Links from Gene
Items: 1 to 20 of 1000
1.
rs1491549184 has merged into rs1218247191 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:118936520
(GRCh38)
3:118655367
(GRCh37)
- Canonical SPDI:
- NC_000003.12:118936506:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:118936506:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:118936506:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:118936506:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:118936506:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:118936506:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:118936506:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.118936520_118936523del, NC_000003.12:g.118936521_118936523del, NC_000003.12:g.118936522_118936523del, NC_000003.12:g.118936523del, NC_000003.12:g.118936523dup, NC_000003.12:g.118936522_118936523dup, NC_000003.12:g.118936516_118936523dup, NC_000003.11:g.118655367_118655370del, NC_000003.11:g.118655368_118655370del, NC_000003.11:g.118655369_118655370del, NC_000003.11:g.118655370del, NC_000003.11:g.118655370dup, NC_000003.11:g.118655369_118655370dup, NC_000003.11:g.118655363_118655370dup
2.
rs1491533345 has merged into rs59894832 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:119094681
(GRCh38)
3:118813528
(GRCh37)
- Canonical SPDI:
- NC_000003.12:119094671:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:119094671:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:119094671:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:119094671:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:119094671:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:119094671:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:119094671:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:119094671:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119094671:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119094671:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.236022/1182
(1000Genomes)
- HGVS:
NC_000003.12:g.119094681_119094689del, NC_000003.12:g.119094686_119094689del, NC_000003.12:g.119094687_119094689del, NC_000003.12:g.119094688_119094689del, NC_000003.12:g.119094689del, NC_000003.12:g.119094689dup, NC_000003.12:g.119094688_119094689dup, NC_000003.12:g.119094687_119094689dup, NC_000003.12:g.119094685_119094689dup, NC_000003.12:g.119094681_119094689dup, NC_000003.11:g.118813528_118813536del, NC_000003.11:g.118813533_118813536del, NC_000003.11:g.118813534_118813536del, NC_000003.11:g.118813535_118813536del, NC_000003.11:g.118813536del, NC_000003.11:g.118813536dup, NC_000003.11:g.118813535_118813536dup, NC_000003.11:g.118813534_118813536dup, NC_000003.11:g.118813532_118813536dup, NC_000003.11:g.118813528_118813536dup
3.
rs1491519751 has merged into rs567222914 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:119017785
(GRCh38)
3:118736632
(GRCh37)
- Canonical SPDI:
- NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119017776:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.119017785_119017799del, NC_000003.12:g.119017787_119017799del, NC_000003.12:g.119017789_119017799del, NC_000003.12:g.119017790_119017799del, NC_000003.12:g.119017791_119017799del, NC_000003.12:g.119017792_119017799del, NC_000003.12:g.119017793_119017799del, NC_000003.12:g.119017794_119017799del, NC_000003.12:g.119017795_119017799del, NC_000003.12:g.119017796_119017799del, NC_000003.12:g.119017797_119017799del, NC_000003.12:g.119017798_119017799del, NC_000003.12:g.119017799del, NC_000003.12:g.119017799dup, NC_000003.12:g.119017798_119017799dup, NC_000003.12:g.119017797_119017799dup, NC_000003.12:g.119017796_119017799dup, NC_000003.12:g.119017795_119017799dup, NC_000003.12:g.119017794_119017799dup, NC_000003.12:g.119017793_119017799dup, NC_000003.12:g.119017792_119017799dup, NC_000003.12:g.119017790_119017799dup, NC_000003.12:g.119017789_119017799dup, NC_000003.12:g.119017777_119017799T[35]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.119017785_119017799dup, NC_000003.12:g.119017781_119017799dup, NC_000003.12:g.119017779_119017799dup, NC_000003.12:g.119017799_119017800insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.119017799_119017800insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.119017799_119017800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.118736632_118736646del, NC_000003.11:g.118736634_118736646del, NC_000003.11:g.118736636_118736646del, NC_000003.11:g.118736637_118736646del, NC_000003.11:g.118736638_118736646del, NC_000003.11:g.118736639_118736646del, NC_000003.11:g.118736640_118736646del, NC_000003.11:g.118736641_118736646del, NC_000003.11:g.118736642_118736646del, NC_000003.11:g.118736643_118736646del, NC_000003.11:g.118736644_118736646del, NC_000003.11:g.118736645_118736646del, NC_000003.11:g.118736646del, NC_000003.11:g.118736646dup, NC_000003.11:g.118736645_118736646dup, NC_000003.11:g.118736644_118736646dup, NC_000003.11:g.118736643_118736646dup, NC_000003.11:g.118736642_118736646dup, NC_000003.11:g.118736641_118736646dup, NC_000003.11:g.118736640_118736646dup, NC_000003.11:g.118736639_118736646dup, NC_000003.11:g.118736637_118736646dup, NC_000003.11:g.118736636_118736646dup, NC_000003.11:g.118736624_118736646T[35]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.118736632_118736646dup, NC_000003.11:g.118736628_118736646dup, NC_000003.11:g.118736626_118736646dup, NC_000003.11:g.118736646_118736647insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.118736646_118736647insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.118736646_118736647insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491495372 has merged into rs61410871 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:118949337
(GRCh38)
3:118668184
(GRCh37)
- Canonical SPDI:
- NC_000003.12:118949324:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:118949324:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:118949324:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:118949324:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:118949324:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:118949324:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:118949324:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:118949324:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:118949324:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:118949324:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:118949324:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:118949324:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:118949324:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3546/1776
(1000Genomes)
- HGVS:
NC_000003.12:g.118949337_118949344del, NC_000003.12:g.118949338_118949344del, NC_000003.12:g.118949339_118949344del, NC_000003.12:g.118949340_118949344del, NC_000003.12:g.118949341_118949344del, NC_000003.12:g.118949342_118949344del, NC_000003.12:g.118949343_118949344del, NC_000003.12:g.118949344del, NC_000003.12:g.118949344dup, NC_000003.12:g.118949343_118949344dup, NC_000003.12:g.118949342_118949344dup, NC_000003.12:g.118949341_118949344dup, NC_000003.12:g.118949336_118949344dup, NC_000003.11:g.118668184_118668191del, NC_000003.11:g.118668185_118668191del, NC_000003.11:g.118668186_118668191del, NC_000003.11:g.118668187_118668191del, NC_000003.11:g.118668188_118668191del, NC_000003.11:g.118668189_118668191del, NC_000003.11:g.118668190_118668191del, NC_000003.11:g.118668191del, NC_000003.11:g.118668191dup, NC_000003.11:g.118668190_118668191dup, NC_000003.11:g.118668189_118668191dup, NC_000003.11:g.118668188_118668191dup, NC_000003.11:g.118668183_118668191dup
5.
rs1491478470 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 3:118949324
(GRCh38)
3:118668171
(GRCh37)
- Canonical SPDI:
- NC_000003.12:118949323:GA:
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000028/1
(GnomAD)
-=0.000549/1
(Korea1K)
- HGVS:
6.
rs1491458418 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 3:119009567
(GRCh38)
3:118728414
(GRCh37)
- Canonical SPDI:
- NC_000003.12:119009564:TATA:TA
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491453835 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,C
[Show Flanks]
- Chromosome:
- 3:119091994
(GRCh38)
3:118810842
(GRCh37)
- Canonical SPDI:
- NC_000003.12:119091994::A,NC_000003.12:119091994::C
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
10.
rs1491434560 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 3:118909236
(GRCh38)
3:118628083
(GRCh37)
- Canonical SPDI:
- NC_000003.12:118909230:TATATAT:TATAT,NC_000003.12:118909230:TATATAT:TATATATAT
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATAT=0./0
(
ALFA)
TA=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
11.
rs1491353894 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 3:119083140
(GRCh38)
3:118801988
(GRCh37)
- Canonical SPDI:
- NC_000003.12:119083140::C
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1491297058 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 3:119064512
(GRCh38)
3:118783360
(GRCh37)
- Canonical SPDI:
- NC_000003.12:119064512::C
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000018/1
(GnomAD)
- HGVS:
13.
rs1491294473 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TA,TAA,TAAAAAA,TAAAAAAA,TAAAAAAAA,TAAAAAAAAA,TAAAAAAAAAA,TAAAAAAAAAAA,TAAAAAAAAAAAA,TAAAAAAAAAAAAA,TAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:119094223
(GRCh38)
3:118813071
(GRCh37)
- Canonical SPDI:
- NC_000003.12:119094223::TA,NC_000003.12:119094223::TAA,NC_000003.12:119094223::TAAAAAA,NC_000003.12:119094223::TAAAAAAA,NC_000003.12:119094223::TAAAAAAAA,NC_000003.12:119094223::TAAAAAAAAA,NC_000003.12:119094223::TAAAAAAAAAA,NC_000003.12:119094223::TAAAAAAAAAAA,NC_000003.12:119094223::TAAAAAAAAAAAA,NC_000003.12:119094223::TAAAAAAAAAAAAA,NC_000003.12:119094223::TAAAAAAAAAAAAAA,NC_000003.12:119094223::TAAAAAAAAAAAAAAA,NC_000003.12:119094223::TAAAAAAAAAAAAAAAA,NC_000003.12:119094223::TAAAAAAAAAAAAAAAAA,NC_000003.12:119094223::TAAAAAAAAAAAAAAAAAA,NC_000003.12:119094223::TAAAAAAAAAAAAAAAAAAA,NC_000003.12:119094223::TAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119094223::TAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:119094223::TAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.119094223_119094224insTA, NC_000003.12:g.119094223_119094224insTAA, NC_000003.12:g.119094223_119094224insTAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAAAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAAAAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAAAAAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAAAAAAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAAAAAAAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAAAAAAAAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.119094223_119094224insTAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.118813070_118813071insTA, NC_000003.11:g.118813070_118813071insTAA, NC_000003.11:g.118813070_118813071insTAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAAAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAAAAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAAAAAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAAAAAAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAAAAAAAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAAAAAAAAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.118813070_118813071insTAAAAAAAAAAAAAAAAAAAAAAAAAAA
14.
rs1491292396 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 3:119068928
(GRCh38)
3:118787776
(GRCh37)
- Canonical SPDI:
- NC_000003.12:119068928::C
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.09847/1168
(
ALFA)
C=0.18779/3001
(TOMMO)
- HGVS:
15.
rs1491266528 has merged into rs374776493 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:118940922
(GRCh38)
3:118659769
(GRCh37)
- Canonical SPDI:
- NC_000003.12:118940908:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:118940908:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:118940908:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:118940908:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:118940908:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:118940908:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:118940908:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:118940908:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:118940908:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3818/1912
(1000Genomes)
- HGVS:
NC_000003.12:g.118940922_118940925del, NC_000003.12:g.118940923_118940925del, NC_000003.12:g.118940924_118940925del, NC_000003.12:g.118940925del, NC_000003.12:g.118940925dup, NC_000003.12:g.118940924_118940925dup, NC_000003.12:g.118940923_118940925dup, NC_000003.12:g.118940922_118940925dup, NC_000003.12:g.118940917_118940925dup, NC_000003.11:g.118659769_118659772del, NC_000003.11:g.118659770_118659772del, NC_000003.11:g.118659771_118659772del, NC_000003.11:g.118659772del, NC_000003.11:g.118659772dup, NC_000003.11:g.118659771_118659772dup, NC_000003.11:g.118659770_118659772dup, NC_000003.11:g.118659769_118659772dup, NC_000003.11:g.118659764_118659772dup
16.
rs1491263188 has merged into rs779910295 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TT,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:119064521
(GRCh38)
3:118783368
(GRCh37)
- Canonical SPDI:
- NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:119064511:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.119064521_119064533del, NC_000003.12:g.119064523_119064533del, NC_000003.12:g.119064524_119064533del, NC_000003.12:g.119064527_119064533del, NC_000003.12:g.119064528_119064533del, NC_000003.12:g.119064529_119064533del, NC_000003.12:g.119064530_119064533del, NC_000003.12:g.119064531_119064533del, NC_000003.12:g.119064532_119064533del, NC_000003.12:g.119064533del, NC_000003.12:g.119064533dup, NC_000003.12:g.119064532_119064533dup, NC_000003.12:g.119064531_119064533dup, NC_000003.12:g.119064530_119064533dup, NC_000003.12:g.119064529_119064533dup, NC_000003.12:g.119064528_119064533dup, NC_000003.12:g.119064526_119064533dup, NC_000003.12:g.119064524_119064533dup, NC_000003.12:g.119064522_119064533dup, NC_000003.12:g.119064513_119064533dup, NC_000003.12:g.119064533_119064534insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.119064533_119064534insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.118783368_118783380del, NC_000003.11:g.118783370_118783380del, NC_000003.11:g.118783371_118783380del, NC_000003.11:g.118783374_118783380del, NC_000003.11:g.118783375_118783380del, NC_000003.11:g.118783376_118783380del, NC_000003.11:g.118783377_118783380del, NC_000003.11:g.118783378_118783380del, NC_000003.11:g.118783379_118783380del, NC_000003.11:g.118783380del, NC_000003.11:g.118783380dup, NC_000003.11:g.118783379_118783380dup, NC_000003.11:g.118783378_118783380dup, NC_000003.11:g.118783377_118783380dup, NC_000003.11:g.118783376_118783380dup, NC_000003.11:g.118783375_118783380dup, NC_000003.11:g.118783373_118783380dup, NC_000003.11:g.118783371_118783380dup, NC_000003.11:g.118783369_118783380dup, NC_000003.11:g.118783360_118783380dup, NC_000003.11:g.118783380_118783381insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.118783380_118783381insTTTTTTTTTTTTTTTTTTTTTTTTT
18.
rs1491244925 has merged into rs1553754813 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 3:118933487
(GRCh38)
3:118652334
(GRCh37)
- Canonical SPDI:
- NC_000003.12:118933470:TATATATATATATATATATA:TATATATATATATATA,NC_000003.12:118933470:TATATATATATATATATATA:TATATATATATATATATA,NC_000003.12:118933470:TATATATATATATATATATA:TATATATATATATATATATATA,NC_000003.12:118933470:TATATATATATATATATATA:TATATATATATATATATATATATA,NC_000003.12:118933470:TATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000003.12:118933470:TATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000003.12:118933470:TATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000003.12:118933470:TATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000003.12:118933470:TATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000003.12:118933470:TATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000003.12:118933470:TATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000003.12:118933470:TATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000003.12:118933470:TATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:118933470:TATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATATATA=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.118933471TA[8], NC_000003.12:g.118933471TA[9], NC_000003.12:g.118933471TA[11], NC_000003.12:g.118933471TA[12], NC_000003.12:g.118933471TA[13], NC_000003.12:g.118933471TA[14], NC_000003.12:g.118933471TA[15], NC_000003.12:g.118933471TA[16], NC_000003.12:g.118933471TA[17], NC_000003.12:g.118933471TA[18], NC_000003.12:g.118933471TA[19], NC_000003.12:g.118933471TA[20], NC_000003.12:g.118933471TA[21], NC_000003.12:g.118933471TA[22], NC_000003.11:g.118652318TA[8], NC_000003.11:g.118652318TA[9], NC_000003.11:g.118652318TA[11], NC_000003.11:g.118652318TA[12], NC_000003.11:g.118652318TA[13], NC_000003.11:g.118652318TA[14], NC_000003.11:g.118652318TA[15], NC_000003.11:g.118652318TA[16], NC_000003.11:g.118652318TA[17], NC_000003.11:g.118652318TA[18], NC_000003.11:g.118652318TA[19], NC_000003.11:g.118652318TA[20], NC_000003.11:g.118652318TA[21], NC_000003.11:g.118652318TA[22]
20.
rs1491138227 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 3:119094689
(GRCh38)
3:118813537
(GRCh37)
- Canonical SPDI:
- NC_000003.12:119094689::G
- Gene:
- IGSF11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: