Links from Gene
Items: 1 to 20 of 682
1.
rs1486221390 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:25041577
(GRCh38)
15:25286724
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25041576:T:C
- Gene:
- SNORD109A (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
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1486158499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25042467
(GRCh38)
15:25287614
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25042466:C:T
- Gene:
- SNORD109A (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1486115470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25041907
(GRCh38)
15:25287054
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25041906:A:G
- Gene:
- SNORD109A (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)
G=0.000071/2
(TOMMO)
- HGVS:
4.
rs1485563825 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25042454
(GRCh38)
15:25287601
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25042453:C:T
- Gene:
- SNORD109A (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1484271642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:25040171
(GRCh38)
15:25285318
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25040170:G:A,NC_000015.10:25040170:G:C
- Gene:
- SNORD109A (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)
- HGVS:
7.
rs1483407245 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:25041970
(GRCh38)
15:25287117
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25041969:G:C
- Gene:
- SNORD109A (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1482411262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 15:25042076
(GRCh38)
15:25287223
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25042075:T:G
- Gene:
- SNORD109A (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1482202121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25040277
(GRCh38)
15:25285424
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25040276:A:G
- Gene:
- SNORD109A (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1478325577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25042533
(GRCh38)
15:25287680
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25042532:C:T
- Gene:
- SNORD109A (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1477595372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25041343
(GRCh38)
15:25286490
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25041342:A:G
- Gene:
- SNORD109A (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:
13.
rs1476096587 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25042428
(GRCh38)
15:25287575
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25042427:A:G
- Gene:
- SNORD109A (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
14.
rs1474974186 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 15:25042112
(GRCh38)
15:25287259
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25042111:AA:A
- Gene:
- SNORD109A (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.00005/7
(GnomAD)
- HGVS:
15.
rs1473575240 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTA
[Show Flanks]
- Chromosome:
- 15:25040720
(GRCh38)
15:25285868
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25040720:ATTATTA:ATTATTATTA
- Gene:
- SNORD109A (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATTATTATTA=0./0
(
ALFA)
ATT=0.000011/3
(TOPMED)
ATT=0.000021/3
(GnomAD)
- HGVS:
16.
rs1472687482 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATTTTTTATA>-
[Show Flanks]
- Chromosome:
- 15:25040999
(GRCh38)
15:25286146
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25040989:TTTTTTATATATTTTTTATA:TTTTTTATA
- Gene:
- SNORD109A (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTATA=0./0
(
ALFA)
-=0.000043/6
(GnomAD)
-=0.000064/17
(TOPMED)
- HGVS:
17.
rs1471718430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25040123
(GRCh38)
15:25285270
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25040122:G:A
- Gene:
- SNORD109A (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000223/1
(Estonian)
- HGVS:
18.
rs1469230651 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25040547
(GRCh38)
15:25285694
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25040546:A:G
- Gene:
- SNORD109A (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=0.000014/2
(GnomAD)
- HGVS:
20.
rs1468030577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25042003
(GRCh38)
15:25287150
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25042002:A:G
- Gene:
- SNORD109A (Varview), SNHG14 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS: