SNP Links for Gene (Select 100033424) - SNP

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Links from Gene

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Select item 14909728981.

rs1490972898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:25076234 (GRCh38)
15:25321381 (GRCh37)
Canonical SPDI:: NC_000015.10:25076233:G:T
Gene:: SNORD116-11 (Varview), SNORD116-12 (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:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25076234G>T, NC_000015.9:g.25321381G>T, NG_002690.1:g.295325G>T

Select item 14903692412.

rs1490369241 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:25075385 (GRCh38)
15:25320533 (GRCh37)
Canonical SPDI:: NC_000015.10:25075385:AA:AAA
Gene:: SNORD116-11 (Varview), SNORD116-12 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25075387dup, NC_000015.9:g.25320534dup, NG_002690.1:g.294478dup

Select item 14900356383.

rs1490035638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:25076216 (GRCh38)
15:25321363 (GRCh37)
Canonical SPDI:: NC_000015.10:25076215:C:G,NC_000015.10:25076215:C:T
Gene:: SNORD116-11 (Varview), SNORD116-12 (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:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25076216C>G, NC_000015.10:g.25076216C>T, NC_000015.9:g.25321363C>G, NC_000015.9:g.25321363C>T, NG_002690.1:g.295307C>G, NG_002690.1:g.295307C>T

Select item 14898199404.

rs1489819940 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:25076631 (GRCh38)
15:25321778 (GRCh37)
Canonical SPDI:: NC_000015.10:25076630:A:C
Gene:: SNORD116-12 (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.25076631A>C, NC_000015.9:g.25321778A>C, NG_002690.1:g.295722A>C

Select item 14891317955.

rs1489131795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25075881 (GRCh38)
15:25321028 (GRCh37)
Canonical SPDI:: NC_000015.10:25075880:T:C
Gene:: SNORD116-11 (Varview), SNORD116-12 (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 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25075881T>C, NC_000015.9:g.25321028T>C, NG_002690.1:g.294972T>C

Select item 14890719316.

rs1489071931 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25076048 (GRCh38)
15:25321195 (GRCh37)
Canonical SPDI:: NC_000015.10:25076047:A:G
Gene:: SNORD116-11 (Varview), SNORD116-12 (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:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.25076048A>G, NC_000015.9:g.25321195A>G, NG_002690.1:g.295139A>G

Select item 14879252357.

rs1487925235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25075252 (GRCh38)
15:25320399 (GRCh37)
Canonical SPDI:: NC_000015.10:25075251:A:G
Gene:: SNORD116-11 (Varview), SNORD116-12 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.25075252A>G, NC_000015.9:g.25320399A>G, NG_002690.1:g.294343A>G

Select item 14836315178.

rs1483631517 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:25077019 (GRCh38)
15:25322166 (GRCh37)
Canonical SPDI:: NC_000015.10:25077018:T:A
Gene:: SNORD116-12 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.25077019T>A, NC_000015.9:g.25322166T>A, NG_002690.1:g.296110T>A

Select item 14821484289.

rs1482148428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25075596 (GRCh38)
15:25320743 (GRCh37)
Canonical SPDI:: NC_000015.10:25075595:A:G
Gene:: SNORD116-11 (Varview), SNORD116-12 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25075596A>G, NC_000015.9:g.25320743A>G, NG_002690.1:g.294687A>G

Select item 148160996610.

rs1481609966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25076555 (GRCh38)
15:25321702 (GRCh37)
Canonical SPDI:: NC_000015.10:25076554:G:A
Gene:: SNORD116-12 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25076555G>A, NC_000015.9:g.25321702G>A, NG_002690.1:g.295646G>A

Select item 147987901511.

rs1479879015 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATC>- [Show Flanks]
Chromosome:: 15:25076315 (GRCh38)
15:25321462 (GRCh37)
Canonical SPDI:: NC_000015.10:25076309:TCATCATC:TCATC
Gene:: SNORD116-11 (Varview), SNORD116-12 (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:: TCATC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.25076312ATC[1], NC_000015.9:g.25321459ATC[1], NG_002690.1:g.295403ATC[1]

Select item 147942951912.

rs1479429519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:25076100 (GRCh38)
15:25321247 (GRCh37)
Canonical SPDI:: NC_000015.10:25076099:A:C
Gene:: SNORD116-11 (Varview), SNORD116-12 (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=0.000142/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.25076100A>C, NC_000015.9:g.25321247A>C, NG_002690.1:g.295191A>C

Select item 147890256013.

rs1478902560 [Homo sapiens]

Variant type:: DEL
Alleles:: CTG>- [Show Flanks]
Chromosome:: 15:25076881 (GRCh38)
15:25322028 (GRCh37)
Canonical SPDI:: NC_000015.10:25076880:CTG:
Gene:: SNORD116-12 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.25076881_25076883del, NC_000015.9:g.25322028_25322030del, NG_002690.1:g.295972_295974del, NR_146177.1:n.6641_6643del

Select item 147773431714.

rs1477734317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25076060 (GRCh38)
15:25321207 (GRCh37)
Canonical SPDI:: NC_000015.10:25076059:C:T
Gene:: SNORD116-11 (Varview), SNORD116-12 (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:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25076060C>T, NC_000015.9:g.25321207C>T, NG_002690.1:g.295151C>T

Select item 147695976015.

rs1476959760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25077608 (GRCh38)
15:25322755 (GRCh37)
Canonical SPDI:: NC_000015.10:25077607:G:A
Gene:: SNORD116-12 (Varview), SNORD116-13 (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=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.25077608G>A, NC_000015.9:g.25322755G>A, NG_002690.1:g.296699G>A

Select item 147610808016.

rs1476108080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25075579 (GRCh38)
15:25320726 (GRCh37)
Canonical SPDI:: NC_000015.10:25075578:C:T
Gene:: SNORD116-11 (Varview), SNORD116-12 (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=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25075579C>T, NC_000015.9:g.25320726C>T, NG_002690.1:g.294670C>T

Select item 147392515617.

rs1473925156 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:25076522 (GRCh38)
15:25321669 (GRCh37)
Canonical SPDI:: NC_000015.10:25076521:A:T
Gene:: SNORD116-11 (Varview), SNORD116-12 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000015.10:g.25076522A>T, NC_000015.9:g.25321669A>T, NG_002690.1:g.295613A>T

Select item 147325740718.

rs1473257407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25076598 (GRCh38)
15:25321745 (GRCh37)
Canonical SPDI:: NC_000015.10:25076597:A:G
Gene:: SNORD116-12 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.25076598A>G, NC_000015.9:g.25321745A>G, NG_002690.1:g.295689A>G

Select item 147158138519.

rs1471581385 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:25077073 (GRCh38)
15:25322220 (GRCh37)
Canonical SPDI:: NC_000015.10:25077072:A:T
Gene:: SNORD116-12 (Varview), SNORD116-13 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25077073A>T, NC_000015.9:g.25322220A>T, NG_002690.1:g.296164A>T, NR_003327.2:n.24A>T

Select item 147128874520.

rs1471288745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:25075773 (GRCh38)
15:25320920 (GRCh37)
Canonical SPDI:: NC_000015.10:25075772:G:T
Gene:: SNORD116-11 (Varview), SNORD116-12 (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)
HGVS:: NC_000015.10:g.25075773G>T, NC_000015.9:g.25320920G>T, NG_002690.1:g.294864G>T, NR_146177.1:n.6523G>T