Links from Gene
Items: 1 to 20 of 35043
1.
rs1491585674 has merged into rs879295094 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGAAAGAGAGAGA,GAGAGA,GAGAGAGA,GAGAGAGAAAGAGA,GAGAGAGAGA,GAGAGAGAGAGAGA
[Show Flanks]
- Chromosome:
- 1:63177427
(GRCh38)
1:63643098
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63177425:AGA:A,NC_000001.11:63177425:AGA:AGAGAAAGAGAGAGA,NC_000001.11:63177425:AGA:AGAGAGA,NC_000001.11:63177425:AGA:AGAGAGAGA,NC_000001.11:63177425:AGA:AGAGAGAGAAAGAGA,NC_000001.11:63177425:AGA:AGAGAGAGAGA,NC_000001.11:63177425:AGA:AGAGAGAGAGAGAGA
- Gene:
- LINC00466 (Varview), LOC105378770 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGA=0./0
(
ALFA)
AGAG=0.000004/1
(TOPMED)
AGAG=0.000094/1
(TOMMO)
- HGVS:
NC_000001.11:g.63177427_63177428del, NC_000001.11:g.63177426_63177428AG[2]AAAGAGAGAGA[1], NC_000001.11:g.63177427GA[3], NC_000001.11:g.63177427GA[4], NC_000001.11:g.63177426_63177428AG[4]AAAGAGA[1], NC_000001.11:g.63177427GA[5], NC_000001.11:g.63177427GA[7], NC_000001.10:g.63643098_63643099del, NC_000001.10:g.63643097_63643099AG[2]AAAGAGAGAGA[1], NC_000001.10:g.63643098GA[3], NC_000001.10:g.63643098GA[4], NC_000001.10:g.63643097_63643099AG[4]AAAGAGA[1], NC_000001.10:g.63643098GA[5], NC_000001.10:g.63643098GA[7]
3.
rs1491575799 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 1:63201799
(GRCh38)
1:63667470
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63201798:AA:
- Gene:
- LINC00466 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491571469 has merged into rs5774644 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 1:63254884
(GRCh38)
1:63720555
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63254873:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:63254873:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:63254873:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:63254873:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:63254873:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:63254873:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- LINC00466 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.4447/1714
(ALSPAC)
-=0.4788/1708
(1000Genomes)
- HGVS:
NC_000001.11:g.63254884_63254888del, NC_000001.11:g.63254886_63254888del, NC_000001.11:g.63254887_63254888del, NC_000001.11:g.63254888del, NC_000001.11:g.63254888dup, NC_000001.11:g.63254887_63254888dup, NC_000001.10:g.63720555_63720559del, NC_000001.10:g.63720557_63720559del, NC_000001.10:g.63720558_63720559del, NC_000001.10:g.63720559del, NC_000001.10:g.63720559dup, NC_000001.10:g.63720558_63720559dup
5.
rs1491564635 has merged into rs71045884 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:63184219
(GRCh38)
1:63649890
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63184204:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00466 (Varview), LOC105378770 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.63184219_63184225del, NC_000001.11:g.63184220_63184225del, NC_000001.11:g.63184221_63184225del, NC_000001.11:g.63184222_63184225del, NC_000001.11:g.63184223_63184225del, NC_000001.11:g.63184224_63184225del, NC_000001.11:g.63184225del, NC_000001.11:g.63184225dup, NC_000001.11:g.63184224_63184225dup, NC_000001.11:g.63184223_63184225dup, NC_000001.11:g.63184222_63184225dup, NC_000001.11:g.63184221_63184225dup, NC_000001.11:g.63184220_63184225dup, NC_000001.11:g.63184219_63184225dup, NC_000001.11:g.63184217_63184225dup, NC_000001.11:g.63184216_63184225dup, NC_000001.11:g.63184214_63184225dup, NC_000001.11:g.63184212_63184225dup, NC_000001.11:g.63184209_63184225dup, NC_000001.11:g.63184208_63184225dup, NC_000001.11:g.63184225_63184226insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.63184225_63184226insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.63184225_63184226insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.63184225_63184226insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.63184225_63184226insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.63184225_63184226insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.63184205_63184225A[52]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.63184205_63184225A[25]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.63184205_63184225A[22]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.63649890_63649896del, NC_000001.10:g.63649891_63649896del, NC_000001.10:g.63649892_63649896del, NC_000001.10:g.63649893_63649896del, NC_000001.10:g.63649894_63649896del, NC_000001.10:g.63649895_63649896del, NC_000001.10:g.63649896del, NC_000001.10:g.63649896dup, NC_000001.10:g.63649895_63649896dup, NC_000001.10:g.63649894_63649896dup, NC_000001.10:g.63649893_63649896dup, NC_000001.10:g.63649892_63649896dup, NC_000001.10:g.63649891_63649896dup, NC_000001.10:g.63649890_63649896dup, NC_000001.10:g.63649888_63649896dup, NC_000001.10:g.63649887_63649896dup, NC_000001.10:g.63649885_63649896dup, NC_000001.10:g.63649883_63649896dup, NC_000001.10:g.63649880_63649896dup, NC_000001.10:g.63649879_63649896dup, NC_000001.10:g.63649896_63649897insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.63649896_63649897insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.63649896_63649897insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.63649896_63649897insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.63649896_63649897insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.63649896_63649897insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.63649876_63649896A[52]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.63649876_63649896A[25]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.63649876_63649896A[22]CAAAAAAAAAAAAAAAAAAAAAAAA[1]
6.
rs1491560477 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:63227299
(GRCh38)
1:63692970
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63227297:TCT:T
- Gene:
- LINC00466 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00042/5
(
ALFA)
-=0.00045/45
(GnomAD)
-=0.00057/9
(TOMMO)
TC=0.001/1
(GoNL)
-=0.04785/87
(Korea1K)
- HGVS:
7.
rs1491552824 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:63177430
(GRCh38)
1:63643102
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63177430:G:GG
- Gene:
- LINC00466 (Varview), LOC105378770 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000016/2
(GnomAD)
- HGVS:
9.
rs1491514880 has merged into rs34884316 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 1:63258927
(GRCh38)
1:63724598
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63258914:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:63258914:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:63258914:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:63258914:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:63258914:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:63258914:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:63258914:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:63258914:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00466 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.082/316
(ALSPAC)
- HGVS:
NC_000001.11:g.63258927_63258931del, NC_000001.11:g.63258928_63258931del, NC_000001.11:g.63258929_63258931del, NC_000001.11:g.63258930_63258931del, NC_000001.11:g.63258931del, NC_000001.11:g.63258931dup, NC_000001.11:g.63258930_63258931dup, NC_000001.11:g.63258929_63258931dup, NC_000001.10:g.63724598_63724602del, NC_000001.10:g.63724599_63724602del, NC_000001.10:g.63724600_63724602del, NC_000001.10:g.63724601_63724602del, NC_000001.10:g.63724602del, NC_000001.10:g.63724602dup, NC_000001.10:g.63724601_63724602dup, NC_000001.10:g.63724600_63724602dup
11.
rs1491506125 has merged into rs10712579 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:63163640
(GRCh38)
1:63629311
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63163625:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:63163625:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:63163625:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:63163625:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:63163625:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:63163625:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:63163625:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63163625:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:63163625:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00466 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.4159/2083
(1000Genomes)
- HGVS:
NC_000001.11:g.63163640_63163643del, NC_000001.11:g.63163641_63163643del, NC_000001.11:g.63163642_63163643del, NC_000001.11:g.63163643del, NC_000001.11:g.63163643dup, NC_000001.11:g.63163642_63163643dup, NC_000001.11:g.63163641_63163643dup, NC_000001.11:g.63163638_63163643dup, NC_000001.11:g.63163636_63163643dup, NC_000001.10:g.63629311_63629314del, NC_000001.10:g.63629312_63629314del, NC_000001.10:g.63629313_63629314del, NC_000001.10:g.63629314del, NC_000001.10:g.63629314dup, NC_000001.10:g.63629313_63629314dup, NC_000001.10:g.63629312_63629314dup, NC_000001.10:g.63629309_63629314dup, NC_000001.10:g.63629307_63629314dup
12.
rs1491478646 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA
[Show Flanks]
- Chromosome:
- 1:63177435
(GRCh38)
1:63643106
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63177433:AGA:A,NC_000001.11:63177433:AGA:AGAGA,NC_000001.11:63177433:AGA:AGAGAGA,NC_000001.11:63177433:AGA:AGAGAGAGAGA,NC_000001.11:63177433:AGA:AGAGAGAGAGAGA,NC_000001.11:63177433:AGA:AGAGAGAGAGAGAGA,NC_000001.11:63177433:AGA:AGAGAGAGAGAGAGAGA,NC_000001.11:63177433:AGA:AGAGAGAGAGAGAGAGAGA
- Gene:
- LINC00466 (Varview), LOC105378770 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGA=0./0
(
ALFA)
AG=0.000004/1
(TOPMED)
AGAGAGAGAGAG=0.005/3
(NorthernSweden)
- HGVS:
NC_000001.11:g.63177435_63177436del, NC_000001.11:g.63177435_63177436dup, NC_000001.11:g.63177435GA[3], NC_000001.11:g.63177435GA[5], NC_000001.11:g.63177435GA[6], NC_000001.11:g.63177435GA[7], NC_000001.11:g.63177435GA[8], NC_000001.11:g.63177435GA[9], NC_000001.10:g.63643106_63643107del, NC_000001.10:g.63643106_63643107dup, NC_000001.10:g.63643106GA[3], NC_000001.10:g.63643106GA[5], NC_000001.10:g.63643106GA[6], NC_000001.10:g.63643106GA[7], NC_000001.10:g.63643106GA[8], NC_000001.10:g.63643106GA[9]
14.
rs1491439194 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGAGA
[Show Flanks]
- Chromosome:
- 1:63177407
(GRCh38)
1:63643078
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63177405:AGA:A,NC_000001.11:63177405:AGA:AGAGAGA
- Gene:
- LINC00466 (Varview), LOC105378770 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
AGAG=0.000019/2
(GnomAD)
- HGVS:
15.
rs1491435141 has merged into rs748327778 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:63284338
(GRCh38)
1:63750009
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63284327:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00466 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000098/26
(TOPMED)
-=0.078947/3
(GENOME_DK)
- HGVS:
NC_000001.11:g.63284338_63284352del, NC_000001.11:g.63284339_63284352del, NC_000001.11:g.63284341_63284352del, NC_000001.11:g.63284342_63284352del, NC_000001.11:g.63284343_63284352del, NC_000001.11:g.63284344_63284352del, NC_000001.11:g.63284345_63284352del, NC_000001.11:g.63284346_63284352del, NC_000001.11:g.63284347_63284352del, NC_000001.11:g.63284348_63284352del, NC_000001.11:g.63284349_63284352del, NC_000001.11:g.63284350_63284352del, NC_000001.11:g.63284351_63284352del, NC_000001.11:g.63284352del, NC_000001.11:g.63284352dup, NC_000001.11:g.63284351_63284352dup, NC_000001.11:g.63284350_63284352dup, NC_000001.11:g.63284349_63284352dup, NC_000001.11:g.63284348_63284352dup, NC_000001.11:g.63284347_63284352dup, NC_000001.11:g.63284346_63284352dup, NC_000001.11:g.63284345_63284352dup, NC_000001.11:g.63284344_63284352dup, NC_000001.11:g.63284343_63284352dup, NC_000001.11:g.63284342_63284352dup, NC_000001.11:g.63284341_63284352dup, NC_000001.11:g.63284340_63284352dup, NC_000001.11:g.63284339_63284352dup, NC_000001.11:g.63284338_63284352dup, NC_000001.11:g.63284337_63284352dup, NC_000001.11:g.63284336_63284352dup, NC_000001.11:g.63284335_63284352dup, NC_000001.11:g.63284334_63284352dup, NC_000001.11:g.63284333_63284352dup, NC_000001.11:g.63284332_63284352dup, NC_000001.11:g.63284331_63284352dup, NC_000001.11:g.63284330_63284352dup, NC_000001.11:g.63284329_63284352dup, NC_000001.11:g.63284328_63284352dup, NC_000001.11:g.63284352_63284353insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.63284352_63284353insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.63284352_63284353insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.63284352_63284353insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.63284352_63284353insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.63284352_63284353insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.63284352_63284353insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.63284352_63284353insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.63750009_63750023del, NC_000001.10:g.63750010_63750023del, NC_000001.10:g.63750012_63750023del, NC_000001.10:g.63750013_63750023del, NC_000001.10:g.63750014_63750023del, NC_000001.10:g.63750015_63750023del, NC_000001.10:g.63750016_63750023del, NC_000001.10:g.63750017_63750023del, NC_000001.10:g.63750018_63750023del, NC_000001.10:g.63750019_63750023del, NC_000001.10:g.63750020_63750023del, NC_000001.10:g.63750021_63750023del, NC_000001.10:g.63750022_63750023del, NC_000001.10:g.63750023del, NC_000001.10:g.63750023dup, NC_000001.10:g.63750022_63750023dup, NC_000001.10:g.63750021_63750023dup, NC_000001.10:g.63750020_63750023dup, NC_000001.10:g.63750019_63750023dup, NC_000001.10:g.63750018_63750023dup, NC_000001.10:g.63750017_63750023dup, NC_000001.10:g.63750016_63750023dup, NC_000001.10:g.63750015_63750023dup, NC_000001.10:g.63750014_63750023dup, NC_000001.10:g.63750013_63750023dup, NC_000001.10:g.63750012_63750023dup, NC_000001.10:g.63750011_63750023dup, NC_000001.10:g.63750010_63750023dup, NC_000001.10:g.63750009_63750023dup, NC_000001.10:g.63750008_63750023dup, NC_000001.10:g.63750007_63750023dup, NC_000001.10:g.63750006_63750023dup, NC_000001.10:g.63750005_63750023dup, NC_000001.10:g.63750004_63750023dup, NC_000001.10:g.63750003_63750023dup, NC_000001.10:g.63750002_63750023dup, NC_000001.10:g.63750001_63750023dup, NC_000001.10:g.63750000_63750023dup, NC_000001.10:g.63749999_63750023dup, NC_000001.10:g.63750023_63750024insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.63750023_63750024insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.63750023_63750024insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.63750023_63750024insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.63750023_63750024insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.63750023_63750024insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.63750023_63750024insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.63750023_63750024insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
16.
rs1491415823 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GCCTGGGCG
[Show Flanks]
- Chromosome:
- 1:63283749
(GRCh38)
1:63749421
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63283749::GCCTGGGCG
- Gene:
- LINC00466 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
GCCTGGGCG=0.00008/5
(GnomAD)
- HGVS:
17.
rs1491414677 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 1:63254873
(GRCh38)
1:63720544
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63254872:TA:
- Gene:
- LINC00466 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00003/3
(GnomAD)
- HGVS:
18.
rs1491402820 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:63177462
(GRCh38)
1:63643134
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63177462::G
- Gene:
- LINC00466 (Varview), LOC105378770 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000081/2
(TOMMO)
G=0.000966/99
(GnomAD)
- HGVS:
19.
rs1491402416 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 1:63284352
(GRCh38)
1:63750023
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63284351:TG:
- Gene:
- LINC00466 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00312/37
(
ALFA)
-=0.00446/73
(TOMMO)
- HGVS:
20.
rs1491395253 has merged into rs142879345 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 1:63187085
(GRCh38)
1:63652756
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63187076:TTTTTTTTTT:TTTTTTTT,NC_000001.11:63187076:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:63187076:TTTTTTTTTT:TTTTTTTTTTT
- Gene:
- LINC00466 (Varview), LOC105378770 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.21877/1096
(1000Genomes)
-=0.28/168
(NorthernSweden)
-=0.30436/1173
(ALSPAC)
-=0.30906/1146
(TWINSUK)
-=0.35/14
(GENOME_DK)
-=0.43487/434
(GoNL)
- HGVS: