Links from Gene
Items: 1 to 20 of 1789
1.
rs1491571704 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 22:46044308
(GRCh38)
22:46440189
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46044308::T
- Gene:
- LINC00899 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
2.
rs1491500702 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 22:46044309
(GRCh38)
22:46440189
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46044307:CCC:C
- Gene:
- LINC00899 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000014/2
(GnomAD)
- HGVS:
3.
rs1491458467 has merged into rs34570633 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 22:46042511
(GRCh38)
22:46438391
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00899 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000022.11:g.46042511_46042524del, NC_000022.11:g.46042512_46042524del, NC_000022.11:g.46042513_46042524del, NC_000022.11:g.46042514_46042524del, NC_000022.11:g.46042515_46042524del, NC_000022.11:g.46042516_46042524del, NC_000022.11:g.46042517_46042524del, NC_000022.11:g.46042518_46042524del, NC_000022.11:g.46042519_46042524del, NC_000022.11:g.46042520_46042524del, NC_000022.11:g.46042521_46042524del, NC_000022.11:g.46042522_46042524del, NC_000022.11:g.46042523_46042524del, NC_000022.11:g.46042524del, NC_000022.11:g.46042524dup, NC_000022.11:g.46042523_46042524dup, NC_000022.11:g.46042522_46042524dup, NC_000022.11:g.46042521_46042524dup, NC_000022.11:g.46042520_46042524dup, NC_000022.11:g.46042519_46042524dup, NC_000022.11:g.46042518_46042524dup, NC_000022.11:g.46042517_46042524dup, NC_000022.11:g.46042516_46042524dup, NC_000022.11:g.46042515_46042524dup, NC_000022.11:g.46042514_46042524dup, NC_000022.11:g.46042507_46042524dup, NC_000022.11:g.46042504_46042524dup, NC_000022.11:g.46042502_46042524dup, NC_000022.11:g.46042524_46042525insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.46042502_46042524A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000022.10:g.46438391_46438404del, NC_000022.10:g.46438392_46438404del, NC_000022.10:g.46438393_46438404del, NC_000022.10:g.46438394_46438404del, NC_000022.10:g.46438395_46438404del, NC_000022.10:g.46438396_46438404del, NC_000022.10:g.46438397_46438404del, NC_000022.10:g.46438398_46438404del, NC_000022.10:g.46438399_46438404del, NC_000022.10:g.46438400_46438404del, NC_000022.10:g.46438401_46438404del, NC_000022.10:g.46438402_46438404del, NC_000022.10:g.46438403_46438404del, NC_000022.10:g.46438404del, NC_000022.10:g.46438404dup, NC_000022.10:g.46438403_46438404dup, NC_000022.10:g.46438402_46438404dup, NC_000022.10:g.46438401_46438404dup, NC_000022.10:g.46438400_46438404dup, NC_000022.10:g.46438399_46438404dup, NC_000022.10:g.46438398_46438404dup, NC_000022.10:g.46438397_46438404dup, NC_000022.10:g.46438396_46438404dup, NC_000022.10:g.46438395_46438404dup, NC_000022.10:g.46438394_46438404dup, NC_000022.10:g.46438387_46438404dup, NC_000022.10:g.46438384_46438404dup, NC_000022.10:g.46438382_46438404dup, NC_000022.10:g.46438404_46438405insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.46438382_46438404A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
6.
rs1490225370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:46045727
(GRCh38)
22:46441607
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46045726:A:G
- Gene:
- LINC00899 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489806935 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGTTT>-
[Show Flanks]
- Chromosome:
- 22:46040262
(GRCh38)
22:46436142
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46040259:TTAGTTT:TT
- Gene:
- LINC00899 (Varview), LOC124905136 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
8.
rs1489180031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46039414
(GRCh38)
22:46435294
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46039413:G:A
- Gene:
- LINC00899 (Varview), LOC124905136 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488732523 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAA>-
[Show Flanks]
- Chromosome:
- 22:46042548
(GRCh38)
22:46438428
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46042545:AAGAA:AA
- Gene:
- LINC00899 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
10.
rs1488669497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 22:46044940
(GRCh38)
22:46440820
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46044939:C:A,NC_000022.11:46044939:C:G,NC_000022.11:46044939:C:T
- Gene:
- LINC00899 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.00016/1
(1000Genomes)
- HGVS:
12.
rs1488336659 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 22:46043955
(GRCh38)
22:46439835
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46043954:A:C
- Gene:
- LINC00899 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000071/10
(GnomAD)
- HGVS:
13.
rs1487910249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:46040145
(GRCh38)
22:46436025
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46040144:T:C
- Gene:
- LINC00899 (Varview), LOC124905136 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000156/1
(1000Genomes)
- HGVS:
14.
rs1487575380 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AACAAA>-
[Show Flanks]
- Chromosome:
- 22:46040432
(GRCh38)
22:46436312
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46040428:AAAAACAAA:AAA
- Gene:
- LINC00899 (Varview), LOC124905136 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000546/1
(Korea1K)
- HGVS:
16.
rs1486582857 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:46043040
(GRCh38)
22:46438920
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46043039:A:G
- Gene:
- LINC00899 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1486231994 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 22:46042965
(GRCh38)
22:46438845
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46042964:G:A,NC_000022.11:46042964:G:C
- Gene:
- LINC00899 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
19.
rs1485911614 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 22:46041418
(GRCh38)
22:46437298
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46041417:T:G
- Gene:
- LINC00899 (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: