Links from Gene
Items: 1 to 20 of 1000
1.
rs1491030568 has merged into rs71181796 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:55594705
(GRCh38)
19:56106071
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:55594696:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FIZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
- HGVS:
NC_000019.10:g.55594705_55594718del, NC_000019.10:g.55594707_55594718del, NC_000019.10:g.55594708_55594718del, NC_000019.10:g.55594709_55594718del, NC_000019.10:g.55594710_55594718del, NC_000019.10:g.55594712_55594718del, NC_000019.10:g.55594713_55594718del, NC_000019.10:g.55594714_55594718del, NC_000019.10:g.55594715_55594718del, NC_000019.10:g.55594716_55594718del, NC_000019.10:g.55594717_55594718del, NC_000019.10:g.55594718del, NC_000019.10:g.55594718dup, NC_000019.10:g.55594717_55594718dup, NC_000019.10:g.55594716_55594718dup, NC_000019.10:g.55594715_55594718dup, NC_000019.10:g.55594714_55594718dup, NC_000019.10:g.55594713_55594718dup, NC_000019.10:g.55594711_55594718dup, NC_000019.9:g.56106071_56106084del, NC_000019.9:g.56106073_56106084del, NC_000019.9:g.56106074_56106084del, NC_000019.9:g.56106075_56106084del, NC_000019.9:g.56106076_56106084del, NC_000019.9:g.56106078_56106084del, NC_000019.9:g.56106079_56106084del, NC_000019.9:g.56106080_56106084del, NC_000019.9:g.56106081_56106084del, NC_000019.9:g.56106082_56106084del, NC_000019.9:g.56106083_56106084del, NC_000019.9:g.56106084del, NC_000019.9:g.56106084dup, NC_000019.9:g.56106083_56106084dup, NC_000019.9:g.56106082_56106084dup, NC_000019.9:g.56106081_56106084dup, NC_000019.9:g.56106080_56106084dup, NC_000019.9:g.56106079_56106084dup, NC_000019.9:g.56106077_56106084dup, NG_052830.1:g.12261_12274del, NG_052830.1:g.12263_12274del, NG_052830.1:g.12264_12274del, NG_052830.1:g.12265_12274del, NG_052830.1:g.12266_12274del, NG_052830.1:g.12268_12274del, NG_052830.1:g.12269_12274del, NG_052830.1:g.12270_12274del, NG_052830.1:g.12271_12274del, NG_052830.1:g.12272_12274del, NG_052830.1:g.12273_12274del, NG_052830.1:g.12274del, NG_052830.1:g.12274dup, NG_052830.1:g.12273_12274dup, NG_052830.1:g.12272_12274dup, NG_052830.1:g.12271_12274dup, NG_052830.1:g.12270_12274dup, NG_052830.1:g.12269_12274dup, NG_052830.1:g.12267_12274dup
2.
rs1490843164 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:55599235
(GRCh38)
19:56110601
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55599234:A:T
- Gene:
- FIZ1 (Varview), ZNF524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,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:
3.
rs1490797856 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:55592131
(GRCh38)
19:56103497
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55592130:T:C
- Gene:
- FIZ1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
NC_000019.10:g.55592131T>C, NC_000019.9:g.56103497T>C, NG_052830.1:g.14840A>G, NM_032836.3:c.*319A>G, NM_032836.2:c.*319A>G, XM_005259352.5:c.*319A>G, XM_005259352.4:c.*319A>G, XM_005259352.3:c.*319A>G, XM_005259352.2:c.*319A>G, XM_005259352.1:c.*319A>G, XM_011527426.3:c.*319A>G, XM_011527426.2:c.*319A>G, XM_011527426.1:c.*319A>G, XM_047439564.1:c.*319A>G
4.
rs1490528203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:55590872
(GRCh38)
19:56102238
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55590871:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
5.
rs1490468497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:55591695
(GRCh38)
19:56103061
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55591694:A:T
- Gene:
- FIZ1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000019.10:g.55591695A>T, NC_000019.9:g.56103061A>T, NG_052830.1:g.15276T>A, NM_032836.3:c.*755T>A, NM_032836.2:c.*755T>A, XM_005259352.5:c.*755T>A, XM_005259352.4:c.*755T>A, XM_005259352.3:c.*755T>A, XM_005259352.2:c.*755T>A, XM_005259352.1:c.*755T>A, XM_011527426.3:c.*755T>A, XM_011527426.2:c.*755T>A, XM_011527426.1:c.*755T>A, XM_047439564.1:c.*755T>A
6.
rs1490304730 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:55591296
(GRCh38)
19:56102662
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55591295:G:A
- Gene:
- FIZ1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490053760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:55598976
(GRCh38)
19:56110342
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55598975:T:A
- Gene:
- FIZ1 (Varview), ZNF524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1489790172 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:55592784
(GRCh38)
19:56104150
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55592783:C:G
- Gene:
- FIZ1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
NC_000019.10:g.55592784C>G, NC_000019.9:g.56104150C>G, NG_052830.1:g.14187G>C, NM_032836.3:c.1157G>C, NM_032836.2:c.1157G>C, XM_005259352.5:c.1157G>C, XM_005259352.4:c.1157G>C, XM_005259352.3:c.1157G>C, XM_005259352.2:c.1157G>C, XM_005259352.1:c.1157G>C, XM_011527426.3:c.1139G>C, XM_011527426.2:c.1184G>C, XM_011527426.1:c.1184G>C, XM_047439564.1:c.1157G>C, NP_116225.2:p.Gly386Ala, XP_005259409.1:p.Gly386Ala, XP_011525728.2:p.Gly380Ala, XP_047295520.1:p.Gly386Ala
9.
rs1489678047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:55596281
(GRCh38)
19:56107647
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55596280:C:G,NC_000019.10:55596280:C:T
- Gene:
- FIZ1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
10.
rs1489474433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:55594116
(GRCh38)
19:56105482
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55594115:C:T
- Gene:
- FIZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000038/10
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
11.
rs1489422795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:55599833
(GRCh38)
19:56111199
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55599832:C:T
- Gene:
- FIZ1 (Varview), ZNF524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000283/5
(TOMMO)
- HGVS:
12.
rs1489242996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:55601394
(GRCh38)
19:56112760
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55601393:G:A
- Gene:
- FIZ1 (Varview), ZNF524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_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:
13.
rs1489173021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:55592588
(GRCh38)
19:56103954
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55592587:G:A
- Gene:
- FIZ1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000008/2
(TOPMED)
- HGVS:
NC_000019.10:g.55592588G>A, NC_000019.9:g.56103954G>A, NG_052830.1:g.14383C>T, NM_032836.3:c.1353C>T, NM_032836.2:c.1353C>T, XM_005259352.5:c.1353C>T, XM_005259352.4:c.1353C>T, XM_005259352.3:c.1353C>T, XM_005259352.2:c.1353C>T, XM_005259352.1:c.1353C>T, XM_011527426.3:c.1335C>T, XM_011527426.2:c.1380C>T, XM_011527426.1:c.1380C>T, XM_047439564.1:c.1353C>T
14.
rs1488959194 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:55600040
(GRCh38)
19:56111406
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55600039:G:A
- Gene:
- FIZ1 (Varview), ZNF524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1488628798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:55599760
(GRCh38)
19:56111126
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55599759:G:A
- Gene:
- FIZ1 (Varview), ZNF524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000156/1
(1000Genomes)
A=0.002735/5
(Korea1K)
A=0.002796/47
(TOMMO)
A=0.00308/9
(KOREAN)
- HGVS:
16.
rs1488073240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:55590958
(GRCh38)
19:56102324
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55590957:G:A
- Gene:
- FIZ1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.00046/8
(TOMMO)
A=0.000546/1
(Korea1K)
- HGVS:
17.
rs1487614551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:55591190
(GRCh38)
19:56102556
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55591189:C:A
- Gene:
- FIZ1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1487604657 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 19:55600440
(GRCh38)
19:56111806
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55600439:G:C,NC_000019.10:55600439:G:T
- Gene:
- FIZ1 (Varview), ZNF524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000136/36
(TOPMED)
- HGVS:
19.
rs1487582949 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:55595101
(GRCh38)
19:56106467
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55595100:G:C
- Gene:
- FIZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
20.
rs1487378526 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:55601075
(GRCh38)
19:56112441
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55601074:C:G
- Gene:
- FIZ1 (Varview), ZNF524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000156/1
(1000Genomes)
- HGVS: