Links from Gene
Items: 1 to 20 of 1000
2.
rs1491284466 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 16:3098042
(GRCh38)
16:3148043
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3098041:CA:
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0013/5
(TWINSUK)
-=0.0029/11
(ALSPAC)
- HGVS:
3.
rs1491235714 has merged into rs34194103 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 16:3097107
(GRCh38)
16:3147108
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3097096:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:3097096:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:3097096:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:3097096:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:3097096:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:3097096:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.36027/214
(NorthernSweden)
A=0.41818/2678
(1000Genomes)
A=0.46454/7782
(TOMMO)
-=0.46926/1740
(TWINSUK)
-=0.48573/1872
(ALSPAC)
A=0.5/20
(GENOME_DK)
- HGVS:
NC_000016.10:g.3097107_3097110del, NC_000016.10:g.3097108_3097110del, NC_000016.10:g.3097109_3097110del, NC_000016.10:g.3097110del, NC_000016.10:g.3097110dup, NC_000016.10:g.3097109_3097110dup, NC_000016.9:g.3147108_3147111del, NC_000016.9:g.3147109_3147111del, NC_000016.9:g.3147110_3147111del, NC_000016.9:g.3147111del, NC_000016.9:g.3147111dup, NC_000016.9:g.3147110_3147111dup
4.
rs1491224988 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 16:3098089
(GRCh38)
16:3148091
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3098089:G:GG
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490898056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:3097806
(GRCh38)
16:3147807
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3097805:C:T
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- 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:
7.
rs1490770948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:3092766
(GRCh38)
16:3142767
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3092765:G:A,NC_000016.10:3092765:G:T
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000016.10:g.3092766G>A, NC_000016.10:g.3092766G>T, NC_000016.9:g.3142767G>A, NC_000016.9:g.3142767G>T, NM_032805.3:c.172C>T, NM_032805.3:c.172C>A, NM_032805.2:c.172C>T, NM_032805.2:c.172C>A, NM_032805.1:c.7C>T, NM_032805.1:c.7C>A, NM_001282416.2:c.29C>T, NM_001282416.2:c.29C>A, NM_001282416.1:c.29C>T, NM_001282416.1:c.29C>A, NM_001365272.1:c.29C>T, NM_001365272.1:c.29C>A, NP_116194.2:p.Pro58Ser, NP_116194.2:p.Pro58Thr, NP_001269345.1:p.Ala10Val, NP_001269345.1:p.Ala10Asp, NP_001352201.1:p.Ala10Val, NP_001352201.1:p.Ala10Asp
8.
rs1489831827 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TT
[Show Flanks]
- Chromosome:
- 16:3098835
(GRCh38)
16:3148837
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3098835:TTT:TTTTT
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
TT=0.000029/4
(GnomAD)
TT=0.000053/14
(TOPMED)
- HGVS:
9.
rs1489794136 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:3097745
(GRCh38)
16:3147746
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3097744:A:G
- Gene:
- ZSCAN10 (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:
10.
rs1489768068 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 16:3095869
(GRCh38)
16:3145871
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3095869::G
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000022/3
(GnomAD)
- HGVS:
11.
rs1489646377 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:3092760
(GRCh38)
16:3142761
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3092759:C:A,NC_000016.10:3092759:C:T
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000016.10:g.3092760C>A, NC_000016.10:g.3092760C>T, NC_000016.9:g.3142761C>A, NC_000016.9:g.3142761C>T, NM_032805.3:c.178G>T, NM_032805.3:c.178G>A, NM_032805.2:c.178G>T, NM_032805.2:c.178G>A, NM_032805.1:c.13G>T, NM_032805.1:c.13G>A, NM_001282416.2:c.35G>T, NM_001282416.2:c.35G>A, NM_001282416.1:c.35G>T, NM_001282416.1:c.35G>A, NM_001365272.1:c.35G>T, NM_001365272.1:c.35G>A, NP_116194.2:p.Ala60Ser, NP_116194.2:p.Ala60Thr, NP_001269345.1:p.Gly12Val, NP_001269345.1:p.Gly12Asp, NP_001352201.1:p.Gly12Val, NP_001352201.1:p.Gly12Asp
12.
rs1489604691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:3096444
(GRCh38)
16:3146445
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3096443:C:T
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
13.
rs1489509776 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:3092400
(GRCh38)
16:3142401
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3092399:G:A
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489122799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:3099085
(GRCh38)
16:3149086
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3099084:C:T
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
15.
rs1488838619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 16:3091607
(GRCh38)
16:3141608
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3091606:G:A,NC_000016.10:3091606:G:C
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
A=0.000023/6
(TOPMED)
- HGVS:
16.
rs1488796864 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:3090276
(GRCh38)
16:3140277
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3090275:G:A
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000023/6
(TOPMED)
- HGVS:
NC_000016.10:g.3090276G>A, NC_000016.9:g.3140277G>A, NM_032805.3:c.1158C>T, NM_032805.2:c.1158C>T, NM_032805.1:c.993C>T, NM_001282416.2:c.747C>T, NM_001282416.1:c.747C>T, NM_001282415.2:c.-25C>T, NM_001282415.1:c.-25C>T, NM_001365272.1:c.612C>T, NM_001365273.1:c.-25C>T
17.
rs1488656119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:3098284
(GRCh38)
16:3148285
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3098283:C:T
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
18.
rs1488308171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:3093539
(GRCh38)
16:3143540
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3093538:C:A,NC_000016.10:3093538:C:T
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
19.
rs1488184446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:3092563
(GRCh38)
16:3142564
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3092562:C:T
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1488139261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 16:3098731
(GRCh38)
16:3148732
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3098730:T:A
- Gene:
- ZSCAN10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS: