Links from Gene
Items: 1 to 20 of 1000
1.
rs1491568161 has merged into rs34644413 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:157754702
(GRCh38)
5:157181710
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.473/2369
(1000Genomes)
- HGVS:
NC_000005.10:g.157754702_157754713del, NC_000005.10:g.157754708_157754713del, NC_000005.10:g.157754709_157754713del, NC_000005.10:g.157754710_157754713del, NC_000005.10:g.157754711_157754713del, NC_000005.10:g.157754712_157754713del, NC_000005.10:g.157754713del, NC_000005.10:g.157754713dup, NC_000005.10:g.157754712_157754713dup, NC_000005.10:g.157754711_157754713dup, NC_000005.10:g.157754710_157754713dup, NC_000005.10:g.157754709_157754713dup, NC_000005.9:g.157181710_157181721del, NC_000005.9:g.157181716_157181721del, NC_000005.9:g.157181717_157181721del, NC_000005.9:g.157181718_157181721del, NC_000005.9:g.157181719_157181721del, NC_000005.9:g.157181720_157181721del, NC_000005.9:g.157181721del, NC_000005.9:g.157181721dup, NC_000005.9:g.157181720_157181721dup, NC_000005.9:g.157181719_157181721dup, NC_000005.9:g.157181718_157181721dup, NC_000005.9:g.157181717_157181721dup
2.
rs1491430655 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 5:157754692
(GRCh38)
5:157181700
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157754691:CA:
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01104/131
(
ALFA)
-=0.00102/45
(GnomAD)
-=0.00149/42
(TOMMO)
- HGVS:
3.
rs1491151814 has merged into rs35074350 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:157753932
(GRCh38)
5:157180940
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157753922:TTTTTTTTTTT:TTTTTTTTT,NC_000005.10:157753922:TTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:157753922:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:157753922:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:157753922:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:157753922:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.003/7
(1000Genomes)
- HGVS:
NC_000005.10:g.157753932_157753933del, NC_000005.10:g.157753933del, NC_000005.10:g.157753933dup, NC_000005.10:g.157753932_157753933dup, NC_000005.10:g.157753928_157753933dup, NC_000005.10:g.157753923_157753933dup, NC_000005.9:g.157180940_157180941del, NC_000005.9:g.157180941del, NC_000005.9:g.157180941dup, NC_000005.9:g.157180940_157180941dup, NC_000005.9:g.157180936_157180941dup, NC_000005.9:g.157180931_157180941dup
4.
rs1491135725 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 5:157752866
(GRCh38)
5:157179874
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157752864:AGA:A
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
5.
rs1490834514 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:157746635
(GRCh38)
5:157173643
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157746634:C:T
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000042/11
(TOPMED)
- HGVS:
6.
rs1490686323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:157750917
(GRCh38)
5:157177925
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157750916:G:A
- Gene:
- LSM11 (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:
7.
rs1490615406 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:157748211
(GRCh38)
5:157175219
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157748210:T:C
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490598344 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:157756369
(GRCh38)
5:157183377
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157756368:A:G
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000045/12
(TOPMED)
G=0.00005/7
(GnomAD)
- HGVS:
9.
rs1489867718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:157754158
(GRCh38)
5:157181166
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157754157:C:T
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
10.
rs1489436263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:157758385
(GRCh38)
5:157185393
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157758384:C:T
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
11.
rs1489282576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 5:157752990
(GRCh38)
5:157179998
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157752989:T:A
- Gene:
- LSM11 (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:
13.
rs1488854225 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 5:157746143
(GRCh38)
5:157173151
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157746142:T:
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
14.
rs1488796176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 5:157744150
(GRCh38)
5:157171158
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157744149:C:A,NC_000005.10:157744149:C:T
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000005.10:g.157744150C>A, NC_000005.10:g.157744150C>T, NC_000005.9:g.157171158C>A, NC_000005.9:g.157171158C>T, NM_173491.4:c.400C>A, NM_173491.4:c.400C>T, NM_173491.3:c.400C>A, NM_173491.3:c.400C>T, NM_173491.2:c.400C>A, NM_173491.2:c.400C>T, NP_775762.1:p.Pro134Thr, NP_775762.1:p.Pro134Ser
15.
rs1488689683 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:157742256
(GRCh38)
5:157169264
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157742255:C:G,NC_000005.10:157742255:C:T
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS:
16.
rs1488667232 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:157743605
(GRCh38)
5:157170613
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157743604:C:T
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1488343609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:157744634
(GRCh38)
5:157171642
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157744633:G:A
- Gene:
- LSM11 (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:
18.
rs1488202004 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 5:157758828
(GRCh38)
5:157185836
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157758827:A:G,NC_000005.10:157758827:A:T
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
19.
rs1488157768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 5:157744145
(GRCh38)
5:157171153
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157744144:G:A,NC_000005.10:157744144:G:C
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000005.10:g.157744145G>A, NC_000005.10:g.157744145G>C, NC_000005.9:g.157171153G>A, NC_000005.9:g.157171153G>C, NM_173491.4:c.395G>A, NM_173491.4:c.395G>C, NM_173491.3:c.395G>A, NM_173491.3:c.395G>C, NM_173491.2:c.395G>A, NM_173491.2:c.395G>C, NP_775762.1:p.Arg132Lys, NP_775762.1:p.Arg132Thr
20.
rs1488114479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:157754665
(GRCh38)
5:157181673
(GRCh37)
- Canonical SPDI:
- NC_000005.10:157754664:C:G
- Gene:
- LSM11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: