SNP Links for Gene (Select 100033428) - SNP

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Select item 14907332971.

rs1490733297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25082537 (GRCh38)
15:25327684 (GRCh37)
Canonical SPDI:: NC_000015.10:25082536:T:C
Gene:: SNORD116-16 (Varview), SNORD116-17 (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=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.25082537T>C, NC_000015.9:g.25327684T>C, NG_002690.1:g.301628T>C

Select item 14905946612.

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 14905714753.

rs1490571475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:25082130 (GRCh38)
15:25327277 (GRCh37)
Canonical SPDI:: NC_000015.10:25082129:G:T
Gene:: SNORD116-16 (Varview), SNORD116-17 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.25082130G>T, NC_000015.9:g.25327277G>T, NG_002690.1:g.301221G>T

Select item 14894046374.

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 14868166965.

rs1486816696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25083074 (GRCh38)
15:25328221 (GRCh37)
Canonical SPDI:: NC_000015.10:25083073:G:A
Gene:: 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./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.25083074G>A, NC_000015.9:g.25328221G>A, NG_002690.1:g.302165G>A

Select item 14851403266.

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 14820129147.

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 14818711848.

rs1481871184 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 15:25082682 (GRCh38)
15:25327829 (GRCh37)
Canonical SPDI:: NC_000015.10:25082677:TGTGTG:TGTG
Gene:: SNORD116-16 (Varview), SNORD116-17 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000079/21 (TOPMED)
HGVS:: NC_000015.10:g.25082678TG[2], NC_000015.9:g.25327825TG[2], NG_002690.1:g.301769TG[2], NR_146177.1:n.7108TG[2]

Select item 14808756859.

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 148002826110.

rs1480028261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25082741 (GRCh38)
15:25327888 (GRCh37)
Canonical SPDI:: NC_000015.10:25082740:T:C
Gene:: SNORD116-16 (Varview), SNORD116-17 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25082741T>C, NC_000015.9:g.25327888T>C, NG_002690.1:g.301832T>C

Select item 147672423911.

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 147602102412.

rs1476021024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:25082812 (GRCh38)
15:25327959 (GRCh37)
Canonical SPDI:: NC_000015.10:25082811:C:G
Gene:: SNORD116-16 (Varview), SNORD116-17 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25082812C>G, NC_000015.9:g.25327959C>G, NG_002690.1:g.301903C>G, NR_003331.2:n.46C>G

Select item 147191430513.

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 147186415514.

rs1471864155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:25082420 (GRCh38)
15:25327567 (GRCh37)
Canonical SPDI:: NC_000015.10:25082419:G:T
Gene:: SNORD116-16 (Varview), SNORD116-17 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.25082420G>T, NC_000015.9:g.25327567G>T, NG_002690.1:g.301511G>T

Select item 147084551815.

rs1470845518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:25082699 (GRCh38)
15:25327846 (GRCh37)
Canonical SPDI:: NC_000015.10:25082698:G:T
Gene:: SNORD116-16 (Varview), SNORD116-17 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_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.25082699G>T, NC_000015.9:g.25327846G>T, NG_002690.1:g.301790G>T, NR_146177.1:n.7129G>T

Select item 147052259916.

rs1470522599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:25082296 (GRCh38)
15:25327443 (GRCh37)
Canonical SPDI:: NC_000015.10:25082295:C:G,NC_000015.10:25082295:C:T
Gene:: SNORD116-16 (Varview), SNORD116-17 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000015.10:g.25082296C>G, NC_000015.10:g.25082296C>T, NC_000015.9:g.25327443C>G, NC_000015.9:g.25327443C>T, NG_002690.1:g.301387C>G, NG_002690.1:g.301387C>T

Select item 147048299917.

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 147046723918.

rs1470467239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25083259 (GRCh38)
15:25328406 (GRCh37)
Canonical SPDI:: NC_000015.10:25083258:G:A
Gene:: 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./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25083259G>A, NC_000015.9:g.25328406G>A, NG_002690.1:g.302350G>A

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 146837284520.

rs1468372845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:25081398 (GRCh38)
15:25326545 (GRCh37)
Canonical SPDI:: NC_000015.10:25081397:G:A,NC_000015.10:25081397:G: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
MAF:: A=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25081398G>A, NC_000015.10:g.25081398G>T, NC_000015.9:g.25326545G>A, NC_000015.9:g.25326545G>T, NG_002690.1:g.300489G>A, NG_002690.1:g.300489G>T