Links from Gene
Items: 1 to 20 of 7693
1.
rs1491556024 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 7:149840053
(GRCh38)
7:149537143
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149840053:A:AA
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
3.
rs1491379830 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 7:149836401
(GRCh38)
7:149533490
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149836400:AG:
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000084/1
(
ALFA)
-=0.000015/2
(GnomAD)
-=0.000468/3
(1000Genomes)
-=0.000495/8
(TOMMO)
-=0.000546/1
(Korea1K)
- HGVS:
4.
rs1491341029 has merged into rs796413969 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGAGA>-,GA,GAGA,GAGAGAGA,GAGAGAGAGA
[Show Flanks]
- Chromosome:
- 7:149852385
(GRCh38)
7:149549474
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149852372:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGA,NC_000007.14:149852372:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGA,NC_000007.14:149852372:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000007.14:149852372:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000007.14:149852372:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGAGAGAGAGAGAGAGA=0./0
(
ALFA)
-=0.30043/1114
(TWINSUK)
-=0.32641/1258
(ALSPAC)
- HGVS:
NC_000007.14:g.149852373GA[6], NC_000007.14:g.149852373GA[7], NC_000007.14:g.149852373GA[8], NC_000007.14:g.149852373GA[10], NC_000007.14:g.149852373GA[11], NC_000007.13:g.149549462GA[6], NC_000007.13:g.149549462GA[7], NC_000007.13:g.149549462GA[8], NC_000007.13:g.149549462GA[10], NC_000007.13:g.149549462GA[11], NG_051961.1:g.18408GA[6], NG_051961.1:g.18408GA[7], NG_051961.1:g.18408GA[8], NG_051961.1:g.18408GA[10], NG_051961.1:g.18408GA[11]
6.
rs1491183940 has merged into rs36025495 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:149836505
(GRCh38)
7:149533594
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.494/256
(NorthernSweden)
- HGVS:
NC_000007.14:g.149836505_149836516del, NC_000007.14:g.149836508_149836516del, NC_000007.14:g.149836510_149836516del, NC_000007.14:g.149836511_149836516del, NC_000007.14:g.149836512_149836516del, NC_000007.14:g.149836513_149836516del, NC_000007.14:g.149836514_149836516del, NC_000007.14:g.149836515_149836516del, NC_000007.14:g.149836516del, NC_000007.14:g.149836516dup, NC_000007.14:g.149836515_149836516dup, NC_000007.14:g.149836514_149836516dup, NC_000007.14:g.149836513_149836516dup, NC_000007.14:g.149836512_149836516dup, NC_000007.14:g.149836511_149836516dup, NC_000007.14:g.149836510_149836516dup, NC_000007.14:g.149836509_149836516dup, NC_000007.14:g.149836508_149836516dup, NC_000007.14:g.149836500_149836516dup, NC_000007.13:g.149533594_149533605del, NC_000007.13:g.149533597_149533605del, NC_000007.13:g.149533599_149533605del, NC_000007.13:g.149533600_149533605del, NC_000007.13:g.149533601_149533605del, NC_000007.13:g.149533602_149533605del, NC_000007.13:g.149533603_149533605del, NC_000007.13:g.149533604_149533605del, NC_000007.13:g.149533605del, NC_000007.13:g.149533605dup, NC_000007.13:g.149533604_149533605dup, NC_000007.13:g.149533603_149533605dup, NC_000007.13:g.149533602_149533605dup, NC_000007.13:g.149533601_149533605dup, NC_000007.13:g.149533600_149533605dup, NC_000007.13:g.149533599_149533605dup, NC_000007.13:g.149533598_149533605dup, NC_000007.13:g.149533597_149533605dup, NC_000007.13:g.149533589_149533605dup, NG_051961.1:g.2540_2551del, NG_051961.1:g.2543_2551del, NG_051961.1:g.2545_2551del, NG_051961.1:g.2546_2551del, NG_051961.1:g.2547_2551del, NG_051961.1:g.2548_2551del, NG_051961.1:g.2549_2551del, NG_051961.1:g.2550_2551del, NG_051961.1:g.2551del, NG_051961.1:g.2551dup, NG_051961.1:g.2550_2551dup, NG_051961.1:g.2549_2551dup, NG_051961.1:g.2548_2551dup, NG_051961.1:g.2547_2551dup, NG_051961.1:g.2546_2551dup, NG_051961.1:g.2545_2551dup, NG_051961.1:g.2544_2551dup, NG_051961.1:g.2543_2551dup, NG_051961.1:g.2535_2551dup
7.
rs1491177410 has merged into rs34196240 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:149846140
(GRCh38)
7:149543229
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0.00165/36
(
ALFA)
T=0.08833/53
(NorthernSweden)
- HGVS:
NC_000007.14:g.149846140_149846142del, NC_000007.14:g.149846141_149846142del, NC_000007.14:g.149846142del, NC_000007.14:g.149846142dup, NC_000007.14:g.149846141_149846142dup, NC_000007.14:g.149846140_149846142dup, NC_000007.14:g.149846139_149846142dup, NC_000007.14:g.149846134_149846142dup, NC_000007.13:g.149543229_149543231del, NC_000007.13:g.149543230_149543231del, NC_000007.13:g.149543231del, NC_000007.13:g.149543231dup, NC_000007.13:g.149543230_149543231dup, NC_000007.13:g.149543229_149543231dup, NC_000007.13:g.149543228_149543231dup, NC_000007.13:g.149543223_149543231dup, NG_051961.1:g.12175_12177del, NG_051961.1:g.12176_12177del, NG_051961.1:g.12177del, NG_051961.1:g.12177dup, NG_051961.1:g.12176_12177dup, NG_051961.1:g.12175_12177dup, NG_051961.1:g.12174_12177dup, NG_051961.1:g.12169_12177dup
8.
rs1491150635 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:149836401
(GRCh38)
7:149533491
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149836401:GGGG:GGGGG
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0.000071/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
9.
rs1491122072 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 7:149840054
(GRCh38)
7:149537143
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149840052:CAC:C
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
11.
rs1490954184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:149838404
(GRCh38)
7:149535493
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149838403:A:C
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
12.
rs1490865097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:149853666
(GRCh38)
7:149550755
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149853665:G:A
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
13.
rs1490849090 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:149867554
(GRCh38)
7:149564643
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149867553:C:T
- Gene:
- ATP6V0E2-AS1 (Varview), ZNF862 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000038/10
(TOPMED)
- HGVS:
14.
rs1490635419 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 7:149842118
(GRCh38)
7:149539207
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149842117:TT:T
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490604088 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:149860716
(GRCh38)
7:149557805
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149860715:A:G
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000028/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
NC_000007.14:g.149860716A>G, NC_000007.13:g.149557805A>G, NG_051961.1:g.26751A>G, NM_001099220.3:c.1556A>G, NM_001099220.2:c.1556A>G, NM_001099220.1:c.1556A>G, XM_006716085.4:c.1598A>G, XM_006716085.3:c.1598A>G, XM_006716085.2:c.1598A>G, XM_006716085.1:c.1598A>G, XM_011516465.3:c.584A>G, XM_011516465.2:c.584A>G, XM_011516465.1:c.584A>G, XM_011516466.3:c.323A>G, XM_011516466.2:c.323A>G, XM_011516466.1:c.323A>G, XM_011516464.2:c.1577A>G, XM_011516464.1:c.1577A>G, XM_017012519.2:c.1535A>G, XM_017012519.1:c.1535A>G, XM_011516463.1:c.1598A>G, XM_024446866.1:c.1304A>G, NP_001092690.1:p.His519Arg, XP_006716148.1:p.His533Arg, XP_011514767.1:p.His195Arg, XP_011514768.1:p.His108Arg, XP_011514766.1:p.His526Arg, XP_016868008.1:p.His512Arg, XP_011514765.1:p.His533Arg, XP_024302634.1:p.His435Arg
16.
rs1490580631 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 7:149845618
(GRCh38)
7:149542707
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149845617:A:
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000038/10
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
17.
rs1490562034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:149860060
(GRCh38)
7:149557149
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149860059:C:T
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490533792 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:149844529
(GRCh38)
7:149541618
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149844528:C:T
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000546/1
(Korea1K)
- HGVS:
19.
rs1490370624 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:149853182
(GRCh38)
7:149550271
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149853181:G:A,NC_000007.14:149853181:G:C
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
20.
rs1490252053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:149846588
(GRCh38)
7:149543677
(GRCh37)
- Canonical SPDI:
- NC_000007.14:149846587:A:T
- Gene:
- ZNF862 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000016/2
(GnomAD)
- HGVS: