Links from Gene
Items: 1 to 20 of 2052
1.
rs1491128836 has merged into rs1005479509 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:180833488
(GRCh38)
5:180260488
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.180833488_180833497del, NC_000005.10:g.180833490_180833497del, NC_000005.10:g.180833491_180833497del, NC_000005.10:g.180833492_180833497del, NC_000005.10:g.180833493_180833497del, NC_000005.10:g.180833494_180833497del, NC_000005.10:g.180833495_180833497del, NC_000005.10:g.180833496_180833497del, NC_000005.10:g.180833497del, NC_000005.10:g.180833497dup, NC_000005.10:g.180833496_180833497dup, NC_000005.10:g.180833495_180833497dup, NC_000005.10:g.180833493_180833497dup, NC_000005.9:g.180260488_180260497del, NC_000005.9:g.180260490_180260497del, NC_000005.9:g.180260491_180260497del, NC_000005.9:g.180260492_180260497del, NC_000005.9:g.180260493_180260497del, NC_000005.9:g.180260494_180260497del, NC_000005.9:g.180260495_180260497del, NC_000005.9:g.180260496_180260497del, NC_000005.9:g.180260497del, NC_000005.9:g.180260497dup, NC_000005.9:g.180260496_180260497dup, NC_000005.9:g.180260495_180260497dup, NC_000005.9:g.180260493_180260497dup
2.
rs1490743415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 5:180835702
(GRCh38)
5:180262702
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180835701:T:A
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000034/9
(TOPMED)
- HGVS:
3.
rs1488487711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:180833479
(GRCh38)
5:180260479
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180833478:A:C
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
4.
rs1488162129 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:180833173
(GRCh38)
5:180260173
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180833172:G:A
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_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.
rs1486976672 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:180834206
(GRCh38)
5:180261206
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180834205:T:C
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1486945710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 5:180835368
(GRCh38)
5:180262368
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180835367:T:G
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000214/3
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000045/12
(TOPMED)
- HGVS:
7.
rs1486886909 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:180832093
(GRCh38)
5:180259093
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180832092:A:G
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000017/2
(GnomAD)
- HGVS:
8.
rs1486574763 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 5:180829196
(GRCh38)
5:180256197
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180829196::A
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1486521382 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:180832688
(GRCh38)
5:180259688
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180832687:G:A
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
10.
rs1486447536 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:180830744
(GRCh38)
5:180257744
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180830743:A:G
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00005/7
(GnomAD)
- HGVS:
11.
rs1486371272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:180832294
(GRCh38)
5:180259294
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180832293:A:G
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
12.
rs1486120950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 5:180831434
(GRCh38)
5:180258434
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180831433:G:C,NC_000005.10:180831433:G:T
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1485935853 has merged into rs3029538 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 5:180831427
(GRCh38)
5:180258427
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
TTT=0.025/1
(GENOME_DK)
TTT=0.05529/205
(TWINSUK)
TTT=0.07628/294
(ALSPAC)
- HGVS:
NC_000005.10:g.180831427_180831428del, NC_000005.10:g.180831428del, NC_000005.10:g.180831428dup, NC_000005.10:g.180831427_180831428dup, NC_000005.10:g.180831426_180831428dup, NC_000005.10:g.180831425_180831428dup, NC_000005.10:g.180831424_180831428dup, NC_000005.9:g.180258427_180258428del, NC_000005.9:g.180258428del, NC_000005.9:g.180258428dup, NC_000005.9:g.180258427_180258428dup, NC_000005.9:g.180258426_180258428dup, NC_000005.9:g.180258425_180258428dup, NC_000005.9:g.180258424_180258428dup, XR_007058622.1:n.202_203del, XR_007058622.1:n.203del, XR_007058622.1:n.203dup, XR_007058622.1:n.202_203dup, XR_007058622.1:n.201_203dup, XR_007058622.1:n.200_203dup, XR_007058622.1:n.199_203dup, XR_007058623.1:n.202_203del, XR_007058623.1:n.203del, XR_007058623.1:n.203dup, XR_007058623.1:n.202_203dup, XR_007058623.1:n.201_203dup, XR_007058623.1:n.200_203dup, XR_007058623.1:n.199_203dup, NR_045680.1:n.202_203del, NR_045680.1:n.203del, NR_045680.1:n.203dup, NR_045680.1:n.202_203dup, NR_045680.1:n.201_203dup, NR_045680.1:n.200_203dup, NR_045680.1:n.199_203dup
14.
rs1485875946 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 5:180831835
(GRCh38)
5:180258835
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180831834:GG:G
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
16.
rs1483967528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:180829289
(GRCh38)
5:180256289
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180829288:G:A
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1483910830 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:180831433
(GRCh38)
5:180258433
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180831432:C:T
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1483185880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:180835485
(GRCh38)
5:180262485
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180835484:A:G
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1482964529 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:180835912
(GRCh38)
5:180262912
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180835911:A:G
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1482881197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:180836108
(GRCh38)
5:180263108
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180836107:G:A
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: