Links from Gene
Items: 1 to 20 of 833
1.
rs1491197702 has merged into rs35860148 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:119599989
(GRCh38)
1:120142612
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00622 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0.0007/7
(
ALFA)
-=0.0491/182
(TWINSUK)
-=0.0568/219
(ALSPAC)
- HGVS:
NC_000001.11:g.119599989_119599991del, NC_000001.11:g.119599990_119599991del, NC_000001.11:g.119599991del, NC_000001.11:g.119599991dup, NC_000001.11:g.119599990_119599991dup, NC_000001.11:g.119599989_119599991dup, NC_000001.11:g.119599988_119599991dup, NC_000001.11:g.119599984_119599991dup, NC_000001.10:g.120142612_120142614del, NC_000001.10:g.120142613_120142614del, NC_000001.10:g.120142614del, NC_000001.10:g.120142614dup, NC_000001.10:g.120142613_120142614dup, NC_000001.10:g.120142612_120142614dup, NC_000001.10:g.120142611_120142614dup, NC_000001.10:g.120142607_120142614dup
2.
rs1490902319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:119600945
(GRCh38)
1:120143568
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119600944:A:C
- Gene:
- LINC00622 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
3.
rs1490876181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:119600084
(GRCh38)
1:120142707
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119600083:C:T
- Gene:
- LINC00622 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000034/9
(TOPMED)
- HGVS:
4.
rs1490056695 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 1:119599359
(GRCh38)
1:120141982
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119599358:A:G,NC_000001.11:119599358:A:T
- Gene:
- LINC00622 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000025/3
(GnomAD)
T=0.000156/1
(1000Genomes)
T=0.000212/6
(TOMMO)
- HGVS:
5.
rs1489774268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:119598092
(GRCh38)
1:120140715
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119598091:T:C
- Gene:
- LINC00622 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1488682029 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:119598434
(GRCh38)
1:120141057
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119598433:T:C
- Gene:
- LINC00622 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
- HGVS:
7.
rs1487202815 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:119599374
(GRCh38)
1:120141997
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119599373:C:G
- Gene:
- LINC00622 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1486709045 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:119598164
(GRCh38)
1:120140787
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119598163:T:C,NC_000001.11:119598163:T:G
- Gene:
- LINC00622 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
T=0.5/1
(SGDP_PRJ)
- HGVS:
9.
rs1486407661 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:119597528
(GRCh38)
1:120140151
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119597527:GGG:GG
- Gene:
- LINC00622 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
11.
rs1483996158 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CTTAGCCCT
[Show Flanks]
- Chromosome:
- 1:119597536
(GRCh38)
1:120140160
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119597536::CTTAGCCCT
- Gene:
- LINC00622 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTTAGCCCT=0./0
(
ALFA)
CTTAGCCCT=0.000004/1
(TOPMED)
CTTAGCCCT=0.000021/3
(GnomAD)
- HGVS:
12.
rs1483184517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:119599612
(GRCh38)
1:120142235
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119599611:A:G
- Gene:
- LINC00622 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1482206110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 1:119599983
(GRCh38)
1:120142606
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119599982:T:A,NC_000001.11:119599982:T:G
- Gene:
- LINC00622 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1480084582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:119599491
(GRCh38)
1:120142114
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119599490:C:T
- Gene:
- LINC00622 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000008/1
(GnomAD)
- HGVS:
18.
rs1479983977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:119597974
(GRCh38)
1:120140597
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119597973:A:G
- Gene:
- LINC00622 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
19.
rs1479533638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:119601049
(GRCh38)
1:120143672
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119601048:T:A
- Gene:
- LINC00622 (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:
20.
rs1479320969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:119598962
(GRCh38)
1:120141585
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119598961:C:G
- Gene:
- LINC00622 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: