MIR612 - SNP

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Select item 5508941.

rs550894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:65444469 (GRCh38)
11:65211940 (GRCh37)
Canonical SPDI:: NC_000011.10:65444468:C:A
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.111617/5496 (ALFA)
A=0.058929/264 (Estonian)
A=0.091667/55 (NorthernSweden)
A=0.099025/995 (GoESP)
A=0.1/4 (GENOME_DK)
A=0.104869/56 (MGP)
A=0.109756/423 (ALSPAC)
A=0.110302/409 (TWINSUK)
A=0.12024/120 (GoNL)
A=0.125823/17621 (GnomAD)
A=0.138889/30 (Qatari)
A=0.15149/40098 (TOPMED)
A=0.188147/3965 (ExAC)
A=0.193153/30359 (GnomAD_exomes)
A=0.211587/1060 (1000Genomes)
A=0.242984/710 (KOREAN)
A=0.257642/472 (Korea1K)
A=0.285714/174 (Vietnamese)
A=0.287004/4808 (TOMMO)
C=0.393939/78 (SGDP_PRJ)
C=0.423077/11 (Siberian)
HGVS:: NC_000011.10:g.65444469C>A, NC_000011.9:g.65211940C>A, NR_131012.1:n.21672C>A, NR_030343.1:n.12C>A

PubMed

Select item 10756922.

rs1075692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 11:65444976 (GRCh38)
11:65212447 (GRCh37)
Canonical SPDI:: NC_000011.10:65444975:A:C,NC_000011.10:65444975:A:G,NC_000011.10:65444975:A:T
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.197605/6964 (ALFA)
G=0.099057/21 (Vietnamese)
G=0.123908/227 (Korea1K)
G=0.138039/691 (1000Genomes)
G=0.143039/2397 (TOMMO)
G=0.143527/643 (Estonian)
G=0.145392/426 (KOREAN)
G=0.168466/23591 (GnomAD)
G=0.171333/45350 (TOPMED)
G=0.203704/44 (Qatari)
G=0.214429/214 (GoNL)
G=0.215/129 (NorthernSweden)
G=0.22384/830 (TWINSUK)
G=0.225/9 (GENOME_DK)
G=0.226518/873 (ALSPAC)
A=0.462687/62 (SGDP_PRJ)
A=0.5/6 (Siberian)
HGVS:: NC_000011.10:g.65444976A>C, NC_000011.10:g.65444976A>G, NC_000011.10:g.65444976A>T, NC_000011.9:g.65212447A>C, NC_000011.9:g.65212447A>G, NC_000011.9:g.65212447A>T, NR_131012.1:n.22179A>C, NR_131012.1:n.22179A>G, NR_131012.1:n.22179A>T

Select item 11449253.

rs1144925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:65443921 (GRCh38)
11:65211392 (GRCh37)
Canonical SPDI:: NC_000011.10:65443920:G:A,NC_000011.10:65443920:G:T
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.086949/4100 (ALFA)
A=0.1/4 (GENOME_DK)
A=0.105044/27804 (TOPMED)
A=0.105431/66 (Chileans)
A=0.111181/557 (1000Genomes)
A=0.114222/204 (HapMap)
A=0.125/560 (Estonian)
A=0.125674/466 (TWINSUK)
A=0.128438/495 (ALSPAC)
A=0.130261/130 (GoNL)
A=0.133333/80 (NorthernSweden)
A=0.143519/31 (Qatari)
A=0.216505/3628 (TOMMO)
A=0.237543/696 (KOREAN)
A=0.247573/51 (Vietnamese)
A=0.251092/460 (Korea1K)
G=0.333333/4 (Siberian)
G=0.432927/71 (SGDP_PRJ)
HGVS:: NC_000011.10:g.65443921G>A, NC_000011.10:g.65443921G>T, NC_000011.9:g.65211392G>A, NC_000011.9:g.65211392G>T, NR_131012.1:n.21124G>A, NR_131012.1:n.21124G>T

Select item 37413834.

rs3741383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:65444108 (GRCh38)
11:65211579 (GRCh37)
Canonical SPDI:: NC_000011.10:65444107:G:A,NC_000011.10:65444107:G:T
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.0075/38 (1000Genomes)
T=0.01534/5 (HapMap)
T=0.04573/134 (KOREAN)
T=0.25/3 (SGDP_PRJ)
HGVS:: NC_000011.10:g.65444108G>A, NC_000011.10:g.65444108G>T, NC_000011.9:g.65211579G>A, NC_000011.9:g.65211579G>T, NR_131012.1:n.21311G>A, NR_131012.1:n.21311G>T

Select item 37413845.

rs3741384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65444034 (GRCh38)
11:65211505 (GRCh37)
Canonical SPDI:: NC_000011.10:65444033:G:A
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.06262/2544 (ALFA)
A=0.025/1 (GENOME_DK)
A=0.029241/131 (Estonian)
A=0.044888/173 (ALSPAC)
A=0.046656/173 (TWINSUK)
A=0.046667/28 (NorthernSweden)
A=0.052104/52 (GoNL)
A=0.052427/7352 (GnomAD)
A=0.071057/18808 (TOPMED)
A=0.092593/20 (Qatari)
A=0.092755/465 (1000Genomes)
A=0.102273/135 (HapMap)
A=0.180698/528 (KOREAN)
A=0.186681/342 (Korea1K)
A=0.186916/40 (Vietnamese)
A=0.210575/3528 (TOMMO)
A=0.21885/137 (Chileans)
G=0.333333/4 (Siberian)
G=0.432203/51 (SGDP_PRJ)
HGVS:: NC_000011.10:g.65444034G>A, NC_000011.9:g.65211505G>A, NR_131012.1:n.21237G>A

PubMed

Select item 38250716.

rs3825071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:65444651 (GRCh38)
11:65212122 (GRCh37)
Canonical SPDI:: NC_000011.10:65444650:C:A,NC_000011.10:65444650:C:T
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.198189/3634 (ALFA)
T=0.001873/1 (MGP)
T=0.102804/22 (Vietnamese)
T=0.123908/227 (Korea1K)
T=0.135491/607 (Estonian)
T=0.142984/2394 (TOMMO)
T=0.143784/421 (KOREAN)
T=0.2/8 (GENOME_DK)
T=0.201667/121 (NorthernSweden)
T=0.207415/207 (GoNL)
T=0.21069/812 (ALSPAC)
T=0.213862/793 (TWINSUK)
T=0.222673/1115 (1000Genomes)
T=0.239885/33523 (GnomAD)
T=0.246341/65204 (TOPMED)
T=0.25/54 (Qatari)
C=0.427778/77 (SGDP_PRJ)
C=0.5/6 (Siberian)
HGVS:: NC_000011.10:g.65444651C>A, NC_000011.10:g.65444651C>T, NC_000011.9:g.65212122C>A, NC_000011.9:g.65212122C>T, NR_131012.1:n.21854C>A, NR_131012.1:n.21854C>T

PubMed

Select item 116051257.

rs11605125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:65443548 (GRCh38)
11:65211019 (GRCh37)
Canonical SPDI:: NC_000011.10:65443547:G:C
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.158232/2989 (ALFA)
C=0.090848/407 (Estonian)
C=0.108333/65 (NorthernSweden)
C=0.125/5 (GENOME_DK)
C=0.135444/522 (ALSPAC)
C=0.136192/505 (TWINSUK)
C=0.142425/29208 (GENOGRAPHIC)
C=0.147295/147 (GoNL)
C=0.180556/39 (Qatari)
C=0.186865/26182 (GnomAD)
C=0.189815/41 (Vietnamese)
C=0.194323/356 (Korea1K)
C=0.196275/51952 (TOPMED)
C=0.211499/618 (KOREAN)
C=0.224114/3756 (TOMMO)
C=0.236619/18620 (PAGE_STUDY)
C=0.237352/1189 (1000Genomes)
C=0.246237/458 (HapMap)
G=0.427835/83 (SGDP_PRJ)
G=0.5/12 (Siberian)
HGVS:: NC_000011.10:g.65443548G>C, NC_000011.9:g.65211019G>C, NR_131012.1:n.20751G>C

Select item 128039158.

rs12803915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65444508 (GRCh38)
11:65211979 (GRCh37)
Canonical SPDI:: NC_000011.10:65444507:G:A
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.194038/11619 (ALFA)
A=0.092105/56 (Vietnamese)
A=0.123908/227 (Korea1K)
A=0.135491/607 (Estonian)
A=0.141474/709 (1000Genomes)
A=0.142322/76 (MGP)
A=0.142898/2395 (TOMMO)
A=0.145392/426 (KOREAN)
A=0.156566/124 (PRJEB37584)
A=0.164253/29712 (GnomAD_exomes)
A=0.168258/23542 (GnomAD)
A=0.170199/45050 (TOPMED)
A=0.177634/1814 (GoESP)
A=0.2/8 (GENOME_DK)
A=0.203333/122 (NorthernSweden)
A=0.208333/45 (Qatari)
A=0.208417/208 (GoNL)
A=0.211469/815 (ALSPAC)
A=0.214401/795 (TWINSUK)
A=0.255452/7708 (ExAC)
G=0.452055/66 (SGDP_PRJ)
G=0.5/6 (Siberian)
HGVS:: NC_000011.10:g.65444508G>A, NC_000011.9:g.65211979G>A, NR_131012.1:n.21711G>A, NR_030343.1:n.51G>A

PubMed

Select item 587754329.

rs58775432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:65444719 (GRCh38)
11:65212190 (GRCh37)
Canonical SPDI:: NC_000011.10:65444718:G:A,NC_000011.10:65444718:G:T
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002391/34 (ALFA)
A=0./0 (ALSPAC)
A=0.00027/1 (TWINSUK)
A=0.011711/59 (1000Genomes)
A=0.013889/3 (Qatari)
A=0.01393/3687 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.65444719G>A, NC_000011.10:g.65444719G>T, NC_000011.9:g.65212190G>A, NC_000011.9:g.65212190G>T, NR_131012.1:n.21922G>A, NR_131012.1:n.21922G>T

Select item 6050570710.

rs60505707 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:65444663 (GRCh38)
11:65212134 (GRCh37)
Canonical SPDI:: NC_000011.10:65444662:GGG:GG
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.009324/131 (ALFA)
-=0./0 (ALSPAC)
-=0.00027/1 (TWINSUK)
-=0.011711/59 (1000Genomes)
-=0.013386/1875 (GnomAD)
-=0.013899/3679 (TOPMED)
HGVS:: NC_000011.10:g.65444665del, NC_000011.9:g.65212136del, NR_131012.1:n.21868del

Select item 6189545111.

rs61895451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65443271 (GRCh38)
11:65210742 (GRCh37)
Canonical SPDI:: NC_000011.10:65443270:C:T
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.008364/158 (ALFA)
T=0.000035/1 (TOMMO)
T=0.001249/6 (1000Genomes)
T=0.001667/1 (NorthernSweden)
T=0.004481/1186 (TOPMED)
T=0.005449/21 (ALSPAC)
T=0.005605/786 (GnomAD)
T=0.008091/30 (TWINSUK)
T=0.011022/11 (GoNL)
T=0.015402/69 (Estonian)
C=0.5/1 (Siberian)
HGVS:: NC_000011.10:g.65443271C>T, NC_000011.9:g.65210742C>T, NR_131012.1:n.20474C>T

Select item 6675688712.

rs66756887 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 11:65444283 (GRCh38)
11:65211754 (GRCh37)
Canonical SPDI:: NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:65444263:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTGTGTGTG=0.0621/311 (1000Genomes)
TGTGTGTGTGTGTGTGTGTGTG=0.5/20 (GENOME_DK)
HGVS:: NC_000011.10:g.65444265GT[9], NC_000011.10:g.65444265GT[10], NC_000011.10:g.65444265GT[11], NC_000011.10:g.65444265GT[12], NC_000011.10:g.65444265GT[13], NC_000011.10:g.65444265GT[14], NC_000011.10:g.65444265GT[15], NC_000011.10:g.65444265GT[16], NC_000011.10:g.65444265GT[17], NC_000011.10:g.65444265GT[18], NC_000011.10:g.65444265GT[19], NC_000011.10:g.65444265GT[20], NC_000011.10:g.65444265GT[21], NC_000011.10:g.65444265GT[22], NC_000011.10:g.65444265GT[23], NC_000011.10:g.65444265GT[24], NC_000011.10:g.65444265GT[25], NC_000011.10:g.65444265GT[26], NC_000011.10:g.65444265GT[27], NC_000011.10:g.65444265GT[28], NC_000011.10:g.65444265GT[30], NC_000011.10:g.65444265GT[31], NC_000011.10:g.65444265GT[32], NC_000011.10:g.65444265GT[33], NC_000011.10:g.65444265GT[34], NC_000011.10:g.65444265GT[35], NC_000011.9:g.65211736GT[9], NC_000011.9:g.65211736GT[10], NC_000011.9:g.65211736GT[11], NC_000011.9:g.65211736GT[12], NC_000011.9:g.65211736GT[13], NC_000011.9:g.65211736GT[14], NC_000011.9:g.65211736GT[15], NC_000011.9:g.65211736GT[16], NC_000011.9:g.65211736GT[17], NC_000011.9:g.65211736GT[18], NC_000011.9:g.65211736GT[19], NC_000011.9:g.65211736GT[20], NC_000011.9:g.65211736GT[21], NC_000011.9:g.65211736GT[22], NC_000011.9:g.65211736GT[23], NC_000011.9:g.65211736GT[24], NC_000011.9:g.65211736GT[25], NC_000011.9:g.65211736GT[26], NC_000011.9:g.65211736GT[27], NC_000011.9:g.65211736GT[28], NC_000011.9:g.65211736GT[30], NC_000011.9:g.65211736GT[31], NC_000011.9:g.65211736GT[32], NC_000011.9:g.65211736GT[33], NC_000011.9:g.65211736GT[34], NC_000011.9:g.65211736GT[35], NR_131012.1:n.21468GT[9], NR_131012.1:n.21468GT[10], NR_131012.1:n.21468GT[11], NR_131012.1:n.21468GT[12], NR_131012.1:n.21468GT[13], NR_131012.1:n.21468GT[14], NR_131012.1:n.21468GT[15], NR_131012.1:n.21468GT[16], NR_131012.1:n.21468GT[17], NR_131012.1:n.21468GT[18], NR_131012.1:n.21468GT[19], NR_131012.1:n.21468GT[20], NR_131012.1:n.21468GT[21], NR_131012.1:n.21468GT[22], NR_131012.1:n.21468GT[23], NR_131012.1:n.21468GT[24], NR_131012.1:n.21468GT[25], NR_131012.1:n.21468GT[26], NR_131012.1:n.21468GT[27], NR_131012.1:n.21468GT[28], NR_131012.1:n.21468GT[30], NR_131012.1:n.21468GT[31], NR_131012.1:n.21468GT[32], NR_131012.1:n.21468GT[33], NR_131012.1:n.21468GT[34], NR_131012.1:n.21468GT[35]

Select item 7147040613.

rs71470406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65442851 (GRCh38)
11:65210322 (GRCh37)
Canonical SPDI:: NC_000011.10:65442850:G:A
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65442851G>A, NC_000011.9:g.65210322G>A, NR_131012.1:n.20054G>A

Select item 7629492214.

rs76294922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:65443020 (GRCh38)
11:65210491 (GRCh37)
Canonical SPDI:: NC_000011.10:65443019:T:A,NC_000011.10:65443019:T:C
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.040815/771 (ALFA)
C=0.025/1 (GENOME_DK)
C=0.030134/135 (Estonian)
C=0.039794/5582 (GnomAD)
C=0.045336/12000 (TOPMED)
C=0.04904/189 (ALSPAC)
C=0.05151/191 (TWINSUK)
C=0.056667/34 (NorthernSweden)
C=0.06012/60 (GoNL)
C=0.060431/303 (1000Genomes)
C=0.087963/19 (Qatari)
C=0.184805/540 (KOREAN)
C=0.19214/352 (Korea1K)
C=0.203704/44 (Vietnamese)
C=0.214417/3593 (TOMMO)
T=0.333333/4 (Siberian)
T=0.445652/41 (SGDP_PRJ)
HGVS:: NC_000011.10:g.65443020T>A, NC_000011.10:g.65443020T>C, NC_000011.9:g.65210491T>A, NC_000011.9:g.65210491T>C, NR_131012.1:n.20223T>A, NR_131012.1:n.20223T>C

Select item 11243893915.

rs112438939 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:65442625 (GRCh38)
11:65210097 (GRCh37)
Canonical SPDI:: NC_000011.10:65442625::T
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.031673/445 (ALFA)
T=0.043219/6059 (GnomAD)
T=0.045703/12097 (TOPMED)
T=0.046377/232 (1000Genomes)
HGVS:: NC_000011.10:g.65442625_65442626insT, NC_000011.9:g.65210096_65210097insT, NR_131012.1:n.19828_19829insT

Select item 11289810216.

rs112898102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65443117 (GRCh38)
11:65210588 (GRCh37)
Canonical SPDI:: NC_000011.10:65443116:G:A
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.000156/1 (1000Genomes)
A=0.000221/31 (GnomAD)
A=0.000287/76 (TOPMED)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000011.10:g.65443117G>A, NC_000011.9:g.65210588G>A, NR_131012.1:n.20320G>A

Select item 11309750517.

rs113097505 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 11:65442473 (GRCh38)
11:65209944 (GRCh37)
Canonical SPDI:: NC_000011.10:65442472:AA:A
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.65442474del, NC_000011.9:g.65209945del, NR_131012.1:n.19677del

Select item 11406653618.

rs114066536 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65442899 (GRCh38)
11:65210370 (GRCh37)
Canonical SPDI:: NC_000011.10:65442898:A:G
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.004785/69 (ALFA)
G=0.00463/1 (Qatari)
G=0.006875/964 (GnomAD)
G=0.007503/1986 (TOPMED)
G=0.007808/39 (1000Genomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.65442899A>G, NC_000011.9:g.65210370A>G, NR_131012.1:n.20102A>G

Select item 11587380919.

rs115873809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65444356 (GRCh38)
11:65211827 (GRCh37)
Canonical SPDI:: NC_000011.10:65444355:A:G
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.006588/95 (ALFA)
G=0.000071/1 (TOMMO)
G=0.001873/1 (MGP)
G=0.00463/1 (Qatari)
G=0.009415/1280 (GnomAD)
G=0.009902/2621 (TOPMED)
G=0.012648/63 (1000Genomes)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000011.10:g.65444356A>G, NC_000011.9:g.65211827A>G, NR_131012.1:n.21559A>G

Select item 11668857020.

rs116688570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65444600 (GRCh38)
11:65212071 (GRCh37)
Canonical SPDI:: NC_000011.10:65444599:C:T
Gene:: NEAT1 (Varview), MIR612 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.011317/316 (ALFA)
T=0.005433/774 (GnomAD_exomes)
T=0.008419/140 (ExAC)
T=0.013889/3 (Qatari)
T=0.022873/214 (GoESP)
T=0.027877/3904 (GnomAD)
T=0.029091/7700 (TOPMED)
T=0.029981/150 (1000Genomes)
C=0.5/9 (SGDP_PRJ)
HGVS:: NC_000011.10:g.65444600C>T, NC_000011.9:g.65212071C>T, NR_131012.1:n.21803C>T

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