MIR516A2 - SNP

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Select item 5835691.

rs583569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 19:53759850 (GRCh38)
19:54263104 (GRCh37)
Canonical SPDI:: NC_000019.10:53759849:T:A,NC_000019.10:53759849:T:C,NC_000019.10:53759849:T:G
Gene:: MIR516A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.214827/23255 (ALFA)
T=0.093458/20 (Vietnamese)
T=0.130759/2192 (TOMMO)
T=0.131058/384 (KOREAN)
T=0.139738/256 (Korea1K)
T=0.144981/78 (SGDP_PRJ)
T=0.160268/718 (Estonian)
T=0.166615/834 (1000Genomes)
T=0.169862/319 (HapMap)
T=0.184433/25818 (GnomAD)
T=0.188311/49844 (TOPMED)
T=0.197115/410 (HGDP_Stanford)
T=0.198333/119 (NorthernSweden)
T=0.203704/44 (Qatari)
T=0.222222/12 (Siberian)
T=0.239479/239 (GoNL)
T=0.239751/924 (ALSPAC)
T=0.25/10 (GENOME_DK)
T=0.253236/939 (TWINSUK)
T=0.264706/18 (PRJEB36033)
HGVS:: NC_000019.10:g.53759850T>A, NC_000019.10:g.53759850T>C, NC_000019.10:g.53759850T>G, NC_000019.9:g.54263104T>A, NC_000019.9:g.54263104T>C, NC_000019.9:g.54263104T>G

Select item 6118522.

rs611852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:53761553 (GRCh38)
19:54264807 (GRCh37)
Canonical SPDI:: NC_000019.10:53761552:C:G,NC_000019.10:53761552:C:T
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.254295/4529 (ALFA)
C=0.197545/885 (Estonian)
C=0.225/135 (NorthernSweden)
C=0.244094/124 (SGDP_PRJ)
C=0.25/10 (GENOME_DK)
C=0.25/11 (Siberian)
C=0.2548/982 (ALSPAC)
C=0.256513/256 (GoNL)
C=0.263889/57 (Qatari)
C=0.272384/1010 (TWINSUK)
C=0.2818/39386 (GnomAD)
C=0.296823/78566 (TOPMED)
C=0.322611/1616 (1000Genomes)
C=0.366667/77 (Vietnamese)
T=0.495753/8309 (TOMMO)
C=0.496246/1454 (KOREAN)
C=0.499454/915 (Korea1K)
HGVS:: NC_000019.10:g.53761553C>G, NC_000019.10:g.53761553C>T, NC_000019.9:g.54264807C>G, NC_000019.9:g.54264807C>T

Select item 8517483.

rs851748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 19:53761540 (GRCh38)
19:54264794 (GRCh37)
Canonical SPDI:: NC_000019.10:53761539:A:C,NC_000019.10:53761539:A:G,NC_000019.10:53761539:A:T
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.203812/3850 (ALFA)
T=0./0 (KOREAN)
A=0.084906/18 (Vietnamese)
A=0.132918/2228 (TOMMO)
A=0.143013/262 (Korea1K)
A=0.14684/79 (SGDP_PRJ)
A=0.171299/858 (1000Genomes)
A=0.175446/786 (Estonian)
A=0.193536/27092 (GnomAD)
A=0.196706/52066 (TOPMED)
A=0.213333/128 (NorthernSweden)
A=0.217593/47 (Qatari)
A=0.222222/12 (Siberian)
A=0.25/10 (GENOME_DK)
A=0.252465/973 (ALSPAC)
A=0.256513/256 (GoNL)
A=0.270766/1004 (TWINSUK)
HGVS:: NC_000019.10:g.53761540A>C, NC_000019.10:g.53761540A>G, NC_000019.10:g.53761540A>T, NC_000019.9:g.54264794A>C, NC_000019.9:g.54264794A>G, NC_000019.9:g.54264794A>T

Select item 25612634.

rs2561263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53761068 (GRCh38)
19:54264322 (GRCh37)
Canonical SPDI:: NC_000019.10:53761067:C:T
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (HapMap)
T=0./0 (Korea1K)
T=0.000049/13 (TOPMED)
T=0.000064/9 (GnomAD)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000019.10:g.53761068C>T, NC_000019.9:g.54264322C>T

Select item 25612645.

rs2561264 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:53761287 (GRCh38)
19:54264541 (GRCh37)
Canonical SPDI:: NC_000019.10:53761286:A:G,NC_000019.10:53761286:A:T
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000164/23 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.53761287A>G, NC_000019.10:g.53761287A>T, NC_000019.9:g.54264541A>G, NC_000019.9:g.54264541A>T

Select item 104077616.

rs10407761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53760168 (GRCh38)
19:54263422 (GRCh37)
Canonical SPDI:: NC_000019.10:53760167:G:A
Gene:: MIR516A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.026947/530 (ALFA)
A=0.000519/2 (ALSPAC)
A=0.001348/5 (TWINSUK)
A=0.011667/7 (NorthernSweden)
A=0.021652/97 (Estonian)
A=0.023148/5 (Qatari)
A=0.045697/6389 (GnomAD)
A=0.05429/14370 (TOPMED)
A=0.097751/490 (1000Genomes)
G=0.25/3 (Siberian)
A=0.254717/54 (Vietnamese)
A=0.353825/1036 (KOREAN)
A=0.361278/6055 (TOMMO)
G=0.433962/46 (SGDP_PRJ)
HGVS:: NC_000019.10:g.53760168G>A, NC_000019.9:g.54263422G>A, NG_043727.1:g.121C>T

Select item 116675907.

rs11667590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53760752 (GRCh38)
19:54264006 (GRCh37)
Canonical SPDI:: NC_000019.10:53760751:C:T
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.027778/533 (ALFA)
T=0.000342/1 (KOREAN)
T=0.009146/3 (HapMap)
T=0.009525/48 (1000Genomes)
T=0.020711/5482 (TOPMED)
T=0.023148/5 (Qatari)
T=0.023929/3352 (GnomAD)
T=0.026667/16 (NorthernSweden)
T=0.03452/128 (TWINSUK)
T=0.03683/165 (Estonian)
T=0.03944/152 (ALSPAC)
T=0.04509/45 (GoNL)
T=0.05/2 (GENOME_DK)
C=0.5/2 (Siberian)
C=0.5/5 (SGDP_PRJ)
HGVS:: NC_000019.10:g.53760752C>T, NC_000019.9:g.54264006C>T

Select item 118795638.

rs11879563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:53761555 (GRCh38)
19:54264809 (GRCh37)
Canonical SPDI:: NC_000019.10:53761554:C:A,NC_000019.10:53761554:C:G,NC_000019.10:53761554:C:T
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.415117/4064 (ALFA)
A=0.16498/2765 (TOMMO)
A=0.165188/484 (KOREAN)
A=0.173581/318 (Korea1K)
C=0.325/13 (Siberian)
C=0.35/14 (GENOME_DK)
C=0.35503/120 (SGDP_PRJ)
A=0.383666/1921 (1000Genomes)
C=0.383929/1720 (Estonian)
C=0.424488/1574 (TWINSUK)
C=0.425532/1640 (ALSPAC)
C=0.436874/436 (GoNL)
A=0.456848/120923 (TOPMED)
C=0.458333/99 (Qatari)
C=0.461667/277 (NorthernSweden)
HGVS:: NC_000019.10:g.53761555C>A, NC_000019.10:g.53761555C>G, NC_000019.10:g.53761555C>T, NC_000019.9:g.54264809C>A, NC_000019.9:g.54264809C>G, NC_000019.9:g.54264809C>T

Select item 129794079.

rs12979407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:53761583 (GRCh38)
19:54264837 (GRCh37)
Canonical SPDI:: NC_000019.10:53761582:G:A,NC_000019.10:53761582:G:T
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00534/99 (ALFA)
A=0./0 (HapMap)
A=0.00039/7 (TOMMO)
A=0.00103/3 (KOREAN)
A=0.00109/2 (Korea1K)
A=0.00333/2 (NorthernSweden)
A=0.00926/2 (Qatari)
A=0.01093/55 (1000Genomes)
A=0.01403/14 (GoNL)
A=0.01453/56 (ALSPAC)
A=0.01456/54 (TWINSUK)
A=0.02076/93 (Estonian)
A=0.025/1 (GENOME_DK)
G=0.4375/7 (SGDP_PRJ)
G=0.5/3 (Siberian)
HGVS:: NC_000019.10:g.53761583G>A, NC_000019.10:g.53761583G>T, NC_000019.9:g.54264837G>A, NC_000019.9:g.54264837G>T

Select item 2843987310.

rs28439873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:53759993 (GRCh38)
19:54263247 (GRCh37)
Canonical SPDI:: NC_000019.10:53759992:T:A,NC_000019.10:53759992:T:C
Gene:: MIR516A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000169/2 (ALFA)
C=0.000259/1 (ALSPAC)
C=0.000539/2 (TWINSUK)
C=0.00463/1 (Qatari)
C=0.021674/5737 (TOPMED)
C=0.022081/2884 (GnomAD)
C=0.022954/115 (1000Genomes)
T=0.5/9 (SGDP_PRJ)
HGVS:: NC_000019.10:g.53759993T>A, NC_000019.10:g.53759993T>C, NC_000019.9:g.54263247T>A, NC_000019.9:g.54263247T>C, NG_043727.1:g.296A>T, NG_043727.1:g.296A>G

Select item 6214616011.

rs62146160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:53761112 (GRCh38)
19:54264366 (GRCh37)
Canonical SPDI:: NC_000019.10:53761111:C:A
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.53761112C>A, NC_000019.9:g.54264366C>A

Select item 7136336812.

rs71363368 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:53759755 (GRCh38)
19:54263009 (GRCh37)
Canonical SPDI:: NC_000019.10:53759754:A:C,NC_000019.10:53759754:A:G
Gene:: MIR516A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.005723/103 (ALFA)
C=0.000389/7 (TOMMO)
C=0.000684/2 (KOREAN)
C=0.001092/2 (Korea1K)
C=0.003333/2 (NorthernSweden)
C=0.013026/13 (GoNL)
C=0.01453/56 (ALSPAC)
C=0.015372/57 (TWINSUK)
C=0.021205/95 (Estonian)
C=0.025/1 (GENOME_DK)
C=0.032407/7 (Qatari)
C=0.039484/10451 (TOPMED)
C=0.043723/219 (1000Genomes)
A=0.47619/20 (SGDP_PRJ)
A=0.5/3 (Siberian)
HGVS:: NC_000019.10:g.53759755A>C, NC_000019.10:g.53759755A>G, NC_000019.9:g.54263009A>C, NC_000019.9:g.54263009A>G

Select item 7215651813.

rs72156518 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 19:53759305 (GRCh38)
19:54262559 (GRCh37)
Canonical SPDI:: NC_000019.10:53759299:AAGAAGAA:AAGAA
Gene:: MIR516A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAA=0.016014/225 (ALFA)
-=0.000259/1 (ALSPAC)
-=0.000539/2 (TWINSUK)
-=0.020476/2869 (GnomAD)
-=0.021618/5722 (TOPMED)
-=0.023267/117 (1000Genomes)
HGVS:: NC_000019.10:g.53759302GAA[1], NC_000019.9:g.54262556GAA[1]

Select item 7631499014.

rs76314990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:53759583 (GRCh38)
19:54262837 (GRCh37)
Canonical SPDI:: NC_000019.10:53759582:A:T
Gene:: MIR516A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001664/24 (ALFA)
T=0.001687/236 (GnomAD)
T=0.001991/527 (TOPMED)
T=0.002342/12 (1000Genomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.53759583A>T, NC_000019.9:g.54262837A>T

Select item 7725322515.

rs77253225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:53761099 (GRCh38)
19:54264353 (GRCh37)
Canonical SPDI:: NC_000019.10:53761098:A:C,NC_000019.10:53761098:A:G
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000029/3 (GnomAD_exomes)
G=0.000056/7 (GnomAD)
G=0.000097/1 (GoESP)
G=0.00014/37 (TOPMED)
G=0.000177/2 (ExAC)
HGVS:: NC_000019.10:g.53761099A>C, NC_000019.10:g.53761099A>G, NC_000019.9:g.54264353A>C, NC_000019.9:g.54264353A>G

Select item 7754063116.

rs77540631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:53759452 (GRCh38)
19:54262706 (GRCh37)
Canonical SPDI:: NC_000019.10:53759451:G:C
Gene:: MIR516A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002635/38 (ALFA)
C=0.002841/398 (GnomAD)
C=0.003177/841 (TOPMED)
C=0.007183/36 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.53759452G>C, NC_000019.9:g.54262706G>C

Select item 7820007317.

rs78200073 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53760366 (GRCh38)
19:54263620 (GRCh37)
Canonical SPDI:: NC_000019.10:53760365:T:C
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.005548/80 (ALFA)
C=0.008868/1243 (GnomAD)
C=0.009259/2 (Qatari)
C=0.009434/2497 (TOPMED)
C=0.010618/53 (1000Genomes)
T=0.5/4 (SGDP_PRJ)
HGVS:: NC_000019.10:g.53760366T>C, NC_000019.9:g.54263620T>C

Select item 11437686918.

rs114376869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:53761230 (GRCh38)
19:54264484 (GRCh37)
Canonical SPDI:: NC_000019.10:53761229:C:G,NC_000019.10:53761229:C:T
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.004545/244 (ALFA)
T=0.001873/1 (MGP)
T=0.004501/1121 (GnomAD_exomes)
T=0.005215/630 (ExAC)
T=0.013889/3 (Qatari)
T=0.016699/172 (GoESP)
T=0.018233/2556 (GnomAD)
T=0.020612/103 (1000Genomes)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000019.10:g.53761230C>G, NC_000019.10:g.53761230C>T, NC_000019.9:g.54264484C>G, NC_000019.9:g.54264484C>T

Select item 11462983819.

rs114629838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53759418 (GRCh38)
19:54262672 (GRCh37)
Canonical SPDI:: NC_000019.10:53759417:G:A
Gene:: MIR516A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.006796/98 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.00463/1 (Qatari)
A=0.009653/1353 (GnomAD)
A=0.01051/2782 (TOPMED)
A=0.011868/59 (1000Genomes)
HGVS:: NC_000019.10:g.53759418G>A, NC_000019.9:g.54262672G>A

Select item 11528999320.

rs115289993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53760663 (GRCh38)
19:54263917 (GRCh37)
Canonical SPDI:: NC_000019.10:53760662:C:T
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003842/47 (ALFA)
T=0.003731/523 (GnomAD)
T=0.00812/41 (1000Genomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.53760663C>T, NC_000019.9:g.54263917C>T

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