Links from Gene
Items: 1 to 20 of 1000
1.
rs1490322076 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:120250012
(GRCh38)
X:119383867
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120250011:A:G
- Gene:
- ZBTB33 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000019/2
(GnomAD)
- HGVS:
2.
rs1489587328 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:120254687
(GRCh38)
X:119388542
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120254686:T:C
- Gene:
- ZBTB33 (Varview), TMEM255A (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
3.
rs1489556279 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- X:120252672
(GRCh38)
X:119386527
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120252670:TCT:T
- Gene:
- ZBTB33 (Varview), TMEM255A (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
4.
rs1488043962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:120258583
(GRCh38)
X:119392438
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120258582:G:A
- Gene:
- ZBTB33 (Varview), TMEM255A (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
- HGVS:
6.
rs1486373066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- X:120258749
(GRCh38)
X:119392604
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120258748:A:C,NC_000023.11:120258748:A:G
- Gene:
- ZBTB33 (Varview), TMEM255A (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000023.11:g.120258749A>C, NC_000023.11:g.120258749A>G, NC_000023.10:g.119392604A>C, NC_000023.10:g.119392604A>G, NG_021334.1:g.12998A>C, NG_021334.1:g.12998A>G, NW_004070886.1:g.311179A>C, NW_004070886.1:g.311179A>G, NM_017938.4:c.*2121T>G, NM_017938.4:c.*2121T>C, NM_017938.3:c.*2121T>G, NM_017938.3:c.*2121T>C, NM_001104544.3:c.*2121T>G, NM_001104544.3:c.*2121T>C, NM_001104544.2:c.*2121T>G, NM_001104544.2:c.*2121T>C, NM_001104544.1:c.*2121T>G, NM_001104544.1:c.*2121T>C, NM_001104545.2:c.*2121T>G, NM_001104545.2:c.*2121T>C, NM_001104545.1:c.*2121T>G, NM_001104545.1:c.*2121T>C
7.
rs1486341941 has merged into rs1280467001 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- X:120257084
(GRCh38)
X:119390939
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120257083:AAAAAAAA:AAAAAAA,NC_000023.11:120257083:AAAAAAAA:AAAAAAAAA
- Gene:
- ZBTB33 (Varview), TMEM255A (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
-=0.00036/5
(TOMMO)
- HGVS:
NC_000023.11:g.120257091del, NC_000023.11:g.120257091dup, NC_000023.10:g.119390946del, NC_000023.10:g.119390946dup, NG_021334.1:g.11340del, NG_021334.1:g.11340dup, NM_006777.4:c.*1657del, NM_006777.4:c.*1657dup, NM_006777.3:c.*1657del, NM_006777.3:c.*1657dup, NM_001184742.2:c.*1657del, NM_001184742.2:c.*1657dup, NM_001184742.1:c.*1657del, NM_001184742.1:c.*1657dup, NW_004070886.1:g.309521del, NW_004070886.1:g.309521dup
8.
rs1486312267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:120256516
(GRCh38)
X:119390371
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120256515:C:A
- Gene:
- ZBTB33 (Varview), TMEM255A (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
9.
rs1486046460 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:120258115
(GRCh38)
X:119391970
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120258114:C:T
- Gene:
- ZBTB33 (Varview), TMEM255A (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
10.
rs1485973037 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:120249850
(GRCh38)
X:119383705
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120249849:T:G
- Gene:
- ZBTB33 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
11.
rs1485391377 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:120250669
(GRCh38)
X:119384524
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120250668:A:T
- Gene:
- ZBTB33 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000048/5
(GnomAD)
- HGVS:
12.
rs1485372920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:120257413
(GRCh38)
X:119391268
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120257412:G:T
- Gene:
- ZBTB33 (Varview), TMEM255A (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
13.
rs1485262195 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:120255768
(GRCh38)
X:119389623
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120255767:A:G
- Gene:
- ZBTB33 (Varview), TMEM255A (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
14.
rs1484679734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:120255706
(GRCh38)
X:119389561
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120255705:T:G
- Gene:
- ZBTB33 (Varview), TMEM255A (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1484641390 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:120253526
(GRCh38)
X:119387381
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120253525:T:C
- Gene:
- ZBTB33 (Varview), TMEM255A (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1484413964 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:120257289
(GRCh38)
X:119391144
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120257288:G:A
- Gene:
- ZBTB33 (Varview), TMEM255A (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1482752554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:120257913
(GRCh38)
X:119391768
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120257912:T:C
- Gene:
- ZBTB33 (Varview), TMEM255A (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000038/10
(TOPMED)
C=0.000038/4
(GnomAD)
- HGVS:
19.
rs1482113062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:120251628
(GRCh38)
X:119385483
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120251627:G:A
- Gene:
- ZBTB33 (Varview), TMEM255A (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000026/7
(TOPMED)
- HGVS:
20.
rs1481264358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:120250206
(GRCh38)
X:119384061
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120250205:A:G
- Gene:
- ZBTB33 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS: