Links from Nucleotide
Items: 1 to 20 of 671
1.
rs1491399224 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 19:53215181
(GRCh38)
19:53718434
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53215180:GT:
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000699/93
(GnomAD)
-=0.002054/34
(TOMMO)
- HGVS:
2.
rs1491386213 has merged into rs1205672386 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 19:53215195
(GRCh38)
19:53718448
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53215181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:53215181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:53215181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:53215181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:53215181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:53215181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:53215181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.53215195_53215197del, NC_000019.10:g.53215196_53215197del, NC_000019.10:g.53215197del, NC_000019.10:g.53215197dup, NC_000019.10:g.53215196_53215197dup, NC_000019.10:g.53215195_53215197dup, NC_000019.10:g.53215194_53215197dup, NC_000019.9:g.53718448_53718450del, NC_000019.9:g.53718449_53718450del, NC_000019.9:g.53718450del, NC_000019.9:g.53718450dup, NC_000019.9:g.53718449_53718450dup, NC_000019.9:g.53718448_53718450dup, NC_000019.9:g.53718447_53718450dup, NR_073396.1:n.2248_2250del, NR_073396.1:n.2249_2250del, NR_073396.1:n.2250del, NR_073396.1:n.2250dup, NR_073396.1:n.2249_2250dup, NR_073396.1:n.2248_2250dup, NR_073396.1:n.2247_2250dup
3.
rs1489756183 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAATG>-
[Show Flanks]
- Chromosome:
- 19:53214457
(GRCh38)
19:53717710
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53214452:AATGTAATG:AATG
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AATG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
4.
rs1488526539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:53214860
(GRCh38)
19:53718113
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53214859:C:G
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
6.
rs1485226981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:53215691
(GRCh38)
19:53718944
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53215690:G:A
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
8.
rs1484281828 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CATT>-
[Show Flanks]
- Chromosome:
- 19:53214795
(GRCh38)
19:53718048
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53214791:ATTCATT:ATT
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
9.
rs1480818609 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 19:53213055
(GRCh38)
19:53716308
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53213052:TATA:TA
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
10.
rs1480767192 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:53213138
(GRCh38)
19:53716391
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53213137:A:C
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1480013963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:53214588
(GRCh38)
19:53717841
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53214587:G:C
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1479237220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:53214620
(GRCh38)
19:53717873
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53214619:C:T
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.00003/8
(TOPMED)
- HGVS:
13.
rs1477656455 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:53213035
(GRCh38)
19:53716288
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53213034:C:G
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1476544068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:53214176
(GRCh38)
19:53717429
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53214175:C:T
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_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:
15.
rs1474321074 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:53215247
(GRCh38)
19:53718500
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53215246:C:A,NC_000019.10:53215246:C:T
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000029/4
(GnomAD)
T=0.000156/1
(1000Genomes)
T=0.001097/18
(TOMMO)
C=0.5/1
(SGDP_PRJ)
- HGVS:
16.
rs1473306099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:53214427
(GRCh38)
19:53717680
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53214426:G:C
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
17.
rs1472916752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:53213373
(GRCh38)
19:53716626
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53213372:C:G
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1471997401 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:53214287
(GRCh38)
19:53717540
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53214286:A:G
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.0002/1
(
ALFA)
G=0.0002/1
(Estonian)
- HGVS:
20.
rs1466017027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:53215210
(GRCh38)
19:53718463
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53215209:C:T
- Gene:
- ZNF818P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000022/3
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS: