Links from Gene
Items: 1 to 20 of 1000
1.
rs1491536307 has merged into rs35866007 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCGCGCGCGCGC>-,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGC
[Show Flanks]
- Chromosome:
- 11:58579070
(GRCh38)
11:58346543
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58579065:GCGCGCGCGCGCGCGC:GCGC,NC_000011.10:58579065:GCGCGCGCGCGCGCGC:GCGCGCGC,NC_000011.10:58579065:GCGCGCGCGCGCGCGC:GCGCGCGCGC,NC_000011.10:58579065:GCGCGCGCGCGCGCGC:GCGCGCGCGCGC,NC_000011.10:58579065:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGC,NC_000011.10:58579065:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGC,NC_000011.10:58579065:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGC,NC_000011.10:58579065:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGC,NC_000011.10:58579065:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGC
- Gene:
- LPXN (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGC=0./0
(
ALFA)
GC=0.21945/1099
(1000Genomes)
GC=0.3/12
(GENOME_DK)
- HGVS:
NC_000011.10:g.58579066GC[2], NC_000011.10:g.58579066GC[4], NC_000011.10:g.58579066GC[5], NC_000011.10:g.58579066GC[6], NC_000011.10:g.58579066GC[7], NC_000011.10:g.58579066GC[9], NC_000011.10:g.58579066GC[10], NC_000011.10:g.58579066GC[11], NC_000011.10:g.58579066GC[12], NC_000011.9:g.58346539GC[2], NC_000011.9:g.58346539GC[4], NC_000011.9:g.58346539GC[5], NC_000011.9:g.58346539GC[6], NC_000011.9:g.58346539GC[7], NC_000011.9:g.58346539GC[9], NC_000011.9:g.58346539GC[10], NC_000011.9:g.58346539GC[11], NC_000011.9:g.58346539GC[12], NM_053023.5:c.-216GC[2], NM_053023.5:c.-216GC[4], NM_053023.5:c.-216GC[5], NM_053023.5:c.-216GC[6], NM_053023.5:c.-216GC[7], NM_053023.5:c.-216GC[9], NM_053023.5:c.-216GC[10], NM_053023.5:c.-216GC[11], NM_053023.5:c.-216GC[12], NM_001197051.2:c.-216GC[2], NM_001197051.2:c.-216GC[4], NM_001197051.2:c.-216GC[5], NM_001197051.2:c.-216GC[6], NM_001197051.2:c.-216GC[7], NM_001197051.2:c.-216GC[9], NM_001197051.2:c.-216GC[10], NM_001197051.2:c.-216GC[11], NM_001197051.2:c.-216GC[12]
2.
rs1491505330 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 11:58555792
(GRCh38)
11:58323265
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58555790:CGC:C
- Gene:
- LPXN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000015/2
(GnomAD)
-=0.000142/2
(TOMMO)
-=0.092772/344
(TWINSUK)
-=0.096004/370
(ALSPAC)
- HGVS:
3.
rs1491391824 has merged into rs59534059 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:58573255
(GRCh38)
11:58340728
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58573246:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:58573246:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:58573246:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:58573246:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:58573246:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:58573246:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:58573246:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:58573246:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:58573246:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:58573246:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:58573246:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:58573246:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:58573246:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LPXN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.1816/700
(ALSPAC)
-=0.1839/682
(TWINSUK)
-=0.225/9
(GENOME_DK)
- HGVS:
NC_000011.10:g.58573255_58573261del, NC_000011.10:g.58573257_58573261del, NC_000011.10:g.58573258_58573261del, NC_000011.10:g.58573259_58573261del, NC_000011.10:g.58573260_58573261del, NC_000011.10:g.58573261del, NC_000011.10:g.58573261dup, NC_000011.10:g.58573260_58573261dup, NC_000011.10:g.58573259_58573261dup, NC_000011.10:g.58573258_58573261dup, NC_000011.10:g.58573257_58573261dup, NC_000011.10:g.58573256_58573261dup, NC_000011.10:g.58573252_58573261dup, NC_000011.9:g.58340728_58340734del, NC_000011.9:g.58340730_58340734del, NC_000011.9:g.58340731_58340734del, NC_000011.9:g.58340732_58340734del, NC_000011.9:g.58340733_58340734del, NC_000011.9:g.58340734del, NC_000011.9:g.58340734dup, NC_000011.9:g.58340733_58340734dup, NC_000011.9:g.58340732_58340734dup, NC_000011.9:g.58340731_58340734dup, NC_000011.9:g.58340730_58340734dup, NC_000011.9:g.58340729_58340734dup, NC_000011.9:g.58340725_58340734dup
4.
rs1491329271 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCGC,CGC
[Show Flanks]
- Chromosome:
- 11:58579066
(GRCh38)
11:58346540
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58579066:CGC:CGCCCGC,NC_000011.10:58579066:CGC:CGCCGC
- Gene:
- LPXN (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGCCCGC=0./0
(
ALFA)
CGCC=0.00003/2
(GnomAD)
- HGVS:
5.
rs1491237398 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 11:58573246
(GRCh38)
11:58340719
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58573245:CA:
- Gene:
- LPXN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00025/3
(
ALFA)
-=0.0011/2
(Korea1K)
- HGVS:
6.
rs1491056430 has merged into rs35629114 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:58553347
(GRCh38)
11:58320820
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58553335:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:58553335:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:58553335:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:58553335:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:58553335:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:58553335:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:58553335:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:58553335:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:58553335:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:58553335:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:58553335:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:58553335:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LPXN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000011.10:g.58553347_58553356del, NC_000011.10:g.58553348_58553356del, NC_000011.10:g.58553350_58553356del, NC_000011.10:g.58553352_58553356del, NC_000011.10:g.58553354_58553356del, NC_000011.10:g.58553355_58553356del, NC_000011.10:g.58553356del, NC_000011.10:g.58553356dup, NC_000011.10:g.58553355_58553356dup, NC_000011.10:g.58553354_58553356dup, NC_000011.10:g.58553353_58553356dup, NC_000011.10:g.58553352_58553356dup, NC_000011.9:g.58320820_58320829del, NC_000011.9:g.58320821_58320829del, NC_000011.9:g.58320823_58320829del, NC_000011.9:g.58320825_58320829del, NC_000011.9:g.58320827_58320829del, NC_000011.9:g.58320828_58320829del, NC_000011.9:g.58320829del, NC_000011.9:g.58320829dup, NC_000011.9:g.58320828_58320829dup, NC_000011.9:g.58320827_58320829dup, NC_000011.9:g.58320826_58320829dup, NC_000011.9:g.58320825_58320829dup
7.
rs1490954269 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:58542764
(GRCh38)
11:58310237
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58542763:C:T
- Gene:
- LPXN (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490909489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:58575515
(GRCh38)
11:58342988
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58575514:A:C
- Gene:
- LPXN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
10.
rs1490715291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:58541881
(GRCh38)
11:58309354
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58541880:T:C
- Gene:
- LPXN (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490585435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:58550572
(GRCh38)
11:58318045
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58550571:G:A
- Gene:
- LPXN (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490527643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:58566285
(GRCh38)
11:58333758
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58566284:T:C
- Gene:
- LPXN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490419875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:58575001
(GRCh38)
11:58342474
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58575000:A:T
- Gene:
- LPXN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490225700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:58541415
(GRCh38)
11:58308888
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58541414:T:C
- Gene:
- LPXN (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
16.
rs1490199840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:58540399
(GRCh38)
11:58307872
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58540398:T:C
- Gene:
- LPXN (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,splice_acceptor_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490186491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:58533409
(GRCh38)
11:58300882
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58533408:T:C
- Gene:
- LPXN (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490034087 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:58565773
(GRCh38)
11:58333246
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58565772:A:G
- Gene:
- LPXN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1489974159 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:58545437
(GRCh38)
11:58312910
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58545436:A:C
- Gene:
- LPXN (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS: