Links from Gene
Items: 1 to 20 of 796
1.
rs1490699996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25174878
(GRCh38)
15:25420025
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25174877:C:T
- Gene:
- SNORD115-3 (Varview), SNORD115-4 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000009/2
(GnomAD_exomes)
- HGVS:
2.
rs1488669767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25173690
(GRCh38)
15:25418837
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25173689:C:T
- Gene:
- SNORD115-3 (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=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
5.
rs1485872626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25172988
(GRCh38)
15:25418135
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25172987:A:G
- Gene:
- SNORD115-2 (Varview), SNORD115-3 (Varview), SNHG14 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.010593/173
(
ALFA)
G=0.0047/633
(GnomAD)
G=0.009994/64
(1000Genomes)
G=0.019196/86
(Estonian)
- HGVS:
6.
rs1485352691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25173746
(GRCh38)
15:25418893
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25173745:C:T
- Gene:
- SNORD115-3 (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=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1483429924 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:25174739
(GRCh38)
15:25419886
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25174738:G:C
- Gene:
- SNORD115-3 (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=0.000008/2
(TOPMED)
- HGVS:
8.
rs1483362824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:25174050
(GRCh38)
15:25419197
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25174049:G:T
- Gene:
- SNORD115-3 (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=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
9.
rs1481887255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:25175194
(GRCh38)
15:25420341
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25175193:T:C
- Gene:
- SNORD115-3 (Varview), SNORD115-4 (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=0.000021/3
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
10.
rs1481763589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25173117
(GRCh38)
15:25418264
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25173116:C:T
- Gene:
- SNORD115-2 (Varview), SNORD115-3 (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:
12.
rs1479819820 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 15:25173823
(GRCh38)
15:25418970
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25173822:T:C,NC_000015.10:25173822:T:G
- Gene:
- SNORD115-3 (Varview), SNHG14 (Varview)
- Functional Consequence:
- non_coding_transcript_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)
G=0.003821/7
(Korea1K)
- HGVS:
13.
rs1479665999 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25173056
(GRCh38)
15:25418203
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25173055:A:G
- Gene:
- SNORD115-2 (Varview), SNORD115-3 (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:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1479004075 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 15:25174326
(GRCh38)
15:25419473
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25174325:A:
- Gene:
- SNORD115-3 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
15.
rs1478964607 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25175210
(GRCh38)
15:25420357
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25175209:G:A
- Gene:
- SNORD115-3 (Varview), SNORD115-4 (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=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1478913319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:25173724
(GRCh38)
15:25418871
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25173723:G:C
- Gene:
- SNORD115-3 (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=0.000014/2
(GnomAD)
C=0.000019/5
(TOPMED)
C=0.000035/1
(TOMMO)
C=0.000156/1
(1000Genomes)
- HGVS:
17.
rs1478531392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25174117
(GRCh38)
15:25419264
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25174116:C:T
- Gene:
- SNORD115-3 (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:
18.
rs1477767838 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25174713
(GRCh38)
15:25419860
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25174712:G:A
- Gene:
- SNORD115-3 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_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:
19.
rs1477271089 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 15:25173004
(GRCh38)
15:25418151
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25173003:T:A
- Gene:
- SNORD115-2 (Varview), SNORD115-3 (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=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1476879609 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 15:25174267
(GRCh38)
15:25419414
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25174266:AAAA:AAA
- Gene:
- SNORD115-3 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.000038/10
(TOPMED)
-=0.000064/9
(GnomAD)
- HGVS: