Links from Nucleotide
Items: 1 to 20 of 474
1.
rs1489875379 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20596806
(GRCh38)
14:21064965
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20596805:A:G
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
4.
rs1485691556 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:20606180
(GRCh38)
14:21074339
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20606179:C:A
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000156/1
(1000Genomes)
- HGVS:
5.
rs1485491457 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:20606802
(GRCh38)
14:21074961
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20606801:C:G
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
6.
rs1485031780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:20607186
(GRCh38)
14:21075345
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20607185:G:C
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- 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:
7.
rs1483687111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20590576
(GRCh38)
14:21058735
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20590575:T:C
- Gene:
- RNASE11 (Varview), RNASE11-AS1 (Varview), RNASE12 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1477111216 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TT
[Show Flanks]
- Chromosome:
- 14:20590454
(GRCh38)
14:21058614
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20590454:TTTT:TTTTTT
- Gene:
- RNASE11 (Varview), RNASE11-AS1 (Varview), RNASE12 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTT=0./0
(
ALFA)
TT=0.000008/2
(TOPMED)
TT=0.000014/2
(GnomAD)
- HGVS:
9.
rs1476972258 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20605871
(GRCh38)
14:21074030
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20605870:G:A
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1476490017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20596794
(GRCh38)
14:21064953
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20596793:T:C
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1476312207 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20606777
(GRCh38)
14:21074936
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20606776:G:A
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- non_coding_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.
rs1476085054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20606421
(GRCh38)
14:21074580
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20606420:C:T
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1475976880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:20605866
(GRCh38)
14:21074025
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20605865:G:A,NC_000014.9:20605865:G:C
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00007/1
(
ALFA)
C=0.00022/1
(Estonian)
- HGVS:
14.
rs1475657028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20590643
(GRCh38)
14:21058802
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20590642:T:C
- Gene:
- RNASE11 (Varview), RNASE11-AS1 (Varview), RNASE12 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1474585344 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20588228
(GRCh38)
14:21056387
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20588227:C:T
- Gene:
- RNASE11 (Varview), RNASE11-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1469535208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20590639
(GRCh38)
14:21058798
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20590638:G:A
- Gene:
- RNASE11 (Varview), RNASE11-AS1 (Varview), RNASE12 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1468211174 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 14:20590590
(GRCh38)
14:21058750
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20590590:A:AA
- Gene:
- RNASE11 (Varview), RNASE11-AS1 (Varview), RNASE12 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1465740760 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 14:20606035
(GRCh38)
14:21074195
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20606035:A:AA
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1465569507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20607138
(GRCh38)
14:21075297
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20607137:C:T
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1465303483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:20606741
(GRCh38)
14:21074900
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20606740:A:C
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS: