Links from Gene
Items: 1 to 20 of 12435
1.
rs1491580296 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CTC,CTCTC,G
[Show Flanks]
- Chromosome:
- 1:201920046
(GRCh38)
1:201889175
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201920046::C,NC_000001.11:201920046::CTC,NC_000001.11:201920046::CTCTC,NC_000001.11:201920046::G
- Gene:
- LMOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTC=0./0
(
ALFA)
CTCTC=0.000004/1
(TOPMED)
C=0.002596/39
(TOMMO)
- HGVS:
2.
rs1491530830 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAA
[Show Flanks]
- Chromosome:
- 1:201924690
(GRCh38)
1:201893819
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201924690:AAGAA:AAGAAGAA
- Gene:
- LMOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAGAAGAA=0./0
(
ALFA)
AAG=0.00001/1
(GnomAD)
- HGVS:
3.
rs1491529333 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 1:201923904
(GRCh38)
1:201893032
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201923902:GGG:G
- Gene:
- LMOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.0003/37
(GnomAD)
-=0.000591/10
(TOMMO)
- HGVS:
4.
rs1491517364 has merged into rs72255474 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:201927600
(GRCh38)
1:201896728
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201927588:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:201927588:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:201927588:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:201927588:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:201927588:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:201927588:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201927588:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LMOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.20467/1025
(1000Genomes)
- HGVS:
NC_000001.11:g.201927600_201927601del, NC_000001.11:g.201927601del, NC_000001.11:g.201927601dup, NC_000001.11:g.201927600_201927601dup, NC_000001.11:g.201927599_201927601dup, NC_000001.11:g.201927601_201927602insAAAAAAAAAAAAAAAAA, NC_000001.11:g.201927601_201927602insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.201896728_201896729del, NC_000001.10:g.201896729del, NC_000001.10:g.201896729dup, NC_000001.10:g.201896728_201896729dup, NC_000001.10:g.201896727_201896729dup, NC_000001.10:g.201896729_201896730insAAAAAAAAAAAAAAAAA, NC_000001.10:g.201896729_201896730insAAAAAAAAAAAAAAAAAAAAAAAA
8.
rs1491357866 has merged into rs1224538245 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 1:201924663
(GRCh38)
1:201893791
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201924660:AAAAAAAA:AA,NC_000001.11:201924660:AAAAAAAA:AAA,NC_000001.11:201924660:AAAAAAAA:AAAA,NC_000001.11:201924660:AAAAAAAA:AAAAA,NC_000001.11:201924660:AAAAAAAA:AAAAAA,NC_000001.11:201924660:AAAAAAAA:AAAAAAA,NC_000001.11:201924660:AAAAAAAA:AAAAAAAAA,NC_000001.11:201924660:AAAAAAAA:AAAAAAAAAA
- Gene:
- LMOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.00055/1
(Korea1K)
- HGVS:
NC_000001.11:g.201924663_201924668del, NC_000001.11:g.201924664_201924668del, NC_000001.11:g.201924665_201924668del, NC_000001.11:g.201924666_201924668del, NC_000001.11:g.201924667_201924668del, NC_000001.11:g.201924668del, NC_000001.11:g.201924668dup, NC_000001.11:g.201924667_201924668dup, NC_000001.10:g.201893791_201893796del, NC_000001.10:g.201893792_201893796del, NC_000001.10:g.201893793_201893796del, NC_000001.10:g.201893794_201893796del, NC_000001.10:g.201893795_201893796del, NC_000001.10:g.201893796del, NC_000001.10:g.201893796dup, NC_000001.10:g.201893795_201893796dup
9.
rs1491335207 has merged into rs57488982 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:201921497
(GRCh38)
1:201890625
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LMOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.201921497_201921512del, NC_000001.11:g.201921498_201921512del, NC_000001.11:g.201921501_201921512del, NC_000001.11:g.201921503_201921512del, NC_000001.11:g.201921504_201921512del, NC_000001.11:g.201921505_201921512del, NC_000001.11:g.201921506_201921512del, NC_000001.11:g.201921507_201921512del, NC_000001.11:g.201921508_201921512del, NC_000001.11:g.201921509_201921512del, NC_000001.11:g.201921510_201921512del, NC_000001.11:g.201921511_201921512del, NC_000001.11:g.201921512del, NC_000001.11:g.201921512dup, NC_000001.11:g.201921511_201921512dup, NC_000001.11:g.201921510_201921512dup, NC_000001.11:g.201921509_201921512dup, NC_000001.11:g.201921508_201921512dup, NC_000001.11:g.201921507_201921512dup, NC_000001.11:g.201921496_201921512dup, NC_000001.10:g.201890625_201890640del, NC_000001.10:g.201890626_201890640del, NC_000001.10:g.201890629_201890640del, NC_000001.10:g.201890631_201890640del, NC_000001.10:g.201890632_201890640del, NC_000001.10:g.201890633_201890640del, NC_000001.10:g.201890634_201890640del, NC_000001.10:g.201890635_201890640del, NC_000001.10:g.201890636_201890640del, NC_000001.10:g.201890637_201890640del, NC_000001.10:g.201890638_201890640del, NC_000001.10:g.201890639_201890640del, NC_000001.10:g.201890640del, NC_000001.10:g.201890640dup, NC_000001.10:g.201890639_201890640dup, NC_000001.10:g.201890638_201890640dup, NC_000001.10:g.201890637_201890640dup, NC_000001.10:g.201890636_201890640dup, NC_000001.10:g.201890635_201890640dup, NC_000001.10:g.201890624_201890640dup
10.
rs1491309253 has merged into rs1553295627 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT,ATATATAT,ATATATATGTATATATATATATATATATATAT,ATATATGTATATATATATATATATAT,ATATATGTATATATATATATATATATAT,ATATATGTATATATATATATATATATATAT,ATATATGTATATATATATATATATATATATAT,ATATATGTATATATATATATATATATATATATATAT,ATATATGTATATATATATATATATATATATATGTATATATATATATATATATATAT,ATATATGTGTATATATATATATATATAT,ATATATGTGTATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 1:201901526
(GRCh38)
1:201870654
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATATGTATATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTATATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTATATATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTATATATATATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTATATATATATATATATATATATATGTATATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTGTATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTGTATATATATATATATATATAT
- Gene:
- LMOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATATATAT=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.201901512AT[7], NC_000001.11:g.201901512AT[8], NC_000001.11:g.201901512AT[10], NC_000001.11:g.201901512AT[11], NC_000001.11:g.201901512_201901529AT[11]GTATATATATATATATATATATAT[1], NC_000001.11:g.201901512_201901529AT[10]GTATATATATATATATATAT[1], NC_000001.11:g.201901512_201901529AT[10]GTATATATATATATATATATAT[1], NC_000001.11:g.201901512_201901529AT[10]GTATATATATATATATATATATAT[1], NC_000001.11:g.201901512_201901529AT[10]GTATATATATATATATATATATATAT[1], NC_000001.11:g.201901512_201901529AT[10]GTATATATATATATATATATATATATATAT[1], NC_000001.11:g.201901529_201901530insATGTATATATATATATATATATATATATGTATATATATATATATATATATAT, NC_000001.11:g.201901512_201901529AT[10]GT[2]AT[9], NC_000001.11:g.201901512_201901529AT[10]GT[2]AT[10], NC_000001.10:g.201870640AT[7], NC_000001.10:g.201870640AT[8], NC_000001.10:g.201870640AT[10], NC_000001.10:g.201870640AT[11], NC_000001.10:g.201870640_201870657AT[11]GTATATATATATATATATATATAT[1], NC_000001.10:g.201870640_201870657AT[10]GTATATATATATATATATAT[1], NC_000001.10:g.201870640_201870657AT[10]GTATATATATATATATATATAT[1], NC_000001.10:g.201870640_201870657AT[10]GTATATATATATATATATATATAT[1], NC_000001.10:g.201870640_201870657AT[10]GTATATATATATATATATATATATAT[1], NC_000001.10:g.201870640_201870657AT[10]GTATATATATATATATATATATATATATAT[1], NC_000001.10:g.201870657_201870658insATGTATATATATATATATATATATATATGTATATATATATATATATATATAT, NC_000001.10:g.201870640_201870657AT[10]GT[2]AT[9], NC_000001.10:g.201870640_201870657AT[10]GT[2]AT[10]
11.
rs1491298039 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAAA
[Show Flanks]
- Chromosome:
- 1:201923933
(GRCh38)
1:201893061
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201923931:AAA:A,NC_000001.11:201923931:AAA:AAAAA
- Gene:
- LMOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00049/8
(
ALFA)
-=0./0
(GnomAD)
-=0.000865/22
(TOMMO)
- HGVS:
13.
rs1491247542 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 1:201919228
(GRCh38)
1:201888356
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201919227:TG:
- Gene:
- LMOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
14.
rs1491229361 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAA
[Show Flanks]
- Chromosome:
- 1:201924682
(GRCh38)
1:201893811
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201924682:AAGAA:AAGAAGAA
- Gene:
- LMOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAGAAGAA=0./0
(
ALFA)
AAG=0.00049/17
(GnomAD)
- HGVS:
15.
rs1491222130 has merged into rs34220629 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:201948182
(GRCh38)
1:201917310
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201948169:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:201948169:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:201948169:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:201948169:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:201948169:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:201948169:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:201948169:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LMOD1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.4329/2168
(1000Genomes)
- HGVS:
NC_000001.11:g.201948182_201948185del, NC_000001.11:g.201948183_201948185del, NC_000001.11:g.201948184_201948185del, NC_000001.11:g.201948185del, NC_000001.11:g.201948185dup, NC_000001.11:g.201948184_201948185dup, NC_000001.11:g.201948176_201948185dup, NC_000001.10:g.201917310_201917313del, NC_000001.10:g.201917311_201917313del, NC_000001.10:g.201917312_201917313del, NC_000001.10:g.201917313del, NC_000001.10:g.201917313dup, NC_000001.10:g.201917312_201917313dup, NC_000001.10:g.201917304_201917313dup
16.
rs1491221032 has merged into rs576044641 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:201920057
(GRCh38)
1:201889185
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LMOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTTT=0./0
(GENOME_DK)
TTTTTTTTTTTTTTTT=0.4071/2039
(1000Genomes)
- HGVS:
NC_000001.11:g.201920057_201920073del, NC_000001.11:g.201920058_201920073del, NC_000001.11:g.201920059_201920073del, NC_000001.11:g.201920060_201920073del, NC_000001.11:g.201920061_201920073del, NC_000001.11:g.201920062_201920073del, NC_000001.11:g.201920063_201920073del, NC_000001.11:g.201920064_201920073del, NC_000001.11:g.201920065_201920073del, NC_000001.11:g.201920066_201920073del, NC_000001.11:g.201920067_201920073del, NC_000001.11:g.201920068_201920073del, NC_000001.11:g.201920069_201920073del, NC_000001.11:g.201920070_201920073del, NC_000001.11:g.201920071_201920073del, NC_000001.11:g.201920072_201920073del, NC_000001.11:g.201920073del, NC_000001.11:g.201920073dup, NC_000001.11:g.201920072_201920073dup, NC_000001.11:g.201920071_201920073dup, NC_000001.11:g.201920070_201920073dup, NC_000001.11:g.201920069_201920073dup, NC_000001.11:g.201920068_201920073dup, NC_000001.11:g.201920067_201920073dup, NC_000001.11:g.201920065_201920073dup, NC_000001.11:g.201920063_201920073dup, NC_000001.10:g.201889185_201889201del, NC_000001.10:g.201889186_201889201del, NC_000001.10:g.201889187_201889201del, NC_000001.10:g.201889188_201889201del, NC_000001.10:g.201889189_201889201del, NC_000001.10:g.201889190_201889201del, NC_000001.10:g.201889191_201889201del, NC_000001.10:g.201889192_201889201del, NC_000001.10:g.201889193_201889201del, NC_000001.10:g.201889194_201889201del, NC_000001.10:g.201889195_201889201del, NC_000001.10:g.201889196_201889201del, NC_000001.10:g.201889197_201889201del, NC_000001.10:g.201889198_201889201del, NC_000001.10:g.201889199_201889201del, NC_000001.10:g.201889200_201889201del, NC_000001.10:g.201889201del, NC_000001.10:g.201889201dup, NC_000001.10:g.201889200_201889201dup, NC_000001.10:g.201889199_201889201dup, NC_000001.10:g.201889198_201889201dup, NC_000001.10:g.201889197_201889201dup, NC_000001.10:g.201889196_201889201dup, NC_000001.10:g.201889195_201889201dup, NC_000001.10:g.201889193_201889201dup, NC_000001.10:g.201889191_201889201dup
18.
rs1491210634 has merged into rs1252319848 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 1:201924683
(GRCh38)
1:201893811
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201924681:AAA:A,NC_000001.11:201924681:AAA:AA,NC_000001.11:201924681:AAA:AAAA,NC_000001.11:201924681:AAA:AAAAAAAA
- Gene:
- LMOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00009/3
(GnomAD)
- HGVS:
19.
rs1491196328 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:201948169
(GRCh38)
1:201917297
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201948168:CA:
- Gene:
- LMOD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00033/7
(GnomAD)
- HGVS:
20.
rs1491195561 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:201921487
(GRCh38)
1:201890615
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201921486:CA:
- Gene:
- LMOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00051/6
(
ALFA)
-=0.00299/82
(TOMMO)
- HGVS: