Links from Gene
Items: 1 to 20 of 1000
1.
rs1491505269 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:169714637
(GRCh38)
6:170114733
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169714634:ATAT:AT
- Gene:
- PHF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
2.
rs1491405595 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTAT
[Show Flanks]
- Chromosome:
- 6:169709843
(GRCh38)
6:170109940
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169709843:TTTAT:TTTATTTAT
- Gene:
- PHF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTATTTAT=0./0
(
ALFA)
TTTA=0.000004/1
(TOPMED)
TTTA=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491148749 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:169709843
(GRCh38)
6:170109939
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169709842:CT:
- Gene:
- PHF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490968995 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:169722834
(GRCh38)
6:170122930
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169722833:G:A
- Gene:
- PHF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
5.
rs1490953137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:169721543
(GRCh38)
6:170121639
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169721542:G:A
- Gene:
- PHF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00003/8
(TOPMED)
A=0.000035/1
(TOMMO)
A=0.000036/5
(GnomAD)
- HGVS:
6.
rs1490461694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:169722441
(GRCh38)
6:170122537
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169722440:A:G
- Gene:
- PHF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490215248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:169714672
(GRCh38)
6:170114768
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169714671:A:C
- Gene:
- PHF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490152838 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:169722455
(GRCh38)
6:170122551
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169722454:A:G
- Gene:
- PHF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490058527 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:169706486
(GRCh38)
6:170106582
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169706485:C:T
- Gene:
- PHF10 (Varview), C6orf120 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_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)
T=0.000035/1
(TOMMO)
- HGVS:
11.
rs1489933663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:169720290
(GRCh38)
6:170120386
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169720289:A:G
- Gene:
- PHF10 (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:
12.
rs1489879712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 6:169704872
(GRCh38)
6:170104968
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169704871:A:C,NC_000006.12:169704871:A:G,NC_000006.12:169704871:A:T
- Gene:
- PHF10 (Varview), C6orf120 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.00034/1
(KOREAN)
- HGVS:
NC_000006.12:g.169704872A>C, NC_000006.12:g.169704872A>G, NC_000006.12:g.169704872A>T, NC_000006.11:g.170104968A>C, NC_000006.11:g.170104968A>G, NC_000006.11:g.170104968A>T, NG_046155.1:g.2192T>G, NG_046155.1:g.2192T>C, NG_046155.1:g.2192T>A, NM_001029863.3:c.*1837A>C, NM_001029863.3:c.*1837A>G, NM_001029863.3:c.*1837A>T, NM_001029863.2:c.*1837A>C, NM_001029863.2:c.*1837A>G, NM_001029863.2:c.*1837A>T, NM_001029863.1:c.*1837A>C, NM_001029863.1:c.*1837A>G, NM_001029863.1:c.*1837A>T, NM_001317342.2:c.*1837A>C, NM_001317342.2:c.*1837A>G, NM_001317342.2:c.*1837A>T, NM_001317342.1:c.*1837A>C, NM_001317342.1:c.*1837A>G, NM_001317342.1:c.*1837A>T
13.
rs1489679104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:169708221
(GRCh38)
6:170108317
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169708220:A:G
- Gene:
- PHF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
- HGVS:
15.
rs1489597614 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:169705097
(GRCh38)
6:170105193
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169705096:C:T
- Gene:
- PHF10 (Varview), C6orf120 (Varview)
- Functional Consequence:
- 3_prime_UTR_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)
T=0.00001/2
(GnomAD_exomes)
- HGVS:
17.
rs1489056839 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 6:169713274
(GRCh38)
6:170113370
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169713271:TTTT:TT
- Gene:
- PHF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000021/3
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
19.
rs1488841100 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTATT>-
[Show Flanks]
- Chromosome:
- 6:169717724
(GRCh38)
6:170117820
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169717717:TTTATTTTATT:TTTATT
- Gene:
- PHF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTATT=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000036/5
(GnomAD)
-=0.003333/2
(NorthernSweden)
- HGVS:
20.
rs1488806599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 6:169724118
(GRCh38)
6:170124214
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169724117:C:G,NC_000006.12:169724117:C:T
- Gene:
- PHF10 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS: