Links from Gene
Items: 1 to 20 of 33509
1.
rs1491585824 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:34005434
(GRCh38)
9:34005432
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34005433:CA:
- Gene:
- UBAP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01416/168
(
ALFA)
-=0.00184/50
(TOMMO)
- HGVS:
2.
rs1491584261 has merged into rs11432780 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 9:34017027
(GRCh38)
9:34017025
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34017017:AAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:34017017:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:34017017:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:34017017:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:34017017:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:34017017:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:34017017:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- UBAP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
A=0.1301/35
(1000Genomes)
-=0.37/1426
(ALSPAC)
-=0.3754/1392
(TWINSUK)
-=0.4/16
(GENOME_DK)
-=0.4065/239
(NorthernSweden)
- HGVS:
NC_000009.12:g.34017027_34017030del, NC_000009.12:g.34017028_34017030del, NC_000009.12:g.34017029_34017030del, NC_000009.12:g.34017030del, NC_000009.12:g.34017030dup, NC_000009.12:g.34017029_34017030dup, NC_000009.12:g.34017028_34017030dup, NC_000009.11:g.34017025_34017028del, NC_000009.11:g.34017026_34017028del, NC_000009.11:g.34017027_34017028del, NC_000009.11:g.34017028del, NC_000009.11:g.34017028dup, NC_000009.11:g.34017027_34017028dup, NC_000009.11:g.34017026_34017028dup
3.
rs1491583145 has merged into rs35197118 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG
[Show Flanks]
- Chromosome:
- 9:33992666
(GRCh38)
9:33992664
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33992658:GGGGGGGGGG:GGGGGGG,NC_000009.12:33992658:GGGGGGGGGG:GGGGGGGG,NC_000009.12:33992658:GGGGGGGGGG:GGGGGGGGG,NC_000009.12:33992658:GGGGGGGGGG:GGGGGGGGGGG,NC_000009.12:33992658:GGGGGGGGGG:GGGGGGGGGGGG,NC_000009.12:33992658:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000009.12:33992658:GGGGGGGGGG:GGGGGGGGGGGGGG
- Gene:
- UBAP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGG=0./0
(
ALFA)
GGGG=0.000004/1
(TOPMED)
-=0.004918/9
(Korea1K)
-=0.125/5
(GENOME_DK)
-=0.17663/65
(NorthernSweden)
- HGVS:
NC_000009.12:g.33992666_33992668del, NC_000009.12:g.33992667_33992668del, NC_000009.12:g.33992668del, NC_000009.12:g.33992668dup, NC_000009.12:g.33992667_33992668dup, NC_000009.12:g.33992666_33992668dup, NC_000009.12:g.33992665_33992668dup, NC_000009.11:g.33992664_33992666del, NC_000009.11:g.33992665_33992666del, NC_000009.11:g.33992666del, NC_000009.11:g.33992666dup, NC_000009.11:g.33992665_33992666dup, NC_000009.11:g.33992664_33992666dup, NC_000009.11:g.33992663_33992666dup
5.
rs1491572292 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,T
[Show Flanks]
- Chromosome:
- 9:33935174
(GRCh38)
9:33935173
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33935174::C,NC_000009.12:33935174::T
- Gene:
- UBAP2 (Varview), SNORD121B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000035/1
(TOMMO)
T=0.008389/5
(NorthernSweden)
- HGVS:
6.
rs1491561147 has merged into rs1217356369 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATTCTGGATATATATATATATATATAT,ATATATATTCTGGATATATATATATATAT,ATATATATTCTGGATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 9:33981237
(GRCh38)
9:33981235
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33981226:ATATATATATATAT:ATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATATATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATATATATATATTCTGGATATATATATATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATATATATATTCTGGATATATATATATATAT,NC_000009.12:33981226:ATATATATATATAT:ATATATATATATATATATTCTGGATATATATATATATATAT
- Gene:
- UBAP2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATAT=0./0
(
ALFA)
ATATAT=0.00068/1
(Korea1K)
- HGVS:
NC_000009.12:g.33981227AT[5], NC_000009.12:g.33981227AT[6], NC_000009.12:g.33981227AT[8], NC_000009.12:g.33981227AT[9], NC_000009.12:g.33981227AT[10], NC_000009.12:g.33981227AT[11], NC_000009.12:g.33981227_33981240AT[10]TCTGGATATATATATATATATATAT[1], NC_000009.12:g.33981227_33981240AT[9]TCTGGATATATATATATATAT[1], NC_000009.12:g.33981227_33981240AT[9]TCTGGATATATATATATATATAT[1], NC_000009.11:g.33981225AT[5], NC_000009.11:g.33981225AT[6], NC_000009.11:g.33981225AT[8], NC_000009.11:g.33981225AT[9], NC_000009.11:g.33981225AT[10], NC_000009.11:g.33981225AT[11], NC_000009.11:g.33981225_33981238AT[10]TCTGGATATATATATATATATATAT[1], NC_000009.11:g.33981225_33981238AT[9]TCTGGATATATATATATATAT[1], NC_000009.11:g.33981225_33981238AT[9]TCTGGATATATATATATATATAT[1]
7.
rs1491554249 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 9:34037008
(GRCh38)
9:34037006
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34037007:TG:
- Gene:
- UBAP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.001096/13
(
ALFA)
-=0.000045/5
(GnomAD)
- HGVS:
8.
rs1491544759 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 9:34018229
(GRCh38)
9:34018227
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34018228:AT:
- Gene:
- UBAP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00002/1
(GnomAD)
- HGVS:
10.
rs1491512906 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 9:33922038
(GRCh38)
9:33922036
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33922035:AGAG:AG
- Gene:
- UBAP2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0.000108/2
(
ALFA)
-=0./0
(TWINSUK)
-=0.000036/5
(GnomAD)
-=0.00006/16
(TOPMED)
-=0.000223/1
(Estonian)
-=0.000259/1
(ALSPAC)
-=0.000546/1
(Korea1K)
- HGVS:
NC_000009.12:g.33922036AG[1], NC_000009.11:g.33922034AG[1], NM_018449.4:c.*465CT[1], NM_018449.3:c.*465CT[1], NM_018449.2:c.*465CT[1], NM_001370066.2:c.*465CT[1], NM_001370066.1:c.*465CT[1], NM_020867.2:c.*465CT[1], NM_020867.1:c.*465CT[1], NM_001370062.2:c.*465CT[1], NM_001370062.1:c.*465CT[1], NM_001370059.2:c.*465CT[1], NM_001370059.1:c.*465CT[1], NM_001370064.2:c.*465CT[1], NM_001370064.1:c.*465CT[1], NM_001370068.2:c.*465CT[1], NM_001370068.1:c.*465CT[1], NM_001370067.2:c.*465CT[1], NM_001370067.1:c.*465CT[1], NR_163243.2:n.3562CT[1], NR_163243.1:n.3562CT[1], NM_001282530.2:c.*465CT[1], NM_001282530.1:c.*465CT[1], NM_148171.1:c.*2953CT[1], NM_001282529.1:c.*465CT[1]
12.
rs1491502262 has merged into rs755860888 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT,ATATATATATAT
[Show Flanks]
- Chromosome:
- 9:33981174
(GRCh38)
9:33981172
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33981163:ATATATATATATATAT:ATATATATAT,NC_000009.12:33981163:ATATATATATATATAT:ATATATATATAT,NC_000009.12:33981163:ATATATATATATATAT:ATATATATATATAT,NC_000009.12:33981163:ATATATATATATATAT:ATATATATATATATATAT,NC_000009.12:33981163:ATATATATATATATAT:ATATATATATATATATATAT,NC_000009.12:33981163:ATATATATATATATAT:ATATATATATATATATATATAT
- Gene:
- UBAP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.33981164AT[5], NC_000009.12:g.33981164AT[6], NC_000009.12:g.33981164AT[7], NC_000009.12:g.33981164AT[9], NC_000009.12:g.33981164AT[10], NC_000009.12:g.33981164AT[11], NC_000009.11:g.33981162AT[5], NC_000009.11:g.33981162AT[6], NC_000009.11:g.33981162AT[7], NC_000009.11:g.33981162AT[9], NC_000009.11:g.33981162AT[10], NC_000009.11:g.33981162AT[11]
15.
rs1491473406 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:34008961
(GRCh38)
9:34008959
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34008960:CA:
- Gene:
- UBAP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.03136/372
(
ALFA)
-=0.00903/142
(TOMMO)
- HGVS:
16.
rs1491465921 has merged into rs34270173 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:34041309
(GRCh38)
9:34041307
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34041298:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:34041298:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:34041298:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:34041298:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:34041298:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:34041298:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:34041298:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- UBAP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAAA=0.0004/2
(
ALFA)
-=0.0794/306
(ALSPAC)
A=0.0885/443
(1000Genomes)
- HGVS:
NC_000009.12:g.34041309_34041315del, NC_000009.12:g.34041312_34041315del, NC_000009.12:g.34041313_34041315del, NC_000009.12:g.34041314_34041315del, NC_000009.12:g.34041315del, NC_000009.12:g.34041315dup, NC_000009.12:g.34041314_34041315dup, NC_000009.11:g.34041307_34041313del, NC_000009.11:g.34041310_34041313del, NC_000009.11:g.34041311_34041313del, NC_000009.11:g.34041312_34041313del, NC_000009.11:g.34041313del, NC_000009.11:g.34041313dup, NC_000009.11:g.34041312_34041313dup
17.
rs1491440668 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 9:33994714
(GRCh38)
9:33994712
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33994711:GTGT:GT
- Gene:
- UBAP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGT=0.000142/2
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000072/19
(TOPMED)
GT=0.428571/3
(1000Genomes)
- HGVS:
19.
rs1491404489 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 9:34008961
(GRCh38)
9:34008960
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34008961::CA
- Gene:
- UBAP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CA=0./0
(
ALFA)
CA=0.00005/3
(GnomAD)
- HGVS:
20.
rs1491401105 has merged into rs74180528 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:34044101
(GRCh38)
9:34044099
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:34044090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- UBAP2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.34044101_34044113del, NC_000009.12:g.34044102_34044113del, NC_000009.12:g.34044103_34044113del, NC_000009.12:g.34044104_34044113del, NC_000009.12:g.34044105_34044113del, NC_000009.12:g.34044106_34044113del, NC_000009.12:g.34044107_34044113del, NC_000009.12:g.34044108_34044113del, NC_000009.12:g.34044109_34044113del, NC_000009.12:g.34044110_34044113del, NC_000009.12:g.34044111_34044113del, NC_000009.12:g.34044112_34044113del, NC_000009.12:g.34044113del, NC_000009.12:g.34044113dup, NC_000009.12:g.34044112_34044113dup, NC_000009.12:g.34044111_34044113dup, NC_000009.12:g.34044109_34044113dup, NC_000009.11:g.34044099_34044111del, NC_000009.11:g.34044100_34044111del, NC_000009.11:g.34044101_34044111del, NC_000009.11:g.34044102_34044111del, NC_000009.11:g.34044103_34044111del, NC_000009.11:g.34044104_34044111del, NC_000009.11:g.34044105_34044111del, NC_000009.11:g.34044106_34044111del, NC_000009.11:g.34044107_34044111del, NC_000009.11:g.34044108_34044111del, NC_000009.11:g.34044109_34044111del, NC_000009.11:g.34044110_34044111del, NC_000009.11:g.34044111del, NC_000009.11:g.34044111dup, NC_000009.11:g.34044110_34044111dup, NC_000009.11:g.34044109_34044111dup, NC_000009.11:g.34044107_34044111dup