Links from Gene
Items: 1 to 20 of 26047
1.
rs1491583216 has merged into rs36110858 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:196424715
(GRCh38)
3:196151586
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196424703:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:196424703:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:196424703:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:196424703:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:196424703:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:196424703:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:196424703:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:196424703:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196424703:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196424703:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196424703:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- UBXN7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
T=0.446286/2235
(1000Genomes)
- HGVS:
NC_000003.12:g.196424715_196424722del, NC_000003.12:g.196424718_196424722del, NC_000003.12:g.196424719_196424722del, NC_000003.12:g.196424720_196424722del, NC_000003.12:g.196424721_196424722del, NC_000003.12:g.196424722del, NC_000003.12:g.196424722dup, NC_000003.12:g.196424721_196424722dup, NC_000003.12:g.196424720_196424722dup, NC_000003.12:g.196424719_196424722dup, NC_000003.12:g.196424718_196424722dup, NC_000003.11:g.196151586_196151593del, NC_000003.11:g.196151589_196151593del, NC_000003.11:g.196151590_196151593del, NC_000003.11:g.196151591_196151593del, NC_000003.11:g.196151592_196151593del, NC_000003.11:g.196151593del, NC_000003.11:g.196151593dup, NC_000003.11:g.196151592_196151593dup, NC_000003.11:g.196151591_196151593dup, NC_000003.11:g.196151590_196151593dup, NC_000003.11:g.196151589_196151593dup
2.
rs1491570604 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 3:196444660
(GRCh38)
3:196171531
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196444658:GGG:G
- Validated:
- by frequency,by cluster
- MAF:
-=0.000008/1
(GnomAD)
-=0.000781/5
(1000Genomes)
- HGVS:
3.
rs1491554716 has merged into rs752311918 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:196448765
(GRCh38)
3:196175636
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196448756:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
TTTTTTTT=0.0085/5
(NorthernSweden)
-=0.175/7
(GENOME_DK)
- HGVS:
NC_000003.12:g.196448765_196448776del, NC_000003.12:g.196448766_196448776del, NC_000003.12:g.196448767_196448776del, NC_000003.12:g.196448768_196448776del, NC_000003.12:g.196448769_196448776del, NC_000003.12:g.196448770_196448776del, NC_000003.12:g.196448771_196448776del, NC_000003.12:g.196448772_196448776del, NC_000003.12:g.196448773_196448776del, NC_000003.12:g.196448774_196448776del, NC_000003.12:g.196448775_196448776del, NC_000003.12:g.196448776del, NC_000003.12:g.196448776dup, NC_000003.12:g.196448775_196448776dup, NC_000003.12:g.196448774_196448776dup, NC_000003.12:g.196448773_196448776dup, NC_000003.12:g.196448772_196448776dup, NC_000003.12:g.196448771_196448776dup, NC_000003.12:g.196448770_196448776dup, NC_000003.12:g.196448769_196448776dup, NC_000003.12:g.196448768_196448776dup, NC_000003.12:g.196448767_196448776dup, NC_000003.12:g.196448766_196448776dup, NC_000003.12:g.196448765_196448776dup, NC_000003.12:g.196448764_196448776dup, NC_000003.12:g.196448763_196448776dup, NC_000003.12:g.196448760_196448776dup, NC_000003.12:g.196448759_196448776dup, NC_000003.12:g.196448776_196448777insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.196448776_196448777insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.196175636_196175647del, NC_000003.11:g.196175637_196175647del, NC_000003.11:g.196175638_196175647del, NC_000003.11:g.196175639_196175647del, NC_000003.11:g.196175640_196175647del, NC_000003.11:g.196175641_196175647del, NC_000003.11:g.196175642_196175647del, NC_000003.11:g.196175643_196175647del, NC_000003.11:g.196175644_196175647del, NC_000003.11:g.196175645_196175647del, NC_000003.11:g.196175646_196175647del, NC_000003.11:g.196175647del, NC_000003.11:g.196175647dup, NC_000003.11:g.196175646_196175647dup, NC_000003.11:g.196175645_196175647dup, NC_000003.11:g.196175644_196175647dup, NC_000003.11:g.196175643_196175647dup, NC_000003.11:g.196175642_196175647dup, NC_000003.11:g.196175641_196175647dup, NC_000003.11:g.196175640_196175647dup, NC_000003.11:g.196175639_196175647dup, NC_000003.11:g.196175638_196175647dup, NC_000003.11:g.196175637_196175647dup, NC_000003.11:g.196175636_196175647dup, NC_000003.11:g.196175635_196175647dup, NC_000003.11:g.196175634_196175647dup, NC_000003.11:g.196175631_196175647dup, NC_000003.11:g.196175630_196175647dup, NC_000003.11:g.196175647_196175648insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.196175647_196175648insTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491547883 has merged into rs71630187 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACA>-,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 3:196401300
(GRCh38)
3:196128171
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196401298:ACACACACACACACACACACACA:A,NC_000003.12:196401298:ACACACACACACACACACACACA:ACACACACACA,NC_000003.12:196401298:ACACACACACACACACACACACA:ACACACACACACA,NC_000003.12:196401298:ACACACACACACACACACACACA:ACACACACACACACA,NC_000003.12:196401298:ACACACACACACACACACACACA:ACACACACACACACACA,NC_000003.12:196401298:ACACACACACACACACACACACA:ACACACACACACACACACA,NC_000003.12:196401298:ACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000003.12:196401298:ACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000003.12:196401298:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000003.12:196401298:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000003.12:196401298:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000003.12:196401298:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000003.12:196401298:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA
- Gene:
- UBXN7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.196401300_196401321del, NC_000003.12:g.196401300CA[5], NC_000003.12:g.196401300CA[6], NC_000003.12:g.196401300CA[7], NC_000003.12:g.196401300CA[8], NC_000003.12:g.196401300CA[9], NC_000003.12:g.196401300CA[10], NC_000003.12:g.196401300CA[12], NC_000003.12:g.196401300CA[13], NC_000003.12:g.196401300CA[14], NC_000003.12:g.196401300CA[15], NC_000003.12:g.196401300CA[16], NC_000003.12:g.196401300CA[17], NC_000003.11:g.196128171_196128192del, NC_000003.11:g.196128171CA[5], NC_000003.11:g.196128171CA[6], NC_000003.11:g.196128171CA[7], NC_000003.11:g.196128171CA[8], NC_000003.11:g.196128171CA[9], NC_000003.11:g.196128171CA[10], NC_000003.11:g.196128171CA[12], NC_000003.11:g.196128171CA[13], NC_000003.11:g.196128171CA[14], NC_000003.11:g.196128171CA[15], NC_000003.11:g.196128171CA[16], NC_000003.11:g.196128171CA[17]
6.
rs1491528538 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 3:196401814
(GRCh38)
3:196128686
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196401814::G
- Gene:
- UBXN7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000077/1
(TOMMO)
G=0.00029/36
(GnomAD)
- HGVS:
7.
rs1491521326 has merged into rs1180793375 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:196456328
(GRCh38)
3:196183199
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196456316:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.196456328_196456343del, NC_000003.12:g.196456329_196456343del, NC_000003.12:g.196456330_196456343del, NC_000003.12:g.196456331_196456343del, NC_000003.12:g.196456332_196456343del, NC_000003.12:g.196456333_196456343del, NC_000003.12:g.196456334_196456343del, NC_000003.12:g.196456335_196456343del, NC_000003.12:g.196456336_196456343del, NC_000003.12:g.196456337_196456343del, NC_000003.12:g.196456338_196456343del, NC_000003.12:g.196456339_196456343del, NC_000003.12:g.196456341_196456343del, NC_000003.12:g.196456342_196456343del, NC_000003.12:g.196456343del, NC_000003.12:g.196456343dup, NC_000003.12:g.196456342_196456343dup, NC_000003.12:g.196456341_196456343dup, NC_000003.12:g.196456340_196456343dup, NC_000003.12:g.196456339_196456343dup, NC_000003.12:g.196456338_196456343dup, NC_000003.12:g.196456337_196456343dup, NC_000003.11:g.196183199_196183214del, NC_000003.11:g.196183200_196183214del, NC_000003.11:g.196183201_196183214del, NC_000003.11:g.196183202_196183214del, NC_000003.11:g.196183203_196183214del, NC_000003.11:g.196183204_196183214del, NC_000003.11:g.196183205_196183214del, NC_000003.11:g.196183206_196183214del, NC_000003.11:g.196183207_196183214del, NC_000003.11:g.196183208_196183214del, NC_000003.11:g.196183209_196183214del, NC_000003.11:g.196183210_196183214del, NC_000003.11:g.196183212_196183214del, NC_000003.11:g.196183213_196183214del, NC_000003.11:g.196183214del, NC_000003.11:g.196183214dup, NC_000003.11:g.196183213_196183214dup, NC_000003.11:g.196183212_196183214dup, NC_000003.11:g.196183211_196183214dup, NC_000003.11:g.196183210_196183214dup, NC_000003.11:g.196183209_196183214dup, NC_000003.11:g.196183208_196183214dup
8.
rs1491512380 has merged into rs772342773 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:196445638
(GRCh38)
3:196172509
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196445628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:196445628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:196445628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:196445628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:196445628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:196445628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:196445628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:196445628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:196445628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:196445628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196445628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196445628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196445628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.196445638_196445647del, NC_000003.12:g.196445640_196445647del, NC_000003.12:g.196445641_196445647del, NC_000003.12:g.196445643_196445647del, NC_000003.12:g.196445644_196445647del, NC_000003.12:g.196445645_196445647del, NC_000003.12:g.196445646_196445647del, NC_000003.12:g.196445647del, NC_000003.12:g.196445647dup, NC_000003.12:g.196445646_196445647dup, NC_000003.12:g.196445645_196445647dup, NC_000003.12:g.196445644_196445647dup, NC_000003.12:g.196445643_196445647dup, NC_000003.11:g.196172509_196172518del, NC_000003.11:g.196172511_196172518del, NC_000003.11:g.196172512_196172518del, NC_000003.11:g.196172514_196172518del, NC_000003.11:g.196172515_196172518del, NC_000003.11:g.196172516_196172518del, NC_000003.11:g.196172517_196172518del, NC_000003.11:g.196172518del, NC_000003.11:g.196172518dup, NC_000003.11:g.196172517_196172518dup, NC_000003.11:g.196172516_196172518dup, NC_000003.11:g.196172515_196172518dup, NC_000003.11:g.196172514_196172518dup
9.
rs1491479623 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 3:196417724
(GRCh38)
3:196144595
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196417723:TA:
- Gene:
- UBXN7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00042/5
(
ALFA)
-=0.00299/36
(TOMMO)
-=0.00305/222
(GnomAD)
- HGVS:
10.
rs1491478026 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 3:196363251
(GRCh38)
3:196090122
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196363249:AAA:A
- Gene:
- UBXN7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00031/11
(GnomAD)
-=0.00157/18
(TOMMO)
- HGVS:
11.
rs1491477838 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 3:196450127
(GRCh38)
3:196176998
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196450126:GG:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00092/50
(GnomAD)
- HGVS:
12.
rs1491462334 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 3:196361954
(GRCh38)
3:196088825
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196361953:AC:
- Gene:
- UBXN7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000026/3
(ExAC)
- HGVS:
13.
rs1491413804 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 3:196409940
(GRCh38)
3:196136811
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196409939:CT:
- Gene:
- UBXN7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000031/4
(GnomAD)
- HGVS:
14.
rs1491399082 has merged into rs35790189 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGT>-,GT,GTGT,GTGTGTGT
[Show Flanks]
- Chromosome:
- 3:196450142
(GRCh38)
3:196177013
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196450127:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:196450127:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:196450127:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:196450127:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.055527/214
(ALSPAC)
GT=0.173333/104
(NorthernSweden)
GT=0.225509/59690
(TOPMED)
-=0.228155/47
(Vietnamese)
GT=0.3/12
(GENOME_DK)
GT=0.315495/1580
(1000Genomes)
- HGVS:
15.
rs1491372869 has merged into rs35587959 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:196438195
(GRCh38)
3:196165066
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196438182:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.196438195_196438207del, NC_000003.12:g.196438197_196438207del, NC_000003.12:g.196438198_196438207del, NC_000003.12:g.196438199_196438207del, NC_000003.12:g.196438200_196438207del, NC_000003.12:g.196438201_196438207del, NC_000003.12:g.196438202_196438207del, NC_000003.12:g.196438203_196438207del, NC_000003.12:g.196438204_196438207del, NC_000003.12:g.196438205_196438207del, NC_000003.12:g.196438206_196438207del, NC_000003.12:g.196438207del, NC_000003.12:g.196438207dup, NC_000003.12:g.196438206_196438207dup, NC_000003.12:g.196438205_196438207dup, NC_000003.12:g.196438204_196438207dup, NC_000003.12:g.196438203_196438207dup, NC_000003.12:g.196438202_196438207dup, NC_000003.12:g.196438201_196438207dup, NC_000003.12:g.196438200_196438207dup, NC_000003.12:g.196438199_196438207dup, NC_000003.12:g.196438207_196438208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.196438207_196438208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.196165066_196165078del, NC_000003.11:g.196165068_196165078del, NC_000003.11:g.196165069_196165078del, NC_000003.11:g.196165070_196165078del, NC_000003.11:g.196165071_196165078del, NC_000003.11:g.196165072_196165078del, NC_000003.11:g.196165073_196165078del, NC_000003.11:g.196165074_196165078del, NC_000003.11:g.196165075_196165078del, NC_000003.11:g.196165076_196165078del, NC_000003.11:g.196165077_196165078del, NC_000003.11:g.196165078del, NC_000003.11:g.196165078dup, NC_000003.11:g.196165077_196165078dup, NC_000003.11:g.196165076_196165078dup, NC_000003.11:g.196165075_196165078dup, NC_000003.11:g.196165074_196165078dup, NC_000003.11:g.196165073_196165078dup, NC_000003.11:g.196165072_196165078dup, NC_000003.11:g.196165071_196165078dup, NC_000003.11:g.196165070_196165078dup, NC_000003.11:g.196165078_196165079insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.196165078_196165079insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
16.
rs1491336639 has merged into rs749981900 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:196417738
(GRCh38)
3:196144609
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196417724:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- UBXN7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
AAAAAA=0.0362/16
(NorthernSweden)
- HGVS:
NC_000003.12:g.196417738_196417757del, NC_000003.12:g.196417739_196417757del, NC_000003.12:g.196417740_196417757del, NC_000003.12:g.196417741_196417757del, NC_000003.12:g.196417742_196417757del, NC_000003.12:g.196417743_196417757del, NC_000003.12:g.196417744_196417757del, NC_000003.12:g.196417745_196417757del, NC_000003.12:g.196417746_196417757del, NC_000003.12:g.196417747_196417757del, NC_000003.12:g.196417748_196417757del, NC_000003.12:g.196417749_196417757del, NC_000003.12:g.196417750_196417757del, NC_000003.12:g.196417751_196417757del, NC_000003.12:g.196417752_196417757del, NC_000003.12:g.196417753_196417757del, NC_000003.12:g.196417754_196417757del, NC_000003.12:g.196417755_196417757del, NC_000003.12:g.196417756_196417757del, NC_000003.12:g.196417757del, NC_000003.12:g.196417757dup, NC_000003.12:g.196417756_196417757dup, NC_000003.12:g.196417755_196417757dup, NC_000003.12:g.196417754_196417757dup, NC_000003.12:g.196417753_196417757dup, NC_000003.12:g.196417752_196417757dup, NC_000003.12:g.196417750_196417757dup, NC_000003.12:g.196417726_196417757dup, NC_000003.11:g.196144609_196144628del, NC_000003.11:g.196144610_196144628del, NC_000003.11:g.196144611_196144628del, NC_000003.11:g.196144612_196144628del, NC_000003.11:g.196144613_196144628del, NC_000003.11:g.196144614_196144628del, NC_000003.11:g.196144615_196144628del, NC_000003.11:g.196144616_196144628del, NC_000003.11:g.196144617_196144628del, NC_000003.11:g.196144618_196144628del, NC_000003.11:g.196144619_196144628del, NC_000003.11:g.196144620_196144628del, NC_000003.11:g.196144621_196144628del, NC_000003.11:g.196144622_196144628del, NC_000003.11:g.196144623_196144628del, NC_000003.11:g.196144624_196144628del, NC_000003.11:g.196144625_196144628del, NC_000003.11:g.196144626_196144628del, NC_000003.11:g.196144627_196144628del, NC_000003.11:g.196144628del, NC_000003.11:g.196144628dup, NC_000003.11:g.196144627_196144628dup, NC_000003.11:g.196144626_196144628dup, NC_000003.11:g.196144625_196144628dup, NC_000003.11:g.196144624_196144628dup, NC_000003.11:g.196144623_196144628dup, NC_000003.11:g.196144621_196144628dup, NC_000003.11:g.196144597_196144628dup
17.
rs1491307821 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 3:196363250
(GRCh38)
3:196090122
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196363250::C
- Gene:
- UBXN7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.00222/80
(GnomAD)
C=0.00581/67
(TOMMO)
C=0.00655/12
(Korea1K)
- HGVS:
18.
rs1491280090 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 3:196401768
(GRCh38)
3:196128639
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196401767:TA:
- Gene:
- UBXN7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00027/20
(GnomAD)
- HGVS:
19.
rs1491277258 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 3:196375183
(GRCh38)
3:196102054
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196375182:CC:
- Gene:
- UBXN7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
-=0.00016/1
(1000Genomes)
- HGVS: