Links from Gene
Items: 1 to 20 of 1000
2.
rs1491264062 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 1:70232410
(GRCh38)
1:70698093
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70232409:GA:
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000005/1
(GnomAD_exomes)
-=0.000008/1
(ExAC)
- HGVS:
3.
rs1491195771 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 1:70214916
(GRCh38)
1:70680599
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70214915:TG:
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00349/57
(
ALFA)
-=0.00308/52
(TOMMO)
-=0.00497/9
(Korea1K)
- HGVS:
4.
rs1491064546 has merged into rs72113966 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:70240785
(GRCh38)
1:70706468
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.70240785_70240792del, NC_000001.11:g.70240786_70240792del, NC_000001.11:g.70240788_70240792del, NC_000001.11:g.70240789_70240792del, NC_000001.11:g.70240790_70240792del, NC_000001.11:g.70240791_70240792del, NC_000001.11:g.70240792del, NC_000001.11:g.70240792dup, NC_000001.11:g.70240791_70240792dup, NC_000001.11:g.70240790_70240792dup, NC_000001.11:g.70240789_70240792dup, NC_000001.11:g.70240788_70240792dup, NC_000001.11:g.70240787_70240792dup, NC_000001.11:g.70240786_70240792dup, NC_000001.11:g.70240785_70240792dup, NC_000001.11:g.70240792_70240793insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.70706468_70706475del, NC_000001.10:g.70706469_70706475del, NC_000001.10:g.70706471_70706475del, NC_000001.10:g.70706472_70706475del, NC_000001.10:g.70706473_70706475del, NC_000001.10:g.70706474_70706475del, NC_000001.10:g.70706475del, NC_000001.10:g.70706475dup, NC_000001.10:g.70706474_70706475dup, NC_000001.10:g.70706473_70706475dup, NC_000001.10:g.70706472_70706475dup, NC_000001.10:g.70706471_70706475dup, NC_000001.10:g.70706470_70706475dup, NC_000001.10:g.70706469_70706475dup, NC_000001.10:g.70706468_70706475dup, NC_000001.10:g.70706475_70706476insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
6.
rs1491026052 has merged into rs369129508 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:70242177
(GRCh38)
1:70707860
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.2366/1185
(1000Genomes)
A=0.375/3
(KOREAN)
- HGVS:
NC_000001.11:g.70242177_70242181del, NC_000001.11:g.70242178_70242181del, NC_000001.11:g.70242179_70242181del, NC_000001.11:g.70242180_70242181del, NC_000001.11:g.70242181del, NC_000001.11:g.70242181dup, NC_000001.11:g.70242180_70242181dup, NC_000001.11:g.70242179_70242181dup, NC_000001.11:g.70242178_70242181dup, NC_000001.11:g.70242175_70242181dup, NC_000001.10:g.70707860_70707864del, NC_000001.10:g.70707861_70707864del, NC_000001.10:g.70707862_70707864del, NC_000001.10:g.70707863_70707864del, NC_000001.10:g.70707864del, NC_000001.10:g.70707864dup, NC_000001.10:g.70707863_70707864dup, NC_000001.10:g.70707862_70707864dup, NC_000001.10:g.70707861_70707864dup, NC_000001.10:g.70707858_70707864dup
7.
rs1490875930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:70230323
(GRCh38)
1:70696006
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70230322:T:G
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490810007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:70224270
(GRCh38)
1:70689953
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70224269:A:G
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490649942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:70239781
(GRCh38)
1:70705464
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70239780:T:G
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490634307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:70240732
(GRCh38)
1:70706415
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70240731:A:T
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490511736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:70247509
(GRCh38)
1:70713192
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70247508:A:G
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000071/1
(TOMMO)
- HGVS:
13.
rs1490391424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:70233173
(GRCh38)
1:70698856
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70233172:G:A
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490228269 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:70247026
(GRCh38)
1:70712710
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70247026:A:AA
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0.000071/1
(
ALFA)
A=0.000068/18
(TOPMED)
A=0.000078/11
(GnomAD)
- HGVS:
16.
rs1490183301 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:70210162
(GRCh38)
1:70675845
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70210161:C:G
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490121158 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:70244539
(GRCh38)
1:70710222
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70244538:G:A
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0./0
(GnomAD)
- HGVS:
18.
rs1490114784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:70217768
(GRCh38)
1:70683451
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70217767:T:C
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_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:
19.
rs1489958089 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:70245673
(GRCh38)
1:70711356
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70245672:G:A,NC_000001.11:70245672:G:T
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489845623 has merged into rs966796673 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA,AAA
[Show Flanks]
- Chromosome:
- 1:70226192
(GRCh38)
1:70691875
(GRCh37)
- Canonical SPDI:
- NC_000001.11:70226191:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:70226191:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:70226191:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- SRSF11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0.00005/1
(
ALFA)
- HGVS: