Links from Gene
Items: 1 to 20 of 757
1.
rs1489828006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:75399228
(GRCh38)
11:75110272
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75399227:G:A
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000064/9
(GnomAD)
A=0.000113/30
(TOPMED)
A=0.000312/2
(1000Genomes)
- HGVS:
2.
rs1488884371 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 11:75400997
(GRCh38)
11:75112041
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400996:G:A,NC_000011.10:75400996:G:C,NC_000011.10:75400996:G:T
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
3.
rs1488237623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:75400202
(GRCh38)
11:75111246
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400201:G:C
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
4.
rs1485810697 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:75399815
(GRCh38)
11:75110859
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75399814:C:G
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
G=0.000156/1
(1000Genomes)
- HGVS:
5.
rs1485159967 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 11:75399136
(GRCh38)
11:75110180
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75399135:T:A,NC_000011.10:75399135:T:C
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1483642952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:75400087
(GRCh38)
11:75111131
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400086:T:C
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
7.
rs1483537207 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:75400933
(GRCh38)
11:75111977
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400932:A:C
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1482793142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:75399980
(GRCh38)
11:75111024
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75399979:C:G
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1477345003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:75399699
(GRCh38)
11:75110743
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75399698:C:T
- Gene:
- SNORD15A (Varview), RPS3 (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=0.000014/2
(GnomAD)
- HGVS:
11.
rs1476221472 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:75398671
(GRCh38)
11:75109715
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75398670:G:A
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1475924025 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:75400852
(GRCh38)
11:75111896
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400851:T:G
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1475283587 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:75399948
(GRCh38)
11:75110992
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75399947:A:G
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1475233491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:75399123
(GRCh38)
11:75110167
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75399122:A:G
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1475222509 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:75398850
(GRCh38)
11:75109894
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75398849:G:A
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1474881570 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:75399288
(GRCh38)
11:75110332
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75399287:A:C
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000023/6
(TOPMED)
C=0.000106/3
(TOMMO)
- HGVS:
17.
rs1474643736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:75399258
(GRCh38)
11:75110302
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75399257:T:C
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
18.
rs1473439428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:75400976
(GRCh38)
11:75112020
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400975:G:A,NC_000011.10:75400975:G:T
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000546/1
(Korea1K)
- HGVS:
19.
rs1472385169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 11:75400922
(GRCh38)
11:75111966
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400921:C:A,NC_000011.10:75400921:C:G
- Gene:
- SNORD15A (Varview), RPS3 (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
(TOPMED)
- HGVS:
20.
rs1470859421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:75399805
(GRCh38)
11:75110849
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75399804:C:G
- Gene:
- SNORD15A (Varview), RPS3 (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: