SNP Links for Gene (Select 692213) - SNP

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Items: 1 to 20 of 833

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Select item 14907804621.

rs1490780462 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 20:2653007 (GRCh38)
20:2633653 (GRCh37)
Canonical SPDI:: NC_000020.11:2653006:CCC:CC
Gene:: NOP56 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.2653009del, NC_000020.10:g.2633655del, NG_032136.1:g.5478del

Select item 14902892362.

rs1490289236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:2652746 (GRCh38)
20:2633392 (GRCh37)
Canonical SPDI:: NC_000020.11:2652745:G:C
Gene:: NOP56 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.2652746G>C, NC_000020.10:g.2633392G>C, NG_032136.1:g.5215G>C, NG_052631.1:g.114G>C

Select item 14895462183.

rs1489546218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:2653131 (GRCh38)
20:2633777 (GRCh37)
Canonical SPDI:: NC_000020.11:2653130:C:A,NC_000020.11:2653130:C:T
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.2653131C>A, NC_000020.11:g.2653131C>T, NC_000020.10:g.2633777C>A, NC_000020.10:g.2633777C>T, NG_032136.1:g.5600C>A, NG_032136.1:g.5600C>T

Select item 14894377164.

rs1489437716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:2653937 (GRCh38)
20:2634583 (GRCh37)
Canonical SPDI:: NC_000020.11:2653936:G:A
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2653937G>A, NC_000020.10:g.2634583G>A, NG_032136.1:g.6406G>A

Select item 14893021515.

rs1489302151 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:2652888 (GRCh38)
20:2633534 (GRCh37)
Canonical SPDI:: NC_000020.11:2652887:T:G
Gene:: NOP56 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2652888T>G, NC_000020.10:g.2633534T>G, NG_032136.1:g.5357T>G, NM_006392.4:c.50T>G, NM_006392.3:c.50T>G, NR_027700.3:n.79T>G, NR_027700.2:n.179T>G, NR_145428.2:n.79T>G, NR_145428.1:n.179T>G, NP_006383.2:p.Leu17Arg

Select item 14889433756.

rs1488943375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:2652934 (GRCh38)
20:2633580 (GRCh37)
Canonical SPDI:: NC_000020.11:2652933:G:A
Gene:: NOP56 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.2652934G>A, NC_000020.10:g.2633580G>A, NG_032136.1:g.5403G>A

Select item 14883194487.

rs1488319448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:2653313 (GRCh38)
20:2633959 (GRCh37)
Canonical SPDI:: NC_000020.11:2653312:A:G
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2653313A>G, NC_000020.10:g.2633959A>G, NG_032136.1:g.5782A>G, NM_006392.4:c.128A>G, NM_006392.3:c.128A>G, NR_027700.3:n.157A>G, NR_027700.2:n.257A>G, NR_145428.2:n.157A>G, NR_145428.1:n.257A>G, NP_006383.2:p.His43Arg

Select item 14882084518.

rs1488208451 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:2654092 (GRCh38)
20:2634738 (GRCh37)
Canonical SPDI:: NC_000020.11:2654091:A:C
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.2654092A>C, NC_000020.10:g.2634738A>C, NG_032136.1:g.6561A>C

Select item 14876607229.

rs1487660722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:2652664 (GRCh38)
20:2633310 (GRCh37)
Canonical SPDI:: NC_000020.11:2652663:G:A
Gene:: NOP56 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: splice_donor_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.2652664G>A, NC_000020.10:g.2633310G>A, NG_032136.1:g.5133G>A, NG_052631.1:g.32G>A

Select item 148644062610.

rs1486440626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 20:2652637 (GRCh38)
20:2633283 (GRCh37)
Canonical SPDI:: NC_000020.11:2652636:G:A,NC_000020.11:2652636:G:C,NC_000020.11:2652636:G:T
Gene:: NOP56 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000071/1 (TOMMO)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.2652637G>A, NC_000020.11:g.2652637G>C, NC_000020.11:g.2652637G>T, NC_000020.10:g.2633283G>A, NC_000020.10:g.2633283G>C, NC_000020.10:g.2633283G>T, NG_032136.1:g.5106G>A, NG_032136.1:g.5106G>C, NG_032136.1:g.5106G>T, NM_006392.4:c.-24G>A, NM_006392.4:c.-24G>C, NM_006392.4:c.-24G>T, NM_006392.3:c.-24G>A, NM_006392.3:c.-24G>C, NM_006392.3:c.-24G>T, NR_027700.3:n.6G>A, NR_027700.3:n.6G>C, NR_027700.3:n.6G>T, NR_027700.2:n.106G>A, NR_027700.2:n.106G>C, NR_027700.2:n.106G>T, NR_145428.2:n.6G>A, NR_145428.2:n.6G>C, NR_145428.2:n.6G>T, NR_145428.1:n.106G>A, NR_145428.1:n.106G>C, NR_145428.1:n.106G>T, NG_052631.1:g.5G>A, NG_052631.1:g.5G>C, NG_052631.1:g.5G>T

Select item 148343493911.

rs1483434939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:2652224 (GRCh38)
20:2632870 (GRCh37)
Canonical SPDI:: NC_000020.11:2652223:C:T
Gene:: NOP56 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000020.11:g.2652224C>T, NC_000020.10:g.2632870C>T, NG_032136.1:g.4693C>T

Select item 148084883512.

rs1480848835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:2652892 (GRCh38)
20:2633538 (GRCh37)
Canonical SPDI:: NC_000020.11:2652891:G:A
Gene:: NOP56 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.2652892G>A, NC_000020.10:g.2633538G>A, NG_032136.1:g.5361G>A, NM_006392.4:c.54G>A, NM_006392.3:c.54G>A, NR_027700.3:n.83G>A, NR_027700.2:n.183G>A, NR_145428.2:n.83G>A, NR_145428.1:n.183G>A

Select item 147994574213.

rs1479945742 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:2653232 (GRCh38)
20:2633878 (GRCh37)
Canonical SPDI:: NC_000020.11:2653231:A:T
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000020.11:g.2653232A>T, NC_000020.10:g.2633878A>T, NG_032136.1:g.5701A>T

Select item 147980398814.

rs1479803988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:2652415 (GRCh38)
20:2633061 (GRCh37)
Canonical SPDI:: NC_000020.11:2652414:C:G,NC_000020.11:2652414:C:T
Gene:: NOP56 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.000343/1 (KOREAN)
HGVS:: NC_000020.11:g.2652415C>G, NC_000020.11:g.2652415C>T, NC_000020.10:g.2633061C>G, NC_000020.10:g.2633061C>T, NG_032136.1:g.4884C>G, NG_032136.1:g.4884C>T, XR_007067502.1:n.50G>C, XR_007067502.1:n.50G>A

Select item 147863245015.

rs1478632450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:2652456 (GRCh38)
20:2633102 (GRCh37)
Canonical SPDI:: NC_000020.11:2652455:C:A,NC_000020.11:2652455:C:T
Gene:: NOP56 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000038/10 (TOPMED)
A=0.000142/2 (TOMMO)
HGVS:: NC_000020.11:g.2652456C>A, NC_000020.11:g.2652456C>T, NC_000020.10:g.2633102C>A, NC_000020.10:g.2633102C>T, NG_032136.1:g.4925C>A, NG_032136.1:g.4925C>T, XR_007067502.1:n.9G>T, XR_007067502.1:n.9G>A

Select item 147813153916.

rs1478131539 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:2653745 (GRCh38)
20:2634391 (GRCh37)
Canonical SPDI:: NC_000020.11:2653744:T:C
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2653745T>C, NC_000020.10:g.2634391T>C, NG_032136.1:g.6214T>C

Select item 147724211617.

rs1477242116 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:2652346 (GRCh38)
20:2632992 (GRCh37)
Canonical SPDI:: NC_000020.11:2652345:A:G
Gene:: NOP56 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.2652346A>G, NC_000020.10:g.2632992A>G, NG_032136.1:g.4815A>G

Select item 147685916318.

rs1476859163 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:2653855 (GRCh38)
20:2634501 (GRCh37)
Canonical SPDI:: NC_000020.11:2653854:A:G
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.2653855A>G, NC_000020.10:g.2634501A>G, NG_032136.1:g.6324A>G

Select item 147514379819.

rs1475143798 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGGCG [Show Flanks]
Chromosome:: 20:2652574 (GRCh38)
20:2633221 (GRCh37)
Canonical SPDI:: NC_000020.11:2652574:GGGGGCGGGGGCG:GGGGGCGGGGGCGGGGGCG
Gene:: NOP56 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGCGGGGGCGGGGGCG=0.002613/31 (ALFA)
GGGGGC=0.000035/1 (TOMMO)
GGGGGC=0.00203/13 (1000Genomes)
GGGGGC=0.003331/467 (GnomAD)
HGVS:: NC_000020.11:g.2652576GGGGCG[3], NC_000020.10:g.2633222GGGGCG[3], NG_032136.1:g.5045GGGGCG[3], NM_006392.3:c.-85GGGGCG[3], NR_027700.2:n.45GGGGCG[3], NR_145428.1:n.45GGGGCG[3]

Select item 147184158220.

rs1471841582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:2652782 (GRCh38)
20:2633428 (GRCh37)
Canonical SPDI:: NC_000020.11:2652781:G:T
Gene:: NOP56 (Varview), SNORD110 (Varview), MIR1292 (Varview), LOC105372505 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000020.11:g.2652782G>T, NC_000020.10:g.2633428G>T, NG_032136.1:g.5251G>T, NG_052631.1:g.150G>T, NR_031699.1:n.6G>T

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