Links from Gene
Items: 1 to 20 of 1000
1.
rs1491569124 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:18220776
(GRCh38)
6:18221007
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18220775:CT:
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491506770 has merged into rs34558185 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:18183269
(GRCh38)
6:18183500
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18183258:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.18183269_18183284del, NC_000006.12:g.18183270_18183284del, NC_000006.12:g.18183271_18183284del, NC_000006.12:g.18183272_18183284del, NC_000006.12:g.18183273_18183284del, NC_000006.12:g.18183274_18183284del, NC_000006.12:g.18183275_18183284del, NC_000006.12:g.18183276_18183284del, NC_000006.12:g.18183277_18183284del, NC_000006.12:g.18183278_18183284del, NC_000006.12:g.18183279_18183284del, NC_000006.12:g.18183280_18183284del, NC_000006.12:g.18183281_18183284del, NC_000006.12:g.18183282_18183284del, NC_000006.12:g.18183283_18183284del, NC_000006.12:g.18183284del, NC_000006.12:g.18183284dup, NC_000006.12:g.18183283_18183284dup, NC_000006.12:g.18183282_18183284dup, NC_000006.12:g.18183281_18183284dup, NC_000006.12:g.18183280_18183284dup, NC_000006.12:g.18183279_18183284dup, NC_000006.12:g.18183278_18183284dup, NC_000006.12:g.18183277_18183284dup, NC_000006.12:g.18183276_18183284dup, NC_000006.12:g.18183284_18183285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.18183284_18183285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.18183500_18183515del, NC_000006.11:g.18183501_18183515del, NC_000006.11:g.18183502_18183515del, NC_000006.11:g.18183503_18183515del, NC_000006.11:g.18183504_18183515del, NC_000006.11:g.18183505_18183515del, NC_000006.11:g.18183506_18183515del, NC_000006.11:g.18183507_18183515del, NC_000006.11:g.18183508_18183515del, NC_000006.11:g.18183509_18183515del, NC_000006.11:g.18183510_18183515del, NC_000006.11:g.18183511_18183515del, NC_000006.11:g.18183512_18183515del, NC_000006.11:g.18183513_18183515del, NC_000006.11:g.18183514_18183515del, NC_000006.11:g.18183515del, NC_000006.11:g.18183515dup, NC_000006.11:g.18183514_18183515dup, NC_000006.11:g.18183513_18183515dup, NC_000006.11:g.18183512_18183515dup, NC_000006.11:g.18183511_18183515dup, NC_000006.11:g.18183510_18183515dup, NC_000006.11:g.18183509_18183515dup, NC_000006.11:g.18183508_18183515dup, NC_000006.11:g.18183507_18183515dup, NC_000006.11:g.18183515_18183516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.18183515_18183516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491496539 has merged into rs11323463 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:18203866
(GRCh38)
6:18204097
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18203852:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:18203852:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:18203852:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:18203852:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:18203852:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:18203852:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:18203852:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:18203852:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18203852:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.4495/2251
(1000Genomes)
- HGVS:
NC_000006.12:g.18203866_18203870del, NC_000006.12:g.18203867_18203870del, NC_000006.12:g.18203868_18203870del, NC_000006.12:g.18203869_18203870del, NC_000006.12:g.18203870del, NC_000006.12:g.18203870dup, NC_000006.12:g.18203869_18203870dup, NC_000006.12:g.18203868_18203870dup, NC_000006.12:g.18203863_18203870dup, NC_000006.11:g.18204097_18204101del, NC_000006.11:g.18204098_18204101del, NC_000006.11:g.18204099_18204101del, NC_000006.11:g.18204100_18204101del, NC_000006.11:g.18204101del, NC_000006.11:g.18204101dup, NC_000006.11:g.18204100_18204101dup, NC_000006.11:g.18204099_18204101dup, NC_000006.11:g.18204094_18204101dup
4.
rs1491410476 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 6:18190437
(GRCh38)
6:18190669
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18190437::C
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00005/5
(GnomAD)
- HGVS:
6.
rs1491397670 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:18179850
(GRCh38)
6:18180081
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18179849:CT:
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.16228/1925
(
ALFA)
-=0.39207/5996
(TOMMO)
CT=0.48204/43159
(GnomAD)
- HGVS:
8.
rs1491379737 has merged into rs1167715268 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:18208640
(GRCh38)
6:18208871
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18208627:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.18208640_18208662del, NC_000006.12:g.18208641_18208662del, NC_000006.12:g.18208643_18208662del, NC_000006.12:g.18208645_18208662del, NC_000006.12:g.18208646_18208662del, NC_000006.12:g.18208647_18208662del, NC_000006.12:g.18208648_18208662del, NC_000006.12:g.18208649_18208662del, NC_000006.12:g.18208650_18208662del, NC_000006.12:g.18208651_18208662del, NC_000006.12:g.18208652_18208662del, NC_000006.12:g.18208653_18208662del, NC_000006.12:g.18208654_18208662del, NC_000006.12:g.18208655_18208662del, NC_000006.12:g.18208656_18208662del, NC_000006.12:g.18208657_18208662del, NC_000006.12:g.18208658_18208662del, NC_000006.12:g.18208659_18208662del, NC_000006.12:g.18208660_18208662del, NC_000006.12:g.18208661_18208662del, NC_000006.12:g.18208662del, NC_000006.12:g.18208662dup, NC_000006.12:g.18208661_18208662dup, NC_000006.12:g.18208660_18208662dup, NC_000006.12:g.18208658_18208662dup, NC_000006.12:g.18208654_18208662dup, NC_000006.11:g.18208871_18208893del, NC_000006.11:g.18208872_18208893del, NC_000006.11:g.18208874_18208893del, NC_000006.11:g.18208876_18208893del, NC_000006.11:g.18208877_18208893del, NC_000006.11:g.18208878_18208893del, NC_000006.11:g.18208879_18208893del, NC_000006.11:g.18208880_18208893del, NC_000006.11:g.18208881_18208893del, NC_000006.11:g.18208882_18208893del, NC_000006.11:g.18208883_18208893del, NC_000006.11:g.18208884_18208893del, NC_000006.11:g.18208885_18208893del, NC_000006.11:g.18208886_18208893del, NC_000006.11:g.18208887_18208893del, NC_000006.11:g.18208888_18208893del, NC_000006.11:g.18208889_18208893del, NC_000006.11:g.18208890_18208893del, NC_000006.11:g.18208891_18208893del, NC_000006.11:g.18208892_18208893del, NC_000006.11:g.18208893del, NC_000006.11:g.18208893dup, NC_000006.11:g.18208892_18208893dup, NC_000006.11:g.18208891_18208893dup, NC_000006.11:g.18208889_18208893dup, NC_000006.11:g.18208885_18208893dup
9.
rs1491374459 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCACACAC
[Show Flanks]
- Chromosome:
- 6:18186974
(GRCh38)
6:18187206
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18186974:CACACAC:CACACACTCACACAC
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CACACACTCACACAC=0./0
(
ALFA)
CACACACT=0.000004/1
(TOPMED)
- HGVS:
10.
rs1491350295 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 6:18199008
(GRCh38)
6:18199239
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18199006:AGA:A
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
-=0.00002/1
(GnomAD)
-=0.00016/4
(TOMMO)
- HGVS:
11.
rs1491350264 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATAA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA,ATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATA,ATATATATATATATATATATATATATG,ATATATATATATATATATATC,ATATATATATATATATATATG,ATATATATATATATATATATGTA,ATATATATATATATATATG,ATATATATATATATGTATATATATATATGTA,ATATATATATATGTATA,ATATATATATATGTATATA,ATATATATATATGTATATATATATATA,ATATATATATATGTATATATATATATATATATATA,ATATATATATGTATA,ATATATATATGTATATATATATA,ATATATATATGTATATATATATATATGTATATATATATA,ATATATATATGTATATATATATATATGTATATATATATATATGTATA,ATATATATGTATATATATATA,ATATATGTATATATATATATATGTGTATATATATATATATA,ATGTATATATATATATGTATATA,ATGTATATATATATATGTATATATATATATATATACGTATATATATATA
[Show Flanks]
- Chromosome:
- 6:18208628
(GRCh38)
6:18208860
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18208628::A,NC_000006.12:18208628::ATA,NC_000006.12:18208628::ATATA,NC_000006.12:18208628::ATATATA,NC_000006.12:18208628::ATATATATA,NC_000006.12:18208628::ATATATATATA,NC_000006.12:18208628::ATATATATATATA,NC_000006.12:18208628::ATATATATATATATA,NC_000006.12:18208628::ATATATATATATATAA,NC_000006.12:18208628::ATATATATATATATATA,NC_000006.12:18208628::ATATATATATATATATATA,NC_000006.12:18208628::ATATATATATATATATATATA,NC_000006.12:18208628::ATATATATATATATATATATATA,NC_000006.12:18208628::ATATATATATATATATATATATATA,NC_000006.12:18208628::ATATATATATATATATATATATATATA,NC_000006.12:18208628::ATATATATATATATATATATATATATATA,NC_000006.12:18208628::ATATATATATATATATATATATATATG,NC_000006.12:18208628::ATATATATATATATATATATC,NC_000006.12:18208628::ATATATATATATATATATATG,NC_000006.12:18208628::ATATATATATATATATATATGTA,NC_000006.12:18208628::ATATATATATATATATATG,NC_000006.12:18208628::ATATATATATATATGTATATATATATATGTA,NC_000006.12:18208628::ATATATATATATGTATA,NC_000006.12:18208628::ATATATATATATGTATATA,NC_000006.12:18208628::ATATATATATATGTATATATATATATA,NC_000006.12:18208628::ATATATATATATGTATATATATATATATATATATA,NC_000006.12:18208628::ATATATATATGTATA,NC_000006.12:18208628::ATATATATATGTATATATATATA,NC_000006.12:18208628::ATATATATATGTATATATATATATATGTATATATATATA,NC_000006.12:18208628::ATATATATATGTATATATATATATATGTATATATATATATATGTATA,NC_000006.12:18208628::ATATATATGTATATATATATA,NC_000006.12:18208628::ATATATGTATATATATATATATGTGTATATATATATATATA,NC_000006.12:18208628::ATGTATATATATATATGTATATA,NC_000006.12:18208628::ATGTATATATATATATGTATATATATATATATATACGTATATATATATA
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0./0
(
ALFA)
ATATATATATATA=0.00196/2
(Korea1K)
ATATATATATATATATATA=0.01892/7
(NorthernSweden)
- HGVS:
NC_000006.12:g.18208628_18208629insA, NC_000006.12:g.18208628_18208629insATA, NC_000006.12:g.18208628_18208629insATATA, NC_000006.12:g.18208628_18208629insATATATA, NC_000006.12:g.18208628_18208629insATATATATA, NC_000006.12:g.18208628_18208629insATATATATATA, NC_000006.12:g.18208628_18208629insATATATATATATA, NC_000006.12:g.18208628_18208629insATATATATATATATA, NC_000006.12:g.18208628_18208629insATATATATATATATAA, NC_000006.12:g.18208628_18208629insATATATATATATATATA, NC_000006.12:g.18208628_18208629insATATATATATATATATATA, NC_000006.12:g.18208628_18208629insATATATATATATATATATATA, NC_000006.12:g.18208628_18208629insATATATATATATATATATATATA, NC_000006.12:g.18208628_18208629insATATATATATATATATATATATATA, NC_000006.12:g.18208628_18208629insATATATATATATATATATATATATATA, NC_000006.12:g.18208628_18208629insATATATATATATATATATATATATATATA, NC_000006.12:g.18208628_18208629insATATATATATATATATATATATATATG, NC_000006.12:g.18208628_18208629insATATATATATATATATATATC, NC_000006.12:g.18208628_18208629insATATATATATATATATATATG, NC_000006.12:g.18208628_18208629insATATATATATATATATATATGTA, NC_000006.12:g.18208628_18208629insATATATATATATATATATG, NC_000006.12:g.18208628_18208629insATATATATATATATGTATATATATATATGTA, NC_000006.12:g.18208628_18208629insATATATATATATGTATA, NC_000006.12:g.18208628_18208629insATATATATATATGTATATA, NC_000006.12:g.18208628_18208629insATATATATATATGTATATATATATATA, NC_000006.12:g.18208628_18208629insATATATATATATGTATATATATATATATATATATA, NC_000006.12:g.18208628_18208629insATATATATATGTATA, NC_000006.12:g.18208628_18208629insATATATATATGTATATATATATA, NC_000006.12:g.18208628_18208629insATATATATATGTATATATATATATATGTATATATATATA, NC_000006.12:g.18208628_18208629insATATATATATGTATATATATATATATGTATATATATATATATGTATA, NC_000006.12:g.18208628_18208629insATATATATGTATATATATATA, NC_000006.12:g.18208628_18208629insATATATGTATATATATATATATGTGTATATATATATATATA, NC_000006.12:g.18208628_18208629insATGTATATATATATATGTATATA, NC_000006.12:g.18208628_18208629insATGTATATATATATATGTATATATATATATATATACGTATATATATATA, NC_000006.11:g.18208859_18208860insA, NC_000006.11:g.18208859_18208860insATA, NC_000006.11:g.18208859_18208860insATATA, NC_000006.11:g.18208859_18208860insATATATA, NC_000006.11:g.18208859_18208860insATATATATA, NC_000006.11:g.18208859_18208860insATATATATATA, NC_000006.11:g.18208859_18208860insATATATATATATA, NC_000006.11:g.18208859_18208860insATATATATATATATA, NC_000006.11:g.18208859_18208860insATATATATATATATAA, NC_000006.11:g.18208859_18208860insATATATATATATATATA, NC_000006.11:g.18208859_18208860insATATATATATATATATATA, NC_000006.11:g.18208859_18208860insATATATATATATATATATATA, NC_000006.11:g.18208859_18208860insATATATATATATATATATATATA, NC_000006.11:g.18208859_18208860insATATATATATATATATATATATATA, NC_000006.11:g.18208859_18208860insATATATATATATATATATATATATATA, NC_000006.11:g.18208859_18208860insATATATATATATATATATATATATATATA, NC_000006.11:g.18208859_18208860insATATATATATATATATATATATATATG, NC_000006.11:g.18208859_18208860insATATATATATATATATATATC, NC_000006.11:g.18208859_18208860insATATATATATATATATATATG, NC_000006.11:g.18208859_18208860insATATATATATATATATATATGTA, NC_000006.11:g.18208859_18208860insATATATATATATATATATG, NC_000006.11:g.18208859_18208860insATATATATATATATGTATATATATATATGTA, NC_000006.11:g.18208859_18208860insATATATATATATGTATA, NC_000006.11:g.18208859_18208860insATATATATATATGTATATA, NC_000006.11:g.18208859_18208860insATATATATATATGTATATATATATATA, NC_000006.11:g.18208859_18208860insATATATATATATGTATATATATATATATATATATA, NC_000006.11:g.18208859_18208860insATATATATATGTATA, NC_000006.11:g.18208859_18208860insATATATATATGTATATATATATA, NC_000006.11:g.18208859_18208860insATATATATATGTATATATATATATATGTATATATATATA, NC_000006.11:g.18208859_18208860insATATATATATGTATATATATATATATGTATATATATATATATGTATA, NC_000006.11:g.18208859_18208860insATATATATGTATATATATATA, NC_000006.11:g.18208859_18208860insATATATGTATATATATATATATGTGTATATATATATATATA, NC_000006.11:g.18208859_18208860insATGTATATATATATATGTATATA, NC_000006.11:g.18208859_18208860insATGTATATATATATATGTATATATATATATATATACGTATATATATATA
12.
rs1491329506 has merged into rs1554148422 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 6:18202248
(GRCh38)
6:18202479
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18202246:GCG:G
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000029/4
(GnomAD)
- HGVS:
13.
rs1491329028 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 6:18199007
(GRCh38)
6:18199239
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18199007:G:GG
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
14.
rs1491317526 has merged into rs59766756 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 6:18190450
(GRCh38)
6:18190681
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18190436:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:18190436:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:18190436:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:18190436:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:18190436:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:18190436:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.03378/20
(NorthernSweden)
- HGVS:
NC_000006.12:g.18190450_18190452del, NC_000006.12:g.18190451_18190452del, NC_000006.12:g.18190452del, NC_000006.12:g.18190452dup, NC_000006.12:g.18190451_18190452dup, NC_000006.12:g.18190450_18190452dup, NC_000006.11:g.18190681_18190683del, NC_000006.11:g.18190682_18190683del, NC_000006.11:g.18190683del, NC_000006.11:g.18190683dup, NC_000006.11:g.18190682_18190683dup, NC_000006.11:g.18190681_18190683dup
15.
rs1491266636 has merged into rs777242091 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 6:18220785
(GRCh38)
6:18221016
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18220776:TTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:18220776:TTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:18220776:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:18220776:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:18220776:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:18220776:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:18220776:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:18220776:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
T=0.00315/53
(TOMMO)
-=0.025/1
(GENOME_DK)
- HGVS:
NC_000006.12:g.18220785_18220789del, NC_000006.12:g.18220786_18220789del, NC_000006.12:g.18220787_18220789del, NC_000006.12:g.18220788_18220789del, NC_000006.12:g.18220789del, NC_000006.12:g.18220789dup, NC_000006.12:g.18220788_18220789dup, NC_000006.12:g.18220787_18220789dup, NC_000006.11:g.18221016_18221020del, NC_000006.11:g.18221017_18221020del, NC_000006.11:g.18221018_18221020del, NC_000006.11:g.18221019_18221020del, NC_000006.11:g.18221020del, NC_000006.11:g.18221020dup, NC_000006.11:g.18221019_18221020dup, NC_000006.11:g.18221018_18221020dup
16.
rs1491230704 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 6:18183284
(GRCh38)
6:18183515
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18183283:TG:
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00025/3
(
ALFA)
-=0.00132/37
(TOMMO)
- HGVS:
17.
rs1491182370 has merged into rs67156330 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:18179868
(GRCh38)
6:18180099
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18179850:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:18179850:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:18179850:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:18179850:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18179850:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18179850:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18179850:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18179850:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18179850:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18179850:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18179850:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18179850:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18179850:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.0025/34
(TOMMO)
- HGVS:
NC_000006.12:g.18179868_18179878del, NC_000006.12:g.18179869_18179878del, NC_000006.12:g.18179870_18179878del, NC_000006.12:g.18179872_18179878del, NC_000006.12:g.18179873_18179878del, NC_000006.12:g.18179874_18179878del, NC_000006.12:g.18179875_18179878del, NC_000006.12:g.18179878del, NC_000006.12:g.18179878dup, NC_000006.12:g.18179877_18179878dup, NC_000006.12:g.18179876_18179878dup, NC_000006.12:g.18179875_18179878dup, NC_000006.12:g.18179871_18179878dup, NC_000006.11:g.18180099_18180109del, NC_000006.11:g.18180100_18180109del, NC_000006.11:g.18180101_18180109del, NC_000006.11:g.18180103_18180109del, NC_000006.11:g.18180104_18180109del, NC_000006.11:g.18180105_18180109del, NC_000006.11:g.18180106_18180109del, NC_000006.11:g.18180109del, NC_000006.11:g.18180109dup, NC_000006.11:g.18180108_18180109dup, NC_000006.11:g.18180107_18180109dup, NC_000006.11:g.18180106_18180109dup, NC_000006.11:g.18180102_18180109dup
18.
rs1491113410 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTT
[Show Flanks]
- Chromosome:
- 6:18183259
(GRCh38)
6:18183491
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18183259:TT:TTGTT
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTGTT=0./0
(
ALFA)
TTG=0.0005/3
(GnomAD)
- HGVS:
19.
rs1491063335 has merged into rs541938365 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:18193200
(GRCh38)
6:18193431
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18193194:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.18193200_18193215del, NC_000006.12:g.18193204_18193215del, NC_000006.12:g.18193207_18193215del, NC_000006.12:g.18193208_18193215del, NC_000006.12:g.18193209_18193215del, NC_000006.12:g.18193210_18193215del, NC_000006.12:g.18193211_18193215del, NC_000006.12:g.18193212_18193215del, NC_000006.12:g.18193213_18193215del, NC_000006.12:g.18193214_18193215del, NC_000006.12:g.18193215del, NC_000006.12:g.18193215dup, NC_000006.12:g.18193214_18193215dup, NC_000006.12:g.18193213_18193215dup, NC_000006.12:g.18193212_18193215dup, NC_000006.12:g.18193211_18193215dup, NC_000006.12:g.18193210_18193215dup, NC_000006.11:g.18193431_18193446del, NC_000006.11:g.18193435_18193446del, NC_000006.11:g.18193438_18193446del, NC_000006.11:g.18193439_18193446del, NC_000006.11:g.18193440_18193446del, NC_000006.11:g.18193441_18193446del, NC_000006.11:g.18193442_18193446del, NC_000006.11:g.18193443_18193446del, NC_000006.11:g.18193444_18193446del, NC_000006.11:g.18193445_18193446del, NC_000006.11:g.18193446del, NC_000006.11:g.18193446dup, NC_000006.11:g.18193445_18193446dup, NC_000006.11:g.18193444_18193446dup, NC_000006.11:g.18193443_18193446dup, NC_000006.11:g.18193442_18193446dup, NC_000006.11:g.18193441_18193446dup
20.
rs1491046239 has merged into rs71536775 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 6:18160747
(GRCh38)
6:18160978
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18160737:AAAAAAAAAAA:AAAAAAAAA,NC_000006.12:18160737:AAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:18160737:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:18160737:AAAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- KDM1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.3358/1245
(TWINSUK)
-=0.338/1583
(1000Genomes)
-=0.3487/348
(GoNL)
-=0.3503/1350
(ALSPAC)
-=0.3535/210
(NorthernSweden)
- HGVS: