Links from Gene
Items: 1 to 20 of 1361
1.
rs1491337151 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 12:116535756
(GRCh38)
12:116973562
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116535756::G
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.00008/1
(
ALFA)
G=0.00008/6
(GnomAD)
- HGVS:
2.
rs1491242358 has merged into rs1210890017 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:116535766
(GRCh38)
12:116973571
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:116535755:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000012.12:g.116535766_116535774del, NC_000012.12:g.116535767_116535774del, NC_000012.12:g.116535768_116535774del, NC_000012.12:g.116535769_116535774del, NC_000012.12:g.116535772_116535774del, NC_000012.12:g.116535773_116535774del, NC_000012.12:g.116535774del, NC_000012.12:g.116535774dup, NC_000012.12:g.116535773_116535774dup, NC_000012.12:g.116535772_116535774dup, NC_000012.12:g.116535771_116535774dup, NC_000012.12:g.116535770_116535774dup, NC_000012.12:g.116535769_116535774dup, NC_000012.12:g.116535768_116535774dup, NC_000012.12:g.116535774_116535775insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.116535774_116535775insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.116973571_116973579del, NC_000012.11:g.116973572_116973579del, NC_000012.11:g.116973573_116973579del, NC_000012.11:g.116973574_116973579del, NC_000012.11:g.116973577_116973579del, NC_000012.11:g.116973578_116973579del, NC_000012.11:g.116973579del, NC_000012.11:g.116973579dup, NC_000012.11:g.116973578_116973579dup, NC_000012.11:g.116973577_116973579dup, NC_000012.11:g.116973576_116973579dup, NC_000012.11:g.116973575_116973579dup, NC_000012.11:g.116973574_116973579dup, NC_000012.11:g.116973573_116973579dup, NC_000012.11:g.116973579_116973580insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.116973579_116973580insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1490674930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:116532085
(GRCh38)
12:116969890
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116532084:T:G
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490067907 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTT>-
[Show Flanks]
- Chromosome:
- 12:116536766
(GRCh38)
12:116974571
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116536754:TTTATTTATTTATTT:TTTATTTATTT
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTATTTATTT=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000021/3
(GnomAD)
-=0.000156/1
(1000Genomes)
- HGVS:
5.
rs1489597147 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:116532884
(GRCh38)
12:116970689
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116532883:G:A
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
7.
rs1487845691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:116531535
(GRCh38)
12:116969340
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116531534:A:T
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1487493160 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 12:116535554
(GRCh38)
12:116973359
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116535553:T:A,NC_000012.12:116535553:T:G
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00018/3
(TOMMO)
- HGVS:
9.
rs1486648752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:116534193
(GRCh38)
12:116971998
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116534192:C:T
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1486580055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:116531430
(GRCh38)
12:116969235
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116531429:T:C
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1486550028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 12:116533841
(GRCh38)
12:116971646
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116533840:C:A,NC_000012.12:116533840:C:G
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00051/6
(
ALFA)
A=0.00005/2
(GnomAD)
G=0.00268/73
(TOMMO)
G=0.05413/156
(KOREAN)
- HGVS:
12.
rs1486083556 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 12:116532397
(GRCh38)
12:116970202
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116532396:C:A,NC_000012.12:116532396:C:G
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000022/3
(GnomAD)
C=0.5/1
(SGDP_PRJ)
- HGVS:
13.
rs1484126775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:116533282
(GRCh38)
12:116971087
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116533281:C:T
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1483474673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:116536243
(GRCh38)
12:116974048
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116536242:A:G
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1483307362 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:116533518
(GRCh38)
12:116971323
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116533517:T:C
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000034/9
(TOPMED)
C=0.000043/6
(GnomAD)
C=0.000468/3
(1000Genomes)
- HGVS:
17.
rs1482825401 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:116535408
(GRCh38)
12:116973213
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116535407:G:A
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000022/3
(GnomAD)
A=0.000034/9
(TOPMED)
- HGVS:
18.
rs1481164660 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:116535355
(GRCh38)
12:116973161
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116535355::C
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1479986684 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 12:116536798
(GRCh38)
12:116974603
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116536797:CCC:CC
- Gene:
- LINC00173 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS: