Links from Gene
Items: 1 to 20 of 791
1.
rs1490554662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:25239059
(GRCh38)
15:25484206
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25239058:G:C
- Gene:
- SNORD115-38 (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=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
2.
rs1489393892 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25240179
(GRCh38)
15:25485326
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25240178:A:G
- Gene:
- SNORD115-38 (Varview), SNORD115-39 (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=0.000014/2
(GnomAD)
- HGVS:
3.
rs1488367448 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:25238713
(GRCh38)
15:25483860
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25238712:G:A,NC_000015.10:25238712:G:C
- Gene:
- SNORD115-38 (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)
A=0.000014/2
(GnomAD)
- HGVS:
4.
rs1487870197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25239830
(GRCh38)
15:25484977
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25239829:C:T
- Gene:
- SNORD115-38 (Varview), SNORD115-39 (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:
5.
rs1487620620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25239719
(GRCh38)
15:25484866
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25239718:C:T
- Gene:
- SNORD115-38 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
6.
rs1486159026 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAG>-
[Show Flanks]
- Chromosome:
- 15:25240247
(GRCh38)
15:25485394
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25240243:TAGATAG:TAG
- Gene:
- SNORD115-38 (Varview), SNORD115-39 (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:
TAG=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
-=0.000035/1
(TOMMO)
- HGVS:
7.
rs1483990113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25239573
(GRCh38)
15:25484720
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25239572:G:A
- Gene:
- SNORD115-38 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_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:
8.
rs1482846422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 15:25238786
(GRCh38)
15:25483933
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25238785:G:A,NC_000015.10:25238785:G:T
- Gene:
- SNORD115-38 (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)
- HGVS:
9.
rs1481570288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25237950
(GRCh38)
15:25483097
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25237949:C:T
- Gene:
- SNORD115-37 (Varview), SNORD115-38 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1479260908 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:25240165
(GRCh38)
15:25485312
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25240164:C:A
- Gene:
- SNORD115-38 (Varview), SNORD115-39 (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./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1478830599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:25240258
(GRCh38)
15:25485405
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25240257:G:T
- Gene:
- SNORD115-38 (Varview), SNORD115-39 (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=0.000007/1
(GnomAD)
- HGVS:
13.
rs1477846547 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:25238768
(GRCh38)
15:25483915
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25238767:A:C
- Gene:
- SNORD115-38 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1471879026 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25239256
(GRCh38)
15:25484403
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25239255:C:T
- Gene:
- SNORD115-38 (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:
15.
rs1471303839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:25240219
(GRCh38)
15:25485366
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25240218:G:A,NC_000015.10:25240218:G:C
- Gene:
- SNORD115-38 (Varview), SNORD115-39 (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:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1470123437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:25239217
(GRCh38)
15:25484364
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25239216:G:T
- Gene:
- SNORD115-38 (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=0.000008/2
(TOPMED)
T=0.000389/7
(TOMMO)
T=0.001369/4
(KOREAN)
T=0.00463/1
(Vietnamese)
- HGVS:
18.
rs1469630016 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 15:25239587
(GRCh38)
15:25484734
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25239586:C:G,NC_000015.10:25239586:C:T
- Gene:
- SNORD115-38 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000132/2
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000064/9
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS:
19.
rs1469267077 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25240070
(GRCh38)
15:25485217
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25240069:C:T
- Gene:
- SNORD115-38 (Varview), SNORD115-39 (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:
20.
rs1467250160 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25238747
(GRCh38)
15:25483894
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25238746:G:A
- Gene:
- SNORD115-38 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS: