Links from Gene
Items: 1 to 20 of 2339
1.
rs1491438953 has merged into rs556121607 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:126096663
(GRCh38)
12:126581209
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:126096650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.2426/1215
(1000Genomes)
- HGVS:
NC_000012.12:g.126096663_126096665del, NC_000012.12:g.126096664_126096665del, NC_000012.12:g.126096665del, NC_000012.12:g.126096665dup, NC_000012.12:g.126096664_126096665dup, NC_000012.12:g.126096663_126096665dup, NC_000012.12:g.126096662_126096665dup, NC_000012.12:g.126096661_126096665dup, NC_000012.12:g.126096657_126096665dup, NC_000012.11:g.126581209_126581211del, NC_000012.11:g.126581210_126581211del, NC_000012.11:g.126581211del, NC_000012.11:g.126581211dup, NC_000012.11:g.126581210_126581211dup, NC_000012.11:g.126581209_126581211dup, NC_000012.11:g.126581208_126581211dup, NC_000012.11:g.126581207_126581211dup, NC_000012.11:g.126581203_126581211dup
3.
rs1491049926 has merged into rs72375282 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT
[Show Flanks]
- Chromosome:
- 12:126097630
(GRCh38)
12:126582176
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126097616:TATATATATATATATAT:TATATATATATAT,NC_000012.12:126097616:TATATATATATATATAT:TATATATATATATAT,NC_000012.12:126097616:TATATATATATATATAT:TATATATATATATATATAT,NC_000012.12:126097616:TATATATATATATATAT:TATATATATATATATATATAT,NC_000012.12:126097616:TATATATATATATATAT:TATATATATATATATATATATAT
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATATATATAT=0./0
(
ALFA)
-=0.24718/65426
(TOPMED)
- HGVS:
4.
rs1490901836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:126104183
(GRCh38)
12:126588729
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126104182:G:A
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
5.
rs1490831595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:126097890
(GRCh38)
12:126582436
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126097889:T:C
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490778496 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:126096916
(GRCh38)
12:126581462
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126096915:C:T
- Gene:
- LINC02359 (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:
8.
rs1490340665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:126098335
(GRCh38)
12:126582881
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126098334:A:G
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490268469 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 12:126097478
(GRCh38)
12:126582024
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126097477:T:A,NC_000012.12:126097477:T:C
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000036/5
(GnomAD)
C=0.000053/14
(TOPMED)
- HGVS:
10.
rs1489988811 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 12:126100948
(GRCh38)
12:126585495
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126100948:A:AA
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000287/35
(GnomAD)
- HGVS:
11.
rs1489829166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:126098822
(GRCh38)
12:126583368
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126098821:A:G
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1489276673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:126095680
(GRCh38)
12:126580226
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126095679:C:G
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1489268817 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 12:126104345
(GRCh38)
12:126588891
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126104341:AGAGA:AGA
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGA=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
14.
rs1489236879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:126095077
(GRCh38)
12:126579623
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126095076:G:A
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1488879138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:126099291
(GRCh38)
12:126583837
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126099290:A:T
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000034/9
(TOPMED)
- HGVS:
16.
rs1488316761 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:126100171
(GRCh38)
12:126584717
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126100170:T:C
- Gene:
- LINC02359 (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:
17.
rs1488298628 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:126094448
(GRCh38)
12:126578994
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126094447:C:A
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1488268318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:126099172
(GRCh38)
12:126583718
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126099171:C:A
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
19.
rs1488238090 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:126098934
(GRCh38)
12:126583480
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126098933:A:G
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1487898119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:126099836
(GRCh38)
12:126584382
(GRCh37)
- Canonical SPDI:
- NC_000012.12:126099835:A:G
- Gene:
- LINC02359 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: