Links from Gene
Items: 1 to 20 of 25952
1.
rs1491587352 has merged into rs34893323 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:68307280
(GRCh38)
6:69017172
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68307267:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:68307267:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:68307267:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:68307267:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:68307267:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:68307267:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:68307267:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68307267:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68307267:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3413/1709
(1000Genomes)
- HGVS:
NC_000006.12:g.68307280_68307283del, NC_000006.12:g.68307281_68307283del, NC_000006.12:g.68307282_68307283del, NC_000006.12:g.68307283del, NC_000006.12:g.68307283dup, NC_000006.12:g.68307282_68307283dup, NC_000006.12:g.68307279_68307283dup, NC_000006.12:g.68307277_68307283dup, NC_000006.12:g.68307274_68307283dup, NC_000006.11:g.69017172_69017175del, NC_000006.11:g.69017173_69017175del, NC_000006.11:g.69017174_69017175del, NC_000006.11:g.69017175del, NC_000006.11:g.69017175dup, NC_000006.11:g.69017174_69017175dup, NC_000006.11:g.69017171_69017175dup, NC_000006.11:g.69017169_69017175dup, NC_000006.11:g.69017166_69017175dup, NT_187554.1:g.57220_57223del, NT_187554.1:g.57221_57223del, NT_187554.1:g.57222_57223del, NT_187554.1:g.57223del, NT_187554.1:g.57223dup, NT_187554.1:g.57222_57223dup, NT_187554.1:g.57219_57223dup, NT_187554.1:g.57217_57223dup, NT_187554.1:g.57214_57223dup
2.
rs1491581416 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 6:68234185
(GRCh38)
6:68944077
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68234184:TT:
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000036/4
(GnomAD)
- HGVS:
3.
rs1491575120 has merged into rs59862151 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:68243880
(GRCh38)
6:68953772
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68243871:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.68243880_68243899del, NC_000006.12:g.68243883_68243899del, NC_000006.12:g.68243884_68243899del, NC_000006.12:g.68243887_68243899del, NC_000006.12:g.68243888_68243899del, NC_000006.12:g.68243889_68243899del, NC_000006.12:g.68243890_68243899del, NC_000006.12:g.68243891_68243899del, NC_000006.12:g.68243892_68243899del, NC_000006.12:g.68243893_68243899del, NC_000006.12:g.68243894_68243899del, NC_000006.12:g.68243895_68243899del, NC_000006.12:g.68243896_68243899del, NC_000006.12:g.68243897_68243899del, NC_000006.12:g.68243898_68243899del, NC_000006.12:g.68243899del, NC_000006.12:g.68243899dup, NC_000006.12:g.68243898_68243899dup, NC_000006.12:g.68243897_68243899dup, NC_000006.12:g.68243896_68243899dup, NC_000006.12:g.68243892_68243899dup, NC_000006.11:g.68953772_68953791del, NC_000006.11:g.68953775_68953791del, NC_000006.11:g.68953776_68953791del, NC_000006.11:g.68953779_68953791del, NC_000006.11:g.68953780_68953791del, NC_000006.11:g.68953781_68953791del, NC_000006.11:g.68953782_68953791del, NC_000006.11:g.68953783_68953791del, NC_000006.11:g.68953784_68953791del, NC_000006.11:g.68953785_68953791del, NC_000006.11:g.68953786_68953791del, NC_000006.11:g.68953787_68953791del, NC_000006.11:g.68953788_68953791del, NC_000006.11:g.68953789_68953791del, NC_000006.11:g.68953790_68953791del, NC_000006.11:g.68953791del, NC_000006.11:g.68953791dup, NC_000006.11:g.68953790_68953791dup, NC_000006.11:g.68953789_68953791dup, NC_000006.11:g.68953788_68953791dup, NC_000006.11:g.68953784_68953791dup
4.
rs1491564698 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGTGTGTGTG
[Show Flanks]
- Chromosome:
- 6:68294462
(GRCh38)
6:69004355
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68294462:GTGTGTGTG:GTGTGTGTGGGTGTGTGTG
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGTGTGTGGGTGTGTGTG=0./0
(
ALFA)
- HGVS:
6.
rs1491556610 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT,GTGT,GTGTGT,GTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 6:68294459
(GRCh38)
6:69004352
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68294459:T:TGT,NC_000006.12:68294459:T:TGTGT,NC_000006.12:68294459:T:TGTGTGT,NC_000006.12:68294459:T:TGTGTGTGTGTGT
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000006.12:g.68294460_68294461insGT, NC_000006.12:g.68294460_68294461insGTGT, NC_000006.12:g.68294461GT[3], NC_000006.12:g.68294461GT[6], NC_000006.11:g.69004352_69004353insGT, NC_000006.11:g.69004352_69004353insGTGT, NC_000006.11:g.69004353GT[3], NC_000006.11:g.69004353GT[6], NT_187554.1:g.44413_44414insGT, NT_187554.1:g.44413_44414insGTGT, NT_187554.1:g.44414GT[3], NT_187554.1:g.44414GT[6]
8.
rs1491525170 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 6:68285307
(GRCh38)
6:68995200
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68285307:TT:TTT
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000016/2
(GnomAD)
- HGVS:
9.
rs1491522221 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 6:68234161
(GRCh38)
6:68944053
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68234160:TT:
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00003/2
(GnomAD)
-=0.00004/1
(TOMMO)
- HGVS:
10.
rs1491507129 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 6:68324553
(GRCh38)
6:69034445
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68324551:TGT:T
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
11.
rs1491505500 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTA
[Show Flanks]
- Chromosome:
- 6:68269029
(GRCh38)
6:68978922
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68269029:TATTA:TATTATTA
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATTATTA=0./0
(
ALFA)
TAT=0.000015/4
(TOPMED)
TAT=0.000021/3
(GnomAD)
- HGVS:
13.
rs1491437638 has merged into rs145244508 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-,CACA,CACACA,CACACACA
[Show Flanks]
- Chromosome:
- 6:68315145
(GRCh38)
6:69025037
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68315131:ACACACACACACACA:ACACACACACACA,NC_000006.12:68315131:ACACACACACACACA:ACACACACACACACACA,NC_000006.12:68315131:ACACACACACACACA:ACACACACACACACACACA,NC_000006.12:68315131:ACACACACACACACA:ACACACACACACACACACACA
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACA=0./0
(
ALFA)
AC=0.08205/1375
(TOMMO)
AC=0.21466/1075
(1000Genomes)
AC=0.26152/261
(GoNL)
AC=0.375/15
(GENOME_DK)
- HGVS:
NC_000006.12:g.68315133CA[6], NC_000006.12:g.68315133CA[8], NC_000006.12:g.68315133CA[9], NC_000006.12:g.68315133CA[10], NC_000006.11:g.69025025CA[6], NC_000006.11:g.69025025CA[8], NC_000006.11:g.69025025CA[9], NC_000006.11:g.69025025CA[10], NT_187554.1:g.65073CA[6], NT_187554.1:g.65073CA[8], NT_187554.1:g.65073CA[9], NT_187554.1:g.65073CA[10]
14.
rs1491424247 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 6:68234193
(GRCh38)
6:68944085
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68234191:TGT:T
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000009/1
(GnomAD)
- HGVS:
15.
rs1491417118 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:68285307
(GRCh38)
6:68995199
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68285306:CT:
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000039/5
(GnomAD)
-=0.000057/15
(TOPMED)
- HGVS:
16.
rs1491300957 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:68269031
(GRCh38)
6:68978923
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68269028:ATAT:AT
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
17.
rs1491270474 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TATATATATA
[Show Flanks]
- Chromosome:
- 6:68234237
(GRCh38)
6:68944130
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68234237::TATATATATA
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATATATATA=0.0004/2
(
ALFA)
- HGVS:
18.
rs1491262581 has merged into rs34085813 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:68254646
(GRCh38)
6:68964538
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:68254634:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.3686/1846
(1000Genomes)
-=0.4053/1562
(ALSPAC)
- HGVS:
NC_000006.12:g.68254646_68254649del, NC_000006.12:g.68254647_68254649del, NC_000006.12:g.68254648_68254649del, NC_000006.12:g.68254649del, NC_000006.12:g.68254649dup, NC_000006.12:g.68254648_68254649dup, NC_000006.12:g.68254647_68254649dup, NC_000006.12:g.68254646_68254649dup, NC_000006.12:g.68254644_68254649dup, NC_000006.12:g.68254639_68254649dup, NC_000006.12:g.68254638_68254649dup, NC_000006.12:g.68254636_68254649dup, NC_000006.12:g.68254635_68254649dup, NC_000006.12:g.68254649_68254650insTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.68254649_68254650insTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.68254649_68254650insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.68254649_68254650insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.68964538_68964541del, NC_000006.11:g.68964539_68964541del, NC_000006.11:g.68964540_68964541del, NC_000006.11:g.68964541del, NC_000006.11:g.68964541dup, NC_000006.11:g.68964540_68964541dup, NC_000006.11:g.68964539_68964541dup, NC_000006.11:g.68964538_68964541dup, NC_000006.11:g.68964536_68964541dup, NC_000006.11:g.68964531_68964541dup, NC_000006.11:g.68964530_68964541dup, NC_000006.11:g.68964528_68964541dup, NC_000006.11:g.68964527_68964541dup, NC_000006.11:g.68964541_68964542insTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.68964541_68964542insTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.68964541_68964542insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.68964541_68964542insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
19.
rs1491247128 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 6:68299520
(GRCh38)
6:69009413
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68299520::T
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000029/4
(GnomAD)
- HGVS:
20.
rs1491230645 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAAAA
[Show Flanks]
- Chromosome:
- 6:68257528
(GRCh38)
6:68967421
(GRCh37)
- Canonical SPDI:
- NC_000006.12:68257528:AAAA:AAAAGAAAA
- Gene:
- LINC02549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAGAAAA=0./0
(
ALFA)
AAAAG=0.00012/8
(GnomAD)
- HGVS: