SNP Links for Gene (Select 100033822) - SNP

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Select item 14903209791.

rs1490320979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25270296 (GRCh38)
15:25515443 (GRCh37)
Canonical SPDI:: NC_000015.10:25270295:A:G
Gene:: SNORD115-48 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.25270296A>G, NC_000015.9:g.25515443A>G, NG_002690.1:g.489387A>G

Select item 14879077682.

rs1487907768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25268947 (GRCh38)
15:25514094 (GRCh37)
Canonical SPDI:: NC_000015.10:25268946:T:C
Gene:: SNORD115-48 (Varview), SNORD115-47 (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:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.25268947T>C, NC_000015.9:g.25514094T>C, NG_002690.1:g.488038T>C

Select item 14870293183.

rs1487029318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:25269288 (GRCh38)
15:25514435 (GRCh37)
Canonical SPDI:: NC_000015.10:25269287:C:A
Gene:: SNORD115-48 (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=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25269288C>A, NC_000015.9:g.25514435C>A, NG_002690.1:g.488379C>A

Select item 14865459984.

rs1486545998 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGAC>- [Show Flanks]
Chromosome:: 15:25270274 (GRCh38)
15:25515421 (GRCh37)
Canonical SPDI:: NC_000015.10:25270269:TGACTGAC:TGAC
Gene:: SNORD115-48 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGACTGAC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.25270270TGAC[1], NC_000015.9:g.25515417TGAC[1], NG_002690.1:g.489361TGAC[1]

Select item 14861146875.

rs1486114687 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25269214 (GRCh38)
15:25514361 (GRCh37)
Canonical SPDI:: NC_000015.10:25269213:A:G
Gene:: SNORD115-48 (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=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.25269214A>G, NC_000015.9:g.25514361A>G, NG_002690.1:g.488305A>G

Select item 14832756826.

rs1483275682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25268103 (GRCh38)
15:25513250 (GRCh37)
Canonical SPDI:: NC_000015.10:25268102:T:C
Gene:: SNORD115-48 (Varview), SNORD115-47 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25268103T>C, NC_000015.9:g.25513250T>C, NG_002690.1:g.487194T>C

Select item 14816109267.

rs1481610926 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:25269536 (GRCh38)
15:25514683 (GRCh37)
Canonical SPDI:: NC_000015.10:25269535:T:A
Gene:: SNORD115-48 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.25269536T>A, NC_000015.9:g.25514683T>A, NG_002690.1:g.488627T>A

Select item 14811752388.

rs1481175238 [Homo sapiens]

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

Select item 14777551889.

rs1477755188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25268306 (GRCh38)
15:25513453 (GRCh37)
Canonical SPDI:: NC_000015.10:25268305:T:C
Gene:: SNORD115-48 (Varview), SNORD115-47 (Varview), SNHG14 (Varview)
Functional Consequence:: 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.25268306T>C, NC_000015.9:g.25513453T>C, NG_002690.1:g.487397T>C

Select item 147717826210.

rs1477178262 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 15:25267873 (GRCh38)
15:25513020 (GRCh37)
Canonical SPDI:: NC_000015.10:25267872:T:
Gene:: SNORD115-48 (Varview), SNORD115-47 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000064/17 (TOPMED)
-=0.000072/10 (GnomAD)
HGVS:: NC_000015.10:g.25267873del, NC_000015.9:g.25513020del, NG_002690.1:g.486964del

Select item 147684966811.

rs1476849668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:25268422 (GRCh38)
15:25513569 (GRCh37)
Canonical SPDI:: NC_000015.10:25268421:C:A
Gene:: SNORD115-48 (Varview), SNORD115-47 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.25268422C>A, NC_000015.9:g.25513569C>A, NG_002690.1:g.487513C>A, NR_146177.1:n.18034C>A

Select item 147639979412.

rs1476399794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25269278 (GRCh38)
15:25514425 (GRCh37)
Canonical SPDI:: NC_000015.10:25269277:G:A
Gene:: SNORD115-48 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25269278G>A, NC_000015.9:g.25514425G>A, NG_002690.1:g.488369G>A

Select item 147612282913.

rs1476122829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25267823 (GRCh38)
15:25512970 (GRCh37)
Canonical SPDI:: NC_000015.10:25267822:C:T
Gene:: SNORD115-48 (Varview), SNORD115-47 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.0019/31 (ALFA)
HGVS:: NC_000015.10:g.25267823C>T, NC_000015.9:g.25512970C>T, NG_002690.1:g.486914C>T

Select item 147476981114.

rs1474769811 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25268206 (GRCh38)
15:25513353 (GRCh37)
Canonical SPDI:: NC_000015.10:25268205:T:C
Gene:: SNORD115-48 (Varview), SNORD115-47 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25268206T>C, NC_000015.9:g.25513353T>C, NG_002690.1:g.487297T>C

Select item 147170315915.

rs1471703159 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 15:25269010 (GRCh38)
15:25514157 (GRCh37)
Canonical SPDI:: NC_000015.10:25269009:TG:
Gene:: SNORD115-48 (Varview), SNORD115-47 (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:: -=0.000927/11 (ALFA)
-=0.000067/9 (GnomAD)
HGVS:: NC_000015.10:g.25269010_25269011del, NC_000015.9:g.25514157_25514158del, NG_002690.1:g.488101_488102del

Select item 146988726516.

rs1469887265 [Homo sapiens]

Variant type:: DEL
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 15:25268988 (GRCh38)
15:25514135 (GRCh37)
Canonical SPDI:: NC_000015.10:25268987:CTTT:
Gene:: SNORD115-48 (Varview), SNORD115-47 (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:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.25268988_25268991del, NC_000015.9:g.25514135_25514138del, NG_002690.1:g.488079_488082del

Select item 146962942317.

rs1469629423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25268964 (GRCh38)
15:25514111 (GRCh37)
Canonical SPDI:: NC_000015.10:25268963:C:T
Gene:: SNORD115-48 (Varview), SNORD115-47 (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=0.000008/1 (GnomAD)
HGVS:: NC_000015.10:g.25268964C>T, NC_000015.9:g.25514111C>T, NG_002690.1:g.488055C>T

Select item 146676127618.

rs1466761276 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:25269991 (GRCh38)
15:25515138 (GRCh37)
Canonical SPDI:: NC_000015.10:25269990:A:C
Gene:: SNORD115-48 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25269991A>C, NC_000015.9:g.25515138A>C, NG_002690.1:g.489082A>C

Select item 146353515119.

rs1463535151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25268603 (GRCh38)
15:25513750 (GRCh37)
Canonical SPDI:: NC_000015.10:25268602:G:A
Gene:: SNORD115-48 (Varview), SNORD115-47 (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:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25268603G>A, NC_000015.9:g.25513750G>A, NG_002690.1:g.487694G>A

Select item 146330810320.

rs1463308103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:25269039 (GRCh38)
15:25514186 (GRCh37)
Canonical SPDI:: NC_000015.10:25269038:G:A,NC_000015.10:25269038:G:T
Gene:: SNORD115-48 (Varview), SNORD115-47 (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)
A=0.000004/1 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000015.10:g.25269039G>A, NC_000015.10:g.25269039G>T, NC_000015.9:g.25514186G>A, NC_000015.9:g.25514186G>T, NG_002690.1:g.488130G>A, NG_002690.1:g.488130G>T

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