Links from Gene
Items: 1 to 20 of 4854
1.
rs1491443767 has merged into rs200096207 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:20593528
(GRCh38)
14:21061687
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0.000088/1
(
ALFA)
-=0.191484/50684
(TOPMED)
- HGVS:
NC_000014.9:g.20593528_20593534del, NC_000014.9:g.20593531_20593534del, NC_000014.9:g.20593532_20593534del, NC_000014.9:g.20593533_20593534del, NC_000014.9:g.20593534del, NC_000014.9:g.20593534dup, NC_000014.9:g.20593533_20593534dup, NC_000014.8:g.21061687_21061693del, NC_000014.8:g.21061690_21061693del, NC_000014.8:g.21061691_21061693del, NC_000014.8:g.21061692_21061693del, NC_000014.8:g.21061693del, NC_000014.8:g.21061693dup, NC_000014.8:g.21061692_21061693dup
4.
rs1490603197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20588824
(GRCh38)
14:21056983
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20588823:T:C
- Gene:
- RNASE11 (Varview), RNASE11-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490537061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20596630
(GRCh38)
14:21064789
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20596629:T:C
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490480905 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:20598667
(GRCh38)
14:21066826
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20598666:A:C
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490171310 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 14:20597709
(GRCh38)
14:21065868
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20597708:G:A,NC_000014.9:20597708:G:C,NC_000014.9:20597708:G:T
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
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:
9.
rs1489780559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:20589173
(GRCh38)
14:21057332
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20589172:A:C
- Gene:
- RNASE11 (Varview), RNASE11-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_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:
10.
rs1489762356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20597238
(GRCh38)
14:21065397
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20597237:G:A
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- 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:
11.
rs1489669893 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20598189
(GRCh38)
14:21066348
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20598188:T:C
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1489357910 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20593651
(GRCh38)
14:21061810
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20593650:A:G
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000684/2
(KOREAN)
- HGVS:
14.
rs1489339691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20597586
(GRCh38)
14:21065745
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20597585:A:G
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- 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:
15.
rs1489323390 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20594783
(GRCh38)
14:21062942
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20594782:A:G
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488959397 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 14:20605438
(GRCh38)
14:21073597
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20605437:T:A,NC_000014.9:20605437:T:C
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1488918506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:20598123
(GRCh38)
14:21066282
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20598122:C:G
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- 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:
18.
rs1488416994 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20597772
(GRCh38)
14:21065931
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20597771:G:A
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
19.
rs1488190779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:20607239
(GRCh38)
14:21075398
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20607238:G:T
- Gene:
- RNASE11-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: