Links from Nucleotide
Items: 1 to 20 of 61
1.
rs1480373000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 3:39408396
(GRCh38)
3:39449887
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408395:A:G,NC_000003.12:39408395:A:T
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000026/7
(TOPMED)
G=0.000029/7
(GnomAD_exomes)
T=0.000684/2
(KOREAN)
- HGVS:
2.
rs1472982030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:39408441
(GRCh38)
3:39449932
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408440:T:C
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000074/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
3.
rs1461066829 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 3:39408429
(GRCh38)
3:39449920
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408428:C:
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1454678364 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:39408508
(GRCh38)
3:39449999
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408507:A:G
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1453214041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:39408446
(GRCh38)
3:39449937
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408445:G:T
- Gene:
- RPSA (Varview), SNORA6 (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=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1432663700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:39408510
(GRCh38)
3:39450001
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408509:T:G
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1419831548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:39408485
(GRCh38)
3:39449976
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408484:C:G
- Gene:
- RPSA (Varview), SNORA6 (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=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1412973295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 3:39408521
(GRCh38)
3:39450012
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408520:A:C,NC_000003.12:39408520:A:G
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
9.
rs1406886355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:39408512
(GRCh38)
3:39450003
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408511:G:A
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- non_coding_transcript_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:
10.
rs1379022300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:39408533
(GRCh38)
3:39450024
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408532:C:G
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
11.
rs1361533021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 3:39408526
(GRCh38)
3:39450017
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408525:T:A,NC_000003.12:39408525:T:C
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1354733652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:39408426
(GRCh38)
3:39449917
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408425:T:C
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1352632961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:39408495
(GRCh38)
3:39449986
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408494:G:T
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1338240570 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:39408393
(GRCh38)
3:39449884
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408392:C:T
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- intron_variant,non_coding_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:
16.
rs1270511968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:39408522
(GRCh38)
3:39450013
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408521:G:A
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(GnomAD)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1262154495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:39408488
(GRCh38)
3:39449979
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408487:C:T
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1221271545 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTGC>-
[Show Flanks]
- Chromosome:
- 3:39408497
(GRCh38)
3:39449988
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408494:GCTTGC:GC
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
19.
rs1183573047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:39408464
(GRCh38)
3:39449955
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408463:C:A
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1176828827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:39408402
(GRCh38)
3:39449893
(GRCh37)
- Canonical SPDI:
- NC_000003.12:39408401:A:C
- Gene:
- RPSA (Varview), SNORA6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS: