Links from Gene
Items: 1 to 20 of 8387
2.
rs1491284527 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:116657287
(GRCh38)
6:116978450
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116657285:TAT:T
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491247434 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CN,G
[Show Flanks]
- Chromosome:
- 6:116657025
(GRCh38)
6:116978189
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116657025::C,NC_000006.12:116657025::CN,NC_000006.12:116657025::G
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.000463/54
(GnomAD)
CN=0.008303/32
(ALSPAC)
CN=0.009709/36
(TWINSUK)
- HGVS:
4.
rs1491217474 has merged into rs11361991 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:116670377
(GRCh38)
6:116991540
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116670370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.1853/714
(ALSPAC)
- HGVS:
NC_000006.12:g.116670377_116670389del, NC_000006.12:g.116670379_116670389del, NC_000006.12:g.116670381_116670389del, NC_000006.12:g.116670382_116670389del, NC_000006.12:g.116670383_116670389del, NC_000006.12:g.116670385_116670389del, NC_000006.12:g.116670386_116670389del, NC_000006.12:g.116670387_116670389del, NC_000006.12:g.116670388_116670389del, NC_000006.12:g.116670389del, NC_000006.12:g.116670389dup, NC_000006.12:g.116670388_116670389dup, NC_000006.12:g.116670387_116670389dup, NC_000006.12:g.116670386_116670389dup, NC_000006.12:g.116670385_116670389dup, NC_000006.12:g.116670384_116670389dup, NC_000006.12:g.116670383_116670389dup, NC_000006.12:g.116670382_116670389dup, NC_000006.12:g.116670381_116670389dup, NC_000006.12:g.116670380_116670389dup, NC_000006.12:g.116670378_116670389dup, NC_000006.12:g.116670374_116670389dup, NC_000006.12:g.116670373_116670389dup, NC_000006.12:g.116670371_116670389dup, NC_000006.11:g.116991540_116991552del, NC_000006.11:g.116991542_116991552del, NC_000006.11:g.116991544_116991552del, NC_000006.11:g.116991545_116991552del, NC_000006.11:g.116991546_116991552del, NC_000006.11:g.116991548_116991552del, NC_000006.11:g.116991549_116991552del, NC_000006.11:g.116991550_116991552del, NC_000006.11:g.116991551_116991552del, NC_000006.11:g.116991552del, NC_000006.11:g.116991552dup, NC_000006.11:g.116991551_116991552dup, NC_000006.11:g.116991550_116991552dup, NC_000006.11:g.116991549_116991552dup, NC_000006.11:g.116991548_116991552dup, NC_000006.11:g.116991547_116991552dup, NC_000006.11:g.116991546_116991552dup, NC_000006.11:g.116991545_116991552dup, NC_000006.11:g.116991544_116991552dup, NC_000006.11:g.116991543_116991552dup, NC_000006.11:g.116991541_116991552dup, NC_000006.11:g.116991537_116991552dup, NC_000006.11:g.116991536_116991552dup, NC_000006.11:g.116991534_116991552dup
6.
rs1491167573 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 6:116670625
(GRCh38)
6:116991788
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116670624:AG:
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
7.
rs1491135335 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 6:116664906
(GRCh38)
6:116986069
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116664905:AA:
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000245/4
(
ALFA)
-=0.000154/21
(GnomAD)
- HGVS:
8.
rs1491088383 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:116656578
(GRCh38)
6:116977741
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116656575:ATAT:AT
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000015/2
(GnomAD)
-=0.000035/1
(TOMMO)
-=0.000156/1
(1000Genomes)
- HGVS:
9.
rs1491082491 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:116660665
(GRCh38)
6:116981828
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116660663:TCT:T
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
-=0.000025/3
(GnomAD)
- HGVS:
10.
rs1491077349 has merged into rs370152468 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA
[Show Flanks]
- Chromosome:
- 6:116650927
(GRCh38)
6:116972090
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116650913:ACACACACACACACACACACA:ACACACACACACA,NC_000006.12:116650913:ACACACACACACACACACACA:ACACACACACACACA,NC_000006.12:116650913:ACACACACACACACACACACA:ACACACACACACACACA,NC_000006.12:116650913:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000006.12:116650913:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000006.12:116650913:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000006.12:116650913:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000006.12:116650913:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACA=0./0
(
ALFA)
AC=0.01852/4
(Vietnamese)
AC=0.025/1
(GENOME_DK)
AC=0.10144/508
(1000Genomes)
- HGVS:
NC_000006.12:g.116650915CA[6], NC_000006.12:g.116650915CA[7], NC_000006.12:g.116650915CA[8], NC_000006.12:g.116650915CA[9], NC_000006.12:g.116650915CA[11], NC_000006.12:g.116650915CA[12], NC_000006.12:g.116650915CA[13], NC_000006.12:g.116650915CA[14], NC_000006.11:g.116972078CA[6], NC_000006.11:g.116972078CA[7], NC_000006.11:g.116972078CA[8], NC_000006.11:g.116972078CA[9], NC_000006.11:g.116972078CA[11], NC_000006.11:g.116972078CA[12], NC_000006.11:g.116972078CA[13], NC_000006.11:g.116972078CA[14]
11.
rs1491073567 has merged into rs11398572 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:116638074
(GRCh38)
6:116959237
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116638066:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.116638074_116638085del, NC_000006.12:g.116638076_116638085del, NC_000006.12:g.116638080_116638085del, NC_000006.12:g.116638081_116638085del, NC_000006.12:g.116638083_116638085del, NC_000006.12:g.116638084_116638085del, NC_000006.12:g.116638085del, NC_000006.12:g.116638085dup, NC_000006.12:g.116638084_116638085dup, NC_000006.12:g.116638083_116638085dup, NC_000006.12:g.116638082_116638085dup, NC_000006.12:g.116638081_116638085dup, NC_000006.12:g.116638080_116638085dup, NC_000006.11:g.116959237_116959248del, NC_000006.11:g.116959239_116959248del, NC_000006.11:g.116959243_116959248del, NC_000006.11:g.116959244_116959248del, NC_000006.11:g.116959246_116959248del, NC_000006.11:g.116959247_116959248del, NC_000006.11:g.116959248del, NC_000006.11:g.116959248dup, NC_000006.11:g.116959247_116959248dup, NC_000006.11:g.116959246_116959248dup, NC_000006.11:g.116959245_116959248dup, NC_000006.11:g.116959244_116959248dup, NC_000006.11:g.116959243_116959248dup
12.
rs1490992917 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 6:116666674
(GRCh38)
6:116987838
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116666674:A:AA
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
NC_000006.12:g.116666675dup, NC_000006.11:g.116987838dup, NM_145062.3:c.518dup, NM_145062.2:c.518dup, NM_001361189.2:c.518dup, NM_001361189.1:c.518dup, NR_154589.2:n.734dup, NR_154589.1:n.778dup, NR_154588.2:n.734dup, NR_154588.1:n.778dup, NR_154586.2:n.734dup, NR_154586.1:n.778dup, NR_154587.2:n.734dup, NR_154587.1:n.778dup, NM_001361190.2:c.14dup, NM_001361190.1:c.14dup, NP_659499.2:p.Lys174fs, NP_001348118.1:p.Lys174fs, NP_001348119.1:p.Lys6fs
13.
rs1490851777 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 6:116642519
(GRCh38)
6:116963682
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116642518:A:C,NC_000006.12:116642518:A:T
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490735742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:116660136
(GRCh38)
6:116981299
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116660135:G:A
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
15.
rs1490610746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:116659571
(GRCh38)
6:116980734
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116659570:C:T
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
16.
rs1490571548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:116661278
(GRCh38)
6:116982441
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116661277:T:C
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490455000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:116638168
(GRCh38)
6:116959331
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116638167:T:C
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490450329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 6:116637060
(GRCh38)
6:116958223
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116637059:A:T
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
19.
rs1489964115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:116657248
(GRCh38)
6:116978411
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116657247:T:C
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
20.
rs1489853055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:116656890
(GRCh38)
6:116978053
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116656889:C:T
- Gene:
- ZUP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: