Links from Gene
Items: 1 to 20 of 1000
1.
rs1491575606 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AAGAAAGGAAGA,AAGGAAGA,AGA
[Show Flanks]
- Chromosome:
- 10:30611612
(GRCh38)
10:30900542
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30611612:AAGA:AAGAAAGAAAGGAAGA,NC_000010.11:30611612:AAGA:AAGAAAGGAAGA,NC_000010.11:30611612:AAGA:AAGAAGA
- Gene:
- LYZL2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGAAGA=0./0
(
ALFA)
AAGAAAGG=0./0
(GnomAD)
AAG=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491522727 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 10:30611562
(GRCh38)
10:30900491
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30611561:GG:
- Gene:
- LYZL2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.01732/1468
(GnomAD)
-=0.03496/574
(TOMMO)
-=0.04436/81
(Korea1K)
- HGVS:
7.
rs1491456264 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 10:30611554
(GRCh38)
10:30900483
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30611553:GG:
- Gene:
- LYZL2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00014/2
(TOMMO)
-=0.01232/1081
(GnomAD)
- HGVS:
9.
rs1491368729 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 10:30611566
(GRCh38)
10:30900495
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30611565:GG:
- Gene:
- LYZL2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00654/108
(TOMMO)
-=0.01022/826
(GnomAD)
-=0.01347/8
(NorthernSweden)
-=0.01868/34
(Korea1K)
- HGVS:
10.
rs1491349310 has merged into rs1165550893 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:30617681
(GRCh38)
10:30906610
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30617674:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LYZL2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000010.11:g.30617681_30617698del, NC_000010.11:g.30617685_30617698del, NC_000010.11:g.30617687_30617698del, NC_000010.11:g.30617688_30617698del, NC_000010.11:g.30617689_30617698del, NC_000010.11:g.30617690_30617698del, NC_000010.11:g.30617691_30617698del, NC_000010.11:g.30617692_30617698del, NC_000010.11:g.30617693_30617698del, NC_000010.11:g.30617694_30617698del, NC_000010.11:g.30617695_30617698del, NC_000010.11:g.30617696_30617698del, NC_000010.11:g.30617697_30617698del, NC_000010.11:g.30617698del, NC_000010.11:g.30617698dup, NC_000010.11:g.30617697_30617698dup, NC_000010.11:g.30617696_30617698dup, NC_000010.11:g.30617695_30617698dup, NC_000010.11:g.30617694_30617698dup, NC_000010.11:g.30617693_30617698dup, NC_000010.11:g.30617690_30617698dup, NC_000010.11:g.30617689_30617698dup, NC_000010.11:g.30617688_30617698dup, NC_000010.11:g.30617685_30617698dup, NC_000010.11:g.30617684_30617698dup, NC_000010.11:g.30617683_30617698dup, NC_000010.11:g.30617682_30617698dup, NC_000010.11:g.30617681_30617698dup, NC_000010.11:g.30617680_30617698dup, NC_000010.11:g.30617679_30617698dup, NC_000010.11:g.30617678_30617698dup, NC_000010.11:g.30617677_30617698dup, NC_000010.11:g.30617676_30617698dup, NC_000010.11:g.30617675_30617698dup, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617698_30617699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30617675_30617698A[36]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000010.11:g.30617675_30617698A[25]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000010.10:g.30906610_30906627del, NC_000010.10:g.30906614_30906627del, NC_000010.10:g.30906616_30906627del, NC_000010.10:g.30906617_30906627del, NC_000010.10:g.30906618_30906627del, NC_000010.10:g.30906619_30906627del, NC_000010.10:g.30906620_30906627del, NC_000010.10:g.30906621_30906627del, NC_000010.10:g.30906622_30906627del, NC_000010.10:g.30906623_30906627del, NC_000010.10:g.30906624_30906627del, NC_000010.10:g.30906625_30906627del, NC_000010.10:g.30906626_30906627del, NC_000010.10:g.30906627del, NC_000010.10:g.30906627dup, NC_000010.10:g.30906626_30906627dup, NC_000010.10:g.30906625_30906627dup, NC_000010.10:g.30906624_30906627dup, NC_000010.10:g.30906623_30906627dup, NC_000010.10:g.30906622_30906627dup, NC_000010.10:g.30906619_30906627dup, NC_000010.10:g.30906618_30906627dup, NC_000010.10:g.30906617_30906627dup, NC_000010.10:g.30906614_30906627dup, NC_000010.10:g.30906613_30906627dup, NC_000010.10:g.30906612_30906627dup, NC_000010.10:g.30906611_30906627dup, NC_000010.10:g.30906610_30906627dup, NC_000010.10:g.30906609_30906627dup, NC_000010.10:g.30906608_30906627dup, NC_000010.10:g.30906607_30906627dup, NC_000010.10:g.30906606_30906627dup, NC_000010.10:g.30906605_30906627dup, NC_000010.10:g.30906604_30906627dup, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906627_30906628insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.30906604_30906627A[36]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000010.10:g.30906604_30906627A[25]GAAAAAAAAAAAAAAAAAAAAAAAA[1]
11.
rs1491344870 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGAAAGAA,GGAAAGAAAGAA,GGAAAGAAAGAAAGAA,GGAAAGAAAGAAAGAAAGAA,GGAAAGAAAGAAAGAAAGAAAGAA,GGAAAGAAAGAAAGAAAGAAAGAAAGAA,GGAAGGAAAGAA,GGAAGGAAAGAAAGAA,GGAAGGAAAGAAAGAAAGAA,GGAAGGAAAGAAAGAAAGAAAGAA,GGAAGGAAAGAAAGAAAGAAAGAAAGAA,GGAAGGAAGGAAAGAA,GGAAGGAAGGAAAGAAAGAA,GGAAGGAAGGAAAGAAAGAAAGAA,GGAAGGAAGGAAAGAAAGAAAGAAAGAA,GGAAGGAAGGAAGGAAAGAA,GGAAGGAAGGAAGGAAAGAAAGAA,GGAAGGAAGGAAGGAAAGAAAGAAAGAA,GGAAGGAAGGAAGGAAGGAAAGAA,GGAAGGAAGGAAGGAAGGAAAGAAAGAA,GGAAGGAAGGAAGGAAGGAAGGAAAGAA,TGAA
[Show Flanks]
- Chromosome:
- 10:30611570
(GRCh38)
10:30900500
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30611570:GAA:GAAGGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAAGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAAGAAAGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAAGAAAGAAAGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAAGAAAGAAAGAAAGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAAGAAAGAAAGAAAGAAAGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAGGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAGGAAAGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAGGAAAGAAAGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAGGAAAGAAAGAAAGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAGGAAAGAAAGAAAGAAAGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAGGAAGGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAGGAAGGAAAGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAGGAAGGAAAGAAAGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAGGAAGGAAAGAAAGAAAGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAGGAAGGAAGGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAGGAAGGAAGGAAAGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAGGAAGGAAGGAAAGAAAGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAGGAAGGAAGGAAGGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAGGAAGGAAGGAAGGAAAGAAAGAA,NC_000010.11:30611570:GAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA,NC_000010.11:30611570:GAA:GAATGAA
- Gene:
- LYZL2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAGGAAAGAAAGAAAGAA=0./0
(
ALFA)
GAAT=0.000004/1
(TOPMED)
- HGVS:
NC_000010.11:g.30611573_30611574insGGAAAGAA, NC_000010.11:g.30611573_30611574insGGAAAGAAAGAA, NC_000010.11:g.30611573_30611574insGGAAAGAAAGAAAGAA, NC_000010.11:g.30611573_30611574insGGAAAGAAAGAAAGAAAGAA, NC_000010.11:g.30611573_30611574insGGAAAGAAAGAAAGAAAGAAAGAA, NC_000010.11:g.30611573_30611574insGGAAAGAAAGAAAGAAAGAAAGAAAGAA, NC_000010.11:g.30611571_30611573GAAG[2]GAAAGAA[1], NC_000010.11:g.30611571_30611573GAAG[2]GAAA[2]GAA[1], NC_000010.11:g.30611571_30611573GAAG[2]GAAA[3]GAA[1], NC_000010.11:g.30611571_30611573GAAG[2]GAAA[4]GAA[1], NC_000010.11:g.30611571_30611573GAAG[2]GAAA[5]GAA[1], NC_000010.11:g.30611571_30611573GAAG[3]GAAAGAA[1], NC_000010.11:g.30611571_30611573GAAG[3]GAAA[2]GAA[1], NC_000010.11:g.30611571_30611573GAAG[3]GAAA[3]GAA[1], NC_000010.11:g.30611571_30611573GAAG[3]GAAA[4]GAA[1], NC_000010.11:g.30611571_30611573GAAG[4]GAAAGAA[1], NC_000010.11:g.30611571_30611573GAAG[4]GAAA[2]GAA[1], NC_000010.11:g.30611571_30611573GAAG[4]GAAA[3]GAA[1], NC_000010.11:g.30611571_30611573GAAG[5]GAAAGAA[1], NC_000010.11:g.30611571_30611573GAAG[5]GAAA[2]GAA[1], NC_000010.11:g.30611571_30611573GAAG[6]GAAAGAA[1], NC_000010.11:g.30611573_30611574insTGAA, NC_000010.10:g.30900502_30900503insGGAAAGAA, NC_000010.10:g.30900502_30900503insGGAAAGAAAGAA, NC_000010.10:g.30900502_30900503insGGAAAGAAAGAAAGAA, NC_000010.10:g.30900502_30900503insGGAAAGAAAGAAAGAAAGAA, NC_000010.10:g.30900502_30900503insGGAAAGAAAGAAAGAAAGAAAGAA, NC_000010.10:g.30900502_30900503insGGAAAGAAAGAAAGAAAGAAAGAAAGAA, NC_000010.10:g.30900500_30900502GAAG[2]GAAAGAA[1], NC_000010.10:g.30900500_30900502GAAG[2]GAAA[2]GAA[1], NC_000010.10:g.30900500_30900502GAAG[2]GAAA[3]GAA[1], NC_000010.10:g.30900500_30900502GAAG[2]GAAA[4]GAA[1], NC_000010.10:g.30900500_30900502GAAG[2]GAAA[5]GAA[1], NC_000010.10:g.30900500_30900502GAAG[3]GAAAGAA[1], NC_000010.10:g.30900500_30900502GAAG[3]GAAA[2]GAA[1], NC_000010.10:g.30900500_30900502GAAG[3]GAAA[3]GAA[1], NC_000010.10:g.30900500_30900502GAAG[3]GAAA[4]GAA[1], NC_000010.10:g.30900500_30900502GAAG[4]GAAAGAA[1], NC_000010.10:g.30900500_30900502GAAG[4]GAAA[2]GAA[1], NC_000010.10:g.30900500_30900502GAAG[4]GAAA[3]GAA[1], NC_000010.10:g.30900500_30900502GAAG[5]GAAAGAA[1], NC_000010.10:g.30900500_30900502GAAG[5]GAAA[2]GAA[1], NC_000010.10:g.30900500_30900502GAAG[6]GAAAGAA[1], NC_000010.10:g.30900502_30900503insTGAA
12.
rs1491337234 has merged into rs58337423 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AA,AAA
[Show Flanks]
- Chromosome:
- 10:30611702
(GRCh38)
10:30900631
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30611700:AAAAA:A,NC_000010.11:30611700:AAAAA:AAA,NC_000010.11:30611700:AAAAA:AAAA
- Gene:
- LYZL2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.00011/7
(GnomAD)
-=0.08796/339
(ALSPAC)
- HGVS:
13.
rs1491301052 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 10:30611558
(GRCh38)
10:30900487
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30611557:GG:
- Gene:
- LYZL2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.03989/73
(Korea1K)
-=0.05418/884
(TOMMO)
-=0.06456/5592
(GnomAD)
-=0.06711/40
(NorthernSweden)
- HGVS:
14.
rs1491279870 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CTC
[Show Flanks]
- Chromosome:
- 10:30630940
(GRCh38)
10:30919870
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30630940::C,NC_000010.11:30630940::CTC
- Gene:
- LYZL2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTC=0./0
(
ALFA)
C=0.00009/9
(GnomAD)
C=0.00014/2
(TOMMO)
- HGVS:
15.
rs1491276047 has merged into rs1311113872 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGA
[Show Flanks]
- Chromosome:
- 10:30611599
(GRCh38)
10:30900528
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30611597:AGA:A,NC_000010.11:30611597:AGA:AGAGA
- Gene:
- LYZL2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAGA=0./0
(
ALFA)
AG=0.000009/1
(GnomAD)
- HGVS:
16.
rs1491268042 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGAA,AGAAAGAA
[Show Flanks]
- Chromosome:
- 10:30611554
(GRCh38)
10:30900484
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30611554:GAA:GAAAGAA,NC_000010.11:30611554:GAA:GAAAGAAAGAA
- Gene:
- LYZL2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAAGAAAGAA=0./0
(
ALFA)
GAAA=0.00009/7
(GnomAD)
- HGVS:
19.
rs1491192253 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AAGAAAGAAAGAAAGAAAGAAAGAAAG,AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAC
[Show Flanks]
- Chromosome:
- 10:30611726
(GRCh38)
10:30900656
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30611726::AAGAAAGAAAGAAAGAAAGAAAGAAAG,NC_000010.11:30611726::AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAC
- Gene:
- LYZL2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAC=0.00001/1
(GnomAD)
- HGVS:
20.
rs1491184141 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGAA,AGAAAGAA,AGAAAGAAAGAA,AGAAAGAAAGAAAGAA,AGAAGAA
[Show Flanks]
- Chromosome:
- 10:30611566
(GRCh38)
10:30900496
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30611566:GAA:GAAAGAA,NC_000010.11:30611566:GAA:GAAAGAAAGAA,NC_000010.11:30611566:GAA:GAAAGAAAGAAAGAA,NC_000010.11:30611566:GAA:GAAAGAAAGAAAGAAAGAA,NC_000010.11:30611566:GAA:GAAAGAAGAA
- Gene:
- LYZL2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS: