Links from Nucleotide
Items: 1 to 20 of 32177
1.
rs1491579684 has merged into rs35645656 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT
[Show Flanks]
- Chromosome:
- 8:31130630
(GRCh38)
8:30988146
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31130618:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:31130618:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:31130618:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:31130618:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:31130618:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- WRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
TT=0.1126/564
(1000Genomes)
- HGVS:
NC_000008.11:g.31130630_31130633del, NC_000008.11:g.31130631_31130633del, NC_000008.11:g.31130632_31130633del, NC_000008.11:g.31130633del, NC_000008.11:g.31130633dup, NC_000008.10:g.30988146_30988149del, NC_000008.10:g.30988147_30988149del, NC_000008.10:g.30988148_30988149del, NC_000008.10:g.30988149del, NC_000008.10:g.30988149dup, NG_008870.1:g.102369_102372del, NG_008870.1:g.102370_102372del, NG_008870.1:g.102371_102372del, NG_008870.1:g.102372del, NG_008870.1:g.102372dup
2.
rs1491510849 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AAAAC,AAAC,AAC,AC
[Show Flanks]
- Chromosome:
- 8:31130024
(GRCh38)
8:30987541
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31130024::AAAAC,NC_000008.11:31130024::AAAC,NC_000008.11:31130024::AAC,NC_000008.11:31130024::AC
- Gene:
- WRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAC=0./0
(
ALFA)
AC=0.00015/2
(TOMMO)
- HGVS:
NC_000008.11:g.31130024_31130025insAAAAC, NC_000008.11:g.31130024_31130025insAAAC, NC_000008.11:g.31130024_31130025insAAC, NC_000008.11:g.31130024_31130025insAC, NC_000008.10:g.30987540_30987541insAAAAC, NC_000008.10:g.30987540_30987541insAAAC, NC_000008.10:g.30987540_30987541insAAC, NC_000008.10:g.30987540_30987541insAC, NG_008870.1:g.101763_101764insAAAAC, NG_008870.1:g.101763_101764insAAAC, NG_008870.1:g.101763_101764insAAC, NG_008870.1:g.101763_101764insAC
3.
rs1491487292 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 8:31143056
(GRCh38)
8:31000572
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31143055:TT:
- Gene:
- WRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00472/56
(
ALFA)
-=0.00074/11
(TOMMO)
-=0.0012/2
(Korea1K)
-=0.12661/2264
(GnomAD)
- HGVS:
4.
rs1491467330 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 8:31143055
(GRCh38)
8:31000571
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31143054:AT:
- Gene:
- WRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.05033/597
(
ALFA)
-=0.00014/5
(GnomAD)
- HGVS:
6.
rs1491456581 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 8:31174881
(GRCh38)
8:31032398
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31174881::C
- Gene:
- WRN (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000077/10
(GnomAD)
C=0.000668/11
(TOMMO)
C=0.002183/4
(Korea1K)
- HGVS:
7.
rs1491405126 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 8:31130026
(GRCh38)
8:30987543
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31130026::C
- Gene:
- WRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.003035/36
(
ALFA)
C=0.000472/8
(TOMMO)
C=0.007984/987
(GnomAD)
C=0.009847/18
(Korea1K)
- HGVS:
8.
rs1491392174 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 8:31114893
(GRCh38)
8:30972409
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31114892:GG:
- Gene:
- WRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0197/76
(ALSPAC)
-=0.0243/90
(TWINSUK)
- HGVS:
9.
rs1491368334 has merged into rs111854110 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 8:31111850
(GRCh38)
8:30969366
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31111839:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:31111839:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:31111839:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:31111839:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:31111839:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:31111839:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- WRN (Varview)
- Functional Consequence:
- intron_variant
- Clinical significance:
- benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0.00233/56
(
ALFA)
- HGVS:
NC_000008.11:g.31111850_31111852del, NC_000008.11:g.31111851_31111852del, NC_000008.11:g.31111852del, NC_000008.11:g.31111852dup, NC_000008.11:g.31111851_31111852dup, NC_000008.11:g.31111850_31111852dup, NC_000008.10:g.30969366_30969368del, NC_000008.10:g.30969367_30969368del, NC_000008.10:g.30969368del, NC_000008.10:g.30969368dup, NC_000008.10:g.30969367_30969368dup, NC_000008.10:g.30969366_30969368dup, NG_008870.1:g.83589_83591del, NG_008870.1:g.83590_83591del, NG_008870.1:g.83591del, NG_008870.1:g.83591dup, NG_008870.1:g.83590_83591dup, NG_008870.1:g.83589_83591dup
10.
rs1491317898 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 8:31114912
(GRCh38)
8:30972428
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31114894:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:31114894:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:31114894:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:31114894:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- WRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000008.11:g.31114912_31114913del, NC_000008.11:g.31114913del, NC_000008.11:g.31114913dup, NC_000008.11:g.31114912_31114913dup, NC_000008.10:g.30972428_30972429del, NC_000008.10:g.30972429del, NC_000008.10:g.30972429dup, NC_000008.10:g.30972428_30972429dup, NG_008870.1:g.86651_86652del, NG_008870.1:g.86652del, NG_008870.1:g.86652dup, NG_008870.1:g.86651_86652dup
11.
rs1491312873 has merged into rs142679273 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGT>-,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 8:31092443
(GRCh38)
8:30949959
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGT,NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- WRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
TG=0.447085/2239
(1000Genomes)
- HGVS:
NC_000008.11:g.31092441GT[1], NC_000008.11:g.31092441GT[7], NC_000008.11:g.31092441GT[8], NC_000008.11:g.31092441GT[9], NC_000008.11:g.31092441GT[11], NC_000008.11:g.31092441GT[12], NC_000008.11:g.31092441GT[13], NC_000008.11:g.31092441GT[14], NC_000008.10:g.30949957GT[1], NC_000008.10:g.30949957GT[7], NC_000008.10:g.30949957GT[8], NC_000008.10:g.30949957GT[9], NC_000008.10:g.30949957GT[11], NC_000008.10:g.30949957GT[12], NC_000008.10:g.30949957GT[13], NC_000008.10:g.30949957GT[14], NG_008870.1:g.64180GT[1], NG_008870.1:g.64180GT[7], NG_008870.1:g.64180GT[8], NG_008870.1:g.64180GT[9], NG_008870.1:g.64180GT[11], NG_008870.1:g.64180GT[12], NG_008870.1:g.64180GT[13], NG_008870.1:g.64180GT[14]
12.
rs1491305824 has merged into rs71208103 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:31131967
(GRCh38)
8:30989483
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- WRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.1227/473
(ALSPAC)
TT=0.3956/1981
(1000Genomes)
- HGVS:
NC_000008.11:g.31131967_31131977del, NC_000008.11:g.31131969_31131977del, NC_000008.11:g.31131970_31131977del, NC_000008.11:g.31131971_31131977del, NC_000008.11:g.31131972_31131977del, NC_000008.11:g.31131973_31131977del, NC_000008.11:g.31131974_31131977del, NC_000008.11:g.31131975_31131977del, NC_000008.11:g.31131976_31131977del, NC_000008.11:g.31131977del, NC_000008.11:g.31131977dup, NC_000008.11:g.31131976_31131977dup, NC_000008.11:g.31131975_31131977dup, NC_000008.11:g.31131974_31131977dup, NC_000008.10:g.30989483_30989493del, NC_000008.10:g.30989485_30989493del, NC_000008.10:g.30989486_30989493del, NC_000008.10:g.30989487_30989493del, NC_000008.10:g.30989488_30989493del, NC_000008.10:g.30989489_30989493del, NC_000008.10:g.30989490_30989493del, NC_000008.10:g.30989491_30989493del, NC_000008.10:g.30989492_30989493del, NC_000008.10:g.30989493del, NC_000008.10:g.30989493dup, NC_000008.10:g.30989492_30989493dup, NC_000008.10:g.30989491_30989493dup, NC_000008.10:g.30989490_30989493dup, NG_008870.1:g.103706_103716del, NG_008870.1:g.103708_103716del, NG_008870.1:g.103709_103716del, NG_008870.1:g.103710_103716del, NG_008870.1:g.103711_103716del, NG_008870.1:g.103712_103716del, NG_008870.1:g.103713_103716del, NG_008870.1:g.103714_103716del, NG_008870.1:g.103715_103716del, NG_008870.1:g.103716del, NG_008870.1:g.103716dup, NG_008870.1:g.103715_103716dup, NG_008870.1:g.103714_103716dup, NG_008870.1:g.103713_103716dup
14.
rs1491251570 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 8:31159944
(GRCh38)
8:31017460
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31159943:CA:
- Gene:
- WRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00701/27
(ALSPAC)
-=0.0116/43
(TWINSUK)
- HGVS:
16.
rs1491173839 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 8:31125538
(GRCh38)
8:30983055
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31125538:T:TT
- Gene:
- WRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.00007/1
(GnomAD)
- HGVS:
17.
rs1491167293 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 8:31083894
(GRCh38)
8:30941410
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31083892:TAT:T
- Gene:
- WRN (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
18.
rs1491166298 has merged into rs60617461 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AATGAATGAATGAATGAATG>-,AATG,AATGAATG,AATGAATGAATG,AATGAATGAATGAATG,AATGAATGAATGAATGAATGAATG,AATGAATGAATGAATGAATGAATGAATG,AATGAATGAATGAATGAATGAATGAATGAATG,AATGAATGAATGAATGAATGAATGAATGAATGAATG
[Show Flanks]
- Chromosome:
- 8:31136854
(GRCh38)
8:30994370
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATGAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATG
- Gene:
- WRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAATGAATGAATGAATGAATG=0./0
(
ALFA)
- HGVS:
NC_000008.11:g.31136838AATG[4], NC_000008.11:g.31136838AATG[5], NC_000008.11:g.31136838AATG[6], NC_000008.11:g.31136838AATG[7], NC_000008.11:g.31136838AATG[8], NC_000008.11:g.31136838AATG[10], NC_000008.11:g.31136838AATG[11], NC_000008.11:g.31136838AATG[12], NC_000008.11:g.31136838AATG[13], NC_000008.10:g.30994354AATG[4], NC_000008.10:g.30994354AATG[5], NC_000008.10:g.30994354AATG[6], NC_000008.10:g.30994354AATG[7], NC_000008.10:g.30994354AATG[8], NC_000008.10:g.30994354AATG[10], NC_000008.10:g.30994354AATG[11], NC_000008.10:g.30994354AATG[12], NC_000008.10:g.30994354AATG[13], NG_008870.1:g.108577AATG[4], NG_008870.1:g.108577AATG[5], NG_008870.1:g.108577AATG[6], NG_008870.1:g.108577AATG[7], NG_008870.1:g.108577AATG[8], NG_008870.1:g.108577AATG[10], NG_008870.1:g.108577AATG[11], NG_008870.1:g.108577AATG[12], NG_008870.1:g.108577AATG[13]
19.
rs1491157472 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 8:31060378
(GRCh38)
8:30917894
(GRCh37)
- Canonical SPDI:
- NC_000008.11:31060377:GT:
- Gene:
- WRN (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS: