Links from Nucleotide
Items: 1 to 20 of 84262
1.
rs1491586545 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:64156705
(GRCh38)
1:64622388
(GRCh37)
- Canonical SPDI:
- NC_000001.11:64156704:CA:
- Gene:
- ROR1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.03001/356
(
ALFA)
-=0.008/133
(TOMMO)
- HGVS:
2.
rs1491554088 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 1:63846171
(GRCh38)
1:64311843
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63846171::GTGTGTGTGTG
- Gene:
- ROR1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
GTGTGTGTGTG=0.00001/1
(GnomAD)
- HGVS:
3.
rs1491551778 has merged into rs34115831 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:63912135
(GRCh38)
1:64377806
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63912124:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:63912124:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:63912124:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:63912124:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:63912124:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:63912124:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:63912124:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:63912124:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:63912124:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ROR1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.2153/1078
(1000Genomes)
- HGVS:
NC_000001.11:g.63912135_63912142del, NC_000001.11:g.63912138_63912142del, NC_000001.11:g.63912139_63912142del, NC_000001.11:g.63912140_63912142del, NC_000001.11:g.63912141_63912142del, NC_000001.11:g.63912142del, NC_000001.11:g.63912142dup, NC_000001.11:g.63912141_63912142dup, NC_000001.11:g.63912133_63912142dup, NC_000001.10:g.64377806_64377813del, NC_000001.10:g.64377809_64377813del, NC_000001.10:g.64377810_64377813del, NC_000001.10:g.64377811_64377813del, NC_000001.10:g.64377812_64377813del, NC_000001.10:g.64377813del, NC_000001.10:g.64377813dup, NC_000001.10:g.64377812_64377813dup, NC_000001.10:g.64377804_64377813dup, NG_032801.2:g.143117_143124del, NG_032801.2:g.143120_143124del, NG_032801.2:g.143121_143124del, NG_032801.2:g.143122_143124del, NG_032801.2:g.143123_143124del, NG_032801.2:g.143124del, NG_032801.2:g.143124dup, NG_032801.2:g.143123_143124dup, NG_032801.2:g.143115_143124dup
5.
rs1491517439 has merged into rs140451468 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:64156717
(GRCh38)
1:64622400
(GRCh37)
- Canonical SPDI:
- NC_000001.11:64156705:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:64156705:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:64156705:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:64156705:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:64156705:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:64156705:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:64156705:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:64156705:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:64156705:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ROR1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.2724/1364
(1000Genomes)
- HGVS:
NC_000001.11:g.64156717_64156726del, NC_000001.11:g.64156720_64156726del, NC_000001.11:g.64156722_64156726del, NC_000001.11:g.64156723_64156726del, NC_000001.11:g.64156724_64156726del, NC_000001.11:g.64156725_64156726del, NC_000001.11:g.64156726del, NC_000001.11:g.64156726dup, NC_000001.11:g.64156725_64156726dup, NC_000001.10:g.64622400_64622409del, NC_000001.10:g.64622403_64622409del, NC_000001.10:g.64622405_64622409del, NC_000001.10:g.64622406_64622409del, NC_000001.10:g.64622407_64622409del, NC_000001.10:g.64622408_64622409del, NC_000001.10:g.64622409del, NC_000001.10:g.64622409dup, NC_000001.10:g.64622408_64622409dup, NG_032801.2:g.387699_387708del, NG_032801.2:g.387702_387708del, NG_032801.2:g.387704_387708del, NG_032801.2:g.387705_387708del, NG_032801.2:g.387706_387708del, NG_032801.2:g.387707_387708del, NG_032801.2:g.387708del, NG_032801.2:g.387708dup, NG_032801.2:g.387707_387708dup
6.
rs1491508467 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:64025585
(GRCh38)
1:64491258
(GRCh37)
- Canonical SPDI:
- NC_000001.11:64025585:T:TT
- Gene:
- ROR1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1491504116 has merged into rs3084945 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 1:64108078
(GRCh38)
1:64573761
(GRCh37)
- Canonical SPDI:
- NC_000001.11:64108060:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000001.11:64108060:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000001.11:64108060:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:64108060:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:64108060:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:64108060:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:64108060:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:64108060:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:64108060:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:64108060:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:64108060:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:64108060:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:64108060:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:64108060:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- ROR1 (Varview), ROR1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.64108062GT[8], NC_000001.11:g.64108062GT[9], NC_000001.11:g.64108062GT[10], NC_000001.11:g.64108062GT[11], NC_000001.11:g.64108062GT[12], NC_000001.11:g.64108062GT[13], NC_000001.11:g.64108062GT[14], NC_000001.11:g.64108062GT[15], NC_000001.11:g.64108062GT[16], NC_000001.11:g.64108062GT[17], NC_000001.11:g.64108062GT[18], NC_000001.11:g.64108062GT[20], NC_000001.11:g.64108062GT[21], NC_000001.11:g.64108062GT[22], NC_000001.10:g.64573745GT[8], NC_000001.10:g.64573745GT[9], NC_000001.10:g.64573745GT[10], NC_000001.10:g.64573745GT[11], NC_000001.10:g.64573745GT[12], NC_000001.10:g.64573745GT[13], NC_000001.10:g.64573745GT[14], NC_000001.10:g.64573745GT[15], NC_000001.10:g.64573745GT[16], NC_000001.10:g.64573745GT[17], NC_000001.10:g.64573745GT[18], NC_000001.10:g.64573745GT[20], NC_000001.10:g.64573745GT[21], NC_000001.10:g.64573745GT[22], NG_032801.2:g.339044GT[8], NG_032801.2:g.339044GT[9], NG_032801.2:g.339044GT[10], NG_032801.2:g.339044GT[11], NG_032801.2:g.339044GT[12], NG_032801.2:g.339044GT[13], NG_032801.2:g.339044GT[14], NG_032801.2:g.339044GT[15], NG_032801.2:g.339044GT[16], NG_032801.2:g.339044GT[17], NG_032801.2:g.339044GT[18], NG_032801.2:g.339044GT[20], NG_032801.2:g.339044GT[21], NG_032801.2:g.339044GT[22]
9.
rs1491470089 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:64032340
(GRCh38)
1:64498012
(GRCh37)
- Canonical SPDI:
- NC_000001.11:64032339:CA:
- Gene:
- ROR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00025/7
(TOMMO)
- HGVS:
10.
rs1491464998 has merged into rs782697527 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGA>-,GA,GAGAGA
[Show Flanks]
- Chromosome:
- 1:64083593
(GRCh38)
1:10
(GRCh37)
- Canonical SPDI:
- NC_000001.11:64083581:AGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000001.11:64083581:AGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000001.11:64083581:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA
- Gene:
- ROR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGA=0./0
(
ALFA)
AG=0.04252/25
(NorthernSweden)
-=0.04803/88
(Korea1K)
-=0.1346/862
(1000Genomes)
-=0.21614/833
(ALSPAC)
-=0.22869/848
(TWINSUK)
- HGVS:
11.
rs1491447707 has merged into rs71056008 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:63833999
(GRCh38)
1:64299670
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:63833990:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ROR1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.00003/8
(TOPMED)
-=0.075/3
(GENOME_DK)
-=0.163938/821
(1000Genomes)
T=0.25/2
(KOREAN)
- HGVS:
NC_000001.11:g.63833999_63834006del, NC_000001.11:g.63834002_63834006del, NC_000001.11:g.63834003_63834006del, NC_000001.11:g.63834004_63834006del, NC_000001.11:g.63834005_63834006del, NC_000001.11:g.63834006del, NC_000001.11:g.63834006dup, NC_000001.11:g.63834005_63834006dup, NC_000001.11:g.63834004_63834006dup, NC_000001.11:g.63834003_63834006dup, NC_000001.11:g.63834002_63834006dup, NC_000001.11:g.63834001_63834006dup, NC_000001.11:g.63834000_63834006dup, NC_000001.11:g.63833999_63834006dup, NC_000001.11:g.63833998_63834006dup, NC_000001.11:g.63833997_63834006dup, NC_000001.11:g.63833996_63834006dup, NC_000001.11:g.63833995_63834006dup, NC_000001.11:g.63833994_63834006dup, NC_000001.11:g.63833993_63834006dup, NC_000001.11:g.63833992_63834006dup, NC_000001.11:g.63833991_63834006dup, NC_000001.11:g.63834006_63834007insTTTTTTTTTTTTTTTTT, NC_000001.11:g.63834006_63834007insTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.63834006_63834007insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.64299670_64299677del, NC_000001.10:g.64299673_64299677del, NC_000001.10:g.64299674_64299677del, NC_000001.10:g.64299675_64299677del, NC_000001.10:g.64299676_64299677del, NC_000001.10:g.64299677del, NC_000001.10:g.64299677dup, NC_000001.10:g.64299676_64299677dup, NC_000001.10:g.64299675_64299677dup, NC_000001.10:g.64299674_64299677dup, NC_000001.10:g.64299673_64299677dup, NC_000001.10:g.64299672_64299677dup, NC_000001.10:g.64299671_64299677dup, NC_000001.10:g.64299670_64299677dup, NC_000001.10:g.64299669_64299677dup, NC_000001.10:g.64299668_64299677dup, NC_000001.10:g.64299667_64299677dup, NC_000001.10:g.64299666_64299677dup, NC_000001.10:g.64299665_64299677dup, NC_000001.10:g.64299664_64299677dup, NC_000001.10:g.64299663_64299677dup, NC_000001.10:g.64299662_64299677dup, NC_000001.10:g.64299677_64299678insTTTTTTTTTTTTTTTTT, NC_000001.10:g.64299677_64299678insTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.64299677_64299678insTTTTTTTTTTTTTTTTTTTTTT, NG_032801.2:g.64981_64988del, NG_032801.2:g.64984_64988del, NG_032801.2:g.64985_64988del, NG_032801.2:g.64986_64988del, NG_032801.2:g.64987_64988del, NG_032801.2:g.64988del, NG_032801.2:g.64988dup, NG_032801.2:g.64987_64988dup, NG_032801.2:g.64986_64988dup, NG_032801.2:g.64985_64988dup, NG_032801.2:g.64984_64988dup, NG_032801.2:g.64983_64988dup, NG_032801.2:g.64982_64988dup, NG_032801.2:g.64981_64988dup, NG_032801.2:g.64980_64988dup, NG_032801.2:g.64979_64988dup, NG_032801.2:g.64978_64988dup, NG_032801.2:g.64977_64988dup, NG_032801.2:g.64976_64988dup, NG_032801.2:g.64975_64988dup, NG_032801.2:g.64974_64988dup, NG_032801.2:g.64973_64988dup, NG_032801.2:g.64988_64989insTTTTTTTTTTTTTTTTT, NG_032801.2:g.64988_64989insTTTTTTTTTTTTTTTTTTTTT, NG_032801.2:g.64988_64989insTTTTTTTTTTTTTTTTTTTTTT
12.
rs1491447679 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:64073534
(GRCh38)
1:64539206
(GRCh37)
- Canonical SPDI:
- NC_000001.11:64073533:CT:
- Gene:
- ROR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000546/1
(Korea1K)
-=0.000672/11
(TOMMO)
- HGVS:
19.
rs1491376884 has merged into rs1241939075 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 1:64083607
(GRCh38)
1:64549287
(GRCh37)
- Canonical SPDI:
- NC_000001.11:64083595:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:64083595:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:64083595:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:64083595:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:64083595:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:64083595:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:64083595:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- ROR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.64083607_64083608del, NC_000001.11:g.64083608del, NC_000001.11:g.64083608dup, NC_000001.11:g.64083607_64083608dup, NC_000001.11:g.64083606_64083608dup, NC_000001.11:g.64083605_64083608dup, NC_000001.11:g.64083604_64083608dup, NC_000001.10:g.64549290_64549291del, NC_000001.10:g.64549291del, NC_000001.10:g.64549291dup, NC_000001.10:g.64549290_64549291dup, NC_000001.10:g.64549289_64549291dup, NC_000001.10:g.64549288_64549291dup, NC_000001.10:g.64549287_64549291dup, NG_032801.2:g.314589_314590del, NG_032801.2:g.314590del, NG_032801.2:g.314590dup, NG_032801.2:g.314589_314590dup, NG_032801.2:g.314588_314590dup, NG_032801.2:g.314587_314590dup, NG_032801.2:g.314586_314590dup
20.
rs1491327872 has merged into rs71056009 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 1:63846136
(GRCh38)
1:64311807
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:63846118:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- ROR1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
TGTGTGTGTGTGTGTGTGTGTG=0./0
(GENOME_DK)
-=0.267/1029
(ALSPAC)
- HGVS:
NC_000001.11:g.63846120GT[8], NC_000001.11:g.63846120GT[10], NC_000001.11:g.63846120GT[11], NC_000001.11:g.63846120GT[12], NC_000001.11:g.63846120GT[13], NC_000001.11:g.63846120GT[14], NC_000001.11:g.63846120GT[15], NC_000001.11:g.63846120GT[16], NC_000001.11:g.63846120GT[17], NC_000001.11:g.63846120GT[18], NC_000001.11:g.63846120GT[19], NC_000001.11:g.63846120GT[20], NC_000001.11:g.63846120GT[21], NC_000001.11:g.63846120GT[22], NC_000001.11:g.63846120GT[23], NC_000001.11:g.63846120GT[24], NC_000001.11:g.63846120GT[25], NC_000001.11:g.63846120GT[27], NC_000001.11:g.63846120GT[28], NC_000001.11:g.63846120GT[29], NC_000001.11:g.63846120GT[30], NC_000001.11:g.63846120GT[31], NC_000001.11:g.63846120GT[32], NC_000001.10:g.64311791GT[8], NC_000001.10:g.64311791GT[10], NC_000001.10:g.64311791GT[11], NC_000001.10:g.64311791GT[12], NC_000001.10:g.64311791GT[13], NC_000001.10:g.64311791GT[14], NC_000001.10:g.64311791GT[15], NC_000001.10:g.64311791GT[16], NC_000001.10:g.64311791GT[17], NC_000001.10:g.64311791GT[18], NC_000001.10:g.64311791GT[19], NC_000001.10:g.64311791GT[20], NC_000001.10:g.64311791GT[21], NC_000001.10:g.64311791GT[22], NC_000001.10:g.64311791GT[23], NC_000001.10:g.64311791GT[24], NC_000001.10:g.64311791GT[25], NC_000001.10:g.64311791GT[27], NC_000001.10:g.64311791GT[28], NC_000001.10:g.64311791GT[29], NC_000001.10:g.64311791GT[30], NC_000001.10:g.64311791GT[31], NC_000001.10:g.64311791GT[32], NG_032801.2:g.77102GT[8], NG_032801.2:g.77102GT[10], NG_032801.2:g.77102GT[11], NG_032801.2:g.77102GT[12], NG_032801.2:g.77102GT[13], NG_032801.2:g.77102GT[14], NG_032801.2:g.77102GT[15], NG_032801.2:g.77102GT[16], NG_032801.2:g.77102GT[17], NG_032801.2:g.77102GT[18], NG_032801.2:g.77102GT[19], NG_032801.2:g.77102GT[20], NG_032801.2:g.77102GT[21], NG_032801.2:g.77102GT[22], NG_032801.2:g.77102GT[23], NG_032801.2:g.77102GT[24], NG_032801.2:g.77102GT[25], NG_032801.2:g.77102GT[27], NG_032801.2:g.77102GT[28], NG_032801.2:g.77102GT[29], NG_032801.2:g.77102GT[30], NG_032801.2:g.77102GT[31], NG_032801.2:g.77102GT[32], XM_011541526.2:c.-45471GT[8], XM_011541526.2:c.-45471GT[10], XM_011541526.2:c.-45471GT[11], XM_011541526.2:c.-45471GT[12], XM_011541526.2:c.-45471GT[13], XM_011541526.2:c.-45471GT[14], XM_011541526.2:c.-45471GT[15], XM_011541526.2:c.-45471GT[16], XM_011541526.2:c.-45471GT[17], XM_011541526.2:c.-45471GT[18], XM_011541526.2:c.-45471GT[19], XM_011541526.2:c.-45471GT[20], XM_011541526.2:c.-45471GT[21], XM_011541526.2:c.-45471GT[22], XM_011541526.2:c.-45471GT[23], XM_011541526.2:c.-45471GT[24], XM_011541526.2:c.-45471GT[25], XM_011541526.2:c.-45471GT[27], XM_011541526.2:c.-45471GT[28], XM_011541526.2:c.-45471GT[29], XM_011541526.2:c.-45471GT[30], XM_011541526.2:c.-45471GT[31], XM_011541526.2:c.-45471GT[32]