Links from Gene
Items: 1 to 20 of 17772
1.
rs1491549975 has merged into rs552744891 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAACAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:47199108
(GRCh38)
3:47240598
(GRCh37)
- Canonical SPDI:
- NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KIF9-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.47199108_47199111del, NC_000003.12:g.47199109_47199111del, NC_000003.12:g.47199110_47199111del, NC_000003.12:g.47199111del, NC_000003.12:g.47199111dup, NC_000003.12:g.47199110_47199111dup, NC_000003.12:g.47199109_47199111dup, NC_000003.12:g.47199108_47199111dup, NC_000003.12:g.47199107_47199111dup, NC_000003.12:g.47199106_47199111dup, NC_000003.12:g.47199105_47199111dup, NC_000003.12:g.47199104_47199111dup, NC_000003.12:g.47199103_47199111dup, NC_000003.12:g.47199102_47199111dup, NC_000003.12:g.47199101_47199111dup, NC_000003.12:g.47199100_47199111dup, NC_000003.12:g.47199099_47199111dup, NC_000003.12:g.47199098_47199111dup, NC_000003.12:g.47199097_47199111dup, NC_000003.12:g.47199096_47199111dup, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199096_47199111A[16]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.47240598_47240601del, NC_000003.11:g.47240599_47240601del, NC_000003.11:g.47240600_47240601del, NC_000003.11:g.47240601del, NC_000003.11:g.47240601dup, NC_000003.11:g.47240600_47240601dup, NC_000003.11:g.47240599_47240601dup, NC_000003.11:g.47240598_47240601dup, NC_000003.11:g.47240597_47240601dup, NC_000003.11:g.47240596_47240601dup, NC_000003.11:g.47240595_47240601dup, NC_000003.11:g.47240594_47240601dup, NC_000003.11:g.47240593_47240601dup, NC_000003.11:g.47240592_47240601dup, NC_000003.11:g.47240591_47240601dup, NC_000003.11:g.47240590_47240601dup, NC_000003.11:g.47240589_47240601dup, NC_000003.11:g.47240588_47240601dup, NC_000003.11:g.47240587_47240601dup, NC_000003.11:g.47240586_47240601dup, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240586_47240601A[16]CAAAAAAAAAAAAAAAAAAAAAAAAA[1]
4.
rs1491503927 has merged into rs5848825 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:47218858
(GRCh38)
3:47260348
(GRCh37)
- Canonical SPDI:
- NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KIF9-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.3044/165
(NorthernSweden)
A=0.3444/1725
(1000Genomes)
- HGVS:
NC_000003.12:g.47218858_47218868del, NC_000003.12:g.47218860_47218868del, NC_000003.12:g.47218862_47218868del, NC_000003.12:g.47218863_47218868del, NC_000003.12:g.47218865_47218868del, NC_000003.12:g.47218866_47218868del, NC_000003.12:g.47218867_47218868del, NC_000003.12:g.47218868del, NC_000003.12:g.47218868dup, NC_000003.12:g.47218867_47218868dup, NC_000003.11:g.47260348_47260358del, NC_000003.11:g.47260350_47260358del, NC_000003.11:g.47260352_47260358del, NC_000003.11:g.47260353_47260358del, NC_000003.11:g.47260355_47260358del, NC_000003.11:g.47260356_47260358del, NC_000003.11:g.47260357_47260358del, NC_000003.11:g.47260358del, NC_000003.11:g.47260358dup, NC_000003.11:g.47260357_47260358dup
5.
rs1491471856 has merged into rs370197587 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:47217000
(GRCh38)
3:47258490
(GRCh37)
- Canonical SPDI:
- NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KIF9-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.025/1
(GENOME_DK)
- HGVS:
NC_000003.12:g.47217000_47217008del, NC_000003.12:g.47217002_47217008del, NC_000003.12:g.47217003_47217008del, NC_000003.12:g.47217005_47217008del, NC_000003.12:g.47217006_47217008del, NC_000003.12:g.47217007_47217008del, NC_000003.12:g.47217008del, NC_000003.12:g.47217008dup, NC_000003.12:g.47217007_47217008dup, NC_000003.12:g.47217006_47217008dup, NC_000003.12:g.47217005_47217008dup, NC_000003.12:g.47217004_47217008dup, NC_000003.12:g.47217003_47217008dup, NC_000003.12:g.47217002_47217008dup, NC_000003.12:g.47217001_47217008dup, NC_000003.12:g.47217000_47217008dup, NC_000003.12:g.47216999_47217008dup, NC_000003.12:g.47216998_47217008dup, NC_000003.12:g.47216996_47217008dup, NC_000003.12:g.47216994_47217008dup, NC_000003.11:g.47258490_47258498del, NC_000003.11:g.47258492_47258498del, NC_000003.11:g.47258493_47258498del, NC_000003.11:g.47258495_47258498del, NC_000003.11:g.47258496_47258498del, NC_000003.11:g.47258497_47258498del, NC_000003.11:g.47258498del, NC_000003.11:g.47258498dup, NC_000003.11:g.47258497_47258498dup, NC_000003.11:g.47258496_47258498dup, NC_000003.11:g.47258495_47258498dup, NC_000003.11:g.47258494_47258498dup, NC_000003.11:g.47258493_47258498dup, NC_000003.11:g.47258492_47258498dup, NC_000003.11:g.47258491_47258498dup, NC_000003.11:g.47258490_47258498dup, NC_000003.11:g.47258489_47258498dup, NC_000003.11:g.47258488_47258498dup, NC_000003.11:g.47258486_47258498dup, NC_000003.11:g.47258484_47258498dup
6.
rs1491443124 has merged into rs57998021 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:47194887
(GRCh38)
3:47236377
(GRCh37)
- Canonical SPDI:
- NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KIF9-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
T=0.255791/1281
(1000Genomes)
-=0.368421/14
(GENOME_DK)
- HGVS:
NC_000003.12:g.47194887_47194896del, NC_000003.12:g.47194889_47194896del, NC_000003.12:g.47194893_47194896del, NC_000003.12:g.47194894_47194896del, NC_000003.12:g.47194895_47194896del, NC_000003.12:g.47194896del, NC_000003.12:g.47194896dup, NC_000003.12:g.47194895_47194896dup, NC_000003.12:g.47194894_47194896dup, NC_000003.12:g.47194893_47194896dup, NC_000003.12:g.47194892_47194896dup, NC_000003.12:g.47194891_47194896dup, NC_000003.12:g.47194889_47194896dup, NC_000003.12:g.47194888_47194896dup, NC_000003.12:g.47194886_47194896dup, NC_000003.11:g.47236377_47236386del, NC_000003.11:g.47236379_47236386del, NC_000003.11:g.47236383_47236386del, NC_000003.11:g.47236384_47236386del, NC_000003.11:g.47236385_47236386del, NC_000003.11:g.47236386del, NC_000003.11:g.47236386dup, NC_000003.11:g.47236385_47236386dup, NC_000003.11:g.47236384_47236386dup, NC_000003.11:g.47236383_47236386dup, NC_000003.11:g.47236382_47236386dup, NC_000003.11:g.47236381_47236386dup, NC_000003.11:g.47236379_47236386dup, NC_000003.11:g.47236378_47236386dup, NC_000003.11:g.47236376_47236386dup
7.
rs1491420326 has merged into rs71098461 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:47190089
(GRCh38)
3:47231579
(GRCh37)
- Canonical SPDI:
- NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KIF9-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.47190089_47190106del, NC_000003.12:g.47190090_47190106del, NC_000003.12:g.47190091_47190106del, NC_000003.12:g.47190092_47190106del, NC_000003.12:g.47190093_47190106del, NC_000003.12:g.47190094_47190106del, NC_000003.12:g.47190095_47190106del, NC_000003.12:g.47190096_47190106del, NC_000003.12:g.47190097_47190106del, NC_000003.12:g.47190098_47190106del, NC_000003.12:g.47190099_47190106del, NC_000003.12:g.47190100_47190106del, NC_000003.12:g.47190101_47190106del, NC_000003.12:g.47190102_47190106del, NC_000003.12:g.47190103_47190106del, NC_000003.12:g.47190104_47190106del, NC_000003.12:g.47190105_47190106del, NC_000003.12:g.47190106del, NC_000003.12:g.47190106dup, NC_000003.12:g.47190105_47190106dup, NC_000003.12:g.47190104_47190106dup, NC_000003.12:g.47190102_47190106dup, NC_000003.12:g.47190101_47190106dup, NC_000003.12:g.47190098_47190106dup, NC_000003.12:g.47190097_47190106dup, NC_000003.12:g.47190096_47190106dup, NC_000003.12:g.47190095_47190106dup, NC_000003.12:g.47190094_47190106dup, NC_000003.12:g.47190090_47190106dup, NC_000003.12:g.47190078_47190106dup, NC_000003.11:g.47231579_47231596del, NC_000003.11:g.47231580_47231596del, NC_000003.11:g.47231581_47231596del, NC_000003.11:g.47231582_47231596del, NC_000003.11:g.47231583_47231596del, NC_000003.11:g.47231584_47231596del, NC_000003.11:g.47231585_47231596del, NC_000003.11:g.47231586_47231596del, NC_000003.11:g.47231587_47231596del, NC_000003.11:g.47231588_47231596del, NC_000003.11:g.47231589_47231596del, NC_000003.11:g.47231590_47231596del, NC_000003.11:g.47231591_47231596del, NC_000003.11:g.47231592_47231596del, NC_000003.11:g.47231593_47231596del, NC_000003.11:g.47231594_47231596del, NC_000003.11:g.47231595_47231596del, NC_000003.11:g.47231596del, NC_000003.11:g.47231596dup, NC_000003.11:g.47231595_47231596dup, NC_000003.11:g.47231594_47231596dup, NC_000003.11:g.47231592_47231596dup, NC_000003.11:g.47231591_47231596dup, NC_000003.11:g.47231588_47231596dup, NC_000003.11:g.47231587_47231596dup, NC_000003.11:g.47231586_47231596dup, NC_000003.11:g.47231585_47231596dup, NC_000003.11:g.47231584_47231596dup, NC_000003.11:g.47231580_47231596dup, NC_000003.11:g.47231568_47231596dup
10.
rs1491343644 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATAA,ATATATATATA,ATATATATATATA,ATATATATATATAA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATAA
[Show Flanks]
- Chromosome:
- 3:47190075
(GRCh38)
3:47231566
(GRCh37)
- Canonical SPDI:
- NC_000003.12:47190075::A,NC_000003.12:47190075::ATA,NC_000003.12:47190075::ATATA,NC_000003.12:47190075::ATATATA,NC_000003.12:47190075::ATATATATA,NC_000003.12:47190075::ATATATATAA,NC_000003.12:47190075::ATATATATATA,NC_000003.12:47190075::ATATATATATATA,NC_000003.12:47190075::ATATATATATATAA,NC_000003.12:47190075::ATATATATATATATA,NC_000003.12:47190075::ATATATATATATATATA,NC_000003.12:47190075::ATATATATATATATATAA
- Gene:
- KIF9-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.47190075_47190076insA, NC_000003.12:g.47190075_47190076insATA, NC_000003.12:g.47190075_47190076insATATA, NC_000003.12:g.47190075_47190076insATATATA, NC_000003.12:g.47190075_47190076insATATATATA, NC_000003.12:g.47190075_47190076insATATATATAA, NC_000003.12:g.47190075_47190076insATATATATATA, NC_000003.12:g.47190075_47190076insATATATATATATA, NC_000003.12:g.47190075_47190076insATATATATATATAA, NC_000003.12:g.47190075_47190076insATATATATATATATA, NC_000003.12:g.47190075_47190076insATATATATATATATATA, NC_000003.12:g.47190075_47190076insATATATATATATATATAA, NC_000003.11:g.47231565_47231566insA, NC_000003.11:g.47231565_47231566insATA, NC_000003.11:g.47231565_47231566insATATA, NC_000003.11:g.47231565_47231566insATATATA, NC_000003.11:g.47231565_47231566insATATATATA, NC_000003.11:g.47231565_47231566insATATATATAA, NC_000003.11:g.47231565_47231566insATATATATATA, NC_000003.11:g.47231565_47231566insATATATATATATA, NC_000003.11:g.47231565_47231566insATATATATATATAA, NC_000003.11:g.47231565_47231566insATATATATATATATA, NC_000003.11:g.47231565_47231566insATATATATATATATATA, NC_000003.11:g.47231565_47231566insATATATATATATATATAA
11.
rs1491319975 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATACACATATATATATATATA,ATATATA
[Show Flanks]
- Chromosome:
- 3:47241885
(GRCh38)
3:47283376
(GRCh37)
- Canonical SPDI:
- NC_000003.12:47241885::A,NC_000003.12:47241885::ATA,NC_000003.12:47241885::ATATA,NC_000003.12:47241885::ATATACACATATATATATATATA,NC_000003.12:47241885::ATATATA
- Gene:
- KIF9 (Varview), KIF9-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
12.
rs1491318995 has merged into rs34505913 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:47183204
(GRCh38)
3:47224694
(GRCh37)
- Canonical SPDI:
- NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KIF9-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
A=0.3524/1765
(1000Genomes)
- HGVS:
NC_000003.12:g.47183204_47183216del, NC_000003.12:g.47183205_47183216del, NC_000003.12:g.47183206_47183216del, NC_000003.12:g.47183207_47183216del, NC_000003.12:g.47183208_47183216del, NC_000003.12:g.47183209_47183216del, NC_000003.12:g.47183210_47183216del, NC_000003.12:g.47183211_47183216del, NC_000003.12:g.47183212_47183216del, NC_000003.12:g.47183213_47183216del, NC_000003.12:g.47183214_47183216del, NC_000003.12:g.47183215_47183216del, NC_000003.12:g.47183216del, NC_000003.12:g.47183216dup, NC_000003.12:g.47183215_47183216dup, NC_000003.12:g.47183214_47183216dup, NC_000003.12:g.47183213_47183216dup, NC_000003.12:g.47183211_47183216dup, NC_000003.11:g.47224694_47224706del, NC_000003.11:g.47224695_47224706del, NC_000003.11:g.47224696_47224706del, NC_000003.11:g.47224697_47224706del, NC_000003.11:g.47224698_47224706del, NC_000003.11:g.47224699_47224706del, NC_000003.11:g.47224700_47224706del, NC_000003.11:g.47224701_47224706del, NC_000003.11:g.47224702_47224706del, NC_000003.11:g.47224703_47224706del, NC_000003.11:g.47224704_47224706del, NC_000003.11:g.47224705_47224706del, NC_000003.11:g.47224706del, NC_000003.11:g.47224706dup, NC_000003.11:g.47224705_47224706dup, NC_000003.11:g.47224704_47224706dup, NC_000003.11:g.47224703_47224706dup, NC_000003.11:g.47224701_47224706dup
13.
rs1491316735 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 3:47241900
(GRCh38)
3:47283390
(GRCh37)
- Canonical SPDI:
- NC_000003.12:47241898:TCT:T
- Gene:
- KIF9 (Varview), KIF9-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.00149/25
(TOMMO)
- HGVS:
14.
rs1491284135 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 3:47181451
(GRCh38)
3:47222942
(GRCh37)
- Canonical SPDI:
- NC_000003.12:47181451::C
- Gene:
- KIF9-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00004/1
(GnomAD)
- HGVS:
16.
rs1491280982 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CACG,CACT
[Show Flanks]
- Chromosome:
- 3:47241866
(GRCh38)
3:47283357
(GRCh37)
- Canonical SPDI:
- NC_000003.12:47241866::CACG,NC_000003.12:47241866::CACT
- Gene:
- KIF9 (Varview), KIF9-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CACT=0./0
(
ALFA)
CACG=0.000004/1
(TOPMED)
- HGVS:
17.
rs1491260673 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:47177510
(GRCh38)
3:47219000
(GRCh37)
- Canonical SPDI:
- NC_000003.12:47177507:CACA:CA
- Gene:
- KIF9-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CACA=0.01189/141
(
ALFA)
-=0.00088/56
(GnomAD)
- HGVS:
18.
rs1491258267 has merged into rs966425803 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:47233373
(GRCh38)
3:47274863
(GRCh37)
- Canonical SPDI:
- NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KIF9 (Varview), KIF9-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AAAAAA=0.00346/2
(NorthernSweden)
- HGVS:
NC_000003.12:g.47233373_47233386del, NC_000003.12:g.47233375_47233386del, NC_000003.12:g.47233376_47233386del, NC_000003.12:g.47233377_47233386del, NC_000003.12:g.47233380_47233386del, NC_000003.12:g.47233381_47233386del, NC_000003.12:g.47233382_47233386del, NC_000003.12:g.47233383_47233386del, NC_000003.12:g.47233384_47233386del, NC_000003.12:g.47233385_47233386del, NC_000003.12:g.47233386del, NC_000003.12:g.47233386dup, NC_000003.12:g.47233385_47233386dup, NC_000003.12:g.47233384_47233386dup, NC_000003.12:g.47233383_47233386dup, NC_000003.12:g.47233381_47233386dup, NC_000003.12:g.47233373_47233386dup, NC_000003.11:g.47274863_47274876del, NC_000003.11:g.47274865_47274876del, NC_000003.11:g.47274866_47274876del, NC_000003.11:g.47274867_47274876del, NC_000003.11:g.47274870_47274876del, NC_000003.11:g.47274871_47274876del, NC_000003.11:g.47274872_47274876del, NC_000003.11:g.47274873_47274876del, NC_000003.11:g.47274874_47274876del, NC_000003.11:g.47274875_47274876del, NC_000003.11:g.47274876del, NC_000003.11:g.47274876dup, NC_000003.11:g.47274875_47274876dup, NC_000003.11:g.47274874_47274876dup, NC_000003.11:g.47274873_47274876dup, NC_000003.11:g.47274871_47274876dup, NC_000003.11:g.47274863_47274876dup
19.
rs1491239572 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 3:47201061
(GRCh38)
3:47242551
(GRCh37)
- Canonical SPDI:
- NC_000003.12:47201060:TA:
- Gene:
- KIF9-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
20.
rs1491226530 has merged into rs1006154751 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGAGAGA
[Show Flanks]
- Chromosome:
- 3:47210491
(GRCh38)
3:47251981
(GRCh37)
- Canonical SPDI:
- NC_000003.12:47210485:AGAGAGA:AGAGA,NC_000003.12:47210485:AGAGAGA:AGAGAGAGAGAGA
- Gene:
- KIF9-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGA=0./0
(
ALFA)
-=0.000053/14
(TOPMED)
- HGVS: