Links from Gene
Items: 1 to 20 of 33665
2.
rs1491569636 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATGTGT
[Show Flanks]
- Chromosome:
- 14:26572726
(GRCh38)
14:27041933
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26572726:TGTGT:TGTGTATGTGT
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTATGTGT=0./0
(
ALFA)
TGTGTA=0.00219/3
(GnomAD)
- HGVS:
3.
rs1491522899 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 14:26462610
(GRCh38)
14:26931816
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26462607:ATAT:AT
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
4.
rs1491472128 has merged into rs566340896 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCCCC>-,C,CC,CCC,CCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
[Show Flanks]
- Chromosome:
- 14:26574276
(GRCh38)
14:27043482
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26574267:CCCCCCCCCCCCC:CCCCCCCC,NC_000014.9:26574267:CCCCCCCCCCCCC:CCCCCCCCC,NC_000014.9:26574267:CCCCCCCCCCCCC:CCCCCCCCCC,NC_000014.9:26574267:CCCCCCCCCCCCC:CCCCCCCCCCC,NC_000014.9:26574267:CCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000014.9:26574267:CCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000014.9:26574267:CCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000014.9:26574267:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000014.9:26574267:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000014.9:26574267:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000014.9:26574267:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCC=0./0
(
ALFA)
-=0.26316/10
(GENOME_DK)
- HGVS:
NC_000014.9:g.26574276_26574280del, NC_000014.9:g.26574277_26574280del, NC_000014.9:g.26574278_26574280del, NC_000014.9:g.26574279_26574280del, NC_000014.9:g.26574280del, NC_000014.9:g.26574280dup, NC_000014.9:g.26574279_26574280dup, NC_000014.9:g.26574278_26574280dup, NC_000014.9:g.26574277_26574280dup, NC_000014.9:g.26574276_26574280dup, NC_000014.9:g.26574280_26574281insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000014.8:g.27043482_27043486del, NC_000014.8:g.27043483_27043486del, NC_000014.8:g.27043484_27043486del, NC_000014.8:g.27043485_27043486del, NC_000014.8:g.27043486del, NC_000014.8:g.27043486dup, NC_000014.8:g.27043485_27043486dup, NC_000014.8:g.27043484_27043486dup, NC_000014.8:g.27043483_27043486dup, NC_000014.8:g.27043482_27043486dup, NC_000014.8:g.27043486_27043487insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
5.
rs1491444112 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 14:26462608
(GRCh38)
14:26931815
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26462608:T:TT
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
6.
rs1491435562 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 14:26537390
(GRCh38)
14:27006597
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26537390:T:TAT
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TAT=0./0
(
ALFA)
TA=0.000008/2
(TOPMED)
- HGVS:
7.
rs1491377005 has merged into rs869200763 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 14:26526591
(GRCh38)
14:26995797
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26526587:ATATA:ATA
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0.000084/1
(
ALFA)
-=0.000047/4
(GnomAD)
-=0.00006/16
(TOPMED)
- HGVS:
8.
rs1491321429 has merged into rs71121888 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:26542745
(GRCh38)
14:27011951
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:26542733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.1066/534
(1000Genomes)
- HGVS:
NC_000014.9:g.26542745_26542751del, NC_000014.9:g.26542746_26542751del, NC_000014.9:g.26542747_26542751del, NC_000014.9:g.26542748_26542751del, NC_000014.9:g.26542749_26542751del, NC_000014.9:g.26542750_26542751del, NC_000014.9:g.26542751del, NC_000014.9:g.26542751dup, NC_000014.9:g.26542750_26542751dup, NC_000014.9:g.26542749_26542751dup, NC_000014.9:g.26542746_26542751dup, NC_000014.9:g.26542751_26542752insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.26542734_26542751A[18]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.8:g.27011951_27011957del, NC_000014.8:g.27011952_27011957del, NC_000014.8:g.27011953_27011957del, NC_000014.8:g.27011954_27011957del, NC_000014.8:g.27011955_27011957del, NC_000014.8:g.27011956_27011957del, NC_000014.8:g.27011957del, NC_000014.8:g.27011957dup, NC_000014.8:g.27011956_27011957dup, NC_000014.8:g.27011955_27011957dup, NC_000014.8:g.27011952_27011957dup, NC_000014.8:g.27011957_27011958insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.27011940_27011957A[18]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
9.
rs1491310116 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TC
[Show Flanks]
- Chromosome:
- 14:26485391
(GRCh38)
14:26954598
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26485391::TC
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
TC=0.000021/3
(GnomAD)
- HGVS:
10.
rs1491271771 has merged into rs56021646 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 14:26572742
(GRCh38)
14:27041948
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:26572725:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000014.9:g.26572726GT[8], NC_000014.9:g.26572726GT[11], NC_000014.9:g.26572726GT[12], NC_000014.9:g.26572726GT[13], NC_000014.9:g.26572726GT[14], NC_000014.9:g.26572726GT[15], NC_000014.9:g.26572726GT[16], NC_000014.9:g.26572726GT[17], NC_000014.9:g.26572726GT[18], NC_000014.9:g.26572726GT[19], NC_000014.9:g.26572726GT[21], NC_000014.9:g.26572726GT[22], NC_000014.9:g.26572726GT[23], NC_000014.9:g.26572726GT[24], NC_000014.9:g.26572726GT[25], NC_000014.9:g.26572726GT[26], NC_000014.9:g.26572726GT[27], NC_000014.9:g.26572726GT[28], NC_000014.9:g.26572726GT[29], NC_000014.9:g.26572726GT[30], NC_000014.9:g.26572726GT[31], NC_000014.9:g.26572726GT[32], NC_000014.9:g.26572726GT[33], NC_000014.9:g.26572726GT[34], NC_000014.9:g.26572726GT[35], NC_000014.9:g.26572726GT[36], NC_000014.9:g.26572726GT[37], NC_000014.9:g.26572726GT[38], NC_000014.8:g.27041932GT[8], NC_000014.8:g.27041932GT[11], NC_000014.8:g.27041932GT[12], NC_000014.8:g.27041932GT[13], NC_000014.8:g.27041932GT[14], NC_000014.8:g.27041932GT[15], NC_000014.8:g.27041932GT[16], NC_000014.8:g.27041932GT[17], NC_000014.8:g.27041932GT[18], NC_000014.8:g.27041932GT[19], NC_000014.8:g.27041932GT[21], NC_000014.8:g.27041932GT[22], NC_000014.8:g.27041932GT[23], NC_000014.8:g.27041932GT[24], NC_000014.8:g.27041932GT[25], NC_000014.8:g.27041932GT[26], NC_000014.8:g.27041932GT[27], NC_000014.8:g.27041932GT[28], NC_000014.8:g.27041932GT[29], NC_000014.8:g.27041932GT[30], NC_000014.8:g.27041932GT[31], NC_000014.8:g.27041932GT[32], NC_000014.8:g.27041932GT[33], NC_000014.8:g.27041932GT[34], NC_000014.8:g.27041932GT[35], NC_000014.8:g.27041932GT[36], NC_000014.8:g.27041932GT[37], NC_000014.8:g.27041932GT[38]
11.
rs1491264244 has merged into rs72054917 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 14:26578365
(GRCh38)
14:27047571
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26578355:TTTTTTTTTTT:TTTTTTTTT,NC_000014.9:26578355:TTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:26578355:TTTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.356005/5967
(TOMMO)
-=0.358027/1793
(1000Genomes)
-=0.362445/664
(Korea1K)
-=0.365847/96836
(TOPMED)
- HGVS:
13.
rs1491179689 has merged into rs5807368 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTTT
[Show Flanks]
- Chromosome:
- 14:26529139
(GRCh38)
14:26998345
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26529128:TTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:26529128:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:26529128:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:26529128:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0.000949/10
(
ALFA)
-=0.161667/97
(NorthernSweden)
-=0.275/11
(GENOME_DK)
-=0.293827/77773
(TOPMED)
- HGVS:
14.
rs1491126501 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:26513697
(GRCh38)
14:26982903
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26513695:ACA:A
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1491107536 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 14:26578355
(GRCh38)
14:27047561
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26578354:CT:
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.011548/148
(
ALFA)
-=0.003522/412
(GnomAD)
-=0.009166/149
(TOMMO)
-=0.010626/19
(Korea1K)
- HGVS:
16.
rs1491075267 has merged into rs375431107 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:26557539
(GRCh38)
14:27026745
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26557528:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:26557528:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:26557528:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:26557528:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:26557528:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:26557528:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:26557528:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:26557528:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:26557528:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:26557528:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:26557528:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000014.9:g.26557539_26557544del, NC_000014.9:g.26557543_26557544del, NC_000014.9:g.26557544del, NC_000014.9:g.26557544dup, NC_000014.9:g.26557543_26557544dup, NC_000014.9:g.26557542_26557544dup, NC_000014.9:g.26557540_26557544dup, NC_000014.9:g.26557539_26557544dup, NC_000014.9:g.26557538_26557544dup, NC_000014.9:g.26557537_26557544dup, NC_000014.9:g.26557536_26557544dup, NC_000014.8:g.27026745_27026750del, NC_000014.8:g.27026749_27026750del, NC_000014.8:g.27026750del, NC_000014.8:g.27026750dup, NC_000014.8:g.27026749_27026750dup, NC_000014.8:g.27026748_27026750dup, NC_000014.8:g.27026746_27026750dup, NC_000014.8:g.27026745_27026750dup, NC_000014.8:g.27026744_27026750dup, NC_000014.8:g.27026743_27026750dup, NC_000014.8:g.27026742_27026750dup
17.
rs1491066124 has merged into rs1185179946 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CCC
[Show Flanks]
- Chromosome:
- 14:26508577
(GRCh38)
14:26977783
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26508576:CC:C,NC_000014.9:26508576:CC:CCCC
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCC=0./0
(
ALFA)
CC=0.000051/7
(GnomAD)
- HGVS:
18.
rs1491053279 has merged into rs201369181 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 14:26585648
(GRCh38)
14:27054854
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26585638:ATATATATATA:ATATATATA,NC_000014.9:26585638:ATATATATATA:ATATATATATATA
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATA=0./0
(
ALFA)
AT=0.00781/39
(1000Genomes)
AT=0.00926/2
(Vietnamese)
AT=0.06284/115
(Korea1K)
AT=0.06456/1082
(TOMMO)
- HGVS:
19.
rs1491047512 has merged into rs558343568 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 14:26586922
(GRCh38)
14:27056128
(GRCh37)
- Canonical SPDI:
- NC_000014.9:26586908:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:26586908:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:26586908:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:26586908:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:26586908:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:26586908:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- NOVA1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.02/12
(NorthernSweden)
- HGVS:
NC_000014.9:g.26586922_26586924del, NC_000014.9:g.26586923_26586924del, NC_000014.9:g.26586924del, NC_000014.9:g.26586924dup, NC_000014.9:g.26586923_26586924dup, NC_000014.9:g.26586922_26586924dup, NC_000014.8:g.27056128_27056130del, NC_000014.8:g.27056129_27056130del, NC_000014.8:g.27056130del, NC_000014.8:g.27056130dup, NC_000014.8:g.27056129_27056130dup, NC_000014.8:g.27056128_27056130dup