SNP Links for Nucleotide (Select 98162773) - SNP

Links from Nucleotide

Items: 1 to 20 of 33

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Select item 14676871501.

rs1467687150 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:2654270 (GRCh38)
20:2634916 (GRCh37)
Canonical SPDI:: NC_000020.11:2654269:T:A
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.2654270T>A, NC_000020.10:g.2634916T>A, NG_032136.1:g.6739T>A, NR_003078.1:n.59T>A

Select item 14590631172.

rs1459063117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:2654234 (GRCh38)
20:2634880 (GRCh37)
Canonical SPDI:: NC_000020.11:2654233:A:C
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.2654234A>C, NC_000020.10:g.2634880A>C, NG_032136.1:g.6703A>C, NR_003078.1:n.23A>C

Select item 14360755783.

rs1436075578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:2654246 (GRCh38)
20:2634892 (GRCh37)
Canonical SPDI:: NC_000020.11:2654245:C:G,NC_000020.11:2654245:C:T
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2654246C>G, NC_000020.11:g.2654246C>T, NC_000020.10:g.2634892C>G, NC_000020.10:g.2634892C>T, NG_032136.1:g.6715C>G, NG_032136.1:g.6715C>T, NR_003078.1:n.35C>G, NR_003078.1:n.35C>T

Select item 14162444034.

rs1416244403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:2654256 (GRCh38)
20:2634902 (GRCh37)
Canonical SPDI:: NC_000020.11:2654255:C:G
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.2654256C>G, NC_000020.10:g.2634902C>G, NG_032136.1:g.6725C>G, NR_003078.1:n.45C>G

Select item 14037634755.

rs1403763475 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:2654258 (GRCh38)
20:2634904 (GRCh37)
Canonical SPDI:: NC_000020.11:2654257:A:G
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000017/4 (GnomAD_exomes)
HGVS:: NC_000020.11:g.2654258A>G, NC_000020.10:g.2634904A>G, NG_032136.1:g.6727A>G, NR_003078.1:n.47A>G

Select item 13935089716.

rs1393508971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:2654220 (GRCh38)
20:2634866 (GRCh37)
Canonical SPDI:: NC_000020.11:2654219:A:C
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_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.2654220A>C, NC_000020.10:g.2634866A>C, NG_032136.1:g.6689A>C, NR_003078.1:n.9A>C

Select item 13739764367.

rs1373976436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:2654279 (GRCh38)
20:2634925 (GRCh37)
Canonical SPDI:: NC_000020.11:2654278:C:G
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.2654279C>G, NC_000020.10:g.2634925C>G, NG_032136.1:g.6748C>G, NR_003078.1:n.68C>G

Select item 13550819558.

rs1355081955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:2654222 (GRCh38)
20:2634868 (GRCh37)
Canonical SPDI:: NC_000020.11:2654221:G:A
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2654222G>A, NC_000020.10:g.2634868G>A, NG_032136.1:g.6691G>A, NR_003078.1:n.11G>A

Select item 12853907579.

rs1285390757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:2654277 (GRCh38)
20:2634923 (GRCh37)
Canonical SPDI:: NC_000020.11:2654276:C:G,NC_000020.11:2654276:C:T
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.2654277C>G, NC_000020.11:g.2654277C>T, NC_000020.10:g.2634923C>G, NC_000020.10:g.2634923C>T, NG_032136.1:g.6746C>G, NG_032136.1:g.6746C>T, NR_003078.1:n.66C>G, NR_003078.1:n.66C>T

Select item 127778162910.

rs1277781629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:2654254 (GRCh38)
20:2634900 (GRCh37)
Canonical SPDI:: NC_000020.11:2654253:T:C
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2654254T>C, NC_000020.10:g.2634900T>C, NG_032136.1:g.6723T>C, NR_003078.1:n.43T>C

Select item 127445456711.

rs1274454567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:2654241 (GRCh38)
20:2634887 (GRCh37)
Canonical SPDI:: NC_000020.11:2654240:T:C
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.2654241T>C, NC_000020.10:g.2634887T>C, NG_032136.1:g.6710T>C, NR_003078.1:n.30T>C

Select item 124180323812.

rs1241803238 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:2654259 (GRCh38)
20:2634905 (GRCh37)
Canonical SPDI:: NC_000020.11:2654258:T:A
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_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.2654259T>A, NC_000020.10:g.2634905T>A, NG_032136.1:g.6728T>A, NR_003078.1:n.48T>A

Select item 104953576313.

rs1049535763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:2654214 (GRCh38)
20:2634860 (GRCh37)
Canonical SPDI:: NC_000020.11:2654213:G:T
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000020.11:g.2654214G>T, NC_000020.10:g.2634860G>T, NG_032136.1:g.6683G>T, NR_003078.1:n.3G>T

Select item 104583348414.

rs1045833484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:2654248 (GRCh38)
20:2634894 (GRCh37)
Canonical SPDI:: NC_000020.11:2654247:C:G,NC_000020.11:2654247:C:T
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.2654248C>G, NC_000020.11:g.2654248C>T, NC_000020.10:g.2634894C>G, NC_000020.10:g.2634894C>T, NG_032136.1:g.6717C>G, NG_032136.1:g.6717C>T, NR_003078.1:n.37C>G, NR_003078.1:n.37C>T

Select item 94582704615.

rs945827046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 20:2654265 (GRCh38)
20:2634911 (GRCh37)
Canonical SPDI:: NC_000020.11:2654264:A:G,NC_000020.11:2654264:A:T
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.2654265A>G, NC_000020.11:g.2654265A>T, NC_000020.10:g.2634911A>G, NC_000020.10:g.2634911A>T, NG_032136.1:g.6734A>G, NG_032136.1:g.6734A>T, NR_003078.1:n.54A>G, NR_003078.1:n.54A>T

Select item 93088904616.

rs930889046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:2654212 (GRCh38)
20:2634858 (GRCh37)
Canonical SPDI:: NC_000020.11:2654211:T:A
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000042/11 (TOPMED)
HGVS:: NC_000020.11:g.2654212T>A, NC_000020.10:g.2634858T>A, NG_032136.1:g.6681T>A, NR_003078.1:n.1T>A

Select item 78110643417.

rs781106434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:2654274 (GRCh38)
20:2634920 (GRCh37)
Canonical SPDI:: NC_000020.11:2654273:T:C
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000009/1 (ExAC)
HGVS:: NC_000020.11:g.2654274T>C, NC_000020.10:g.2634920T>C, NG_032136.1:g.6743T>C, NR_003078.1:n.63T>C

Select item 77907681318.

rs779076813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:2654286 (GRCh38)
20:2634932 (GRCh37)
Canonical SPDI:: NC_000020.11:2654285:A:G
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000017/2 (ExAC)
G=0.000038/10 (TOPMED)
HGVS:: NC_000020.11:g.2654286A>G, NC_000020.10:g.2634932A>G, NG_032136.1:g.6755A>G, NR_003078.1:n.75A>G

Select item 77115665819.

rs771156658 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:2654249 (GRCh38)
20:2634895 (GRCh37)
Canonical SPDI:: NC_000020.11:2654248:CT:
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000059/14 (GnomAD_exomes)
-=0.000096/11 (ExAC)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.2654249_2654250del, NC_000020.10:g.2634895_2634896del, NG_032136.1:g.6718_6719del, NR_003078.1:n.38_39del

Select item 76382984520.

rs763829845 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:2654266 (GRCh38)
20:2634912 (GRCh37)
Canonical SPDI:: NC_000020.11:2654265:T:A
Gene:: NOP56 (Varview), SNORA51 (Varview), SNORD86 (Varview), SNORD110 (Varview), LOC105372505 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000009/1 (ExAC)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.2654266T>A, NC_000020.10:g.2634912T>A, NG_032136.1:g.6735T>A, NR_003078.1:n.55T>A

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