SNP Links for Gene (Select 100033427) - SNP

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Select item 14905946611.

rs1490594661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:25081806 (GRCh38)
15:25326953 (GRCh37)
Canonical SPDI:: NC_000015.10:25081805:C:A
Gene:: SNORD116-15 (Varview), SNORD116-16 (Varview), SNORD116-17 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.25081806C>A, NC_000015.9:g.25326953C>A, NG_002690.1:g.300897C>A

Select item 14894418942.

rs1489441894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25080413 (GRCh38)
15:25325560 (GRCh37)
Canonical SPDI:: NC_000015.10:25080412:G:A
Gene:: SNORD116-14 (Varview), SNORD116-15 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.25080413G>A, NC_000015.9:g.25325560G>A, NG_002690.1:g.299504G>A

Select item 14894046373.

rs1489404637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25080794 (GRCh38)
15:25325941 (GRCh37)
Canonical SPDI:: NC_000015.10:25080793:C:T
Gene:: SNORD116-15 (Varview), SNORD116-16 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25080794C>T, NC_000015.9:g.25325941C>T, NG_002690.1:g.299885C>T

Select item 14883164094.

rs1488316409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25079960 (GRCh38)
15:25325107 (GRCh37)
Canonical SPDI:: NC_000015.10:25079959:T:C
Gene:: SNORD116-14 (Varview), SNORD116-15 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.25079960T>C, NC_000015.9:g.25325107T>C, NG_002690.1:g.299051T>C

Select item 14851403265.

rs1485140326 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25080955 (GRCh38)
15:25326102 (GRCh37)
Canonical SPDI:: NC_000015.10:25080954:T:C
Gene:: SNORD116-15 (Varview), SNORD116-16 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.25080955T>C, NC_000015.9:g.25326102T>C, NG_002690.1:g.300046T>C

Select item 14848381236.

rs1484838123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25079954 (GRCh38)
15:25325101 (GRCh37)
Canonical SPDI:: NC_000015.10:25079953:G:A
Gene:: SNORD116-14 (Varview), SNORD116-15 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.25079954G>A, NC_000015.9:g.25325101G>A, NG_002690.1:g.299045G>A

Select item 14847936527.

rs1484793652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25080544 (GRCh38)
15:25325691 (GRCh37)
Canonical SPDI:: NC_000015.10:25080543:G:A
Gene:: SNORD116-14 (Varview), SNORD116-15 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25080544G>A, NC_000015.9:g.25325691G>A, NG_002690.1:g.299635G>A

Select item 14820129148.

rs1482012914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25080960 (GRCh38)
15:25326107 (GRCh37)
Canonical SPDI:: NC_000015.10:25080959:G:A
Gene:: SNORD116-15 (Varview), SNORD116-16 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.25080960G>A, NC_000015.9:g.25326107G>A, NG_002690.1:g.300051G>A

Select item 14811994069.

rs1481199406 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAG>- [Show Flanks]
Chromosome:: 15:25080750 (GRCh38)
15:25325897 (GRCh37)
Canonical SPDI:: NC_000015.10:25080747:AGACAG:AG
Gene:: SNORD116-15 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0.000071/1 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000015.10:g.25080750_25080753del, NC_000015.9:g.25325897_25325900del, NG_002690.1:g.299841_299844del

Select item 148087568510.

rs1480875685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25081605 (GRCh38)
15:25326752 (GRCh37)
Canonical SPDI:: NC_000015.10:25081604:G:A
Gene:: SNORD116-15 (Varview), SNORD116-16 (Varview), SNORD116-17 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.25081605G>A, NC_000015.9:g.25326752G>A, NG_002690.1:g.300696G>A

Select item 148021981911.

rs1480219819 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 15:25079769 (GRCh38)
15:25324916 (GRCh37)
Canonical SPDI:: NC_000015.10:25079768:TG:
Gene:: SNORD116-14 (Varview), SNORD116-15 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000447/2 (ALFA)
-=0.000043/6 (GnomAD)
-=0.000446/2 (Estonian)
-=0.000708/12 (TOMMO)
-=0.002729/5 (Korea1K)
HGVS:: NC_000015.10:g.25079769_25079770del, NC_000015.9:g.25324916_25324917del, NG_002690.1:g.298860_298861del

Select item 147867743412.

rs1478677434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25080506 (GRCh38)
15:25325653 (GRCh37)
Canonical SPDI:: NC_000015.10:25080505:T:C
Gene:: SNORD116-14 (Varview), SNORD116-15 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.25080506T>C, NC_000015.9:g.25325653T>C, NG_002690.1:g.299597T>C

Select item 147672423913.

rs1476724239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25081359 (GRCh38)
15:25326506 (GRCh37)
Canonical SPDI:: NC_000015.10:25081358:T:C
Gene:: SNORD116-15 (Varview), SNORD116-16 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.25081359T>C, NC_000015.9:g.25326506T>C, NG_002690.1:g.300450T>C, NR_003330.2:n.74T>C

Select item 147671110514.

rs1476711105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25079663 (GRCh38)
15:25324810 (GRCh37)
Canonical SPDI:: NC_000015.10:25079662:C:T
Gene:: SNORD116-14 (Varview), SNORD116-15 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.25079663C>T, NC_000015.9:g.25324810C>T, NG_002690.1:g.298754C>T

Select item 147450234815.

rs1474502348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25079740 (GRCh38)
15:25324887 (GRCh37)
Canonical SPDI:: NC_000015.10:25079739:C:T
Gene:: SNORD116-14 (Varview), SNORD116-15 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25079740C>T, NC_000015.9:g.25324887C>T, NG_002690.1:g.298831C>T

Select item 147191430516.

rs1471914305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25081556 (GRCh38)
15:25326703 (GRCh37)
Canonical SPDI:: NC_000015.10:25081555:C:T
Gene:: SNORD116-15 (Varview), SNORD116-16 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25081556C>T, NC_000015.9:g.25326703C>T, NG_002690.1:g.300647C>T

Select item 147105483217.

rs1471054832 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 15:25079477 (GRCh38)
15:25324624 (GRCh37)
Canonical SPDI:: NC_000015.10:25079476:CC:C
Gene:: SNORD116-13 (Varview), SNORD116-14 (Varview), SNORD116-15 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.25079478del, NC_000015.9:g.25324625del, NG_002690.1:g.298569del

Select item 147048299918.

rs1470482999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:25081385 (GRCh38)
15:25326532 (GRCh37)
Canonical SPDI:: NC_000015.10:25081384:C:A,NC_000015.10:25081384:C:T
Gene:: SNORD116-15 (Varview), SNORD116-16 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.25081385C>A, NC_000015.10:g.25081385C>T, NC_000015.9:g.25326532C>A, NC_000015.9:g.25326532C>T, NG_002690.1:g.300476C>A, NG_002690.1:g.300476C>T

Select item 147032198519.

rs1470321985 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:25081495 (GRCh38)
15:25326642 (GRCh37)
Canonical SPDI:: NC_000015.10:25081494:T:C,NC_000015.10:25081494:T:G
Gene:: SNORD116-15 (Varview), SNORD116-16 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00033/5 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
G=0.000035/1 (TOMMO)
C=0.001116/5 (Estonian)
HGVS:: NC_000015.10:g.25081495T>C, NC_000015.10:g.25081495T>G, NC_000015.9:g.25326642T>C, NC_000015.9:g.25326642T>G, NG_002690.1:g.300586T>C, NG_002690.1:g.300586T>G

Select item 146877806520.

rs1468778065 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:25080248 (GRCh38)
15:25325395 (GRCh37)
Canonical SPDI:: NC_000015.10:25080247:A:T
Gene:: SNORD116-14 (Varview), SNORD116-15 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
HGVS:: NC_000015.10:g.25080248A>T, NC_000015.9:g.25325395A>T, NG_002690.1:g.299339A>T