Links from Gene
Items: 1 to 20 of 2016
1.
rs1491294614 has merged into rs71195130 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 4:52860635
(GRCh38)
4:53726802
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- RASL11B (Varview), LOC124900700 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
TGTGTGTGTGTG=0./0
(GENOME_DK)
- HGVS:
NC_000004.12:g.52860623GT[6], NC_000004.12:g.52860623GT[7], NC_000004.12:g.52860623GT[8], NC_000004.12:g.52860623GT[9], NC_000004.12:g.52860623GT[10], NC_000004.12:g.52860623GT[11], NC_000004.12:g.52860623GT[12], NC_000004.12:g.52860623GT[13], NC_000004.12:g.52860623GT[14], NC_000004.12:g.52860623GT[15], NC_000004.12:g.52860623GT[17], NC_000004.12:g.52860623GT[18], NC_000004.12:g.52860623GT[19], NC_000004.12:g.52860623GT[20], NC_000004.12:g.52860623GT[21], NC_000004.12:g.52860623GT[22], NC_000004.12:g.52860623GT[23], NC_000004.12:g.52860623GT[24], NC_000004.12:g.52860623GT[25], NC_000004.12:g.52860623GT[26], NC_000004.12:g.52860623GT[27], NC_000004.12:g.52860623GT[28], NC_000004.12:g.52860623GT[29], NC_000004.12:g.52860623GT[30], NC_000004.11:g.53726790GT[6], NC_000004.11:g.53726790GT[7], NC_000004.11:g.53726790GT[8], NC_000004.11:g.53726790GT[9], NC_000004.11:g.53726790GT[10], NC_000004.11:g.53726790GT[11], NC_000004.11:g.53726790GT[12], NC_000004.11:g.53726790GT[13], NC_000004.11:g.53726790GT[14], NC_000004.11:g.53726790GT[15], NC_000004.11:g.53726790GT[17], NC_000004.11:g.53726790GT[18], NC_000004.11:g.53726790GT[19], NC_000004.11:g.53726790GT[20], NC_000004.11:g.53726790GT[21], NC_000004.11:g.53726790GT[22], NC_000004.11:g.53726790GT[23], NC_000004.11:g.53726790GT[24], NC_000004.11:g.53726790GT[25], NC_000004.11:g.53726790GT[26], NC_000004.11:g.53726790GT[27], NC_000004.11:g.53726790GT[28], NC_000004.11:g.53726790GT[29], NC_000004.11:g.53726790GT[30]
2.
rs1491147692 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CG
[Show Flanks]
- Chromosome:
- 4:52860622
(GRCh38)
4:53726790
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52860622:G:GCG
- Gene:
- RASL11B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GCG=0./0
(
ALFA)
GC=0.01402/3
(GnomAD)
- HGVS:
3.
rs1490940052 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:52862387
(GRCh38)
4:53728554
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52862386:T:C
- Gene:
- RASL11B (Varview), LOC124900700 (Varview)
- Functional Consequence:
- upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
- HGVS:
4.
rs1490658251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 4:52862041
(GRCh38)
4:53728208
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52862040:C:G,NC_000004.12:52862040:C:T
- Gene:
- RASL11B (Varview), LOC124900700 (Varview)
- Functional Consequence:
- intron_variant,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:
5.
rs1490583537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:52861978
(GRCh38)
4:53728145
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52861977:G:A
- Gene:
- RASL11B (Varview), LOC124900700 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
6.
rs1489726257 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- ATG>-
[Show Flanks]
- Chromosome:
- 4:52866593
(GRCh38)
4:53732760
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52866592:ATG:
- Gene:
- RASL11B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
-=0.000546/1
(Korea1K)
- HGVS:
7.
rs1489238393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 4:52867229
(GRCh38)
4:53733396
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52867228:C:G,NC_000004.12:52867228:C:T
- Gene:
- RASL11B (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
T=0./0
(KOREAN)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489180221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:52865516
(GRCh38)
4:53731683
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52865515:A:G
- Gene:
- RASL11B (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1489147349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:52865097
(GRCh38)
4:53731264
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52865096:G:C
- Gene:
- RASL11B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1488854697 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:52864527
(GRCh38)
4:53730694
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52864526:T:G
- Gene:
- RASL11B (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1488792107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:52866169
(GRCh38)
4:53732336
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52866168:A:G
- Gene:
- RASL11B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488586778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:52863007
(GRCh38)
4:53729174
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52863006:G:A
- Gene:
- RASL11B (Varview), LOC124900700 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_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.
rs1488392459 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 4:52865855
(GRCh38)
4:53732023
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52865855:GG:GGG
- Gene:
- RASL11B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
14.
rs1487509863 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAA>-
[Show Flanks]
- Chromosome:
- 4:52864139
(GRCh38)
4:53730306
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52864136:AAAGAA:AA
- Gene:
- RASL11B (Varview), LOC124900700 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
16.
rs1485900366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 4:52862294
(GRCh38)
4:53728461
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52862293:C:A,NC_000004.12:52862293:C:G,NC_000004.12:52862293:C:T
- Gene:
- RASL11B (Varview), LOC124900700 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
T=0.000035/1
(TOMMO)
G=0.000223/1
(Estonian)
- HGVS:
17.
rs1485646466 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:52863691
(GRCh38)
4:53729858
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52863690:C:T
- Gene:
- RASL11B (Varview), LOC124900700 (Varview)
- Functional Consequence:
- intron_variant,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:
18.
rs1485549167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:52866190
(GRCh38)
4:53732357
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52866189:G:C
- Gene:
- RASL11B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
19.
rs1485292518 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:52862107
(GRCh38)
4:53728274
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52862106:C:T
- Gene:
- RASL11B (Varview), LOC124900700 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1485184398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 4:52866392
(GRCh38)
4:53732559
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52866391:C:G,NC_000004.12:52866391:C:T
- Gene:
- RASL11B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: