Links from Nucleotide
Items: 1 to 20 of 341
1.
rs1491376968 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGTGTGTGTG,CGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 22:24764625
(GRCh38)
22:25160593
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24764625:G:GCGTGTGTGTG,NC_000022.11:24764625:G:GCGTGTGTGTGTG
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGTGTGTGTGTG=0./0
(
ALFA)
GCGTGTGTGTGT=0.000004/1
(TOPMED)
GCGTGTGTGT=0.000008/1
(GnomAD)
- HGVS:
2.
rs1491268227 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 22:24764625
(GRCh38)
22:25160592
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24764624:CG:
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00027/5
(
ALFA)
-=0.00019/11
(GnomAD)
- HGVS:
3.
rs1489060161 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 22:24764767
(GRCh38)
22:25160734
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24764766:T:C,NC_000022.11:24764766:T:G
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
4.
rs1487535849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:24765662
(GRCh38)
22:25161629
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24765661:G:A
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1487395260 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 22:24764677
(GRCh38)
22:25160644
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24764676:GG:G
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000013/1
(GnomAD)
- HGVS:
8.
rs1483284009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:24765527
(GRCh38)
22:25161494
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24765526:T:C
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1483004200 has merged into rs140531011 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 22:24764642
(GRCh38)
22:25160609
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:24764625:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.2248/1126
(1000Genomes)
- HGVS:
NC_000022.11:g.24764626GT[8], NC_000022.11:g.24764626GT[10], NC_000022.11:g.24764626GT[11], NC_000022.11:g.24764626GT[12], NC_000022.11:g.24764626GT[13], NC_000022.11:g.24764626GT[14], NC_000022.11:g.24764626GT[15], NC_000022.11:g.24764626GT[16], NC_000022.11:g.24764626GT[17], NC_000022.11:g.24764626GT[18], NC_000022.11:g.24764626GT[19], NC_000022.11:g.24764626GT[20], NC_000022.11:g.24764626GT[21], NC_000022.11:g.24764626GT[23], NC_000022.11:g.24764626GT[24], NC_000022.11:g.24764626GT[25], NC_000022.11:g.24764626GT[26], NC_000022.11:g.24764626GT[27], NC_000022.11:g.24764626GT[28], NC_000022.11:g.24764626GT[29], NC_000022.11:g.24764626GT[30], NC_000022.11:g.24764626GT[31], NC_000022.11:g.24764626GT[32], NC_000022.11:g.24764626GT[33], NC_000022.11:g.24764626GT[34], NC_000022.11:g.24764626GT[35], NC_000022.11:g.24764626GT[36], NC_000022.11:g.24764626GT[37], NC_000022.11:g.24764626GT[38], NC_000022.11:g.24764626GT[39], NC_000022.11:g.24764626GT[40], NC_000022.11:g.24764626GT[41], NC_000022.11:g.24764626GT[42], NC_000022.11:g.24764626GT[43], NC_000022.11:g.24764626GT[44], NC_000022.11:g.24764626GT[46], NC_000022.10:g.25160593GT[8], NC_000022.10:g.25160593GT[10], NC_000022.10:g.25160593GT[11], NC_000022.10:g.25160593GT[12], NC_000022.10:g.25160593GT[13], NC_000022.10:g.25160593GT[14], NC_000022.10:g.25160593GT[15], NC_000022.10:g.25160593GT[16], NC_000022.10:g.25160593GT[17], NC_000022.10:g.25160593GT[18], NC_000022.10:g.25160593GT[19], NC_000022.10:g.25160593GT[20], NC_000022.10:g.25160593GT[21], NC_000022.10:g.25160593GT[23], NC_000022.10:g.25160593GT[24], NC_000022.10:g.25160593GT[25], NC_000022.10:g.25160593GT[26], NC_000022.10:g.25160593GT[27], NC_000022.10:g.25160593GT[28], NC_000022.10:g.25160593GT[29], NC_000022.10:g.25160593GT[30], NC_000022.10:g.25160593GT[31], NC_000022.10:g.25160593GT[32], NC_000022.10:g.25160593GT[33], NC_000022.10:g.25160593GT[34], NC_000022.10:g.25160593GT[35], NC_000022.10:g.25160593GT[36], NC_000022.10:g.25160593GT[37], NC_000022.10:g.25160593GT[38], NC_000022.10:g.25160593GT[39], NC_000022.10:g.25160593GT[40], NC_000022.10:g.25160593GT[41], NC_000022.10:g.25160593GT[42], NC_000022.10:g.25160593GT[43], NC_000022.10:g.25160593GT[44], NC_000022.10:g.25160593GT[46], NR_001283.1:n.126GT[8], NR_001283.1:n.126GT[10], NR_001283.1:n.126GT[11], NR_001283.1:n.126GT[12], NR_001283.1:n.126GT[13], NR_001283.1:n.126GT[14], NR_001283.1:n.126GT[15], NR_001283.1:n.126GT[16], NR_001283.1:n.126GT[17], NR_001283.1:n.126GT[18], NR_001283.1:n.126GT[19], NR_001283.1:n.126GT[20], NR_001283.1:n.126GT[21], NR_001283.1:n.126GT[23], NR_001283.1:n.126GT[24], NR_001283.1:n.126GT[25], NR_001283.1:n.126GT[26], NR_001283.1:n.126GT[27], NR_001283.1:n.126GT[28], NR_001283.1:n.126GT[29], NR_001283.1:n.126GT[30], NR_001283.1:n.126GT[31], NR_001283.1:n.126GT[32], NR_001283.1:n.126GT[33], NR_001283.1:n.126GT[34], NR_001283.1:n.126GT[35], NR_001283.1:n.126GT[36], NR_001283.1:n.126GT[37], NR_001283.1:n.126GT[38], NR_001283.1:n.126GT[39], NR_001283.1:n.126GT[40], NR_001283.1:n.126GT[41], NR_001283.1:n.126GT[42], NR_001283.1:n.126GT[43], NR_001283.1:n.126GT[44], NR_001283.1:n.126GT[46]
10.
rs1478921123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:24764588
(GRCh38)
22:25160555
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24764587:A:G
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
11.
rs1478886433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 22:24764858
(GRCh38)
22:25160825
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24764857:A:C
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1478187717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:24765897
(GRCh38)
22:25161864
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24765896:T:C
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- non_coding_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)
C=0.000312/2
(1000Genomes)
- HGVS:
13.
rs1476916061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:24764734
(GRCh38)
22:25160701
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24764733:C:G
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1474187736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:24764837
(GRCh38)
22:25160804
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24764836:C:T
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000034/9
(TOPMED)
- HGVS:
15.
rs1470868427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:24765112
(GRCh38)
22:25161079
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24765111:T:C
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
16.
rs1467403031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 22:24765715
(GRCh38)
22:25161682
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24765714:A:T
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1466852787 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 22:24765000
(GRCh38)
22:25160968
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24765000:T:TT
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
19.
rs1464208506 has merged into rs202032493 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 22:24765847
(GRCh38)
22:25161814
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24765846:AAAAAA:AAAAA,NC_000022.11:24765846:AAAAAA:AAAAAAA
- Gene:
- TOP1P2 (Varview), PIWIL3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.00021/4
(TOMMO)
-=0.00109/2
(Korea1K)
- HGVS: