Links from Gene
Items: 1 to 20 of 4894
1.
rs1491430425 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCT
[Show Flanks]
- Chromosome:
- 20:56586246
(GRCh38)
20:55161302
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56586243:CTCT:CT,NC_000020.11:56586243:CTCT:CTCTCT
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0.00092/14
(
ALFA)
-=0.00047/3
(1000Genomes)
-=0.00083/78
(GnomAD)
-=0.00609/101
(TOMMO)
- HGVS:
2.
rs1491354324 has merged into rs1173192228 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:56585908
(GRCh38)
20:55160964
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.00003/8
(TOPMED)
- HGVS:
NC_000020.11:g.56585908_56585917del, NC_000020.11:g.56585911_56585917del, NC_000020.11:g.56585912_56585917del, NC_000020.11:g.56585913_56585917del, NC_000020.11:g.56585914_56585917del, NC_000020.11:g.56585915_56585917del, NC_000020.11:g.56585916_56585917del, NC_000020.11:g.56585917del, NC_000020.11:g.56585917dup, NC_000020.11:g.56585916_56585917dup, NC_000020.11:g.56585915_56585917dup, NC_000020.11:g.56585914_56585917dup, NC_000020.11:g.56585913_56585917dup, NC_000020.11:g.56585912_56585917dup, NC_000020.11:g.56585911_56585917dup, NC_000020.11:g.56585910_56585917dup, NC_000020.11:g.56585909_56585917dup, NC_000020.11:g.56585908_56585917dup, NC_000020.11:g.56585907_56585917dup, NC_000020.11:g.56585906_56585917dup, NC_000020.11:g.56585905_56585917dup, NC_000020.11:g.56585904_56585917dup, NC_000020.11:g.56585903_56585917dup, NC_000020.11:g.56585902_56585917dup, NC_000020.11:g.56585901_56585917dup, NC_000020.11:g.56585900_56585917dup, NC_000020.11:g.56585899_56585917dup, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160964_55160973del, NC_000020.10:g.55160967_55160973del, NC_000020.10:g.55160968_55160973del, NC_000020.10:g.55160969_55160973del, NC_000020.10:g.55160970_55160973del, NC_000020.10:g.55160971_55160973del, NC_000020.10:g.55160972_55160973del, NC_000020.10:g.55160973del, NC_000020.10:g.55160973dup, NC_000020.10:g.55160972_55160973dup, NC_000020.10:g.55160971_55160973dup, NC_000020.10:g.55160970_55160973dup, NC_000020.10:g.55160969_55160973dup, NC_000020.10:g.55160968_55160973dup, NC_000020.10:g.55160967_55160973dup, NC_000020.10:g.55160966_55160973dup, NC_000020.10:g.55160965_55160973dup, NC_000020.10:g.55160964_55160973dup, NC_000020.10:g.55160963_55160973dup, NC_000020.10:g.55160962_55160973dup, NC_000020.10:g.55160961_55160973dup, NC_000020.10:g.55160960_55160973dup, NC_000020.10:g.55160959_55160973dup, NC_000020.10:g.55160958_55160973dup, NC_000020.10:g.55160957_55160973dup, NC_000020.10:g.55160956_55160973dup, NC_000020.10:g.55160955_55160973dup, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
4.
rs1491257815 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGTGTGTGTG
[Show Flanks]
- Chromosome:
- 20:56586247
(GRCh38)
20:55161304
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56586247:GTGTGTGTG:GTGTGTGTGAGTGTGTGTG
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGAGTGTGTGTG=0.00135/16
(
ALFA)
GTGTGTGTGA=0.00896/189
(GnomAD)
- HGVS:
5.
rs1491230149 has merged into rs149210176 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTG>-,TG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 20:56586263
(GRCh38)
20:55161319
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
NC_000020.11:g.56586247TG[8], NC_000020.11:g.56586247TG[9], NC_000020.11:g.56586247TG[11], NC_000020.11:g.56586247TG[12], NC_000020.11:g.56586247TG[13], NC_000020.11:g.56586247TG[14], NC_000020.11:g.56586247TG[15], NC_000020.11:g.56586247TG[16], NC_000020.11:g.56586247TG[17], NC_000020.11:g.56586247TG[19], NC_000020.11:g.56586247TG[20], NC_000020.11:g.56586247TG[21], NC_000020.11:g.56586247TG[22], NC_000020.11:g.56586247TG[23], NC_000020.11:g.56586247TG[24], NC_000020.11:g.56586247TG[25], NC_000020.11:g.56586247TG[26], NC_000020.11:g.56586247TG[27], NC_000020.11:g.56586247TG[28], NC_000020.10:g.55161303TG[8], NC_000020.10:g.55161303TG[9], NC_000020.10:g.55161303TG[11], NC_000020.10:g.55161303TG[12], NC_000020.10:g.55161303TG[13], NC_000020.10:g.55161303TG[14], NC_000020.10:g.55161303TG[15], NC_000020.10:g.55161303TG[16], NC_000020.10:g.55161303TG[17], NC_000020.10:g.55161303TG[19], NC_000020.10:g.55161303TG[20], NC_000020.10:g.55161303TG[21], NC_000020.10:g.55161303TG[22], NC_000020.10:g.55161303TG[23], NC_000020.10:g.55161303TG[24], NC_000020.10:g.55161303TG[25], NC_000020.10:g.55161303TG[26], NC_000020.10:g.55161303TG[27], NC_000020.10:g.55161303TG[28]
6.
rs1491229985 has merged into rs10580301 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA
[Show Flanks]
- Chromosome:
- 20:56576997
(GRCh38)
20:55152053
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56576984:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:56576984:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:56576984:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:56576984:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:56576984:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0.0052/31
(
ALFA)
AA=0.2827/1416
(1000Genomes)
- HGVS:
7.
rs1491228209 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 20:56576999
(GRCh38)
20:55152056
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56576999::G
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000084/1
(
ALFA)
G=0.000016/2
(GnomAD)
- HGVS:
8.
rs1491177931 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 20:56576984
(GRCh38)
20:55152040
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56576983:CA:
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00006/5
(GnomAD)
- HGVS:
9.
rs1491044144 has merged into rs11474428 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 20:56578676
(GRCh38)
20:55153732
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56578666:AAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:56578666:AAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:56578666:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:56578666:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:56578666:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:56578666:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.233/1167
(1000Genomes)
- HGVS:
NC_000020.11:g.56578676_56578678del, NC_000020.11:g.56578677_56578678del, NC_000020.11:g.56578678del, NC_000020.11:g.56578678dup, NC_000020.11:g.56578677_56578678dup, NC_000020.11:g.56578676_56578678dup, NC_000020.10:g.55153732_55153734del, NC_000020.10:g.55153733_55153734del, NC_000020.10:g.55153734del, NC_000020.10:g.55153734dup, NC_000020.10:g.55153733_55153734dup, NC_000020.10:g.55153732_55153734dup
10.
rs1491006049 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 20:56590542
(GRCh38)
20:55165598
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56590540:TGT:T
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
-=0.000179/25
(GnomAD)
-=0.000468/3
(1000Genomes)
- HGVS:
11.
rs1490852824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:56584951
(GRCh38)
20:55160007
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56584950:G:A
- Gene:
- LINC01716 (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)
- HGVS:
12.
rs1490599830 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTTT>-,TGTTTTGTTT
[Show Flanks]
- Chromosome:
- 20:56580892
(GRCh38)
20:55155948
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56580878:TTTTGTTTTGTTTTGTTT:TTTTGTTTTGTTT,NC_000020.11:56580878:TTTTGTTTTGTTTTGTTT:TTTTGTTTTGTTTTGTTTTGTTT
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTGTTTTGTTTTGTTTTGTTT=0./0
(
ALFA)
TTTTG=0.000004/1
(TOPMED)
TTTTG=0.000007/1
(GnomAD)
-=0.000546/1
(Korea1K)
- HGVS:
13.
rs1490511205 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 20:56585574
(GRCh38)
20:55160630
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56585573:C:A,NC_000020.11:56585573:C:G
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490474793 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:56587348
(GRCh38)
20:55162404
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56587347:C:G
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490270252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:56581767
(GRCh38)
20:55156823
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56581766:C:T
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490231309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:56595500
(GRCh38)
20:55170556
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56595499:G:A
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490042159 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:56584196
(GRCh38)
20:55159252
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56584195:G:A
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000054/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
A=0.000223/1
(Estonian)
- HGVS:
18.
rs1489890883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 20:56588019
(GRCh38)
20:55163075
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56588018:A:T
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
20.
rs1489832237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:56580395
(GRCh38)
20:55155451
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56580394:T:C
- Gene:
- LINC01716 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: