Links from Nucleotide
Items: 1 to 20 of 62
1.
rs1464013251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:75400461
(GRCh38)
11:75111505
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400460:G:C
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
2.
rs1461760221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:75400522
(GRCh38)
11:75111566
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400521:G:A,NC_000011.10:75400521:G:T
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1439503634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:75400434
(GRCh38)
11:75111478
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400433:C:T
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1432005834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:75400407
(GRCh38)
11:75111451
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400406:A:G
- Gene:
- SNORD15A (Varview), RPS3 (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
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1425330931 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:75400406
(GRCh38)
11:75111450
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400405:G:A
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000009/2
(GnomAD_exomes)
- HGVS:
6.
rs1421805636 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:75400481
(GRCh38)
11:75111525
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400480:A:T
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1401982745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 11:75400486
(GRCh38)
11:75111530
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400485:C:A,NC_000011.10:75400485:C:T
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
8.
rs1394592849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:75400487
(GRCh38)
11:75111531
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400486:C:T
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000008/2
(GnomAD_exomes)
- HGVS:
9.
rs1392446531 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:75400518
(GRCh38)
11:75111562
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400517:A:G
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
10.
rs1384267823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:75400496
(GRCh38)
11:75111540
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400495:A:G
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1378591500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:75400530
(GRCh38)
11:75111574
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400529:C:T
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1338447237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 11:75400414
(GRCh38)
11:75111458
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400413:G:C,NC_000011.10:75400413:G:T
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1318539530 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:75400422
(GRCh38)
11:75111466
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400421:T:C
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_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:
14.
rs1297837326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:75400409
(GRCh38)
11:75111453
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400408:G:A
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000009/2
(GnomAD_exomes)
- HGVS:
15.
rs1293075878 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 11:75400460
(GRCh38)
11:75111504
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400459:T:A,NC_000011.10:75400459:T:G
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
16.
rs1289636925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:75400485
(GRCh38)
11:75111529
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400484:G:A,NC_000011.10:75400484:G:T
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.00003/8
(TOPMED)
- HGVS:
17.
rs1284679914 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:75400442
(GRCh38)
11:75111486
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400441:A:G
- Gene:
- SNORD15A (Varview), RPS3 (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=0.000004/1
(TOPMED)
- HGVS:
18.
rs1269413499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:75400391
(GRCh38)
11:75111435
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400390:C:T
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
20.
rs1246566927 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGA
[Show Flanks]
- Chromosome:
- 11:75400402
(GRCh38)
11:75111447
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75400402:GATGATGA:GATGATGATGA
- Gene:
- SNORD15A (Varview), RPS3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GATGATGATGA=0.000071/1
(
ALFA)
GAT=0.000008/2
(TOPMED)
- HGVS: