Links from Gene
Items: 1 to 20 of 4942
1.
rs1491003250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:57560847
(GRCh38)
19:58072215
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57560846:A:T
- Gene:
- ZNF550 (Varview), LOC124904781 (Varview)
- Functional Consequence:
- 5_prime_UTR_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:
2.
rs1490945365 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:57559640
(GRCh38)
19:58071008
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57559639:G:C
- Gene:
- ZNF550 (Varview), LOC124904781 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
3.
rs1490849773 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:57559895
(GRCh38)
19:58071263
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57559894:T:C
- Gene:
- ZNF550 (Varview), LOC124904781 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490299649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:57553739
(GRCh38)
19:58065107
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57553738:A:C
- Gene:
- ZNF550 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
6.
rs1490266765 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 19:57542065
(GRCh38)
19:58053434
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57542065:T:TT
- Gene:
- ZNF550 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000019.10:g.57542066dup, NC_000019.9:g.58053434dup, NM_001277090.2:c.*2629dup, NM_001277090.1:c.*2629dup, NM_153231.2:c.*2628dup, NM_001277091.2:c.*2043dup, NM_001277091.1:c.*2043dup, NM_001277092.2:c.*1696dup, NM_001277092.1:c.*1696dup, NM_001277093.2:c.*1134dup, NM_001277093.1:c.*1134dup, NM_001397372.1:c.*4909dup, XM_047438312.1:c.*2629dup, XM_047438311.1:c.*1696dup, NM_153231.1:c.*2043dup
7.
rs1490181645 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:57561637
(GRCh38)
19:58073005
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57561636:C:T
- Gene:
- ZNF550 (Varview), LOC124904781 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1489799420 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:57547647
(GRCh38)
19:58059015
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57547646:C:G
- Gene:
- ZNF550 (Varview)
- Functional Consequence:
- synonymous_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000056/2
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
NC_000019.10:g.57547647C>G, NC_000019.9:g.58059015C>G, NM_001277090.2:c.597G>C, NM_001277090.1:c.597G>C, NM_153231.2:c.570G>C, NM_001277091.2:c.597G>C, NM_001277091.1:c.597G>C, NM_001277092.2:c.597G>C, NM_001277092.1:c.597G>C, NM_001397372.1:c.597G>C, XM_047438312.1:c.570G>C, XM_047438311.1:c.570G>C, NM_001039654.1:c.474G>C, NM_153231.1:c.570G>C
9.
rs1489683598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:57563341
(GRCh38)
19:58074709
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57563340:G:A
- Gene:
- ZNF550 (Varview), LOC124904781 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489653213 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:57562303
(GRCh38)
19:58073671
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57562302:A:T
- Gene:
- ZNF550 (Varview), LOC124904781 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,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:
11.
rs1489619639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:57559089
(GRCh38)
19:58070457
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57559088:A:C
- Gene:
- ZNF550 (Varview), LOC124904781 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1489574802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:57561506
(GRCh38)
19:58072874
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57561505:A:G
- Gene:
- ZNF550 (Varview), LOC124904781 (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=0.000014/2
(GnomAD)
- HGVS:
14.
rs1489364521 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:57542858
(GRCh38)
19:58054226
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57542857:G:A
- Gene:
- ZNF550 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.57542858G>A, NC_000019.9:g.58054226G>A, NM_001277090.2:c.*1837C>T, NM_001277090.1:c.*1837C>T, NM_153231.2:c.*1837C>T, NM_001277091.2:c.*1251C>T, NM_001277091.1:c.*1251C>T, NM_001277092.2:c.*904C>T, NM_001277092.1:c.*904C>T, NM_001277093.2:c.*342C>T, NM_001277093.1:c.*342C>T, NM_001397372.1:c.*4117C>T, XM_047438312.1:c.*1837C>T, XM_047438311.1:c.*904C>T, NM_153231.1:c.*1251C>T
15.
rs1489240668 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 19:57553127
(GRCh38)
19:58064496
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57553127:TTT:TTTT
- Gene:
- ZNF550 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
16.
rs1489188527 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:57554230
(GRCh38)
19:58065598
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57554229:G:A
- Gene:
- ZNF550 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1488872803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:57554814
(GRCh38)
19:58066182
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57554813:C:T
- Gene:
- ZNF550 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1488861056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:57554738
(GRCh38)
19:58066106
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57554737:T:A
- Gene:
- ZNF550 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000026/7
(TOPMED)
- HGVS:
19.
rs1488614881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:57562665
(GRCh38)
19:58074033
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57562664:C:T
- Gene:
- ZNF550 (Varview), LOC124904781 (Varview)
- Functional Consequence:
- 2KB_upstream_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:
20.
rs1488528411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:57550969
(GRCh38)
19:58062337
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57550968:C:G
- Gene:
- ZNF550 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: