Links from Gene
Items: 1 to 20 of 1000
1.
rs1490794769 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:43360112
(GRCh38)
15:43652310
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43360111:A:G
- Gene:
- ZSCAN29 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000022/3
(GnomAD)
- HGVS:
2.
rs1490676537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 15:43369187
(GRCh38)
15:43661385
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43369186:A:T
- Gene:
- TUBGCP4 (Varview), ZSCAN29 (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:
3.
rs1490605138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:43363579
(GRCh38)
15:43655777
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43363578:C:T
- Gene:
- ZSCAN29 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490371478 has merged into rs34497135 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 15:43360648
(GRCh38)
15:43652846
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43360636:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:43360636:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:43360636:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:43360636:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:43360636:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- ZSCAN29 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.2/8
(GENOME_DK)
- HGVS:
NC_000015.10:g.43360648_43360650del, NC_000015.10:g.43360649_43360650del, NC_000015.10:g.43360650del, NC_000015.10:g.43360650dup, NC_000015.10:g.43360649_43360650dup, NC_000015.9:g.43652846_43652848del, NC_000015.9:g.43652847_43652848del, NC_000015.9:g.43652848del, NC_000015.9:g.43652848dup, NC_000015.9:g.43652847_43652848dup, NM_152455.4:c.*434_*436del, NM_152455.4:c.*435_*436del, NM_152455.4:c.*436del, NM_152455.4:c.*436dup, NM_152455.4:c.*435_*436dup, NM_152455.3:c.*434_*436del, NM_152455.3:c.*435_*436del, NM_152455.3:c.*436del, NM_152455.3:c.*436dup, NM_152455.3:c.*435_*436dup, XM_047432187.1:c.*434_*436del, XM_047432187.1:c.*435_*436del, XM_047432187.1:c.*436del, XM_047432187.1:c.*436dup, XM_047432187.1:c.*435_*436dup, NM_001372080.1:c.*434_*436del, NM_001372080.1:c.*435_*436del, NM_001372080.1:c.*436del, NM_001372080.1:c.*436dup, NM_001372080.1:c.*435_*436dup, XM_047432188.1:c.*434_*436del, XM_047432188.1:c.*435_*436del, XM_047432188.1:c.*436del, XM_047432188.1:c.*436dup, XM_047432188.1:c.*435_*436dup
6.
rs1489882427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:43360258
(GRCh38)
15:43652456
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43360257:T:C
- Gene:
- ZSCAN29 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489836171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:43359031
(GRCh38)
15:43651229
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43359030:C:T
- Gene:
- ZSCAN29 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
8.
rs1489580027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:43370305
(GRCh38)
15:43662503
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43370304:G:C
- Gene:
- TUBGCP4 (Varview), ZSCAN29 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1489430992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 15:43364913
(GRCh38)
15:43657111
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43364912:A:G,NC_000015.10:43364912:A:T
- Gene:
- ZSCAN29 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000061/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489040610 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:43361000
(GRCh38)
15:43653198
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43360999:T:C
- Gene:
- ZSCAN29 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489025572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:43361709
(GRCh38)
15:43653907
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43361708:T:C
- Gene:
- ZSCAN29 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
13.
rs1488945594 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:43371037
(GRCh38)
15:43663235
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43371036:C:A
- Gene:
- TUBGCP4 (Varview), ZSCAN29 (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=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
14.
rs1488834373 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:43368652
(GRCh38)
15:43660850
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43368651:A:G
- Gene:
- ZSCAN29 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1488759617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 15:43363192
(GRCh38)
15:43655390
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43363191:T:A
- Gene:
- ZSCAN29 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1488695905 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:43362275
(GRCh38)
15:43654473
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43362274:T:C
- Gene:
- ZSCAN29 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
17.
rs1488654979 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:43366495
(GRCh38)
15:43658693
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43366494:A:G
- Gene:
- ZSCAN29 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
G=0.000008/2
(GnomAD_exomes)
- HGVS:
18.
rs1488544029 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:43366271
(GRCh38)
15:43658469
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43366270:C:T
- Gene:
- ZSCAN29 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
- HGVS:
NC_000015.10:g.43366271C>T, NC_000015.9:g.43658469C>T, NG_042168.1:g.213C>T, NM_152455.4:c.1061G>A, NM_152455.3:c.1061G>A, XM_047432187.1:c.1061G>A, NM_001372080.1:c.1061G>A, XM_047432188.1:c.83G>A, NP_689668.3:p.Gly354Asp, XP_047288143.1:p.Gly354Asp, NP_001359009.1:p.Gly354Asp, XP_047288144.1:p.Gly28Asp
19.
rs1488511895 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:43363913
(GRCh38)
15:43656111
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43363912:A:G
- Gene:
- ZSCAN29 (Varview)
- Functional Consequence:
- splice_donor_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1488457504 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:43360305
(GRCh38)
15:43652503
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43360304:C:T
- Gene:
- ZSCAN29 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000022/3
(GnomAD)
- HGVS: