Links from Gene
Items: 1 to 20 of 2473
1.
rs1490937889 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44113100
(GRCh38)
19:44617253
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44113099:C:T
- Gene:
- ZNF225 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490811458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:44105495
(GRCh38)
19:44609648
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44105494:G:A
- Gene:
- ZNF224 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000022/3
(GnomAD)
- HGVS:
3.
rs1490446658 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:44112534
(GRCh38)
19:44616687
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44112533:A:C
- Gene:
- ZNF225 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
4.
rs1489687627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:44111982
(GRCh38)
19:44616135
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44111981:A:G
- Gene:
- ZNF225 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
5.
rs1488920597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:44107802
(GRCh38)
19:44611955
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44107801:A:C
- Gene:
- ZNF224 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
NC_000019.10:g.44107802A>C, NC_000019.9:g.44611955A>C, NG_051221.1:g.18474A>C, NM_013398.5:c.1642A>C, NM_013398.4:c.1642A>C, NM_013398.3:c.1642A>C, NM_013398.2:c.1642A>C, NM_001321645.3:c.1642A>C, NM_001321645.2:c.1642A>C, NM_001321645.1:c.1642A>C, NR_033341.1:n.898T>G, NM_005774.1:c.1390A>C, NP_037530.2:p.Ser548Arg, NP_001308574.1:p.Ser548Arg
6.
rs1488520041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:44110622
(GRCh38)
19:44614775
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44110621:T:G
- Gene:
- ZNF225 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.02074/246
(
ALFA)
G=0.013/38
(KOREAN)
T=0.4375/14
(SGDP_PRJ)
- HGVS:
7.
rs1488193953 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:44110269
(GRCh38)
19:44614422
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44110268:T:C
- Gene:
- ZNF224 (Varview), ZNF225 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1488160648 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 19:44111071
(GRCh38)
19:44615224
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44111067:TGTGT:TGT
- Gene:
- ZNF225 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
9.
rs1487857469 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44113983
(GRCh38)
19:44618136
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44113982:C:T
- Gene:
- ZNF225 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_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)
- HGVS:
10.
rs1487842639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:44110932
(GRCh38)
19:44615085
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44110931:G:A
- Gene:
- ZNF225 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1487181570 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44110739
(GRCh38)
19:44614892
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44110738:C:T
- Gene:
- ZNF225 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
12.
rs1486809358 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 19:44109774
(GRCh38)
19:44613927
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44109771:TGTG:TG
- Gene:
- ZNF224 (Varview), ZNF225 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTG=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
13.
rs1486604056 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 19:44109205
(GRCh38)
19:44613358
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44109204:TA:
- Gene:
- ZNF224 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
14.
rs1486488037 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44105043
(GRCh38)
19:44609196
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44105042:C:T
- Gene:
- ZNF224 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
- HGVS:
15.
rs1486447978 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 19:44105851
(GRCh38)
19:44610004
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44105850:TTTTTTT:TTTTTT
- Gene:
- ZNF224 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTT=0.000142/2
(
ALFA)
-=0.000045/12
(TOPMED)
-=0.000078/11
(GnomAD)
- HGVS:
16.
rs1486327383 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:44107276
(GRCh38)
19:44611429
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44107275:T:G
- Gene:
- ZNF224 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,stop_gained,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.44107276T>G, NC_000019.9:g.44611429T>G, NG_051221.1:g.17948T>G, NM_013398.5:c.1116T>G, NM_013398.4:c.1116T>G, NM_013398.3:c.1116T>G, NM_013398.2:c.1116T>G, NM_001321645.3:c.1116T>G, NM_001321645.2:c.1116T>G, NM_001321645.1:c.1116T>G, NR_033341.1:n.1424A>C, NM_005774.1:c.864T>G, NP_037530.2:p.Tyr372Ter, NP_001308574.1:p.Tyr372Ter
17.
rs1486277971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:44108106
(GRCh38)
19:44612259
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44108105:A:G
- Gene:
- ZNF224 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.44108106A>G, NC_000019.9:g.44612259A>G, NG_051221.1:g.18778A>G, NM_013398.5:c.1946A>G, NM_013398.4:c.1946A>G, NM_013398.3:c.1946A>G, NM_013398.2:c.1946A>G, NM_001321645.3:c.1946A>G, NM_001321645.2:c.1946A>G, NM_001321645.1:c.1946A>G, NR_033341.1:n.594T>C, NM_005774.1:c.1694A>G, NP_037530.2:p.Glu649Gly, NP_001308574.1:p.Glu649Gly
18.
rs1485891244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:44113163
(GRCh38)
19:44617316
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44113162:G:A
- Gene:
- ZNF225 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
19.
rs1485560392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 19:44107289
(GRCh38)
19:44611442
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44107288:T:C,NC_000019.10:44107288:T:G
- Gene:
- ZNF224 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.44107289T>C, NC_000019.10:g.44107289T>G, NC_000019.9:g.44611442T>C, NC_000019.9:g.44611442T>G, NG_051221.1:g.17961T>C, NG_051221.1:g.17961T>G, NM_013398.5:c.1129T>C, NM_013398.5:c.1129T>G, NM_013398.4:c.1129T>C, NM_013398.4:c.1129T>G, NM_013398.3:c.1129T>C, NM_013398.3:c.1129T>G, NM_013398.2:c.1129T>C, NM_013398.2:c.1129T>G, NM_001321645.3:c.1129T>C, NM_001321645.3:c.1129T>G, NM_001321645.2:c.1129T>C, NM_001321645.2:c.1129T>G, NM_001321645.1:c.1129T>C, NM_001321645.1:c.1129T>G, NR_033341.1:n.1411A>G, NR_033341.1:n.1411A>C, NM_005774.1:c.877T>C, NM_005774.1:c.877T>G, NP_037530.2:p.Cys377Arg, NP_037530.2:p.Cys377Gly, NP_001308574.1:p.Cys377Arg, NP_001308574.1:p.Cys377Gly
20.
rs1485480276 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44105792
(GRCh38)
19:44609945
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44105791:C:T
- Gene:
- ZNF224 (Varview), ZNF225-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000064/9
(GnomAD)
T=0.000072/19
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS: