SNP Links for Gene (Select 100033413) - SNP

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Select item 14914485251.

rs1491448525 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 15:25050780 (GRCh38)
15:25295927 (GRCh37)
Canonical SPDI:: NC_000015.10:25050778:CGC:C
Gene:: SNORD116-1 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.00109/2 (Korea1K)
HGVS:: NC_000015.10:g.25050780_25050781del, NC_000015.9:g.25295927_25295928del, NG_002690.1:g.269871_269872del

Select item 14892939282.

rs1489293928 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>T
Chromosome:: no mapping
Canonical SPDI:

Select item 14892055703.

rs1489205570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:25050743 (GRCh38)
15:25295890 (GRCh37)
Canonical SPDI:: NC_000015.10:25050742:C:A,NC_000015.10:25050742:C:G,NC_000015.10:25050742:C:T
Gene:: SNORD116-1 (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)
T=0.000008/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.25050743C>A, NC_000015.10:g.25050743C>G, NC_000015.10:g.25050743C>T, NC_000015.9:g.25295890C>A, NC_000015.9:g.25295890C>G, NC_000015.9:g.25295890C>T, NG_002690.1:g.269834C>A, NG_002690.1:g.269834C>G, NG_002690.1:g.269834C>T

Select item 14891442864.

rs1489144286 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:25051415 (GRCh38)
15:25296562 (GRCh37)
Canonical SPDI:: NC_000015.10:25051414:T:G
Gene:: SNORD116-1 (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=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25051415T>G, NC_000015.9:g.25296562T>G, NG_002690.1:g.270506T>G

Select item 14863901405.

rs1486390140 [Homo sapiens]

Variant type:: DEL
Alleles:: TGC>- [Show Flanks]
Chromosome:: 15:25050997 (GRCh38)
15:25296144 (GRCh37)
Canonical SPDI:: NC_000015.10:25050996:TGC:
Gene:: SNORD116-1 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.25050997_25050999del, NC_000015.9:g.25296144_25296146del, NG_002690.1:g.270088_270090del

Select item 14862792256.

rs1486279225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25051867 (GRCh38)
15:25297014 (GRCh37)
Canonical SPDI:: NC_000015.10:25051866:G:A
Gene:: SNORD116-1 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25051867G>A, NC_000015.9:g.25297014G>A, NG_002690.1:g.270958G>A

Select item 14854685937.

rs1485468593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25049892 (GRCh38)
15:25295039 (GRCh37)
Canonical SPDI:: NC_000015.10:25049891:C:T
Gene:: SNORD116-1 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.25049892C>T, NC_000015.9:g.25295039C>T, NG_002690.1:g.268983C>T

Select item 14846203238.

rs1484620323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25049964 (GRCh38)
15:25295111 (GRCh37)
Canonical SPDI:: NC_000015.10:25049963:T:C
Gene:: SNORD116-1 (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=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.25049964T>C, NC_000015.9:g.25295111T>C, NG_002690.1:g.269055T>C

Select item 14844358769.

rs1484435876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25050443 (GRCh38)
15:25295590 (GRCh37)
Canonical SPDI:: NC_000015.10:25050442:G:A
Gene:: SNORD116-1 (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=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.25050443G>A, NC_000015.9:g.25295590G>A, NG_002690.1:g.269534G>A

Select item 148305874310.

rs1483058743 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:25050833 (GRCh38)
15:25295980 (GRCh37)
Canonical SPDI:: NC_000015.10:25050832:T:A
Gene:: SNORD116-1 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00606/99 (ALFA)
A=0.00046/8 (TOMMO)
A=0.01061/31 (KOREAN)
HGVS:: NC_000015.10:g.25050833T>A, NC_000015.9:g.25295980T>A, NG_002690.1:g.269924T>A

Select item 148141219711.

rs1481412197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:25051367 (GRCh38)
15:25296514 (GRCh37)
Canonical SPDI:: NC_000015.10:25051366:C:G
Gene:: SNORD116-1 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_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_000015.10:g.25051367C>G, NC_000015.9:g.25296514C>G, NG_002690.1:g.270458C>G

Select item 148042819312.

rs1480428193 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 15:25050633 (GRCh38)
15:25295780 (GRCh37)
Canonical SPDI:: NC_000015.10:25050632:CC:C
Gene:: SNORD116-1 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000142/2 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.25050634del, NC_000015.9:g.25295781del, NG_002690.1:g.269725del

Select item 147876771913.

rs1478767719 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25050778 (GRCh38)
15:25295925 (GRCh37)
Canonical SPDI:: NC_000015.10:25050777:A:G
Gene:: SNORD116-1 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.25050778A>G, NC_000015.9:g.25295925A>G, NG_002690.1:g.269869A>G

Select item 147870634414.

rs1478706344 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 15:25051464 (GRCh38)
15:25296611 (GRCh37)
Canonical SPDI:: NC_000015.10:25051462:TGT:T
Gene:: SNORD116-1 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.25051464_25051465del, NC_000015.9:g.25296611_25296612del, NG_002690.1:g.270555_270556del

Select item 147841898615.

rs1478418986 [Homo sapiens]

Variant type:: INS
Alleles:: ->GG [Show Flanks]
Chromosome:: 15:25050737 (GRCh38)
15:25295885 (GRCh37)
Canonical SPDI:: NC_000015.10:25050737::GG
Gene:: SNORD116-1 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
GG=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25050737_25050738insGG, NC_000015.9:g.25295884_25295885insGG, NG_002690.1:g.269828_269829insGG

Select item 147776329116.

rs1477763291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25051380 (GRCh38)
15:25296527 (GRCh37)
Canonical SPDI:: NC_000015.10:25051379:C:T
Gene:: SNORD116-1 (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.25051380C>T, NC_000015.9:g.25296527C>T, NG_002690.1:g.270471C>T

Select item 147647742317.

rs1476477423 [Homo sapiens]

Variant type:: DEL
Alleles:: CAAG>- [Show Flanks]
Chromosome:: 15:25049558 (GRCh38)
15:25294705 (GRCh37)
Canonical SPDI:: NC_000015.10:25049557:CAAG:
Gene:: SNORD116-1 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25049558_25049561del, NC_000015.9:g.25294705_25294708del, NG_002690.1:g.268649_268652del

Select item 147203853918.

rs1472038539 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25051888 (GRCh38)
15:25297035 (GRCh37)
Canonical SPDI:: NC_000015.10:25051887:A:G
Gene:: SNORD116-1 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.00028/5 (TOMMO)
G=0.00034/1 (KOREAN)
HGVS:: NC_000015.10:g.25051888A>G, NC_000015.9:g.25297035A>G, NG_002690.1:g.270979A>G

Select item 146735472719.

rs1467354727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25050071 (GRCh38)
15:25295218 (GRCh37)
Canonical SPDI:: NC_000015.10:25050070:C:T
Gene:: SNORD116-1 (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.25050071C>T, NC_000015.9:g.25295218C>T, NG_002690.1:g.269162C>T

Select item 146731260220.

rs1467312602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25050827 (GRCh38)
15:25295974 (GRCh37)
Canonical SPDI:: NC_000015.10:25050826:A:G
Gene:: SNORD116-1 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25050827A>G, NC_000015.9:g.25295974A>G, NG_002690.1:g.269918A>G

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