Links from Gene
Items: 1 to 20 of 1000
2.
rs1491581494 has merged into rs72323362 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 18:64273570
(GRCh38)
18:61940805
(GRCh37)
- Canonical SPDI:
- NC_000018.10:64273558:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:64273558:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:64273558:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:64273558:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:64273558:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:64273558:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- LINC01924 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
TT=0.000004/1
(TOPMED)
-=0.041667/25
(NorthernSweden)
-=0.074987/289
(ALSPAC)
-=0.076052/282
(TWINSUK)
-=0.175/7
(GENOME_DK)
- HGVS:
NC_000018.10:g.64273570_64273572del, NC_000018.10:g.64273571_64273572del, NC_000018.10:g.64273572del, NC_000018.10:g.64273572dup, NC_000018.10:g.64273571_64273572dup, NC_000018.10:g.64273570_64273572dup, NC_000018.9:g.61940805_61940807del, NC_000018.9:g.61940806_61940807del, NC_000018.9:g.61940807del, NC_000018.9:g.61940807dup, NC_000018.9:g.61940806_61940807dup, NC_000018.9:g.61940805_61940807dup
3.
rs1491575176 has merged into rs140820410 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 18:64367079
(GRCh38)
18:62034314
(GRCh37)
- Canonical SPDI:
- NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:64367070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01924 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.472/2364
(1000Genomes)
- HGVS:
NC_000018.10:g.64367079_64367089del, NC_000018.10:g.64367081_64367089del, NC_000018.10:g.64367082_64367089del, NC_000018.10:g.64367083_64367089del, NC_000018.10:g.64367084_64367089del, NC_000018.10:g.64367085_64367089del, NC_000018.10:g.64367086_64367089del, NC_000018.10:g.64367087_64367089del, NC_000018.10:g.64367088_64367089del, NC_000018.10:g.64367089del, NC_000018.10:g.64367089dup, NC_000018.10:g.64367088_64367089dup, NC_000018.10:g.64367087_64367089dup, NC_000018.10:g.64367086_64367089dup, NC_000018.10:g.64367084_64367089dup, NC_000018.10:g.64367082_64367089dup, NC_000018.10:g.64367074_64367089dup, NC_000018.9:g.62034314_62034324del, NC_000018.9:g.62034316_62034324del, NC_000018.9:g.62034317_62034324del, NC_000018.9:g.62034318_62034324del, NC_000018.9:g.62034319_62034324del, NC_000018.9:g.62034320_62034324del, NC_000018.9:g.62034321_62034324del, NC_000018.9:g.62034322_62034324del, NC_000018.9:g.62034323_62034324del, NC_000018.9:g.62034324del, NC_000018.9:g.62034324dup, NC_000018.9:g.62034323_62034324dup, NC_000018.9:g.62034322_62034324dup, NC_000018.9:g.62034321_62034324dup, NC_000018.9:g.62034319_62034324dup, NC_000018.9:g.62034317_62034324dup, NC_000018.9:g.62034309_62034324dup
4.
rs1491570556 has merged into rs34223284 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 18:64222492
(GRCh38)
18:61889727
(GRCh37)
- Canonical SPDI:
- NC_000018.10:64222481:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:64222481:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:64222481:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:64222481:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:64222481:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:64222481:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:64222481:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:64222481:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:64222481:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01924 (Varview), LINC01538 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.0413/159
(ALSPAC)
-=0.4446/257
(NorthernSweden)
A=0.4527/2267
(1000Genomes)
-=0.475/19
(GENOME_DK)
- HGVS:
NC_000018.10:g.64222492_64222498del, NC_000018.10:g.64222495_64222498del, NC_000018.10:g.64222496_64222498del, NC_000018.10:g.64222497_64222498del, NC_000018.10:g.64222498del, NC_000018.10:g.64222498dup, NC_000018.10:g.64222497_64222498dup, NC_000018.10:g.64222496_64222498dup, NC_000018.10:g.64222491_64222498dup, NC_000018.9:g.61889727_61889733del, NC_000018.9:g.61889730_61889733del, NC_000018.9:g.61889731_61889733del, NC_000018.9:g.61889732_61889733del, NC_000018.9:g.61889733del, NC_000018.9:g.61889733dup, NC_000018.9:g.61889732_61889733dup, NC_000018.9:g.61889731_61889733dup, NC_000018.9:g.61889726_61889733dup
6.
rs1491553630 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 18:64183119
(GRCh38)
18:61850355
(GRCh37)
- Canonical SPDI:
- NC_000018.10:64183119:C:CC
- Gene:
- LINC01924 (Varview), LOC124904357 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491538492 has merged into rs67728348 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 18:64350176
(GRCh38)
18:62017411
(GRCh37)
- Canonical SPDI:
- NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:64350167:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01924 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000018.10:g.64350176_64350187del, NC_000018.10:g.64350180_64350187del, NC_000018.10:g.64350181_64350187del, NC_000018.10:g.64350182_64350187del, NC_000018.10:g.64350184_64350187del, NC_000018.10:g.64350185_64350187del, NC_000018.10:g.64350186_64350187del, NC_000018.10:g.64350187del, NC_000018.10:g.64350187dup, NC_000018.10:g.64350186_64350187dup, NC_000018.10:g.64350185_64350187dup, NC_000018.10:g.64350184_64350187dup, NC_000018.10:g.64350183_64350187dup, NC_000018.10:g.64350182_64350187dup, NC_000018.10:g.64350181_64350187dup, NC_000018.10:g.64350180_64350187dup, NC_000018.10:g.64350175_64350187dup, NC_000018.9:g.62017411_62017422del, NC_000018.9:g.62017415_62017422del, NC_000018.9:g.62017416_62017422del, NC_000018.9:g.62017417_62017422del, NC_000018.9:g.62017419_62017422del, NC_000018.9:g.62017420_62017422del, NC_000018.9:g.62017421_62017422del, NC_000018.9:g.62017422del, NC_000018.9:g.62017422dup, NC_000018.9:g.62017421_62017422dup, NC_000018.9:g.62017420_62017422dup, NC_000018.9:g.62017419_62017422dup, NC_000018.9:g.62017418_62017422dup, NC_000018.9:g.62017417_62017422dup, NC_000018.9:g.62017416_62017422dup, NC_000018.9:g.62017415_62017422dup, NC_000018.9:g.62017410_62017422dup
9.
rs1491496803 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 18:64222498
(GRCh38)
18:61889734
(GRCh37)
- Canonical SPDI:
- NC_000018.10:64222498:T:TT
- Gene:
- LINC01924 (Varview), LINC01538 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1491485647 has merged into rs11338483 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT
[Show Flanks]
- Chromosome:
- 18:64148417
(GRCh38)
18:61815651
(GRCh37)
- Canonical SPDI:
- NC_000018.10:64148407:TTTTTTTTTTTTT:TTTTTTTTT,NC_000018.10:64148407:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:64148407:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:64148407:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:64148407:TTTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- LINC00305 (Varview), LINC01924 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
TTT=0.289/87
(1000Genomes)
- HGVS:
12.
rs1491482713 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 18:64190663
(GRCh38)
18:61857898
(GRCh37)
- Canonical SPDI:
- NC_000018.10:64190662:TG:
- Gene:
- LINC01924 (Varview), LOC124904357 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
-=0.000065/1
(GnomAD)
- HGVS:
13.
rs1491474644 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 18:64409753
(GRCh38)
18:62076988
(GRCh37)
- Canonical SPDI:
- NC_000018.10:64409752:AT:
- Gene:
- LINC01924 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00002/1
(GnomAD)
-=0.00004/1
(TOMMO)
- HGVS:
14.
rs1491468706 has merged into rs1555680060 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 18:64343668
(GRCh38)
18:62010903
(GRCh37)
- Canonical SPDI:
- NC_000018.10:64343666:ATA:A,NC_000018.10:64343666:ATA:ATATA
- Gene:
- LINC01924 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATA=0./0
(
ALFA)
AT=0.00003/8
(TOPMED)
-=0.000546/1
(Korea1K)
-=0.025/1
(GENOME_DK)
- HGVS:
16.
rs1491441082 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCCTTTCCCTTTCCCTTTCCCTTTCCCTT,CCCTTTCCCTTTTCCTT,CCCTTTCCTTTCCTTTCCTT,CCTT,CCTTTCCCTTTCCTTTCCTTTCCTT,CCTTTCCTT,CCTTTCCTTTCCTT,CCTTTCCTTTCCTTTCCTT,CCTTTCCTTTCCTTTCCTTTCCTT,CCTTTCCTTTCCTTTCCTTTCCTTTCCTT,CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT,CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT,CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTT,CCTTTCCTTTCCTTTCCTTTCCTTTTCCTT,CCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTTCCTTTTCCTT,CCTTTCCTTTCCTTTCCTTTTCCTT,CCTTTCCTTTCCTTTTCCTT,CCTTTCCTTTCCTTTTCCTTTTCCTT,CCTTTCCTTTTCCTT,CTT
[Show Flanks]
- Chromosome:
- 18:64389511
(GRCh38)
18:62056747
(GRCh37)
- Canonical SPDI:
- NC_000018.10:64389511:TT:TTCCCTTTCCCTTTCCCTTTCCCTTTCCCTT,NC_000018.10:64389511:TT:TTCCCTTTCCCTTTTCCTT,NC_000018.10:64389511:TT:TTCCCTTTCCTTTCCTTTCCTT,NC_000018.10:64389511:TT:TTCCTT,NC_000018.10:64389511:TT:TTCCTTTCCCTTTCCTTTCCTTTCCTT,NC_000018.10:64389511:TT:TTCCTTTCCTT,NC_000018.10:64389511:TT:TTCCTTTCCTTTCCTT,NC_000018.10:64389511:TT:TTCCTTTCCTTTCCTTTCCTT,NC_000018.10:64389511:TT:TTCCTTTCCTTTCCTTTCCTTTCCTT,NC_000018.10:64389511:TT:TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT,NC_000018.10:64389511:TT:TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT,NC_000018.10:64389511:TT:TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT,NC_000018.10:64389511:TT:TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTT,NC_000018.10:64389511:TT:TTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTT,NC_000018.10:64389511:TT:TTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTTCCTTTTCCTT,NC_000018.10:64389511:TT:TTCCTTTCCTTTCCTTTCCTTTTCCTT,NC_000018.10:64389511:TT:TTCCTTTCCTTTCCTTTTCCTT,NC_000018.10:64389511:TT:TTCCTTTCCTTTCCTTTTCCTTTTCCTT,NC_000018.10:64389511:TT:TTCCTTTCCTTTTCCTT,NC_000018.10:64389511:TT:TTCTT
- Gene:
- LINC01924 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000018.10:g.64389512_64389513TTCCCT[5]T[1], NC_000018.10:g.64389512_64389513TTCCCT[2]TTTCCTT[1], NC_000018.10:g.64389513_64389514insCCCTTTCCTTTCCTTTCCTT, NC_000018.10:g.64389513_64389514insCCTT, NC_000018.10:g.64389513_64389514insCCTTTCCCTTTCCTTTCCTTTCCTT, NC_000018.10:g.64389512_64389513TTCCT[2]T[1], NC_000018.10:g.64389512_64389513TTCCT[3]T[1], NC_000018.10:g.64389512_64389513TTCCT[4]T[1], NC_000018.10:g.64389512_64389513TTCCT[5]T[1], NC_000018.10:g.64389512_64389513TTCCT[6]T[1], NC_000018.10:g.64389512_64389513TTCCT[7]T[1], NC_000018.10:g.64389512_64389513TTCCT[8]T[1], NC_000018.10:g.64389512_64389513TTCCT[6]TTTCCTT[1], NC_000018.10:g.64389512_64389513TTCCT[5]TTTCCTT[1], NC_000018.10:g.64389512_64389513TTCCT[5]TTTCCT[3]T[1], NC_000018.10:g.64389512_64389513TTCCT[4]TTTCCTT[1], NC_000018.10:g.64389512_64389513TTCCT[3]TTTCCTT[1], NC_000018.10:g.64389512_64389513TTCCT[3]TTTCCT[2]T[1], NC_000018.10:g.64389512_64389513TTCCT[2]TTTCCTT[1], NC_000018.10:g.64389513_64389514insCTT, NC_000018.9:g.62056747_62056748TTCCCT[5]T[1], NC_000018.9:g.62056747_62056748TTCCCT[2]TTTCCTT[1], NC_000018.9:g.62056748_62056749insCCCTTTCCTTTCCTTTCCTT, NC_000018.9:g.62056748_62056749insCCTT, NC_000018.9:g.62056748_62056749insCCTTTCCCTTTCCTTTCCTTTCCTT, NC_000018.9:g.62056747_62056748TTCCT[2]T[1], NC_000018.9:g.62056747_62056748TTCCT[3]T[1], NC_000018.9:g.62056747_62056748TTCCT[4]T[1], NC_000018.9:g.62056747_62056748TTCCT[5]T[1], NC_000018.9:g.62056747_62056748TTCCT[6]T[1], NC_000018.9:g.62056747_62056748TTCCT[7]T[1], NC_000018.9:g.62056747_62056748TTCCT[8]T[1], NC_000018.9:g.62056747_62056748TTCCT[6]TTTCCTT[1], NC_000018.9:g.62056747_62056748TTCCT[5]TTTCCTT[1], NC_000018.9:g.62056747_62056748TTCCT[5]TTTCCT[3]T[1], NC_000018.9:g.62056747_62056748TTCCT[4]TTTCCTT[1], NC_000018.9:g.62056747_62056748TTCCT[3]TTTCCTT[1], NC_000018.9:g.62056747_62056748TTCCT[3]TTTCCT[2]T[1], NC_000018.9:g.62056747_62056748TTCCT[2]TTTCCTT[1], NC_000018.9:g.62056748_62056749insCTT
17.
rs1491423852 has merged into rs34500058 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 18:64245821
(GRCh38)
18:61913056
(GRCh37)
- Canonical SPDI:
- NC_000018.10:64245805:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:64245805:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:64245805:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:64245805:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:64245805:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:64245805:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:64245805:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:64245805:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01924 (Varview), LINC01538 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.1129/435
(ALSPAC)
-=0.1141/423
(TWINSUK)
-=0.2202/1103
(1000Genomes)
- HGVS:
NC_000018.10:g.64245821_64245823del, NC_000018.10:g.64245822_64245823del, NC_000018.10:g.64245823del, NC_000018.10:g.64245823dup, NC_000018.10:g.64245822_64245823dup, NC_000018.10:g.64245821_64245823dup, NC_000018.10:g.64245820_64245823dup, NC_000018.10:g.64245819_64245823dup, NC_000018.9:g.61913056_61913058del, NC_000018.9:g.61913057_61913058del, NC_000018.9:g.61913058del, NC_000018.9:g.61913058dup, NC_000018.9:g.61913057_61913058dup, NC_000018.9:g.61913056_61913058dup, NC_000018.9:g.61913055_61913058dup, NC_000018.9:g.61913054_61913058dup
19.
rs1491375597 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTTTCTTTTCTTTTTTTTT
[Show Flanks]
- Chromosome:
- 18:64389636
(GRCh38)
18:62056872
(GRCh37)
- Canonical SPDI:
- NC_000018.10:64389636:CTTTTTTTTT:CTTTTTTTTTCTTTTCTTTTCTTTTTTTTT
- Gene:
- LINC01924 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTTTTTTTTTCTTTTCTTTTCTTTTTTTTT=0.00135/16
(
ALFA)
CTTTTTTTTTCTTTTCTTTT=0.00006/5
(GnomAD)
CTTTTTTTTTCTTTTCTTTT=0.00092/15
(TOMMO)
- HGVS:
20.
rs1491374232 has merged into rs57810761 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 18:64409765
(GRCh38)
18:62077000
(GRCh37)
- Canonical SPDI:
- NC_000018.10:64409753:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:64409753:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:64409753:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:64409753:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:64409753:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:64409753:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:64409753:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01924 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.1286/644
(1000Genomes)
-=0.1933/745
(ALSPAC)
- HGVS:
NC_000018.10:g.64409765_64409770del, NC_000018.10:g.64409766_64409770del, NC_000018.10:g.64409768_64409770del, NC_000018.10:g.64409769_64409770del, NC_000018.10:g.64409770del, NC_000018.10:g.64409770dup, NC_000018.10:g.64409769_64409770dup, NC_000018.9:g.62077000_62077005del, NC_000018.9:g.62077001_62077005del, NC_000018.9:g.62077003_62077005del, NC_000018.9:g.62077004_62077005del, NC_000018.9:g.62077005del, NC_000018.9:g.62077005dup, NC_000018.9:g.62077004_62077005dup