Links from Gene
Items: 1 to 20 of 1155
1.
rs1491222751 has merged into rs34135892 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:12356022
(GRCh38)
12:12508956
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12356013:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.12356022_12356035del, NC_000012.12:g.12356024_12356035del, NC_000012.12:g.12356026_12356035del, NC_000012.12:g.12356027_12356035del, NC_000012.12:g.12356028_12356035del, NC_000012.12:g.12356029_12356035del, NC_000012.12:g.12356030_12356035del, NC_000012.12:g.12356031_12356035del, NC_000012.12:g.12356032_12356035del, NC_000012.12:g.12356033_12356035del, NC_000012.12:g.12356034_12356035del, NC_000012.12:g.12356035del, NC_000012.12:g.12356035dup, NC_000012.12:g.12356034_12356035dup, NC_000012.12:g.12356033_12356035dup, NC_000012.12:g.12356032_12356035dup, NC_000012.12:g.12356031_12356035dup, NC_000012.12:g.12356030_12356035dup, NC_000012.12:g.12356029_12356035dup, NC_000012.12:g.12356028_12356035dup, NC_000012.11:g.12508956_12508969del, NC_000012.11:g.12508958_12508969del, NC_000012.11:g.12508960_12508969del, NC_000012.11:g.12508961_12508969del, NC_000012.11:g.12508962_12508969del, NC_000012.11:g.12508963_12508969del, NC_000012.11:g.12508964_12508969del, NC_000012.11:g.12508965_12508969del, NC_000012.11:g.12508966_12508969del, NC_000012.11:g.12508967_12508969del, NC_000012.11:g.12508968_12508969del, NC_000012.11:g.12508969del, NC_000012.11:g.12508969dup, NC_000012.11:g.12508968_12508969dup, NC_000012.11:g.12508967_12508969dup, NC_000012.11:g.12508966_12508969dup, NC_000012.11:g.12508965_12508969dup, NC_000012.11:g.12508964_12508969dup, NC_000012.11:g.12508963_12508969dup, NC_000012.11:g.12508962_12508969dup, NW_011332696.1:g.325020_325033del, NW_011332696.1:g.325022_325033del, NW_011332696.1:g.325024_325033del, NW_011332696.1:g.325025_325033del, NW_011332696.1:g.325026_325033del, NW_011332696.1:g.325027_325033del, NW_011332696.1:g.325028_325033del, NW_011332696.1:g.325029_325033del, NW_011332696.1:g.325030_325033del, NW_011332696.1:g.325031_325033del, NW_011332696.1:g.325032_325033del, NW_011332696.1:g.325033del, NW_011332696.1:g.325033dup, NW_011332696.1:g.325032_325033dup, NW_011332696.1:g.325031_325033dup, NW_011332696.1:g.325030_325033dup, NW_011332696.1:g.325029_325033dup, NW_011332696.1:g.325028_325033dup, NW_011332696.1:g.325027_325033dup, NW_011332696.1:g.325026_325033dup, NR_024061.1:n.919_932del, NR_024061.1:n.921_932del, NR_024061.1:n.923_932del, NR_024061.1:n.924_932del, NR_024061.1:n.925_932del, NR_024061.1:n.926_932del, NR_024061.1:n.927_932del, NR_024061.1:n.928_932del, NR_024061.1:n.929_932del, NR_024061.1:n.930_932del, NR_024061.1:n.931_932del, NR_024061.1:n.932del, NR_024061.1:n.932dup, NR_024061.1:n.931_932dup, NR_024061.1:n.930_932dup, NR_024061.1:n.929_932dup, NR_024061.1:n.928_932dup, NR_024061.1:n.927_932dup, NR_024061.1:n.926_932dup, NR_024061.1:n.925_932dup
2.
rs1490981391 has merged into rs1473067393 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,TTTT
[Show Flanks]
- Chromosome:
- 12:12358196
(GRCh38)
12:12511130
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12358191:TTTTTTT:TTTT,NC_000012.12:12358191:TTTTTTT:TTTTTTTT
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
3.
rs1490157435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:12358586
(GRCh38)
12:12511520
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12358585:G:T
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
- HGVS:
4.
rs1489319706 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:12357137
(GRCh38)
12:12510071
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12357136:G:A
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- HGVS:
NC_000012.12:g.12357137G>A, NC_000012.11:g.12510071G>A, NW_011332696.1:g.326135G>A, NM_058169.6:c.-315G>A, NM_058169.5:c.-315G>A, NM_058169.4:c.-315G>A, NM_058169.3:c.-315G>A, XM_011520551.3:c.-47G>A, XM_011520551.2:c.-47G>A, XM_011520551.1:c.-47G>A, XM_011520553.3:c.-315G>A, XM_011520553.2:c.-315G>A, XM_011520553.1:c.-315G>A, NM_001330356.2:c.-315G>A, NM_001330356.1:c.-315G>A
5.
rs1488565525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:12356254
(GRCh38)
12:12509188
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12356253:G:A,NC_000012.12:12356253:G:C
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1486187917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:12355185
(GRCh38)
12:12508119
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12355184:G:A,NC_000012.12:12355184:G:C
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00016/1
(1000Genomes)
- HGVS:
7.
rs1485496374 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 12:12354950
(GRCh38)
12:12507884
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12354949:G:
- Gene:
- LOH12CR2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000023/3
(GnomAD)
- HGVS:
8.
rs1485485141 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 12:12356035
(GRCh38)
12:12508969
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12356034:TG:
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00076/9
(
ALFA)
-=0.00032/9
(TOMMO)
- HGVS:
9.
rs1485157771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:12356415
(GRCh38)
12:12509349
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12356414:C:T
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000447/2
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000446/2
(Estonian)
- HGVS:
10.
rs1484836088 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:12355355
(GRCh38)
12:12508289
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12355354:T:C
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
11.
rs1484679605 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:12357654
(GRCh38)
12:12510588
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12357653:A:G
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
12.
rs1484501260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 12:12355593
(GRCh38)
12:12508527
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12355592:T:A,NC_000012.12:12355592:T:C
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000023/6
(TOPMED)
A=0.000342/1
(KOREAN)
- HGVS:
14.
rs1483818561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:12356083
(GRCh38)
12:12509017
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12356082:T:C
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1483797506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:12356997
(GRCh38)
12:12509931
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12356996:G:T
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000015/2
(GnomAD_exomes)
- HGVS:
16.
rs1481577834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 12:12357853
(GRCh38)
12:12510787
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12357852:T:A,NC_000012.12:12357852:T:C
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
17.
rs1481379799 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 12:12355510
(GRCh38)
12:12508444
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12355509:GGGG:GGG
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
18.
rs1479680625 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:12355070
(GRCh38)
12:12508004
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12355069:C:T
- Gene:
- LOH12CR2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1479094420 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:12358995
(GRCh38)
12:12511929
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12358994:A:T
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1478983816 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 12:12355976
(GRCh38)
12:12508911
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12355976:AAAAA:AAAAAA
- Gene:
- BORCS5 (Varview), LOH12CR2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
A=0.000071/2
(TOMMO)
- HGVS: