Links from Gene
Items: 1 to 20 of 836
1.
rs1488799803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:25243818
(GRCh38)
15:25488965
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25243817:G:A,NC_000015.10:25243817:G:C
- Gene:
- SNORD115-40 (Varview), SNORD115-41 (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:
- HGVS:
2.
rs1487824049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25244179
(GRCh38)
15:25489326
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25244178:A:G
- Gene:
- SNORD115-40 (Varview), SNORD115-41 (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./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000036/5
(GnomAD)
G=0.000156/1
(1000Genomes)
- HGVS:
3.
rs1487164778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:25244065
(GRCh38)
15:25489212
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25244064:T:C
- Gene:
- SNORD115-40 (Varview), SNORD115-41 (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:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1486048426 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25242090
(GRCh38)
15:25487237
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25242089:A:G
- Gene:
- SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1485686665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 15:25242920
(GRCh38)
15:25488067
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25242919:T:G
- Gene:
- SNORD115-40 (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=0.000038/10
(TOPMED)
G=0.000043/6
(GnomAD)
- HGVS:
6.
rs1485644688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25242458
(GRCh38)
15:25487605
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25242457:G:A
- Gene:
- SNORD115-40 (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:
7.
rs1485512296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25243199
(GRCh38)
15:25488346
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25243198:A:G
- Gene:
- SNORD115-40 (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=0.000021/3
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
8.
rs1485428569 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 15:25242239
(GRCh38)
15:25487386
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25242238:G:A,NC_000015.10:25242238:G:C,NC_000015.10:25242238:G:T
- Gene:
- SNORD115-39 (Varview), SNORD115-40 (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=0.000007/1
(GnomAD)
- HGVS:
13.
rs1478462840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:25243862
(GRCh38)
15:25489009
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25243861:G:T
- Gene:
- SNORD115-40 (Varview), SNORD115-41 (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=0.000008/2
(TOPMED)
- HGVS:
14.
rs1477505330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:25243503
(GRCh38)
15:25488650
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25243502:T:C
- Gene:
- SNORD115-40 (Varview), SNORD115-41 (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./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1476885626 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TCTG
[Show Flanks]
- Chromosome:
- 15:25243542
(GRCh38)
15:25488690
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25243542::TCTG
- Gene:
- SNORD115-40 (Varview), SNORD115-41 (Varview), SNHG14 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTG=0.000084/1
(
ALFA)
TCTG=0.000023/6
(TOPMED)
TCTG=0.000029/4
(GnomAD)
- HGVS:
16.
rs1476821760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25244112
(GRCh38)
15:25489259
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25244111:C:T
- Gene:
- SNORD115-40 (Varview), SNORD115-41 (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)
- HGVS:
17.
rs1476710178 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25242744
(GRCh38)
15:25487891
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25242743:C:T
- Gene:
- SNORD115-40 (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=0.000026/7
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
18.
rs1476205321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25242160
(GRCh38)
15:25487307
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25242159:G:A
- Gene:
- SNORD115-39 (Varview), SNORD115-40 (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./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1476027069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 15:25243186
(GRCh38)
15:25488333
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25243185:C:G,NC_000015.10:25243185:C:T
- Gene:
- SNORD115-40 (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)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1472700099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:25243653
(GRCh38)
15:25488800
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25243652:T:C
- Gene:
- SNORD115-40 (Varview), SNORD115-41 (Varview), SNHG14 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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=0.000014/2
(GnomAD)
- HGVS: