Links from Gene
Items: 1 to 20 of 692
2.
rs1488840864 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 4:151102177
(GRCh38)
4:152023330
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151102177:A:AA
- Gene:
- RPS3A (Varview), SNORD73A (Varview), SNORD73B (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
4.
rs1487793101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:151104178
(GRCh38)
4:152025330
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151104177:A:G
- Gene:
- RPS3A (Varview), SNORD73A (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000111/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000004.12:g.151104178A>G, NC_000004.11:g.152025330A>G, NW_025791772.1:g.40909A>G, NM_001006.5:c.565A>G, NM_001006.4:c.565A>G, NM_182777.2:c.565A>G, NM_001267699.2:c.*1297A>G, NM_001267699.1:c.*1297A>G, NR_047688.1:n.1554A>G, NM_182777.1:c.565A>G, NP_000997.1:p.Ile189Val
5.
rs1487279983 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:151102377
(GRCh38)
4:152023529
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151102376:G:A
- Gene:
- RPS3A (Varview), SNORD73A (Varview), SNORD73B (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1483805947 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCTTGGACTCAGAAG>-
[Show Flanks]
- Chromosome:
- 4:151103941
(GRCh38)
4:152025093
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151103937:AAGGCTTGGACTCAGAAG:AAG
- Gene:
- RPS3A (Varview), SNORD73A (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1482874284 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:151102640
(GRCh38)
4:152023792
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151102639:G:A
- Gene:
- RPS3A (Varview), SNORD73A (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
8.
rs1482439533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:151103677
(GRCh38)
4:152024829
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151103676:G:C
- Gene:
- RPS3A (Varview), SNORD73A (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1480951505 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:151103545
(GRCh38)
4:152024697
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151103544:A:G
- Gene:
- RPS3A (Varview), SNORD73A (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1478512903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:151102832
(GRCh38)
4:152023984
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151102831:G:A
- Gene:
- RPS3A (Varview), SNORD73A (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
11.
rs1477957547 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 4:151104035
(GRCh38)
4:152025187
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151104034:T:A,NC_000004.12:151104034:T:C
- Gene:
- RPS3A (Varview), SNORD73A (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.151104035T>A, NC_000004.12:g.151104035T>C, NC_000004.11:g.152025187T>A, NC_000004.11:g.152025187T>C, NW_025791772.1:g.40766T>A, NW_025791772.1:g.40766T>C, NM_001267699.2:c.*1154T>A, NM_001267699.2:c.*1154T>C, NM_001267699.1:c.*1154T>A, NM_001267699.1:c.*1154T>C, NR_047688.1:n.1411T>A, NR_047688.1:n.1411T>C
12.
rs1477767139 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:151103311
(GRCh38)
4:152024463
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151103310:G:A
- Gene:
- RPS3A (Varview), SNORD73A (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
13.
rs1473495125 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:151102015
(GRCh38)
4:152023167
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151102014:G:A
- Gene:
- RPS3A (Varview), SNORD73A (Varview), SNORD73B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1473197794 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 4:151103614
(GRCh38)
4:152024766
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151103613:T:A,NC_000004.12:151103613:T:C
- Gene:
- RPS3A (Varview), SNORD73A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
NC_000004.12:g.151103614T>A, NC_000004.12:g.151103614T>C, NC_000004.11:g.152024766T>A, NC_000004.11:g.152024766T>C, NW_025791772.1:g.40345T>A, NW_025791772.1:g.40345T>C, NM_001267699.2:c.*733T>A, NM_001267699.2:c.*733T>C, NM_001267699.1:c.*733T>A, NM_001267699.1:c.*733T>C, NR_047688.1:n.990T>A, NR_047688.1:n.990T>C
15.
rs1472124988 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:151103664
(GRCh38)
4:152024816
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151103663:G:A
- Gene:
- RPS3A (Varview), SNORD73A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
16.
rs1471795318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:151104052
(GRCh38)
4:152025204
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151104051:A:T
- Gene:
- RPS3A (Varview), SNORD73A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1469442293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:151102283
(GRCh38)
4:152023435
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151102282:T:C
- Gene:
- RPS3A (Varview), SNORD73A (Varview), SNORD73B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1468993216 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:151103159
(GRCh38)
4:152024311
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151103158:A:G
- Gene:
- RPS3A (Varview), SNORD73A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1466598653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:151102373
(GRCh38)
4:152023525
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151102372:T:A
- Gene:
- RPS3A (Varview), SNORD73A (Varview), SNORD73B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1465089404 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:151103057
(GRCh38)
4:152024209
(GRCh37)
- Canonical SPDI:
- NC_000004.12:151103056:T:C
- Gene:
- RPS3A (Varview), SNORD73A (Varview)
- Functional Consequence:
- synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS: