Links from Gene
Items: 1 to 20 of 1000
1.
rs1491255671 has merged into rs11290106 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:196433380
(GRCh38)
3:196160251
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.3299/1652
(1000Genomes)
- HGVS:
NC_000003.12:g.196433380_196433391del, NC_000003.12:g.196433384_196433391del, NC_000003.12:g.196433385_196433391del, NC_000003.12:g.196433387_196433391del, NC_000003.12:g.196433388_196433391del, NC_000003.12:g.196433389_196433391del, NC_000003.12:g.196433390_196433391del, NC_000003.12:g.196433391del, NC_000003.12:g.196433391dup, NC_000003.12:g.196433390_196433391dup, NC_000003.12:g.196433389_196433391dup, NC_000003.12:g.196433388_196433391dup, NC_000003.12:g.196433387_196433391dup, NC_000003.12:g.196433385_196433391dup, NC_000003.12:g.196433384_196433391dup, NC_000003.11:g.196160251_196160262del, NC_000003.11:g.196160255_196160262del, NC_000003.11:g.196160256_196160262del, NC_000003.11:g.196160258_196160262del, NC_000003.11:g.196160259_196160262del, NC_000003.11:g.196160260_196160262del, NC_000003.11:g.196160261_196160262del, NC_000003.11:g.196160262del, NC_000003.11:g.196160262dup, NC_000003.11:g.196160261_196160262dup, NC_000003.11:g.196160260_196160262dup, NC_000003.11:g.196160259_196160262dup, NC_000003.11:g.196160258_196160262dup, NC_000003.11:g.196160256_196160262dup, NC_000003.11:g.196160255_196160262dup
2.
rs1491101852 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:196433371
(GRCh38)
3:196160242
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196433370:CA:
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00003/1
(GnomAD)
- HGVS:
3.
rs1491031462 has merged into rs11290106 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:196433380
(GRCh38)
3:196160251
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:196433371:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.3299/1652
(1000Genomes)
- HGVS:
NC_000003.12:g.196433380_196433391del, NC_000003.12:g.196433384_196433391del, NC_000003.12:g.196433385_196433391del, NC_000003.12:g.196433387_196433391del, NC_000003.12:g.196433388_196433391del, NC_000003.12:g.196433389_196433391del, NC_000003.12:g.196433390_196433391del, NC_000003.12:g.196433391del, NC_000003.12:g.196433391dup, NC_000003.12:g.196433390_196433391dup, NC_000003.12:g.196433389_196433391dup, NC_000003.12:g.196433388_196433391dup, NC_000003.12:g.196433387_196433391dup, NC_000003.12:g.196433385_196433391dup, NC_000003.12:g.196433384_196433391dup, NC_000003.11:g.196160251_196160262del, NC_000003.11:g.196160255_196160262del, NC_000003.11:g.196160256_196160262del, NC_000003.11:g.196160258_196160262del, NC_000003.11:g.196160259_196160262del, NC_000003.11:g.196160260_196160262del, NC_000003.11:g.196160261_196160262del, NC_000003.11:g.196160262del, NC_000003.11:g.196160262dup, NC_000003.11:g.196160261_196160262dup, NC_000003.11:g.196160260_196160262dup, NC_000003.11:g.196160259_196160262dup, NC_000003.11:g.196160258_196160262dup, NC_000003.11:g.196160256_196160262dup, NC_000003.11:g.196160255_196160262dup
4.
rs1490934708 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:196430245
(GRCh38)
3:196157116
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196430244:C:T
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490919037 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:196431051
(GRCh38)
3:196157922
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196431050:G:T
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490453758 has merged into rs1449239611 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 3:196429680
(GRCh38)
3:196156551
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196429679:AAAAAAA:AAAAAA,NC_000003.12:196429679:AAAAAAA:AAAAAAAA
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
7.
rs1490205925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:196433042
(GRCh38)
3:196159913
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196433041:G:A
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000094/1
(
ALFA)
A=0.000029/4
(GnomAD)
- HGVS:
8.
rs1489793129 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:196429457
(GRCh38)
3:196156328
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196429456:A:G
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488790542 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:196433023
(GRCh38)
3:196159894
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196433022:G:T
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1488546483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 3:196431796
(GRCh38)
3:196158667
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196431795:G:C,NC_000003.12:196431795:G:T
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
C=0.000009/1
(GnomAD_exomes)
- HGVS:
11.
rs1488140304 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCT>-
[Show Flanks]
- Chromosome:
- 3:196431247
(GRCh38)
3:196158118
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196431243:CCTCCT:CCT
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCTCCT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
12.
rs1485705584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:196429528
(GRCh38)
3:196156399
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196429527:T:G
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1485395914 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:196433277
(GRCh38)
3:196160148
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196433276:A:C
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00006/1
(TOMMO)
- HGVS:
14.
rs1484782732 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 3:196432682
(GRCh38)
3:196159553
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196432681:TT:T
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
16.
rs1482450572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:196430535
(GRCh38)
3:196157406
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196430534:G:A
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1482223141 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:196433206
(GRCh38)
3:196160077
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196433205:C:A
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
18.
rs1482127272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:196432495
(GRCh38)
3:196159366
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196432494:C:G
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1482124920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:196431453
(GRCh38)
3:196158324
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196431452:T:G
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
20.
rs1481713596 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 3:196432138
(GRCh38)
3:196159010
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196432138:C:CC
- Gene:
- UBXN7 (Varview), UBXN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000043/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000016/2
(GnomAD_exomes)
- HGVS: