222/102 (Qatari)
A=0.488964/1019 (HGDP_Stanford)
HGVS:: NC_000011.10:g.2902596A>C, NC_000011.10:g.2902596A>G, NC_000011.10:g.2902596A>T, NC_000011.9:g.2923826A>C, NC_000011.9:g.2923826A>G, NC_000011.9:g.2923826A>T, NG_011512.1:g.7876A>C, NG_011512.1:g.7876A>G, NG_011512.1:g.7876A>T, NM_001315501.2:c.1A>C, NM_001315501.2:c.1A>G, NM_001315501.2:c.1A>T, NM_001315501.1:c.1A>C, NM_001315501.1:c.1A>G, NM_001315501.1:c.1A>T, NT_187585.1:g.134811G>A, NT_187585.1:g.134811G>C, NT_187585.1:g.134811G>T, NM_007105.4:c.-102T>G, NM_007105.4:c.-102T>C, NM_007105.4:c.-102T>A, XM_011520141.3:c.1A>C, XM_011520141.3:c.1A>G, XM_011520141.3:c.1A>T, XM_011520141.2:c.1A>C, XM_011520141.2:c.1A>G, XM_011520141.2:c.1A>T, XM_011520142.3:c.1A>C, XM_011520142.3:c.1A>G, XM_011520142.3:c.1A>T, XM_011520142.2:c.1A>C, XM_011520142.2:c.1A>G, XM_011520142.2:c.1A>T, NM_007105.3:c.-102T>G, NM_007105.3:c.-102T>C, NM_007105.3:c.-102T>A, NM_007105.2:c.-102T>G, NM_007105.2:c.-102T>C, NM_007105.2:c.-102T>A, NM_001302862.2:c.-16T>G, NM_001302862.2:c.-16T>C, NM_001302862.2:c.-16T>A, NR_169304.1:n.231T>G, NR_169304.1:n.231T>C, NR_169304.1:n.231T>A, NM_001302862.1:c.-16T>G, NM_001302862.1:c.-16T>C, NM_001302862.1:c.-16T>A, NR_169305.1:n.231T>G, NR_169305.1:n.231T>C, NR_169305.1:n.231T>A, NP_001302430.1:p.Met1Leu, NP_001302430.1:p.Met1Val, NP_001302430.1:p.Met1Leu, XP_011518443.2:p.Met1Leu, XP_011518443.2:p.Met1Val, XP_011518443.2:p.Met1Leu, XP_011518444.2:p.Met1Leu, XP_011518444.2:p.Met1Val, XP_011518444.2:p.Met1Leu

PubMed

Select item 617432482.

rs61743248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:2925176 (GRCh38)
11:2946406 (GRCh37)
Canonical SPDI:: NC_000011.10:2925175:G:A,NC_000011.10:2925175:G:C
Gene:: SLC22A18 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002466/364 (ALFA)
A=0.004413/530 (ExAC)
A=0.00463/1 (Qatari)
A=0.014492/2032 (GnomAD)
A=0.014767/192 (GoESP)
A=0.015403/4077 (TOPMED)
A=0.016864/84 (1000Genomes)
A=0.023229/1828 (PAGE_STUDY)
G=0.5/4 (SGDP_PRJ)
HGVS:: NC_000011.10:g.2925176G>A, NC_000011.10:g.2925176G>C, NC_000011.9:g.2946406G>A, NC_000011.9:g.2946406G>C, NG_011512.1:g.30456G>A, NG_011512.1:g.30456G>C, NM_002555.6:c.1254G>A, NM_002555.6:c.1254G>C, NM_002555.5:c.1254G>A, NM_002555.5:c.1254G>C, NM_183233.3:c.1254G>A, NM_183233.3:c.1254G>C, NM_183233.2:c.1254G>A, NM_183233.2:c.1254G>C, NM_001315501.2:c.1509G>A, NM_001315501.2:c.1509G>C, NM_001315501.1:c.1509G>A, NM_001315501.1:c.1509G>C, NM_001315502.2:c.960G>A, NM_001315502.2:c.960G>C, NM_001315502.1:c.960G>A, NM_001315502.1:c.960G>C, NT_187585.1:g.157292G>A, NT_187585.1:g.157292G>C, XM_047427033.1:c.1254G>A, XM_047427033.1:c.1254G>C, XM_047427035.1:c.825G>A, XM_047427035.1:c.825G>C, XM_047427034.1:c.933G>A, XM_047427034.1:c.933G>C, NP_002546.3:p.Gln418His, NP_899056.2:p.Gln418His, NP_001302430.1:p.Gln503His, NP_001302431.1:p.Gln320His, XP_047282989.1:p.Gln418His, XP_047282991.1:p.Gln275His, XP_047282990.1:p.Gln311His

Select item 677694513.

rs67769451 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G [Show Flanks]
Chromosome:: 11:2909369 (GRCh38)
11:2930599 (GRCh37)
Canonical SPDI:: NC_000011.10:2909364:GGGGGG:GGGG,NC_000011.10:2909364:GGGGGG:GGGGG
Gene:: SLC22A18 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0.000465/11 (ALFA)
G=0./0 (ALSPAC)
G=0./0 (ExAC)
G=0./0 (GENOME_DK)
G=0./0 (NorthernSweden)
G=0.00027/1 (TWINSUK)
G=0.000549/77 (GnomAD)
G=0.000677/79 (GnomAD_exomes)
G=0.000937/5 (1000Genomes)
G=0.001664/28 (TOMMO)
G=0.002718/21 (GoESP)
-=0.25/2 (Korea1K)
HGVS:: NC_000011.10:g.2909369_2909370del, NC_000011.10:g.2909370del, NC_000011.9:g.2930599_2930600del, NC_000011.9:g.2930600del, NG_011512.1:g.14649_14650del, NG_011512.1:g.14650del, NT_187585.1:g.141589dup, NT_187585.1:g.141589del

Select item 788381174.

rs78838117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2909210 (GRCh38)
11:2930440 (GRCh37)
Canonical SPDI:: NC_000011.10:2909209:G:A
Gene:: SLC22A18 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001449/54 (ALFA)
A=0.000446/2 (Estonian)
A=0.002631/369 (GnomAD)
A=0.005304/1404 (TOPMED)
A=0.005882/7 (Korea1K)
A=0.014397/1958 (GnomAD_exomes)
A=0.015459/77 (1000Genomes)
A=0.029108/327 (ExAC)
A=0.037487/628 (TOMMO)
A=0.041724/122 (KOREAN)
A=0.061321/13 (Vietnamese)
G=0.5/15 (SGDP_PRJ)
HGVS:: NC_000011.10:g.2909210G>A, NC_000011.9:g.2930440G>A, NG_011512.1:g.14490G>A, NM_002555.6:c.257G>A, NM_002555.5:c.257G>A, NM_183233.3:c.257G>A, NM_183233.2:c.257G>A, NM_001315501.2:c.512G>A, NM_001315501.1:c.512G>A, NT_187585.1:g.141430G>A, XM_011520141.3:c.512G>A, XM_011520141.2:c.512G>A, XM_011520141.1:c.257G>A, XM_011520142.3:c.512G>A, XM_011520142.2:c.512G>A, XM_011520142.1:c.257G>A, XM_047427033.1:c.257G>A, NP_002546.3:p.Arg86His, NP_899056.2:p.Arg86His, NP_001302430.1:p.Arg171His, XP_011518443.2:p.Arg171His, XP_011518444.2:p.Arg171His, XP_047282989.1:p.Arg86His

Select item 1219090715.

rs121909071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2918030 (GRCh38)
11:2939260 (GRCh37)
Canonical SPDI:: NC_000011.10:2918029:C:T
Gene:: SLC22A18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2918030C>T, NC_000011.9:g.2939260C>T, NG_011512.1:g.23310C>T, NM_002555.6:c.698C>T, NM_002555.5:c.698C>T, NM_183233.3:c.698C>T, NM_183233.2:c.698C>T, NM_001315501.2:c.953C>T, NM_001315501.1:c.953C>T, NM_001315502.2:c.404C>T, NM_001315502.1:c.404C>T, NT_187585.1:g.150248C>T, XM_011520141.3:c.953C>T, XM_011520141.2:c.953C>T, XM_011520141.1:c.698C>T, XM_011520142.3:c.953C>T, XM_011520142.2:c.953C>T, XM_011520142.1:c.698C>T, XM_047427034.1:c.377C>T, XM_047427033.1:c.698C>T, XM_047427035.1:c.269C>T, NP_002546.3:p.Ser233Phe, NP_899056.2:p.Ser233Phe, NP_001302430.1:p.Ser318Phe, NP_001302431.1:p.Ser135Phe, XP_011518443.2:p.Ser318Phe, XP_011518444.2:p.Ser318Phe, XP_047282990.1:p.Ser126Phe, XP_047282989.1:p.Ser233Phe, XP_047282991.1:p.Ser90Phe

LitVar

Select item 1396409366.

rs139640936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2925116 (GRCh38)
11:2946346 (GRCh37)
Canonical SPDI:: NC_000011.10:2925115:C:T
Gene:: SLC22A18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001906/99 (ALFA)
T=0.000223/1 (Estonian)
T=0.000975/245 (GnomAD_exomes)
T=0.001249/151 (ExAC)
T=0.003748/19 (1000Genomes)
T=0.003999/561 (GnomAD)
T=0.004088/1082 (TOPMED)
T=0.00463/1 (Qatari)
T=0.005076/66 (GoESP)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.2925116C>T, NC_000011.9:g.2946346C>T, NG_011512.1:g.30396C>T, NM_002555.6:c.1194C>T, NM_002555.5:c.1194C>T, NM_183233.3:c.1194C>T, NM_183233.2:c.1194C>T, NM_001315501.2:c.1449C>T, NM_001315501.1:c.1449C>T, NM_001315502.2:c.900C>T, NM_001315502.1:c.900C>T, NT_187585.1:g.157232C>T, XM_047427033.1:c.1194C>T, XM_047427035.1:c.765C>T, XM_047427034.1:c.873C>T

Select item 1431922737.

rs143192273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:2922541 (GRCh38)
11:2943771 (GRCh37)
Canonical SPDI:: NC_000011.10:2922540:T:C
Gene:: SLC22A18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001857/95 (ALFA)
C=0.001703/424 (GnomAD_exomes)
C=0.002147/246 (ExAC)
C=0.00463/1 (Qatari)
C=0.005465/27 (1000Genomes)
C=0.006604/1748 (TOPMED)
C=0.006636/923 (GnomAD)
C=0.008231/107 (GoESP)
T=0.5/2 (SGDP_PRJ)
HGVS:: NC_000011.10:g.2922541T>C, NC_000011.9:g.2943771T>C, NG_011512.1:g.27821T>C, NM_002555.6:c.1072T>C, NM_002555.5:c.1072T>C, NM_183233.3:c.1072T>C, NM_183233.2:c.1072T>C, NM_001315501.2:c.1327T>C, NM_001315501.1:c.1327T>C, NM_001315502.2:c.778T>C, NM_001315502.1:c.778T>C, NT_187585.1:g.154717T>C, XM_047427033.1:c.1072T>C, XM_047427035.1:c.643T>C, XM_047427034.1:c.751T>C, NP_002546.3:p.Ser358Pro, NP_899056.2:p.Ser358Pro, NP_001302430.1:p.Ser443Pro, NP_001302431.1:p.Ser260Pro, XP_047282989.1:p.Ser358Pro, XP_047282991.1:p.Ser215Pro, XP_047282990.1:p.Ser251Pro

Select item 1440971378.

rs144097137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:2925117 (GRCh38)
11:2946347 (GRCh37)
Canonical SPDI:: NC_000011.10:2925116:G:A,NC_000011.10:2925116:G:T
Gene:: SLC22A18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00136/44 (ALFA)
A=0.001/1 (GoNL)
T=0.00375/19 (1000Genomes)
T=0.00463/1 (Qatari)
T=0.00523/68 (GoESP)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.2925117G>A, NC_000011.10:g.2925117G>T, NC_000011.9:g.2946347G>A, NC_000011.9:g.2946347G>T, NG_011512.1:g.30397G>A, NG_011512.1:g.30397G>T, NM_002555.6:c.1195G>A, NM_002555.6:c.1195G>T, NM_002555.5:c.1195G>A, NM_002555.5:c.1195G>T, NM_183233.3:c.1195G>A, NM_183233.3:c.1195G>T, NM_183233.2:c.1195G>A, NM_183233.2:c.1195G>T, NM_001315501.2:c.1450G>A, NM_001315501.2:c.1450G>T, NM_001315501.1:c.1450G>A, NM_001315501.1:c.1450G>T, NM_001315502.2:c.901G>A, NM_001315502.2:c.901G>T, NM_001315502.1:c.901G>A, NM_001315502.1:c.901G>T, NT_187585.1:g.157233G>A, NT_187585.1:g.157233G>T, XM_047427033.1:c.1195G>A, XM_047427033.1:c.1195G>T, XM_047427035.1:c.766G>A, XM_047427035.1:c.766G>T, XM_047427034.1:c.874G>A, XM_047427034.1:c.874G>T, NP_002546.3:p.Val399Met, NP_002546.3:p.Val399Leu, NP_899056.2:p.Val399Met, NP_899056.2:p.Val399Leu, NP_001302430.1:p.Val484Met, NP_001302430.1:p.Val484Leu, NP_001302431.1:p.Val301Met, NP_001302431.1:p.Val301Leu, XP_047282989.1:p.Val399Met, XP_047282989.1:p.Val399Leu, XP_047282991.1:p.Val256Met, XP_047282991.1:p.Val256Leu, XP_047282990.1:p.Val292Met, XP_047282990.1:p.Val292Leu

Select item 1464133829.

rs146413382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:2903410 (GRCh38)
11:2924640 (GRCh37)
Canonical SPDI:: NC_000011.10:2903409:G:A,NC_000011.10:2903409:G:T
Gene:: SLC22A18 (Varview), SLC22A18AS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.009573/1322 (ALFA)
A=0.005465/27 (1000Genomes)
A=0.00558/25 (Estonian)
A=0.005887/463 (PAGE_STUDY)
A=0.00736/1032 (GnomAD)
A=0.007491/4 (MGP)
A=0.007956/2106 (TOPMED)
A=0.00846/110 (GoESP)
A=0.01/6 (NorthernSweden)
A=0.012195/47 (ALSPAC)
A=0.014563/54 (TWINSUK)
A=0.023148/5 (Qatari)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000011.10:g.2903410G>A, NC_000011.10:g.2903410G>T, NC_000011.9:g.2924640G>A, NC_000011.9:g.2924640G>T, NG_011512.1:g.8690G>A, NG_011512.1:g.8690G>T, NM_002555.6:c.65G>A, NM_002555.6:c.65G>T, NM_002555.5:c.65G>A, NM_002555.5:c.65G>T, NM_183233.3:c.65G>A, NM_183233.3:c.65G>T, NM_183233.2:c.65G>A, NM_183233.2:c.65G>T, NM_001315501.2:c.320G>A, NM_001315501.2:c.320G>T, NM_001315501.1:c.320G>A, NM_001315501.1:c.320G>T, NM_001315502.2:c.65G>A, NM_001315502.2:c.65G>T, NM_001315502.1:c.65G>A, NM_001315502.1:c.65G>T, NT_187585.1:g.135625G>A, NT_187585.1:g.135625G>T, XM_011520141.3:c.320G>A, XM_011520141.3:c.320G>T, XM_011520141.2:c.320G>A, XM_011520141.2:c.320G>T, XM_011520141.1:c.65G>A, XM_011520141.1:c.65G>T, XM_011520142.3:c.320G>A, XM_011520142.3:c.320G>T, XM_011520142.2:c.320G>A, XM_011520142.2:c.320G>T, XM_011520142.1:c.65G>A, XM_011520142.1:c.65G>T, XM_047427033.1:c.65G>A, XM_047427033.1:c.65G>T, NP_002546.3:p.Arg22Gln, NP_002546.3:p.Arg22Leu, NP_899056.2:p.Arg22Gln, NP_899056.2:p.Arg22Leu, NP_001302430.1:p.Arg107Gln, NP_001302430.1:p.Arg107Leu, NP_001302431.1:p.Arg22Gln, NP_001302431.1:p.Arg22Leu, XP_011518443.2:p.Arg107Gln, XP_011518443.2:p.Arg107Leu, XP_011518444.2:p.Arg107Gln, XP_011518444.2:p.Arg107Leu, XP_047282989.1:p.Arg22Gln, XP_047282989.1:p.Arg22Leu

Select item 14883848910.

rs148838489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2922451 (GRCh38)
11:2943681 (GRCh37)
Canonical SPDI:: NC_000011.10:2922450:G:A
Gene:: SLC22A18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000239/30 (ALFA)
A=0.000326/80 (GnomAD_exomes)
A=0.000506/53 (ExAC)
A=0.001249/6 (1000Genomes)
A=0.001342/188 (GnomAD)
A=0.00147/389 (TOPMED)
A=0.001539/20 (GoESP)
A=0.001804/141 (PAGE_STUDY)
HGVS:: NC_000011.10:g.2922451G>A, NC_000011.9:g.2943681G>A, NG_011512.1:g.27731G>A, NM_002555.6:c.982G>A, NM_002555.5:c.982G>A, NM_183233.3:c.982G>A, NM_183233.2:c.982G>A, NM_001315501.2:c.1237G>A, NM_001315501.1:c.1237G>A, NM_001315502.2:c.688G>A, NM_001315502.1:c.688G>A, NT_187585.1:g.154627G>A, XM_047427033.1:c.982G>A, XM_047427035.1:c.553G>A, XM_047427034.1:c.661G>A, NP_002546.3:p.Val328Ile, NP_899056.2:p.Val328Ile, NP_001302430.1:p.Val413Ile, NP_001302431.1:p.Val230Ile, XP_047282989.1:p.Val328Ile, XP_047282991.1:p.Val185Ile, XP_047282990.1:p.Val221Ile

Select item 14936914011.

rs149369140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2925105 (GRCh38)
11:2946335 (GRCh37)
Canonical SPDI:: NC_000011.10:2925104:G:A
Gene:: SLC22A18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000523/104 (ALFA)
A=0./0 (TWINSUK)
A=0.000089/7 (PAGE_STUDY)
A=0.000259/1 (ALSPAC)
A=0.000314/44 (GnomAD)
A=0.000359/95 (TOPMED)
A=0.000447/54 (ExAC)
A=0.000486/122 (GnomAD_exomes)
A=0.000615/8 (GoESP)
A=0.001002/1 (GoNL)
HGVS:: NC_000011.10:g.2925105G>A, NC_000011.9:g.2946335G>A, NG_011512.1:g.30385G>A, NM_002555.6:c.1183G>A, NM_002555.5:c.1183G>A, NM_183233.3:c.1183G>A, NM_183233.2:c.1183G>A, NM_001315501.2:c.1438G>A, NM_001315501.1:c.1438G>A, NM_001315502.2:c.889G>A, NM_001315502.1:c.889G>A, NT_187585.1:g.157221G>A, XM_047427033.1:c.1183G>A, XM_047427035.1:c.754G>A, XM_047427034.1:c.862G>A, NP_002546.3:p.Val395Ile, NP_899056.2:p.Val395Ile, NP_001302430.1:p.Val480Ile, NP_001302431.1:p.Val297Ile, XP_047282989.1:p.Val395Ile, XP_047282991.1:p.Val252Ile, XP_047282990.1:p.Val288Ile

Select item 6071844912.

rs60718449 has merged into rs367035 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 11:2902596 (GRCh38)
11:2923826 (GRCh37)
Canonical SPDI:: NC_000011.10:2902595:A:C,NC_000011.10:2902595:A:G,NC_000011.10:2902595:A:T
Gene:: SLC22A18 (Varview), SLC22A18AS (Varview)
Functional Consequence:: initiator_codon_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.432327/103633 (ALFA)
T=0./0 (KOREAN)
A=0.227869/417 (Korea1K)
A=0.254453/200 (PRJEB37584)
A=0.26087/12 (Siberian)
A=0.285354/113 (SGDP_PRJ)
A=0.318941/5344 (TOMMO)
G=0.333482/1494 (Estonian)
G=0.374157/52373 (GnomAD)
G=0.375/15 (GENOME_DK)
G=0.386667/232 (NorthernSweden)
G=0.396158/104859 (TOPMED)
A=0.40625/26 (PRJEB36033)
G=0.410125/32267 (PAGE_STUDY)
G=0.411205/778 (HapMap)
G=0.420343/1620 (ALSPAC)
G=0.427184/1584 (TWINSUK)
G=0.442407/90727 (GENOGRAPHIC)
G=0.445503/2231 (1000Genomes)
G=0.472222/102 (Qatari)
A=0.488964/1019 (HGDP_Stanford)
HGVS:: NC_000011.10:g.2902596A>C, NC_000011.10:g.2902596A>G, NC_000011.10:g.2902596A>T, NC_000011.9:g.2923826A>C, NC_000011.9:g.2923826A>G, NC_000011.9:g.2923826A>T, NG_011512.1:g.7876A>C, NG_011512.1:g.7876A>G, NG_011512.1:g.7876A>T, NM_001315501.2:c.1A>C, NM_001315501.2:c.1A>G, NM_001315501.2:c.1A>T, NM_001315501.1:c.1A>C, NM_001315501.1:c.1A>G, NM_001315501.1:c.1A>T, NT_187585.1:g.134811G>A, NT_187585.1:g.134811G>C, NT_187585.1:g.134811G>T, NM_007105.4:c.-102T>G, NM_007105.4:c.-102T>C, NM_007105.4:c.-102T>A, XM_011520141.3:c.1A>C, XM_011520141.3:c.1A>G, XM_011520141.3:c.1A>T, XM_011520141.2:c.1A>C, XM_011520141.2:c.1A>G, XM_011520141.2:c.1A>T, XM_011520142.3:c.1A>C, XM_011520142.3:c.1A>G, XM_011520142.3:c.1A>T, XM_011520142.2:c.1A>C, XM_011520142.2:c.1A>G, XM_011520142.2:c.1A>T, NM_007105.3:c.-102T>G, NM_007105.3:c.-102T>C, NM_007105.3:c.-102T>A, NM_007105.2:c.-102T>G, NM_007105.2:c.-102T>C, NM_007105.2:c.-102T>A, NM_001302862.2:c.-16T>G, NM_001302862.2:c.-16T>C, NM_001302862.2:c.-16T>A, NR_169304.1:n.231T>G, NR_169304.1:n.231T>C, NR_169304.1:n.231T>A, NM_001302862.1:c.-16T>G, NM_001302862.1:c.-16T>C, NM_001302862.1:c.-16T>A, NR_169305.1:n.231T>G, NR_169305.1:n.231T>C, NR_169305.1:n.231T>A, NP_001302430.1:p.Met1Leu, NP_001302430.1:p.Met1Val, NP_001302430.1:p.Met1Leu, XP_011518443.2:p.Met1Leu, XP_011518443.2:p.Met1Val, XP_011518443.2:p.Met1Leu, XP_011518444.2:p.Met1Leu, XP_011518444.2:p.Met1Val, XP_011518444.2:p.Met1Leu

Select item 230230313.

rs2302303 has merged into rs367035 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 11:2902596 (GRCh38)
11:2923826 (GRCh37)
Canonical SPDI:: NC_000011.10:2902595:A:C,NC_000011.10:2902595:A:G,NC_000011.10:2902595:A:T
Gene:: SLC22A18 (Varview), SLC22A18AS (Varview)
Functional Consequence:: initiator_codon_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.432327/103633 (ALFA)
T=0./0 (KOREAN)
A=0.227869/417 (Korea1K)
A=0.254453/200 (PRJEB37584)
A=0.26087/12 (Siberian)
A=0.285354/113 (SGDP_PRJ)
A=0.318941/5344 (TOMMO)
G=0.333482/1494 (Estonian)
G=0.374157/52373 (GnomAD)
G=0.375/15 (GENOME_DK)
G=0.386667/232 (NorthernSweden)
G=0.396158/104859 (TOPMED)
A=0.40625/26 (PRJEB36033)
G=0.410125/32267 (PAGE_STUDY)
G=0.411205/778 (HapMap)
G=0.420343/1620 (ALSPAC)
G=0.427184/1584 (TWINSUK)
G=0.442407/90727 (GENOGRAPHIC)
G=0.445503/2231 (1000Genomes)
G=0.472222/102 (Qatari)
A=0.488964/1019 (HGDP_Stanford)
HGVS:: NC_000011.10:g.2902596A>C, NC_000011.10:g.2902596A>G, NC_000011.10:g.2902596A>T, NC_000011.9:g.2923826A>C, NC_000011.9:g.2923826A>G, NC_000011.9:g.2923826A>T, NG_011512.1:g.7876A>C, NG_011512.1:g.7876A>G, NG_011512.1:g.7876A>T, NM_001315501.2:c.1A>C, NM_001315501.2:c.1A>G, NM_001315501.2:c.1A>T, NM_001315501.1:c.1A>C, NM_001315501.1:c.1A>G, NM_001315501.1:c.1A>T, NT_187585.1:g.134811G>A, NT_187585.1:g.134811G>C, NT_187585.1:g.134811G>T, NM_007105.4:c.-102T>G, NM_007105.4:c.-102T>C, NM_007105.4:c.-102T>A, XM_011520141.3:c.1A>C, XM_011520141.3:c.1A>G, XM_011520141.3:c.1A>T, XM_011520141.2:c.1A>C, XM_011520141.2:c.1A>G, XM_011520141.2:c.1A>T, XM_011520142.3:c.1A>C, XM_011520142.3:c.1A>G, XM_011520142.3:c.1A>T, XM_011520142.2:c.1A>C, XM_011520142.2:c.1A>G, XM_011520142.2:c.1A>T, NM_007105.3:c.-102T>G, NM_007105.3:c.-102T>C, NM_007105.3:c.-102T>A, NM_007105.2:c.-102T>G, NM_007105.2:c.-102T>C, NM_007105.2:c.-102T>A, NM_001302862.2:c.-16T>G, NM_001302862.2:c.-16T>C, NM_001302862.2:c.-16T>A, NR_169304.1:n.231T>G, NR_169304.1:n.231T>C, NR_169304.1:n.231T>A, NM_001302862.1:c.-16T>G, NM_001302862.1:c.-16T>C, NM_001302862.1:c.-16T>A, NR_169305.1:n.231T>G, NR_169305.1:n.231T>C, NR_169305.1:n.231T>A, NP_001302430.1:p.Met1Leu, NP_001302430.1:p.Met1Val, NP_001302430.1:p.Met1Leu, XP_011518443.2:p.Met1Leu, XP_011518443.2:p.Met1Val, XP_011518443.2:p.Met1Leu, XP_011518444.2:p.Met1Leu, XP_011518444.2:p.Met1Val, XP_011518444.2:p.Met1Leu

Select item 39801520614.

rs398015206 has merged into rs67769451 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G [Show Flanks]
Chromosome:: 11:2909369 (GRCh38)
11:2930599 (GRCh37)
Canonical SPDI:: NC_000011.10:2909364:GGGGGG:GGGG,NC_000011.10:2909364:GGGGGG:GGGGG
Gene:: SLC22A18 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0.000465/11 (ALFA)
G=0./0 (ALSPAC)
G=0./0 (ExAC)
G=0./0 (GENOME_DK)
G=0./0 (NorthernSweden)
G=0.00027/1 (TWINSUK)
G=0.000549/77 (GnomAD)
G=0.000677/79 (GnomAD_exomes)
G=0.000937/5 (1000Genomes)
G=0.001664/28 (TOMMO)
G=0.002718/21 (GoESP)
-=0.25/2 (Korea1K)
HGVS:: NC_000011.10:g.2909369_2909370del, NC_000011.10:g.2909370del, NC_000011.9:g.2930599_2930600del, NC_000011.9:g.2930600del, NG_011512.1:g.14649_14650del, NG_011512.1:g.14650del, NT_187585.1:g.141589dup, NT_187585.1:g.141589del

Select item 36912363515.

rs369123635 has merged into rs67769451 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G [Show Flanks]
Chromosome:: 11:2909369 (GRCh38)
11:2930599 (GRCh37)
Canonical SPDI:: NC_000011.10:2909364:GGGGGG:GGGG,NC_000011.10:2909364:GGGGGG:GGGGG
Gene:: SLC22A18 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0.000465/11 (ALFA)
G=0./0 (ALSPAC)
G=0./0 (ExAC)
G=0./0 (GENOME_DK)
G=0./0 (NorthernSweden)
G=0.00027/1 (TWINSUK)
G=0.000549/77 (GnomAD)
G=0.000677/79 (GnomAD_exomes)
G=0.000937/5 (1000Genomes)
G=0.001664/28 (TOMMO)
G=0.002718/21 (GoESP)
-=0.25/2 (Korea1K)
HGVS:: NC_000011.10:g.2909369_2909370del, NC_000011.10:g.2909370del, NC_000011.9:g.2930599_2930600del, NC_000011.9:g.2930600del, NG_011512.1:g.14649_14650del, NG_011512.1:g.14650del, NT_187585.1:g.141589dup, NT_187585.1:g.141589del

Select item 7673724916.

rs76737249 has merged into rs67769451 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G [Show Flanks]
Chromosome:: 11:2909369 (GRCh38)
11:2930599 (GRCh37)
Canonical SPDI:: NC_000011.10:2909364:GGGGGG:GGGG,NC_000011.10:2909364:GGGGGG:GGGGG
Gene:: SLC22A18 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0.000465/11 (ALFA)
G=0./0 (ALSPAC)
G=0./0 (ExAC)
G=0./0 (GENOME_DK)
G=0./0 (NorthernSweden)
G=0.00027/1 (TWINSUK)
G=0.000549/77 (GnomAD)
G=0.000677/79 (GnomAD_exomes)
G=0.000937/5 (1000Genomes)
G=0.001664/28 (TOMMO)
G=0.002718/21 (GoESP)
-=0.25/2 (Korea1K)
HGVS:: NC_000011.10:g.2909369_2909370del, NC_000011.10:g.2909370del, NC_000011.9:g.2930599_2930600del, NC_000011.9:g.2930600del, NG_011512.1:g.14649_14650del, NG_011512.1:g.14650del, NT_187585.1:g.141589dup, NT_187585.1:g.141589del

Select item 6776945217.

rs67769452 has merged into rs67769451 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G [Show Flanks]
Chromosome:: 11:2909369 (GRCh38)
11:2930599 (GRCh37)
Canonical SPDI:: NC_000011.10:2909364:GGGGGG:GGGG,NC_000011.10:2909364:GGGGGG:GGGGG
Gene:: SLC22A18 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0.000465/11 (ALFA)
G=0./0 (ALSPAC)
G=0./0 (ExAC)
G=0./0 (GENOME_DK)
G=0./0 (NorthernSweden)
G=0.00027/1 (TWINSUK)
G=0.000549/77 (GnomAD)
G=0.000677/79 (GnomAD_exomes)
G=0.000937/5 (1000Genomes)
G=0.001664/28 (TOMMO)
G=0.002718/21 (GoESP)
-=0.25/2 (Korea1K)
HGVS:: NC_000011.10:g.2909369_2909370del, NC_000011.10:g.2909370del, NC_000011.9:g.2930599_2930600del, NC_000011.9:g.2930600del, NG_011512.1:g.14649_14650del, NG_011512.1:g.14650del, NT_187585.1:g.141589dup, NT_187585.1:g.141589del

Select item 12073818.

rs120738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:2904864 (GRCh38)
11:2926094 (GRCh37)
Canonical SPDI:: NC_000011.10:2904863:C:A,NC_000011.10:2904863:C:T
Gene:: SLC22A18 (Varview), SLC22A18AS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.461867/14256 (ALFA)
T=0./0 (Korea1K)
C=0.206485/605 (KOREAN)
C=0.229167/11 (Siberian)
C=0.231132/49 (Vietnamese)
C=0.263536/4416 (TOMMO)
C=0.268182/118 (SGDP_PRJ)
C=0.421296/91 (Qatari)
C=0.438164/2194 (1000Genomes)
C=0.448898/448 (GoNL)
C=0.453614/1682 (TWINSUK)
C=0.461858/1780 (ALSPAC)
C=0.472398/125039 (TOPMED)
C=0.483883/67733 (GnomAD)
C=0.483929/2168 (Estonian)
T=0.488333/293 (NorthernSweden)
C=0.5/20 (GENOME_DK)
HGVS:: NC_000011.10:g.2904864C>A, NC_000011.10:g.2904864C>T, NC_000011.9:g.2926094C>A, NC_000011.9:g.2926094C>T, NG_011512.1:g.10144C>A, NG_011512.1:g.10144C>T, NT_187585.1:g.137080T>C, NT_187585.1:g.137080T>A

Select item 12073919.

rs120739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:2905322 (GRCh38)
11:2926552 (GRCh37)
Canonical SPDI:: NC_000011.10:2905321:G:A,NC_000011.10:2905321:G:T
Gene:: SLC22A18 (Varview), SLC22A18AS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.463839/15559 (ALFA)
G=0.207509/608 (KOREAN)
G=0.211538/11 (Siberian)
G=0.253425/111 (SGDP_PRJ)
G=0.263361/4413 (TOMMO)
G=0.4/16 (GENOME_DK)
G=0.407407/88 (Qatari)
G=0.426854/426 (GoNL)
G=0.43069/1597 (TWINSUK)
G=0.437101/2189 (1000Genomes)
G=0.441619/1702 (ALSPAC)
G=0.453795/2033 (Estonian)
G=0.478734/126716 (TOPMED)
G=0.48/288 (NorthernSweden)
G=0.489218/68469 (GnomAD)
HGVS:: NC_000011.10:g.2905322G>A, NC_000011.10:g.2905322G>T, NC_000011.9:g.2926552G>A, NC_000011.9:g.2926552G>T, NG_011512.1:g.10602G>A, NG_011512.1:g.10602G>T, NT_187585.1:g.137538A>G, NT_187585.1:g.137538A>T

Select item 12074020.

rs120740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:2905397 (GRCh38)
11:2926627 (GRCh37)
Canonical SPDI:: NC_000011.10:2905396:G:T
Gene:: SLC22A18 (Varview), SLC22A18AS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.277554/5243 (ALFA)
G=0.148148/8 (Siberian)
G=0.199597/99 (SGDP_PRJ)
G=0.2/42 (Vietnamese)
G=0.207167/607 (KOREAN)
G=0.238393/1068 (Estonian)
G=0.25/10 (GENOME_DK)
G=0.251667/151 (NorthernSweden)
G=0.263182/4410 (TOMMO)
G=0.264529/264 (GoNL)
G=0.273148/59 (Qatari)
G=0.279969/1079 (ALSPAC)
G=0.281284/1043 (TWINSUK)
G=0.295128/1478 (1000Genomes)
G=0.301311/42166 (GnomAD)
G=0.305996/80994 (TOPMED)
HGVS:: NC_000011.10:g.2905397G>T, NC_000011.9:g.2926627G>T, NG_011512.1:g.10677G>T, NT_187585.1:g.137613T>G

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