Links from Gene
Items: 1 to 20 of 7728
1.
rs1491579848 has merged into rs1477936702 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGG>-,GG,GGGG,GGGGG,GGGGGG
[Show Flanks]
- Chromosome:
- 11:65239583
(GRCh38)
11:65007054
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65239577:GGGGGGGG:GGGGG,NC_000011.10:65239577:GGGGGGGG:GGGGGGG,NC_000011.10:65239577:GGGGGGGG:GGGGGGGGG,NC_000011.10:65239577:GGGGGGGG:GGGGGGGGGG,NC_000011.10:65239577:GGGGGGGG:GGGGGGGGGGG
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGG=0./0
(
ALFA)
G=0.00024/2
(TOMMO)
- HGVS:
2.
rs1491567032 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCTT,TCTTTCTT
[Show Flanks]
- Chromosome:
- 11:65230096
(GRCh38)
11:64997568
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65230096:CTT:CTTTCTT,NC_000011.10:65230096:CTT:CTTTCTTTCTT
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTTTCTTTCTT=0./0
(
ALFA)
CTTTCTTT=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491506828 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TATATATAT
[Show Flanks]
- Chromosome:
- 11:65234486
(GRCh38)
11:65001958
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65234486:TATATATAT:TATATATATTATATATAT
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATATATATTATATATAT=0./0
(
ALFA)
TATATATAT=0.00016/1
(GnomAD)
- HGVS:
4.
rs1491413658 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 11:65239577
(GRCh38)
11:65007048
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65239576:CG:
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00025/3
(
ALFA)
-=0.00006/3
(GnomAD)
-=0.00035/8
(TOMMO)
- HGVS:
5.
rs1491387037 has merged into rs869162382 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:65224375
(GRCh38)
11:64991846
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.65224375_65224388del, NC_000011.10:g.65224377_65224388del, NC_000011.10:g.65224380_65224388del, NC_000011.10:g.65224383_65224388del, NC_000011.10:g.65224384_65224388del, NC_000011.10:g.65224385_65224388del, NC_000011.10:g.65224386_65224388del, NC_000011.10:g.65224387_65224388del, NC_000011.10:g.65224388del, NC_000011.10:g.65224388dup, NC_000011.10:g.65224387_65224388dup, NC_000011.10:g.65224386_65224388dup, NC_000011.10:g.65224388_65224389insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.64991846_64991859del, NC_000011.9:g.64991848_64991859del, NC_000011.9:g.64991851_64991859del, NC_000011.9:g.64991854_64991859del, NC_000011.9:g.64991855_64991859del, NC_000011.9:g.64991856_64991859del, NC_000011.9:g.64991857_64991859del, NC_000011.9:g.64991858_64991859del, NC_000011.9:g.64991859del, NC_000011.9:g.64991859dup, NC_000011.9:g.64991858_64991859dup, NC_000011.9:g.64991857_64991859dup, NC_000011.9:g.64991859_64991860insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
6.
rs1491344084 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 11:65224365
(GRCh38)
11:64991836
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65224364:CA:
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00152/18
(
ALFA)
-=0.00093/23
(GnomAD)
-=0.00233/63
(TOMMO)
- HGVS:
7.
rs1491282272 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 11:65230096
(GRCh38)
11:64997567
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65230095:CC:
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.015898/71
(
ALFA)
-=0.000153/3
(TOMMO)
-=0.000546/1
(Korea1K)
-=0.017718/2328
(GnomAD)
- HGVS:
8.
rs1491058764 has merged into rs67392513 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACAC>-,AC,ACAC,ACACACAC,ACACACACAC,ACACACACACAC
[Show Flanks]
- Chromosome:
- 11:65226924
(GRCh38)
11:64994408
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65226909:ACACACACACACACACACAC:ACACACACACACAC,NC_000011.10:65226909:ACACACACACACACACACAC:ACACACACACACACAC,NC_000011.10:65226909:ACACACACACACACACACAC:ACACACACACACACACAC,NC_000011.10:65226909:ACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000011.10:65226909:ACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000011.10:65226909:ACACACACACACACACACAC:ACACACACACACACACACACACACAC
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACAC=0./0
(
ALFA)
ACAC=0.0018/9
(1000Genomes)
AC=0.065/39
(NorthernSweden)
- HGVS:
NC_000011.10:g.65226910AC[7], NC_000011.10:g.65226910AC[8], NC_000011.10:g.65226910AC[9], NC_000011.10:g.65226910AC[11], NC_000011.10:g.65226910AC[12], NC_000011.10:g.65226910AC[13], NC_000011.9:g.64994394T>C, NC_000011.9:g.64994394_64994399del, NC_000011.9:g.64994394_64994397del, NC_000011.9:g.64994394_64994395del, NC_000011.9:g.64994394delinsCAC, NC_000011.9:g.64994394delinsCACAC, NC_000011.9:g.64994394delinsCACACAC
9.
rs1490884623 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAGA
[Show Flanks]
- Chromosome:
- 11:65234230
(GRCh38)
11:65001702
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65234230:ATAGA:ATAGATAGA
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAGATAGA=0./0
(
ALFA)
ATAG=0.000011/3
(TOPMED)
ATAG=0.000014/2
(GnomAD)
- HGVS:
10.
rs1490843244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:65224798
(GRCh38)
11:64992269
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65224797:A:C
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000084/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490831502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:65216892
(GRCh38)
11:64984363
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65216891:A:G
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00834/24
(KOREAN)
- HGVS:
12.
rs1490788433 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 11:65240635
(GRCh38)
11:65008106
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65240634:CC:C
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490696364 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:65242941
(GRCh38)
11:65010412
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65242940:T:C
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
14.
rs1490687637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:65221856
(GRCh38)
11:64989327
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65221855:C:G,NC_000011.10:65221855:C:T
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000506/6
(
ALFA)
T=0.000352/39
(GnomAD)
T=0.000937/6
(1000Genomes)
T=0.001452/24
(TOMMO)
T=0.003432/10
(KOREAN)
- HGVS:
15.
rs1490654495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:65226316
(GRCh38)
11:64993787
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65226315:A:T
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS:
16.
rs1490554003 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 11:65240465
(GRCh38)
11:65007936
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65240464:G:
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490308106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:65242766
(GRCh38)
11:65010237
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65242765:G:A,NC_000011.10:65242765:G:T
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000098/26
(TOPMED)
T=0.000156/1
(1000Genomes)
T=0.004034/68
(TOMMO)
T=0.00616/18
(KOREAN)
T=0.009825/18
(Korea1K)
- HGVS:
18.
rs1489888213 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 11:65218853
(GRCh38)
11:64986324
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65218852:T:C,NC_000011.10:65218852:T:G
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489533593 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CC
[Show Flanks]
- Chromosome:
- 11:65236781
(GRCh38)
11:65004253
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65236781:CCC:CCCCC
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
CC=0.000012/3
(GnomAD_exomes)
- HGVS:
20.
rs1489484648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:65213757
(GRCh38)
11:64981228
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65213756:G:A
- Gene:
- SLC22A20P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
A=0.000106/2
(TOMMO)
- HGVS: