(SNORA51[gene]) Homo sapiens[organism] - SNP

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Select item 20731941.

rs2073194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 20:2653290 (GRCh38)
20:2633936 (GRCh37)
Canonical SPDI:: NC_000020.11:2653289:T:A,NC_000020.11:2653289:T:C,NC_000020.11:2653289:T:G
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.191645/12657 (ALFA)
T=0.133829/72 (SGDP_PRJ)
T=0.136477/683 (1000Genomes)
T=0.14/7 (Siberian)
T=0.148895/39411 (TOPMED)
T=0.157377/96 (Vietnamese)
T=0.158036/708 (Estonian)
T=0.159176/85 (MGP)
T=0.161184/49 (FINRISK)
T=0.165693/2155 (GoESP)
T=0.175085/513 (KOREAN)
T=0.177402/325 (Korea1K)
T=0.18/108 (NorthernSweden)
T=0.202527/3394 (TOMMO)
T=0.216399/834 (ALSPAC)
T=0.216559/803 (TWINSUK)
T=0.231481/50 (Qatari)
T=0.240481/240 (GoNL)
T=0.3/12 (GENOME_DK)
HGVS:: NC_000020.11:g.2653290T>A, NC_000020.11:g.2653290T>C, NC_000020.11:g.2653290T>G, NC_000020.10:g.2633936T>A, NC_000020.10:g.2633936T>C, NC_000020.10:g.2633936T>G, NG_032136.1:g.5759T>A, NG_032136.1:g.5759T>C, NG_032136.1:g.5759T>G, NM_006392.4:c.105T>A, NM_006392.4:c.105T>C, NM_006392.4:c.105T>G, NM_006392.3:c.105T>A, NM_006392.3:c.105T>C, NM_006392.3:c.105T>G, NR_027700.3:n.134T>A, NR_027700.3:n.134T>C, NR_027700.3:n.134T>G, NR_027700.2:n.234T>A, NR_027700.2:n.234T>C, NR_027700.2:n.234T>G, NR_145428.2:n.134T>A, NR_145428.2:n.134T>C, NR_145428.2:n.134T>G, NR_145428.1:n.234T>A, NR_145428.1:n.234T>C, NR_145428.1:n.234T>G

Select item 22731372.

rs2273137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:2654566 (GRCh38)
20:2635212 (GRCh37)
Canonical SPDI:: NC_000020.11:2654565:A:G
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.080356/29033 (ALFA)
G=0./0 (PRJEB36033)
G=0.064815/14 (Qatari)
G=0.065543/35 (MGP)
G=0.067981/262 (ALSPAC)
G=0.070045/911 (GoESP)
G=0.072818/10207 (GnomAD)
G=0.073146/73 (GoNL)
G=0.075/3 (GENOME_DK)
G=0.076052/282 (TWINSUK)
G=0.078947/24 (FINRISK)
G=0.080819/21392 (TOPMED)
G=0.085491/383 (Estonian)
G=0.101667/61 (NorthernSweden)
G=0.103697/12587 (ExAC)
G=0.105781/8325 (PAGE_STUDY)
G=0.107118/26928 (GnomAD_exomes)
G=0.115397/578 (1000Genomes)
G=0.116123/242 (HGDP_Stanford)
G=0.118393/224 (HapMap)
G=0.200935/43 (Vietnamese)
G=0.23427/3926 (TOMMO)
G=0.241162/191 (PRJEB37584)
G=0.250546/459 (Korea1K)
G=0.266553/781 (KOREAN)
A=0.416667/10 (Siberian)
A=0.462687/62 (SGDP_PRJ)
HGVS:: NC_000020.11:g.2654566A>G, NC_000020.10:g.2635212A>G, NG_032136.1:g.7035A>G, NM_006392.4:c.361A>G, NM_006392.3:c.361A>G, NR_027700.3:n.390A>G, NR_027700.2:n.490A>G, NR_145428.2:n.390A>G, NR_145428.1:n.490A>G, NP_006383.2:p.Ile121Val

PubMed

Select item 13604944853.

rs1360494485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:2654830 (GRCh38)
20:2635476 (GRCh37)
Canonical SPDI:: NC_000020.11:2654829:G:C
Gene:: NOP56 (Varview), SNORD56 (Varview), SNORA51 (Varview), SNORD86 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.2654830G>C, NC_000020.10:g.2635476G>C, NG_032136.1:g.7299G>C, NM_006392.4:c.452G>C, NM_006392.3:c.452G>C, NR_027700.3:n.481G>C, NR_027700.2:n.581G>C, NR_145428.2:n.481G>C, NR_145428.1:n.581G>C, NP_006383.2:p.Ser151Thr

Select item 1175898614.

rs117589861 has merged into rs2073194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 20:2653290 (GRCh38)
20:2633936 (GRCh37)
Canonical SPDI:: NC_000020.11:2653289:T:A,NC_000020.11:2653289:T:C,NC_000020.11:2653289:T:G
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.191645/12657 (ALFA)
T=0.133829/72 (SGDP_PRJ)
T=0.136477/683 (1000Genomes)
T=0.14/7 (Siberian)
T=0.148895/39411 (TOPMED)
T=0.157377/96 (Vietnamese)
T=0.158036/708 (Estonian)
T=0.159176/85 (MGP)
T=0.161184/49 (FINRISK)
T=0.165693/2155 (GoESP)
T=0.175085/513 (KOREAN)
T=0.177402/325 (Korea1K)
T=0.18/108 (NorthernSweden)
T=0.202527/3394 (TOMMO)
T=0.216399/834 (ALSPAC)
T=0.216559/803 (TWINSUK)
T=0.231481/50 (Qatari)
T=0.240481/240 (GoNL)
T=0.3/12 (GENOME_DK)
HGVS:: NC_000020.11:g.2653290T>A, NC_000020.11:g.2653290T>C, NC_000020.11:g.2653290T>G, NC_000020.10:g.2633936T>A, NC_000020.10:g.2633936T>C, NC_000020.10:g.2633936T>G, NG_032136.1:g.5759T>A, NG_032136.1:g.5759T>C, NG_032136.1:g.5759T>G, NM_006392.4:c.105T>A, NM_006392.4:c.105T>C, NM_006392.4:c.105T>G, NM_006392.3:c.105T>A, NM_006392.3:c.105T>C, NM_006392.3:c.105T>G, NR_027700.3:n.134T>A, NR_027700.3:n.134T>C, NR_027700.3:n.134T>G, NR_027700.2:n.234T>A, NR_027700.2:n.234T>C, NR_027700.2:n.234T>G, NR_145428.2:n.134T>A, NR_145428.2:n.134T>C, NR_145428.2:n.134T>G, NR_145428.1:n.234T>A, NR_145428.1:n.234T>C, NR_145428.1:n.234T>G

Select item 130450475.

rs13045047 has merged into rs2073194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 20:2653290 (GRCh38)
20:2633936 (GRCh37)
Canonical SPDI:: NC_000020.11:2653289:T:A,NC_000020.11:2653289:T:C,NC_000020.11:2653289:T:G
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.191645/12657 (ALFA)
T=0.133829/72 (SGDP_PRJ)
T=0.136477/683 (1000Genomes)
T=0.14/7 (Siberian)
T=0.148895/39411 (TOPMED)
T=0.157377/96 (Vietnamese)
T=0.158036/708 (Estonian)
T=0.159176/85 (MGP)
T=0.161184/49 (FINRISK)
T=0.165693/2155 (GoESP)
T=0.175085/513 (KOREAN)
T=0.177402/325 (Korea1K)
T=0.18/108 (NorthernSweden)
T=0.202527/3394 (TOMMO)
T=0.216399/834 (ALSPAC)
T=0.216559/803 (TWINSUK)
T=0.231481/50 (Qatari)
T=0.240481/240 (GoNL)
T=0.3/12 (GENOME_DK)
HGVS:: NC_000020.11:g.2653290T>A, NC_000020.11:g.2653290T>C, NC_000020.11:g.2653290T>G, NC_000020.10:g.2633936T>A, NC_000020.10:g.2633936T>C, NC_000020.10:g.2633936T>G, NG_032136.1:g.5759T>A, NG_032136.1:g.5759T>C, NG_032136.1:g.5759T>G, NM_006392.4:c.105T>A, NM_006392.4:c.105T>C, NM_006392.4:c.105T>G, NM_006392.3:c.105T>A, NM_006392.3:c.105T>C, NM_006392.3:c.105T>G, NR_027700.3:n.134T>A, NR_027700.3:n.134T>C, NR_027700.3:n.134T>G, NR_027700.2:n.234T>A, NR_027700.2:n.234T>C, NR_027700.2:n.234T>G, NR_145428.2:n.134T>A, NR_145428.2:n.134T>C, NR_145428.2:n.134T>G, NR_145428.1:n.234T>A, NR_145428.1:n.234T>C, NR_145428.1:n.234T>G

Select item 569863046.

rs56986304 has merged into rs2273137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:2654566 (GRCh38)
20:2635212 (GRCh37)
Canonical SPDI:: NC_000020.11:2654565:A:G
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.080356/29033 (ALFA)
G=0./0 (PRJEB36033)
G=0.064815/14 (Qatari)
G=0.065543/35 (MGP)
G=0.067981/262 (ALSPAC)
G=0.070045/911 (GoESP)
G=0.072818/10207 (GnomAD)
G=0.073146/73 (GoNL)
G=0.075/3 (GENOME_DK)
G=0.076052/282 (TWINSUK)
G=0.078947/24 (FINRISK)
G=0.080819/21392 (TOPMED)
G=0.085491/383 (Estonian)
G=0.101667/61 (NorthernSweden)
G=0.103697/12587 (ExAC)
G=0.105781/8325 (PAGE_STUDY)
G=0.107118/26928 (GnomAD_exomes)
G=0.115397/578 (1000Genomes)
G=0.116123/242 (HGDP_Stanford)
G=0.118393/224 (HapMap)
G=0.200935/43 (Vietnamese)
G=0.23427/3926 (TOMMO)
G=0.241162/191 (PRJEB37584)
G=0.250546/459 (Korea1K)
G=0.266553/781 (KOREAN)
A=0.416667/10 (Siberian)
A=0.462687/62 (SGDP_PRJ)
HGVS:: NC_000020.11:g.2654566A>G, NC_000020.10:g.2635212A>G, NG_032136.1:g.7035A>G, NM_006392.4:c.361A>G, NM_006392.3:c.361A>G, NR_027700.3:n.390A>G, NR_027700.2:n.490A>G, NR_145428.2:n.390A>G, NR_145428.1:n.490A>G, NP_006383.2:p.Ile121Val

Select item 7428427.

rs742842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:2655572 (GRCh38)
20:2636218 (GRCh37)
Canonical SPDI:: NC_000020.11:2655571:C:A,NC_000020.11:2655571:C:G
Gene:: NOP56 (Varview), SNORD57 (Varview), SNORD56 (Varview), SNORA51 (Varview), SNORD86 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.173898/8304 (ALFA)
A=0.029761/499 (TOMMO)
A=0.036572/67 (Korea1K)
A=0.050512/148 (KOREAN)
A=0.068404/42 (Vietnamese)
A=0.109937/208 (HapMap)
A=0.116021/581 (1000Genomes)
A=0.125/27 (Qatari)
A=0.154627/18772 (ExAC)
A=0.158004/2055 (GoESP)
A=0.158854/42047 (TOPMED)
A=0.159812/22391 (GnomAD)
A=0.181769/674 (TWINSUK)
A=0.185/111 (NorthernSweden)
A=0.186373/186 (GoNL)
A=0.188635/727 (ALSPAC)
A=0.197368/60 (FINRISK)
A=0.215848/967 (Estonian)
A=0.225/9 (GENOME_DK)
A=0.2397/128 (MGP)
C=0.45082/55 (SGDP_PRJ)
C=0.5/8 (Siberian)
HGVS:: NC_000020.11:g.2655572C>A, NC_000020.11:g.2655572C>G, NC_000020.10:g.2636218C>A, NC_000020.10:g.2636218C>G, NG_032136.1:g.8041C>A, NG_032136.1:g.8041C>G

Select item 7428438.

rs742843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:2655381 (GRCh38)
20:2636027 (GRCh37)
Canonical SPDI:: NC_000020.11:2655380:C:T
Gene:: NOP56 (Varview), SNORD57 (Varview), SNORD56 (Varview), SNORA51 (Varview), SNORD86 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000344/67 (ALFA)
T=0./0 (HapMap)
T=0.000128/18 (GnomAD)
T=0.000198/24 (ExAC)
T=0.000208/55 (TOPMED)
T=0.000231/3 (GoESP)
T=0.000274/69 (GnomAD_exomes)
T=0.000312/2 (1000Genomes)
T=0.000318/25 (PAGE_STUDY)
T=0.027778/6 (Qatari)
HGVS:: NC_000020.11:g.2655381C>T, NC_000020.10:g.2636027C>T, NG_032136.1:g.7850C>T, NM_006392.4:c.626C>T, NM_006392.3:c.626C>T, NR_027700.3:n.655C>T, NR_027700.2:n.755C>T, NR_145428.2:n.655C>T, NR_145428.1:n.755C>T, NP_006383.2:p.Thr209Ile

Select item 38180609.

rs3818060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 20:2654366 (GRCh38)
20:2635012 (GRCh37)
Canonical SPDI:: NC_000020.11:2654365:T:A,NC_000020.11:2654365:T:G
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.050633/1599 (ALFA)
G=0./0 (PRJEB36033)
G=0.064815/14 (Qatari)
G=0.065543/35 (MGP)
G=0.067462/260 (ALSPAC)
G=0.069891/909 (GoESP)
G=0.073146/73 (GoNL)
G=0.075/3 (GENOME_DK)
G=0.076052/282 (TWINSUK)
G=0.0808/21387 (TOPMED)
G=0.085491/383 (Estonian)
G=0.101667/61 (NorthernSweden)
G=0.10538/12759 (ExAC)
G=0.118676/594 (1000Genomes)
G=0.119577/226 (HapMap)
G=0.216346/45 (Vietnamese)
G=0.234376/3928 (TOMMO)
G=0.250546/459 (Korea1K)
G=0.266894/782 (KOREAN)
T=0.416667/10 (Siberian)
T=0.463235/63 (SGDP_PRJ)
HGVS:: NC_000020.11:g.2654366T>A, NC_000020.11:g.2654366T>G, NC_000020.10:g.2635012T>A, NC_000020.10:g.2635012T>G, NG_032136.1:g.6835T>A, NG_032136.1:g.6835T>G

Select item 603724410.

rs6037244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:2654981 (GRCh38)
20:2635627 (GRCh37)
Canonical SPDI:: NC_000020.11:2654980:C:T
Gene:: NOP56 (Varview), SNORD57 (Varview), SNORD56 (Varview), SNORA51 (Varview), SNORD86 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2654981C>T, NC_000020.10:g.2635627C>T, NG_032136.1:g.7450C>T

Select item 603724511.

rs6037245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:2655150 (GRCh38)
20:2635796 (GRCh37)
Canonical SPDI:: NC_000020.11:2655149:C:T
Gene:: NOP56 (Varview), SNORD57 (Varview), SNORD56 (Varview), SNORA51 (Varview), SNORD86 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.2655150C>T, NC_000020.10:g.2635796C>T, NG_032136.1:g.7619C>T, NR_002981.1:n.84C>T

Select item 605091112.

rs6050911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:2653521 (GRCh38)
20:2634167 (GRCh37)
Canonical SPDI:: NC_000020.11:2653520:C:A
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.29328/9829 (ALFA)
A=0.17603/94 (MGP)
A=0.236473/236 (GoNL)
A=0.236637/912 (ALSPAC)
A=0.245415/910 (TWINSUK)
A=0.251539/4216 (TOMMO)
A=0.261682/56 (Vietnamese)
A=0.268519/58 (Qatari)
A=0.274017/502 (Korea1K)
A=0.275/11 (GENOME_DK)
A=0.281667/169 (NorthernSweden)
A=0.28683/1285 (Estonian)
A=0.298976/876 (KOREAN)
A=0.321696/45051 (GnomAD)
A=0.333322/88227 (TOPMED)
A=0.340881/1707 (1000Genomes)
C=0.34375/11 (Siberian)
C=0.381757/113 (SGDP_PRJ)
HGVS:: NC_000020.11:g.2653521C>A, NC_000020.10:g.2634167C>A, NG_032136.1:g.5990C>A

Select item 605091213.

rs6050912 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:2653667 (GRCh38)
20:2634313 (GRCh37)
Canonical SPDI:: NC_000020.11:2653666:A:T
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.2653667A>T, NC_000020.10:g.2634313A>T, NG_032136.1:g.6136A>T

Select item 605091514.

rs6050915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:2654675 (GRCh38)
20:2635321 (GRCh37)
Canonical SPDI:: NC_000020.11:2654674:G:A
Gene:: NOP56 (Varview), SNORD56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000020.11:g.2654675G>A, NC_000020.10:g.2635321G>A, NG_032136.1:g.7144G>A

Select item 605091615.

rs6050916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:2655067 (GRCh38)
20:2635713 (GRCh37)
Canonical SPDI:: NC_000020.11:2655066:G:A
Gene:: NOP56 (Varview), SNORD57 (Varview), SNORD56 (Varview), SNORA51 (Varview), SNORD86 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.2655067G>A, NC_000020.10:g.2635713G>A, NG_032136.1:g.7536G>A, NR_002981.1:n.1G>A

Select item 1155360516.

rs11553605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:2655437 (GRCh38)
20:2636083 (GRCh37)
Canonical SPDI:: NC_000020.11:2655436:C:T
Gene:: NOP56 (Varview), SNORD57 (Varview), SNORD56 (Varview), SNORA51 (Varview), SNORD86 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.2655437C>T, NC_000020.10:g.2636083C>T, NG_032136.1:g.7906C>T, NM_006392.4:c.682C>T, NM_006392.3:c.682C>T, NR_027700.3:n.711C>T, NR_027700.2:n.811C>T, NR_145428.2:n.711C>T, NR_145428.1:n.811C>T

Select item 1155360817.

rs11553608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:2654790 (GRCh38)
20:2635436 (GRCh37)
Canonical SPDI:: NC_000020.11:2654789:G:A,NC_000020.11:2654789:G:C
Gene:: NOP56 (Varview), SNORD56 (Varview), SNORA51 (Varview), SNORD86 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000016/2 (ExAC)
A=0.000077/1 (GoESP)
HGVS:: NC_000020.11:g.2654790G>A, NC_000020.11:g.2654790G>C, NC_000020.10:g.2635436G>A, NC_000020.10:g.2635436G>C, NG_032136.1:g.7259G>A, NG_032136.1:g.7259G>C, NM_006392.4:c.412G>A, NM_006392.4:c.412G>C, NM_006392.3:c.412G>A, NM_006392.3:c.412G>C, NR_027700.3:n.441G>A, NR_027700.3:n.441G>C, NR_027700.2:n.541G>A, NR_027700.2:n.541G>C, NR_145428.2:n.441G>A, NR_145428.2:n.441G>C, NR_145428.1:n.541G>A, NR_145428.1:n.541G>C, NP_006383.2:p.Asp138Asn, NP_006383.2:p.Asp138His

Select item 1155360918.

rs11553609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:2654560 (GRCh38)
20:2635206 (GRCh37)
Canonical SPDI:: NC_000020.11:2654559:G:A
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.2654560G>A, NC_000020.10:g.2635206G>A, NG_032136.1:g.7029G>A, NM_006392.4:c.355G>A, NM_006392.3:c.355G>A, NR_027700.3:n.384G>A, NR_027700.2:n.484G>A, NR_145428.2:n.384G>A, NR_145428.1:n.484G>A, NP_006383.2:p.Ala119Thr

Select item 1190568119.

rs11905681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:2653599 (GRCh38)
20:2634245 (GRCh37)
Canonical SPDI:: NC_000020.11:2653598:C:T
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.022469/324 (ALFA)
T=0./0 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.009259/2 (Qatari)
T=0.030302/4249 (GnomAD)
T=0.030762/154 (1000Genomes)
T=0.032309/8552 (TOPMED)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000020.11:g.2653599C>T, NC_000020.10:g.2634245C>T, NG_032136.1:g.6068C>T

Select item 3445012020.

rs34450120 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:2654858 (GRCh38)
20:2635504 (GRCh37)
Canonical SPDI:: NC_000020.11:2654857:T:C
Gene:: NOP56 (Varview), SNORD56 (Varview), SNORA51 (Varview), SNORD86 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.004674/232 (ALFA)
C=0.000446/2 (Estonian)
C=0.000778/3 (ALSPAC)
C=0.001888/7 (TWINSUK)
C=0.007937/1996 (GnomAD_exomes)
C=0.0093/1129 (ExAC)
C=0.013378/174 (GoESP)
C=0.013532/1898 (GnomAD)
C=0.014368/3803 (TOPMED)
C=0.023111/116 (1000Genomes)
C=0.050926/11 (Qatari)
T=0.5/1 (Siberian)
T=0.5/15 (SGDP_PRJ)
HGVS:: NC_000020.11:g.2654858T>C, NC_000020.10:g.2635504T>C, NG_032136.1:g.7327T>C, NM_006392.4:c.480T>C, NM_006392.3:c.480T>C, NR_027700.3:n.509T>C, NR_027700.2:n.609T>C, NR_145428.2:n.509T>C, NR_145428.1:n.609T>C

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