Links from Gene
Items: 1 to 20 of 4435
1.
rs1491503375 has merged into rs770302763 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:64854565
(GRCh38)
2:65081699
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64854555:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:64854555:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:64854555:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:64854555:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:64854555:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:64854555:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:64854555:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
T=0.00021/4
(TOMMO)
TTTTTTTTT=0.43204/1602
(TWINSUK)
TTTTTTTTT=0.44733/1724
(ALSPAC)
- HGVS:
NC_000002.12:g.64854565_64854566del, NC_000002.12:g.64854566del, NC_000002.12:g.64854566dup, NC_000002.12:g.64854565_64854566dup, NC_000002.12:g.64854561_64854566dup, NC_000002.12:g.64854558_64854566dup, NC_000002.12:g.64854557_64854566dup, NC_000002.11:g.65081699_65081700del, NC_000002.11:g.65081700del, NC_000002.11:g.65081700dup, NC_000002.11:g.65081699_65081700dup, NC_000002.11:g.65081695_65081700dup, NC_000002.11:g.65081692_65081700dup, NC_000002.11:g.65081691_65081700dup
2.
rs1491491589 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 2:64856304
(GRCh38)
2:65083438
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64856303:TA:
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1491332699 has merged into rs70937374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 2:64854495
(GRCh38)
2:65081629
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64854485:AAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:64854485:AAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:64854485:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:64854485:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:64854485:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:64854485:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
A=0.0134/67
(1000Genomes)
- HGVS:
NC_000002.12:g.64854495_64854497del, NC_000002.12:g.64854496_64854497del, NC_000002.12:g.64854497del, NC_000002.12:g.64854497dup, NC_000002.12:g.64854496_64854497dup, NC_000002.12:g.64854495_64854497dup, NC_000002.11:g.65081629_65081631del, NC_000002.11:g.65081630_65081631del, NC_000002.11:g.65081631del, NC_000002.11:g.65081631dup, NC_000002.11:g.65081630_65081631dup, NC_000002.11:g.65081629_65081631dup
5.
rs1491125160 has merged into rs111597526 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA
[Show Flanks]
- Chromosome:
- 2:64856310
(GRCh38)
2:65083444
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64856304:AAAAAAAAA:AAAAA,NC_000002.12:64856304:AAAAAAAAA:AAAAAA,NC_000002.12:64856304:AAAAAAAAA:AAAAAAA,NC_000002.12:64856304:AAAAAAAAA:AAAAAAAA,NC_000002.12:64856304:AAAAAAAAA:AAAAAAAAAA
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.00167/1
(NorthernSweden)
A=0.00218/4
(Korea1K)
- HGVS:
6.
rs1491123004 has merged into rs57808343 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACACACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 2:64864644
(GRCh38)
2:65091778
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACA=0./0
(
ALFA)
ACACACACACACAC=0.5/20
(GENOME_DK)
- HGVS:
NC_000002.12:g.64864628CA[8], NC_000002.12:g.64864628CA[9], NC_000002.12:g.64864628CA[11], NC_000002.12:g.64864628CA[12], NC_000002.12:g.64864628CA[13], NC_000002.12:g.64864628CA[14], NC_000002.12:g.64864628CA[15], NC_000002.12:g.64864628CA[16], NC_000002.12:g.64864628CA[17], NC_000002.12:g.64864628CA[18], NC_000002.12:g.64864628CA[19], NC_000002.12:g.64864628CA[20], NC_000002.12:g.64864628CA[21], NC_000002.12:g.64864628CA[22], NC_000002.12:g.64864628CA[23], NC_000002.12:g.64864628CA[24], NC_000002.12:g.64864628CA[25], NC_000002.12:g.64864628CA[27], NC_000002.12:g.64864628CA[28], NC_000002.12:g.64864628CA[29], NC_000002.12:g.64864628CA[30], NC_000002.12:g.64864628CA[31], NC_000002.12:g.64864628CA[32], NC_000002.12:g.64864628CA[33], NC_000002.12:g.64864628CA[34], NC_000002.12:g.64864628CA[35], NC_000002.12:g.64864628CA[36], NC_000002.11:g.65091762CA[8], NC_000002.11:g.65091762CA[9], NC_000002.11:g.65091762CA[11], NC_000002.11:g.65091762CA[12], NC_000002.11:g.65091762CA[13], NC_000002.11:g.65091762CA[14], NC_000002.11:g.65091762CA[15], NC_000002.11:g.65091762CA[16], NC_000002.11:g.65091762CA[17], NC_000002.11:g.65091762CA[18], NC_000002.11:g.65091762CA[19], NC_000002.11:g.65091762CA[20], NC_000002.11:g.65091762CA[21], NC_000002.11:g.65091762CA[22], NC_000002.11:g.65091762CA[23], NC_000002.11:g.65091762CA[24], NC_000002.11:g.65091762CA[25], NC_000002.11:g.65091762CA[27], NC_000002.11:g.65091762CA[28], NC_000002.11:g.65091762CA[29], NC_000002.11:g.65091762CA[30], NC_000002.11:g.65091762CA[31], NC_000002.11:g.65091762CA[32], NC_000002.11:g.65091762CA[33], NC_000002.11:g.65091762CA[34], NC_000002.11:g.65091762CA[35], NC_000002.11:g.65091762CA[36]
7.
rs1491047847 has merged into rs36022450 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 2:64864938
(GRCh38)
2:65092072
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64864925:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:64864925:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:64864925:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:64864925:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:64864925:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:64864925:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0.0003/2
(
ALFA)
-=0.35/14
(GENOME_DK)
-=0.4623/2315
(1000Genomes)
- HGVS:
NC_000002.12:g.64864938_64864939del, NC_000002.12:g.64864939del, NC_000002.12:g.64864939dup, NC_000002.12:g.64864938_64864939dup, NC_000002.12:g.64864937_64864939dup, NC_000002.12:g.64864935_64864939dup, NC_000002.11:g.65092072_65092073del, NC_000002.11:g.65092073del, NC_000002.11:g.65092073dup, NC_000002.11:g.65092072_65092073dup, NC_000002.11:g.65092071_65092073dup, NC_000002.11:g.65092069_65092073dup
8.
rs1491036228 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CACACAGA,CACAGA,CAGA
[Show Flanks]
- Chromosome:
- 2:64864678
(GRCh38)
2:65091813
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64864678:A:ACACACAGA,NC_000002.12:64864678:A:ACACAGA,NC_000002.12:64864678:A:ACAGA
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACAGA=0./0
(
ALFA)
ACAG=0.000004/1
(TOPMED)
- HGVS:
9.
rs1491007413 has merged into rs796346896 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 2:64865090
(GRCh38)
2:65092224
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64865089:CCCCCCC:CCCCCC,NC_000002.12:64865089:CCCCCCC:CCCCCCCC
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCC=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
11.
rs1490849834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:64846807
(GRCh38)
2:65073941
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64846806:C:T
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
12.
rs1490440333 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:64851267
(GRCh38)
2:65078401
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64851266:G:C
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490407428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:64865157
(GRCh38)
2:65092291
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64865156:G:A
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490105097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:64852451
(GRCh38)
2:65079585
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64852450:G:A,NC_000002.12:64852450:G:C
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490100391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:64852073
(GRCh38)
2:65079207
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64852072:G:A
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490053917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:64850411
(GRCh38)
2:65077545
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64850410:C:A
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
17.
rs1489992123 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGCAGCTGCTGGCGG
[Show Flanks]
- Chromosome:
- 2:64859445
(GRCh38)
2:65086580
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64859445:GGCGGGGCAGCTGCTGGCGG:GGCGGGGCAGCTGCTGGCGGGGCAGCTGCTGGCGG
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGCGGGGCAGCTGCTGGCGGGGCAGCTGCTGGCGG=0./0
(
ALFA)
GGCGGGGCAGCTGCT=0.000004/1
(TOPMED)
GGCGGGGCAGCTGCT=0.000014/2
(GnomAD)
- HGVS:
19.
rs1489531817 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 2:64860017
(GRCh38)
2:65087152
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64860017:A:AA
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
20.
rs1489486972 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:64846782
(GRCh38)
2:65073916
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64846781:A:T
- Gene:
- LINC01800 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: