Links from Gene
Items: 1 to 20 of 20560
1.
rs1491587508 has merged into rs11343474 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 17:59490031
(GRCh38)
17:57567392
(GRCh37)
- Canonical SPDI:
- NC_000017.11:59490019:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:59490019:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:59490019:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:59490019:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:59490019:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:59490019:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- LINC01476 (Varview), LOC124904040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0.0004/3
(
ALFA)
-=0.2991/1109
(TWINSUK)
-=0.3025/1166
(ALSPAC)
T=0.4463/2235
(1000Genomes)
-=0.45/18
(GENOME_DK)
- HGVS:
NC_000017.11:g.59490031_59490034del, NC_000017.11:g.59490032_59490034del, NC_000017.11:g.59490033_59490034del, NC_000017.11:g.59490034del, NC_000017.11:g.59490034dup, NC_000017.11:g.59490033_59490034dup, NC_000017.10:g.57567392_57567395del, NC_000017.10:g.57567393_57567395del, NC_000017.10:g.57567394_57567395del, NC_000017.10:g.57567395del, NC_000017.10:g.57567395dup, NC_000017.10:g.57567394_57567395dup
2.
rs1491576975 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 17:59490020
(GRCh38)
17:57567382
(GRCh37)
- Canonical SPDI:
- NC_000017.11:59490020::G
- Gene:
- LINC01476 (Varview), LOC124904040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000712/10
(
ALFA)
G=0.000434/115
(TOPMED)
G=0.001712/64
(GnomAD)
- HGVS:
3.
rs1491551639 has merged into rs33993006 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:59444208
(GRCh38)
17:57521569
(GRCh37)
- Canonical SPDI:
- NC_000017.11:59444192:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:59444192:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:59444192:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:59444192:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:59444192:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:59444192:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59444192:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59444192:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59444192:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59444192:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01476 (Varview), LOC124904040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.3039/1522
(1000Genomes)
- HGVS:
NC_000017.11:g.59444208_59444212del, NC_000017.11:g.59444209_59444212del, NC_000017.11:g.59444210_59444212del, NC_000017.11:g.59444211_59444212del, NC_000017.11:g.59444212del, NC_000017.11:g.59444212dup, NC_000017.11:g.59444211_59444212dup, NC_000017.11:g.59444210_59444212dup, NC_000017.11:g.59444209_59444212dup, NC_000017.11:g.59444205_59444212dup, NC_000017.10:g.57521569_57521573del, NC_000017.10:g.57521570_57521573del, NC_000017.10:g.57521571_57521573del, NC_000017.10:g.57521572_57521573del, NC_000017.10:g.57521573del, NC_000017.10:g.57521573dup, NC_000017.10:g.57521572_57521573dup, NC_000017.10:g.57521571_57521573dup, NC_000017.10:g.57521570_57521573dup, NC_000017.10:g.57521566_57521573dup
4.
rs1491522947 has merged into rs56697549 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:59434535
(GRCh38)
17:57511896
(GRCh37)
- Canonical SPDI:
- NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59434525:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01476 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.59434535_59434547del, NC_000017.11:g.59434536_59434547del, NC_000017.11:g.59434539_59434547del, NC_000017.11:g.59434540_59434547del, NC_000017.11:g.59434542_59434547del, NC_000017.11:g.59434543_59434547del, NC_000017.11:g.59434544_59434547del, NC_000017.11:g.59434545_59434547del, NC_000017.11:g.59434546_59434547del, NC_000017.11:g.59434547del, NC_000017.11:g.59434547dup, NC_000017.11:g.59434546_59434547dup, NC_000017.11:g.59434545_59434547dup, NC_000017.11:g.59434544_59434547dup, NC_000017.11:g.59434543_59434547dup, NC_000017.11:g.59434542_59434547dup, NC_000017.11:g.59434541_59434547dup, NC_000017.11:g.59434540_59434547dup, NC_000017.11:g.59434539_59434547dup, NC_000017.11:g.59434538_59434547dup, NC_000017.11:g.59434537_59434547dup, NC_000017.11:g.59434536_59434547dup, NC_000017.11:g.59434535_59434547dup, NC_000017.11:g.59434534_59434547dup, NC_000017.11:g.59434533_59434547dup, NC_000017.11:g.59434529_59434547dup, NC_000017.11:g.59434526_59434547A[32]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.57511896_57511908del, NC_000017.10:g.57511897_57511908del, NC_000017.10:g.57511900_57511908del, NC_000017.10:g.57511901_57511908del, NC_000017.10:g.57511903_57511908del, NC_000017.10:g.57511904_57511908del, NC_000017.10:g.57511905_57511908del, NC_000017.10:g.57511906_57511908del, NC_000017.10:g.57511907_57511908del, NC_000017.10:g.57511908del, NC_000017.10:g.57511908dup, NC_000017.10:g.57511907_57511908dup, NC_000017.10:g.57511906_57511908dup, NC_000017.10:g.57511905_57511908dup, NC_000017.10:g.57511904_57511908dup, NC_000017.10:g.57511903_57511908dup, NC_000017.10:g.57511902_57511908dup, NC_000017.10:g.57511901_57511908dup, NC_000017.10:g.57511900_57511908dup, NC_000017.10:g.57511899_57511908dup, NC_000017.10:g.57511898_57511908dup, NC_000017.10:g.57511897_57511908dup, NC_000017.10:g.57511896_57511908dup, NC_000017.10:g.57511895_57511908dup, NC_000017.10:g.57511894_57511908dup, NC_000017.10:g.57511890_57511908dup, NC_000017.10:g.57511887_57511908A[32]GAAAAAAAAAAAAAAAAAAAAAAA[1]
5.
rs1491515346 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 17:59479459
(GRCh38)
17:57556820
(GRCh37)
- Canonical SPDI:
- NC_000017.11:59479458:CC:
- Gene:
- LINC01476 (Varview), LOC124904040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000043/6
(GnomAD)
-=0.000781/5
(1000Genomes)
-=0.001026/17
(TOMMO)
-=0.003821/7
(Korea1K)
- HGVS:
7.
rs1491444922 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTC
[Show Flanks]
- Chromosome:
- 17:59479459
(GRCh38)
17:57556821
(GRCh37)
- Canonical SPDI:
- NC_000017.11:59479459:CTTC:CTTCTTC
- Gene:
- LINC01476 (Varview), LOC124904040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTTCTTC=0./0
(
ALFA)
CTT=0.000032/4
(GnomAD)
- HGVS:
8.
rs1491406056 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 17:59474152
(GRCh38)
17:57551513
(GRCh37)
- Canonical SPDI:
- NC_000017.11:59474151:AT:
- Gene:
- LINC01476 (Varview), LOC124904040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000028/3
(GnomAD)
- HGVS:
9.
rs1491405160 has merged into rs11337696 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:59485729
(GRCh38)
17:57563090
(GRCh37)
- Canonical SPDI:
- NC_000017.11:59485715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:59485715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:59485715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:59485715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:59485715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:59485715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:59485715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:59485715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59485715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01476 (Varview), LOC124904040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.096/370
(ALSPAC)
-=0.4411/2209
(1000Genomes)
- HGVS:
NC_000017.11:g.59485729_59485733del, NC_000017.11:g.59485730_59485733del, NC_000017.11:g.59485731_59485733del, NC_000017.11:g.59485732_59485733del, NC_000017.11:g.59485733del, NC_000017.11:g.59485733dup, NC_000017.11:g.59485732_59485733dup, NC_000017.11:g.59485731_59485733dup, NC_000017.11:g.59485730_59485733dup, NC_000017.10:g.57563090_57563094del, NC_000017.10:g.57563091_57563094del, NC_000017.10:g.57563092_57563094del, NC_000017.10:g.57563093_57563094del, NC_000017.10:g.57563094del, NC_000017.10:g.57563094dup, NC_000017.10:g.57563093_57563094dup, NC_000017.10:g.57563092_57563094dup, NC_000017.10:g.57563091_57563094dup
10.
rs1491387906 has merged into rs1240345874 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:59497460
(GRCh38)
17:57574821
(GRCh37)
- Canonical SPDI:
- NC_000017.11:59497448:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:59497448:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:59497448:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:59497448:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:59497448:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:59497448:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:59497448:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:59497448:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:59497448:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:59497448:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01476 (Varview), LOC124904040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.59497460_59497465del, NC_000017.11:g.59497461_59497465del, NC_000017.11:g.59497462_59497465del, NC_000017.11:g.59497463_59497465del, NC_000017.11:g.59497464_59497465del, NC_000017.11:g.59497465del, NC_000017.11:g.59497465dup, NC_000017.11:g.59497464_59497465dup, NC_000017.11:g.59497463_59497465dup, NC_000017.11:g.59497462_59497465dup, NC_000017.10:g.57574821_57574826del, NC_000017.10:g.57574822_57574826del, NC_000017.10:g.57574823_57574826del, NC_000017.10:g.57574824_57574826del, NC_000017.10:g.57574825_57574826del, NC_000017.10:g.57574826del, NC_000017.10:g.57574826dup, NC_000017.10:g.57574825_57574826dup, NC_000017.10:g.57574824_57574826dup, NC_000017.10:g.57574823_57574826dup
11.
rs1491372779 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 17:59483893
(GRCh38)
17:57561255
(GRCh37)
- Canonical SPDI:
- NC_000017.11:59483893:C:CC
- Gene:
- LINC01476 (Varview), LOC124904040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.00001/1
(GnomAD)
- HGVS:
12.
rs1491363631 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:59440636
(GRCh38)
17:57517997
(GRCh37)
- Canonical SPDI:
- NC_000017.11:59440635:CA:
- Gene:
- LINC01476 (Varview), LOC124904040 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0081/30
(TWINSUK)
-=0.0083/32
(ALSPAC)
- HGVS:
13.
rs1491354448 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 17:59457051
(GRCh38)
17:57534413
(GRCh37)
- Canonical SPDI:
- NC_000017.11:59457051:G:GG
- Gene:
- LINC01476 (Varview), LOC124904040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
14.
rs1491344635 has merged into rs776877722 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:59483889
(GRCh38)
17:57561250
(GRCh37)
- Canonical SPDI:
- NC_000017.11:59483876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:59483876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:59483876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:59483876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:59483876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:59483876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:59483876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:59483876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:59483876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59483876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59483876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59483876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59483876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01476 (Varview), LOC124904040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.15/6
(GENOME_DK)
- HGVS:
NC_000017.11:g.59483889_59483893del, NC_000017.11:g.59483890_59483893del, NC_000017.11:g.59483891_59483893del, NC_000017.11:g.59483892_59483893del, NC_000017.11:g.59483893del, NC_000017.11:g.59483893dup, NC_000017.11:g.59483892_59483893dup, NC_000017.11:g.59483891_59483893dup, NC_000017.11:g.59483890_59483893dup, NC_000017.11:g.59483889_59483893dup, NC_000017.11:g.59483886_59483893dup, NC_000017.11:g.59483885_59483893dup, NC_000017.11:g.59483893_59483894insAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.57561250_57561254del, NC_000017.10:g.57561251_57561254del, NC_000017.10:g.57561252_57561254del, NC_000017.10:g.57561253_57561254del, NC_000017.10:g.57561254del, NC_000017.10:g.57561254dup, NC_000017.10:g.57561253_57561254dup, NC_000017.10:g.57561252_57561254dup, NC_000017.10:g.57561251_57561254dup, NC_000017.10:g.57561250_57561254dup, NC_000017.10:g.57561247_57561254dup, NC_000017.10:g.57561246_57561254dup, NC_000017.10:g.57561254_57561255insAAAAAAAAAAAAAAAAAAAA
15.
rs1491336603 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 17:59443524
(GRCh38)
17:57520885
(GRCh37)
- Canonical SPDI:
- NC_000017.11:59443523:AT:
- Gene:
- LINC01476 (Varview), LOC124904040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000017/2
(GnomAD)
- HGVS:
19.
rs1491261068 has merged into rs565965950 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:59443537
(GRCh38)
17:57520898
(GRCh37)
- Canonical SPDI:
- NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:59443524:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01476 (Varview), LOC124904040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.4772/2390
(1000Genomes)
- HGVS:
NC_000017.11:g.59443537_59443545del, NC_000017.11:g.59443538_59443545del, NC_000017.11:g.59443539_59443545del, NC_000017.11:g.59443540_59443545del, NC_000017.11:g.59443541_59443545del, NC_000017.11:g.59443542_59443545del, NC_000017.11:g.59443543_59443545del, NC_000017.11:g.59443544_59443545del, NC_000017.11:g.59443545del, NC_000017.11:g.59443545dup, NC_000017.11:g.59443544_59443545dup, NC_000017.11:g.59443543_59443545dup, NC_000017.11:g.59443542_59443545dup, NC_000017.11:g.59443540_59443545dup, NC_000017.11:g.59443539_59443545dup, NC_000017.11:g.59443538_59443545dup, NC_000017.11:g.59443535_59443545dup, NC_000017.11:g.59443529_59443545dup, NC_000017.11:g.59443527_59443545dup, NC_000017.11:g.59443545_59443546insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.57520898_57520906del, NC_000017.10:g.57520899_57520906del, NC_000017.10:g.57520900_57520906del, NC_000017.10:g.57520901_57520906del, NC_000017.10:g.57520902_57520906del, NC_000017.10:g.57520903_57520906del, NC_000017.10:g.57520904_57520906del, NC_000017.10:g.57520905_57520906del, NC_000017.10:g.57520906del, NC_000017.10:g.57520906dup, NC_000017.10:g.57520905_57520906dup, NC_000017.10:g.57520904_57520906dup, NC_000017.10:g.57520903_57520906dup, NC_000017.10:g.57520901_57520906dup, NC_000017.10:g.57520900_57520906dup, NC_000017.10:g.57520899_57520906dup, NC_000017.10:g.57520896_57520906dup, NC_000017.10:g.57520890_57520906dup, NC_000017.10:g.57520888_57520906dup, NC_000017.10:g.57520906_57520907insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT