MIR183 - SNP

Search results

Items: 1 to 20 of 1177

<< First< Prev

Page of 59

Next >Last >>

Select item 412742391.

rs41274239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:129774734 (GRCh38)
7:129414574 (GRCh37)
Canonical SPDI:: NC_000007.14:129774733:A:G
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Clinical significance:: benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00402/198 (ALFA)
G=0.001249/6 (1000Genomes)
G=0.002505/663 (TOPMED)
G=0.002836/60 (ExAC)
G=0.002952/477 (GnomAD_exomes)
G=0.00326/457 (GnomAD)
G=0.003333/2 (NorthernSweden)
G=0.003339/34 (GoESP)
G=0.003745/2 (MGP)
G=0.004241/19 (Estonian)
G=0.005394/20 (TWINSUK)
G=0.006746/26 (ALSPAC)
G=0.008016/8 (GoNL)
HGVS:: NC_000007.14:g.129774734A>G, NC_000007.13:g.129414574A>G, NG_023385.1:g.5281T>C, NR_029512.1:n.36T>C

PubMed LitVar

Select item 726318332.

rs72631833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:129774964 (GRCh38)
7:129414804 (GRCh37)
Canonical SPDI:: NC_000007.14:129774963:C:A
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001492/67 (ALFA)
A=0./0 (ALSPAC)
A=0.00027/1 (TWINSUK)
A=0.001473/362 (GnomAD_exomes)
A=0.002205/196 (ExAC)
A=0.005051/52 (GoESP)
A=0.005477/768 (GnomAD)
A=0.005826/1542 (TOPMED)
A=0.006402/32 (1000Genomes)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000007.14:g.129774964C>A, NC_000007.13:g.129414804C>A, NG_023385.1:g.5051G>T, NR_029615.1:n.51G>T

PubMed LitVar

Select item 731596623.

rs73159662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:129774728 (GRCh38)
7:129414568 (GRCh37)
Canonical SPDI:: NC_000007.14:129774727:G:A
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.005258/259 (ALFA)
A=0.001874/9 (1000Genomes)
A=0.003006/3 (GoNL)
A=0.00313/66 (ExAC)
A=0.003762/607 (GnomAD_exomes)
A=0.004324/44 (GoESP)
A=0.004469/1183 (TOPMED)
A=0.004507/632 (GnomAD)
A=0.005273/88 (TOMMO)
A=0.00625/28 (Estonian)
A=0.007012/26 (TWINSUK)
A=0.007491/4 (MGP)
A=0.007642/14 (Korea1K)
A=0.010119/39 (ALSPAC)
A=0.010951/32 (KOREAN)
HGVS:: NC_000007.14:g.129774728G>A, NC_000007.13:g.129414568G>A, NG_023385.1:g.5287C>T, NR_029512.1:n.42C>T

PubMed LitVar

Select item 1143058094.

rs114305809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:129774566 (GRCh38)
7:129414406 (GRCh37)
Canonical SPDI:: NC_000007.14:129774565:C:T
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00527/76 (ALFA)
T=0.006871/34 (1000Genomes)
T=0.007407/1039 (GnomAD)
T=0.00776/2054 (TOPMED)
T=0.009259/2 (Qatari)
C=0.5/4 (SGDP_PRJ)
HGVS:: NC_000007.14:g.129774566C>T, NC_000007.13:g.129414406C>T, NG_023385.1:g.5449G>A

Select item 1402128795.

rs140212879 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:129774674 (GRCh38)
7:129414514 (GRCh37)
Canonical SPDI:: NC_000007.14:129774673:G:A
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002152/60 (ALFA)
A=0.000937/5 (1000Genomes)
A=0.001079/4 (TWINSUK)
A=0.001186/314 (TOPMED)
A=0.001187/24 (ExAC)
A=0.001414/14 (GoESP)
A=0.001667/1 (NorthernSweden)
A=0.002076/8 (ALSPAC)
A=0.002545/357 (GnomAD)
A=0.002639/414 (GnomAD_exomes)
A=0.004018/18 (Estonian)
A=0.008016/8 (GoNL)
HGVS:: NC_000007.14:g.129774674G>A, NC_000007.13:g.129414514G>A, NG_023385.1:g.5341C>T

Select item 3676839936.

rs367683993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:129774731 (GRCh38)
7:129414571 (GRCh37)
Canonical SPDI:: NC_000007.14:129774730:G:A
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000087/2 (ALFA)
A=0./0 (ExAC)
A=0.000012/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000098/1 (GoESP)
HGVS:: NC_000007.14:g.129774731G>A, NC_000007.13:g.129414571G>A, NG_023385.1:g.5284C>T, NR_029512.1:n.39C>T

Select item 3694519037.

rs369451903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:129775020 (GRCh38)
7:129414860 (GRCh37)
Canonical SPDI:: NC_000007.14:129775019:C:A,NC_000007.14:129775019:C:T
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00125/6 (1000Genomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.129775020C>A, NC_000007.14:g.129775020C>T, NC_000007.13:g.129414860C>A, NC_000007.13:g.129414860C>T, NG_023385.1:g.4995G>T, NG_023385.1:g.4995G>A

Select item 3753680928.

rs375368092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:129774774 (GRCh38)
7:129414614 (GRCh37)
Canonical SPDI:: NC_000007.14:129774773:G:A
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000025/4 (GnomAD_exomes)
A=0.00011/29 (TOPMED)
A=0.000128/18 (GnomAD)
A=0.000139/3 (ExAC)
A=0.000196/2 (GoESP)
HGVS:: NC_000007.14:g.129774774G>A, NC_000007.13:g.129414614G>A, NG_023385.1:g.5241C>T

Select item 5630466659.

rs563046665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:129774910 (GRCh38)
7:129414750 (GRCh37)
Canonical SPDI:: NC_000007.14:129774909:G:A,NC_000007.14:129774909:G:T
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000179/8 (ALFA)
T=0.000158/39 (GnomAD_exomes)
T=0.000177/17 (ExAC)
T=0.000193/27 (GnomAD)
T=0.003006/3 (GoNL)
HGVS:: NC_000007.14:g.129774910G>A, NC_000007.14:g.129774910G>T, NC_000007.13:g.129414750G>A, NC_000007.13:g.129414750G>T, NG_023385.1:g.5105C>T, NG_023385.1:g.5105C>A, NR_029615.1:n.105C>T, NR_029615.1:n.105C>A

Select item 58777652210.

rs587776522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:129774757 (GRCh38)
7:129414597 (GRCh37)
Canonical SPDI:: NC_000007.14:129774756:C:T
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.129774757C>T, NC_000007.13:g.129414597C>T, NG_023385.1:g.5258G>A, NR_029512.1:n.13G>A

Select item 58777652311.

rs587776523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:129774756 (GRCh38)
7:129414596 (GRCh37)
Canonical SPDI:: NC_000007.14:129774755:G:A,NC_000007.14:129774755:G:T
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Clinical significance:: pathogenic,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.129774756G>A, NC_000007.14:g.129774756G>T, NC_000007.13:g.129414596G>A, NC_000007.13:g.129414596G>T, NG_023385.1:g.5259C>T, NG_023385.1:g.5259C>A, NR_029512.1:n.14C>T, NR_029512.1:n.14C>A

Select item 142552898612.

rs1425528986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:129774702 (GRCh38)
7:129414542 (GRCh37)
Canonical SPDI:: NC_000007.14:129774701:T:C
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.129774702T>C, NC_000007.13:g.129414542T>C, NG_023385.1:g.5313A>G, NR_029512.1:n.68A>G

Select item 211615778813.

rs2116157788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:129774766 (GRCh38)
7:129414606 (GRCh37)
Canonical SPDI:: NC_000007.14:129774765:G:A
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000007.14:g.129774766G>A, NC_000007.13:g.129414606G>A, NG_023385.1:g.5249C>T, NR_029512.1:n.4C>T

Select item 433505714.

rs4335057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:129776195 (GRCh38)
7:129416035 (GRCh37)
Canonical SPDI:: NC_000007.14:129776194:A:G,NC_000007.14:129776194:A:T
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.402082/5022 (ALFA)
G=0.028571/6 (Vietnamese)
G=0.037118/68 (Korea1K)
G=0.037329/109 (KOREAN)
G=0.120638/2022 (TOMMO)
A=0.305556/11 (Siberian)
A=0.344828/100 (SGDP_PRJ)
G=0.369925/1853 (1000Genomes)
G=0.438333/263 (NorthernSweden)
A=0.44/44 (PRJEB36033)
A=0.45/18 (GENOME_DK)
A=0.471143/1747 (TWINSUK)
A=0.483259/2165 (Estonian)
A=0.48998/489 (GoNL)
A=0.49014/1889 (ALSPAC)
G=0.492164/130271 (TOPMED)
G=0.49537/107 (Qatari)
A=0.499064/69878 (GnomAD)
HGVS:: NC_000007.14:g.129776195A>G, NC_000007.14:g.129776195A>T, NC_000007.13:g.129416035A>G, NC_000007.13:g.129416035A>T, NG_023385.1:g.3820T>C, NG_023385.1:g.3820T>A

Select item 694790815.

rs6947908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:129776863 (GRCh38)
7:129416703 (GRCh37)
Canonical SPDI:: NC_000007.14:129776862:C:G,NC_000007.14:129776862:C:T
Gene:: MIR183 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.37218/3663 (ALFA)
T=0.033019/7 (Vietnamese)
T=0.037988/111 (KOREAN)
T=0.03821/70 (Korea1K)
T=0.121363/2033 (TOMMO)
C=0.305556/11 (Siberian)
C=0.340278/98 (SGDP_PRJ)
T=0.367739/1842 (1000Genomes)
T=0.44/264 (NorthernSweden)
C=0.45/18 (GENOME_DK)
C=0.470604/1745 (TWINSUK)
T=0.472222/102 (Qatari)
C=0.487042/2180 (Estonian)
C=0.490919/1892 (ALSPAC)
T=0.491768/130166 (TOPMED)
C=0.491984/491 (GoNL)
C=0.498083/68863 (GnomAD)
HGVS:: NC_000007.14:g.129776863C>G, NC_000007.14:g.129776863C>T, NC_000007.13:g.129416703C>G, NC_000007.13:g.129416703C>T, NG_023385.1:g.3152G>C, NG_023385.1:g.3152G>A

Select item 694793916.

rs6947939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:129776930 (GRCh38)
7:129416770 (GRCh37)
Canonical SPDI:: NC_000007.14:129776929:C:T
Gene:: MIR183 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.485088/8100 (ALFA)
T=0.028571/6 (Vietnamese)
T=0.037645/110 (KOREAN)
T=0.037664/69 (Korea1K)
T=0.120816/2017 (TOMMO)
C=0.305556/11 (Siberian)
C=0.340278/98 (SGDP_PRJ)
T=0.368051/1843 (1000Genomes)
T=0.44/264 (NorthernSweden)
C=0.45/18 (GENOME_DK)
C=0.470334/1744 (TWINSUK)
T=0.476852/103 (Qatari)
C=0.488829/2188 (Estonian)
C=0.490659/1891 (ALSPAC)
C=0.490982/490 (GoNL)
T=0.491934/130210 (TOPMED)
C=0.493307/64933 (GnomAD)
HGVS:: NC_000007.14:g.129776930C>T, NC_000007.13:g.129416770C>T, NG_023385.1:g.3085G>A

Select item 781130017.

rs7811300 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 7:129775219 (GRCh38)
7:129415059 (GRCh37)
Canonical SPDI:: NC_000007.14:129775218:A:C,NC_000007.14:129775218:A:G,NC_000007.14:129775218:A:T
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.017152/324 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (GENOME_DK)
C=0./0 (KOREAN)
A=0./0 (Korea1K)
A=0./0 (NorthernSweden)
A=0./0 (Siberian)
A=0./0 (TOMMO)
A=0./0 (Vietnamese)
A=0.000809/3 (TWINSUK)
A=0.005376/3 (SGDP_PRJ)
A=0.023148/5 (Qatari)
A=0.030957/4342 (GnomAD)
A=0.031822/8423 (TOPMED)
A=0.034041/170 (1000Genomes)
A=0.084416/26 (HapMap)
HGVS:: NC_000007.14:g.129775219A>C, NC_000007.14:g.129775219A>G, NC_000007.14:g.129775219A>T, NC_000007.13:g.129415059A>C, NC_000007.13:g.129415059A>G, NC_000007.13:g.129415059A>T, NG_023385.1:g.4796T>G, NG_023385.1:g.4796T>C, NG_023385.1:g.4796T>A

Select item 1253858818.

rs12538588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:129776512 (GRCh38)
7:129416352 (GRCh37)
Canonical SPDI:: NC_000007.14:129776511:G:A,NC_000007.14:129776511:G:T
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.289053/3327 (ALFA)
A=0.037303/109 (KOREAN)
A=0.037705/69 (Korea1K)
A=0.120603/2021 (TOMMO)
A=0.194631/58 (HapMap)
A=0.233292/1168 (1000Genomes)
G=0.323529/11 (Siberian)
A=0.347222/75 (Qatari)
G=0.359223/74 (SGDP_PRJ)
A=0.36072/95479 (TOPMED)
A=0.393333/236 (NorthernSweden)
A=0.469643/2104 (Estonian)
A=0.475/19 (GENOME_DK)
A=0.476907/1838 (ALSPAC)
A=0.487976/487 (GoNL)
A=0.497573/1845 (TWINSUK)
HGVS:: NC_000007.14:g.129776512G>A, NC_000007.14:g.129776512G>T, NC_000007.13:g.129416352G>A, NC_000007.13:g.129416352G>T, NG_023385.1:g.3503C>T, NG_023385.1:g.3503C>A

LitVar

Select item 1323174019.

rs13231740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:129775479 (GRCh38)
7:129415319 (GRCh37)
Canonical SPDI:: NC_000007.14:129775478:A:C
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.425817/7112 (ALFA)
C=0.023364/5 (Vietnamese)
C=0.038382/112 (KOREAN)
C=0.038755/71 (Korea1K)
C=0.124814/2092 (TOMMO)
C=0.244847/1226 (1000Genomes)
A=0.323529/11 (Siberian)
A=0.359813/77 (SGDP_PRJ)
C=0.361111/78 (Qatari)
C=0.370822/98153 (TOPMED)
C=0.38169/53461 (GnomAD)
C=0.401667/241 (NorthernSweden)
C=0.470313/2107 (Estonian)
C=0.475/19 (GENOME_DK)
C=0.476907/1838 (ALSPAC)
C=0.488978/488 (GoNL)
C=0.498112/1847 (TWINSUK)
HGVS:: NC_000007.14:g.129775479A>C, NC_000007.13:g.129415319A>C, NG_023385.1:g.4536T>G

Select item 1755772220.

rs17557722 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:129776114 (GRCh38)
7:129415954 (GRCh37)
Canonical SPDI:: NC_000007.14:129776113:T:C
Gene:: MIR183 (Varview), MIR96 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000114/16 (GnomAD)
C=0.000151/40 (TOPMED)
C=0.000156/1 (1000Genomes)
C=0.000546/1 (Korea1K)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.129776114T>C, NC_000007.13:g.129415954T>C, NG_023385.1:g.3901A>G

<< First< Prev

Page of 59

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Search results

Items: 1 to 20 of 1177

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity