Links from Gene
Items: 1 to 20 of 1000
3.
rs1491431938 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 18:1294143
(GRCh38)
18:1294144
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1294142:AT:
- Gene:
- LINC00470 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00051/6
(
ALFA)
-=0.00008/4
(GnomAD)
- HGVS:
4.
rs1491376082 has merged into rs1055810895 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAG>-,AGAGAG
[Show Flanks]
- Chromosome:
- 18:1334859
(GRCh38)
18:1334860
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1334851:GAGAGAGAGAG:GAGAGAG,NC_000018.10:1334851:GAGAGAGAGAG:GAGAGAGAGAGAG
- Gene:
- LINC00470 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGAGAGAG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
5.
rs1491373783 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 18:1294199
(GRCh38)
18:1294200
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1294197:TTT:T
- Gene:
- LINC00470 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00012/2
(
ALFA)
-=0.00014/4
(TOMMO)
- HGVS:
6.
rs1491311346 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 18:1286806
(GRCh38)
18:1286808
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1286806:C:CC
- Gene:
- LINC00470 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491225337 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 18:1347171
(GRCh38)
18:1347172
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1347169:ATA:A,NC_000018.10:1347169:ATA:ATATA
- Gene:
- LINC00470 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.004531/74
(
ALFA)
-=0.000814/14
(TOMMO)
-=0.002515/348
(GnomAD)
-=0.006667/4
(NorthernSweden)
-=0.011463/21
(Korea1K)
-=0.059871/222
(TWINSUK)
-=0.0685/264
(ALSPAC)
- HGVS:
8.
rs1491169750 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 18:1334851
(GRCh38)
18:1334852
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1334850:TG:
- Gene:
- LINC00470 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
9.
rs1491154925 has merged into rs4036865 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 18:1347159
(GRCh38)
18:1347160
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA
- Gene:
- LINC00470 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000018.10:g.1347147CA[6], NC_000018.10:g.1347147CA[8], NC_000018.10:g.1347147CA[9], NC_000018.10:g.1347147CA[10], NC_000018.10:g.1347147CA[11], NC_000018.10:g.1347147CA[13], NC_000018.10:g.1347147CA[14], NC_000018.10:g.1347147CA[15], NC_000018.10:g.1347147CA[16], NC_000018.10:g.1347147CA[17], NC_000018.9:g.1347148CA[6], NC_000018.9:g.1347148CA[8], NC_000018.9:g.1347148CA[9], NC_000018.9:g.1347148CA[10], NC_000018.9:g.1347148CA[11], NC_000018.9:g.1347148CA[13], NC_000018.9:g.1347148CA[14], NC_000018.9:g.1347148CA[15], NC_000018.9:g.1347148CA[16], NC_000018.9:g.1347148CA[17]
10.
rs1491134302 has merged into rs59879202 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 18:1284044
(GRCh38)
18:1284045
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- LINC00470 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACA=0./0
(
ALFA)
-=0.0345/173
(1000Genomes)
- HGVS:
NC_000018.10:g.1284030CA[7], NC_000018.10:g.1284030CA[8], NC_000018.10:g.1284030CA[9], NC_000018.10:g.1284030CA[10], NC_000018.10:g.1284030CA[11], NC_000018.10:g.1284030CA[12], NC_000018.10:g.1284030CA[13], NC_000018.10:g.1284030CA[14], NC_000018.10:g.1284030CA[15], NC_000018.10:g.1284030CA[16], NC_000018.10:g.1284030CA[17], NC_000018.10:g.1284030CA[18], NC_000018.10:g.1284030CA[19], NC_000018.10:g.1284030CA[20], NC_000018.10:g.1284030CA[22], NC_000018.10:g.1284030CA[23], NC_000018.10:g.1284030CA[24], NC_000018.10:g.1284030CA[25], NC_000018.10:g.1284030CA[26], NC_000018.10:g.1284030CA[27], NC_000018.10:g.1284030CA[28], NC_000018.10:g.1284030CA[29], NC_000018.10:g.1284030CA[30], NC_000018.10:g.1284030CA[31], NC_000018.10:g.1284030CA[37], NC_000018.10:g.1284030CA[38], NC_000018.9:g.1284031CA[7], NC_000018.9:g.1284031CA[8], NC_000018.9:g.1284031CA[9], NC_000018.9:g.1284031CA[10], NC_000018.9:g.1284031CA[11], NC_000018.9:g.1284031CA[12], NC_000018.9:g.1284031CA[13], NC_000018.9:g.1284031CA[14], NC_000018.9:g.1284031CA[15], NC_000018.9:g.1284031CA[16], NC_000018.9:g.1284031CA[17], NC_000018.9:g.1284031CA[18], NC_000018.9:g.1284031CA[19], NC_000018.9:g.1284031CA[20], NC_000018.9:g.1284031CA[22], NC_000018.9:g.1284031CA[23], NC_000018.9:g.1284031CA[24], NC_000018.9:g.1284031CA[25], NC_000018.9:g.1284031CA[26], NC_000018.9:g.1284031CA[27], NC_000018.9:g.1284031CA[28], NC_000018.9:g.1284031CA[29], NC_000018.9:g.1284031CA[30], NC_000018.9:g.1284031CA[31], NC_000018.9:g.1284031CA[37], NC_000018.9:g.1284031CA[38]
11.
rs1491103768 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATGTGTGTGTGT,ATGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 18:1294143
(GRCh38)
18:1294145
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1294143:T:TATGTGTGTGTGT,NC_000018.10:1294143:T:TATGTGTGTGTGTGT
- Gene:
- LINC00470 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATGTGTGTGTGTGT=0./0
(
ALFA)
TATGTGTGTGTGTG=0.000004/1
(TOPMED)
TATGTGTGTGTG=0.000032/3
(GnomAD)
- HGVS:
12.
rs1491044317 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 18:1288645
(GRCh38)
18:1288646
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1288644:AAAAAAA:AAAAAA,NC_000018.10:1288644:AAAAAAA:AAAAAAAA
- Gene:
- LINC00470 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
13.
rs1491023578 has merged into rs34611604 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 18:1328085
(GRCh38)
18:1328086
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1328073:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:1328073:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:1328073:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:1328073:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:1328073:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:1328073:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:1328073:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- LINC00470 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.4075/2041
(1000Genomes)
A=0.475/19
(GENOME_DK)
- HGVS:
NC_000018.10:g.1328085_1328087del, NC_000018.10:g.1328086_1328087del, NC_000018.10:g.1328087del, NC_000018.10:g.1328087dup, NC_000018.10:g.1328086_1328087dup, NC_000018.10:g.1328085_1328087dup, NC_000018.10:g.1328084_1328087dup, NC_000018.9:g.1328086_1328088del, NC_000018.9:g.1328087_1328088del, NC_000018.9:g.1328088del, NC_000018.9:g.1328088dup, NC_000018.9:g.1328087_1328088dup, NC_000018.9:g.1328086_1328088dup, NC_000018.9:g.1328085_1328088dup
14.
rs1491015764 has merged into rs141216352 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTG>-,TG,TGTGTG,TGTGTGTG,TGTGTGTGTG
[Show Flanks]
- Chromosome:
- 18:1274014
(GRCh38)
18:1274015
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1274000:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000018.10:1274000:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000018.10:1274000:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000018.10:1274000:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000018.10:1274000:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- LINC00470 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.00855/38
(1000Genomes)
GT=0.02333/14
(NorthernSweden)
GT=0.025/1
(GENOME_DK)
- HGVS:
16.
rs1490962334 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:1301638
(GRCh38)
18:1301639
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1301637:A:G
- Gene:
- LINC00470 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490942442 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:1302047
(GRCh38)
18:1302048
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1302046:A:G
- Gene:
- LINC00470 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490936249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:1340859
(GRCh38)
18:1340860
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1340858:A:G
- Gene:
- LINC00470 (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:
20.
rs1490910608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:1328826
(GRCh38)
18:1328827
(GRCh37)
- Canonical SPDI:
- NC_000018.10:1328825:G:A
- Gene:
- LINC00470 (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: