Links from Gene
Items: 1 to 20 of 14934
1.
rs1491531984 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 1:204652279
(GRCh38)
1:204621407
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204652277:CGC:C
- Gene:
- LRRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00079/13
(TOMMO)
- HGVS:
2.
rs1491464491 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AC
[Show Flanks]
- Chromosome:
- 1:204676173
(GRCh38)
1:204645302
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204676173:AC:ACAC
- Gene:
- LRRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACAC=0./0
(
ALFA)
AC=0.000015/2
(GnomAD)
- HGVS:
3.
rs1491463383 has merged into rs1042438499 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT,TTT
[Show Flanks]
- Chromosome:
- 1:204670007
(GRCh38)
1:204639135
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204670006:TTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:204670006:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:204670006:TTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- LRRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0.00007/1
(
ALFA)
T=0.00136/20
(TOMMO)
-=0.00248/4
(Korea1K)
- HGVS:
4.
rs1491403228 has merged into rs11284966 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:204647167
(GRCh38)
1:204616295
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LRRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.1048/525
(1000Genomes)
-=0.1663/641
(ALSPAC)
- HGVS:
NC_000001.11:g.204647167_204647171del, NC_000001.11:g.204647168_204647171del, NC_000001.11:g.204647169_204647171del, NC_000001.11:g.204647170_204647171del, NC_000001.11:g.204647171del, NC_000001.11:g.204647171dup, NC_000001.11:g.204647159_204647171dup, NC_000001.11:g.204647171_204647172insAAAAAAAAAAAAAAAAA, NC_000001.10:g.204616295_204616299del, NC_000001.10:g.204616296_204616299del, NC_000001.10:g.204616297_204616299del, NC_000001.10:g.204616298_204616299del, NC_000001.10:g.204616299del, NC_000001.10:g.204616299dup, NC_000001.10:g.204616287_204616299dup, NC_000001.10:g.204616299_204616300insAAAAAAAAAAAAAAAAA
6.
rs1491397399 has merged into rs879629462 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT
[Show Flanks]
- Chromosome:
- 1:204671403
(GRCh38)
1:204640531
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204671401:TTT:T,NC_000001.11:204671401:TTT:TTTT
- Gene:
- LRRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.01644/195
(
ALFA)
-=0.0033/55
(TOMMO)
-=0.01638/30
(Korea1K)
-=0.02389/2040
(GnomAD)
- HGVS:
7.
rs1491339319 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 1:204671395
(GRCh38)
1:204640523
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204671393:TTT:T
- Gene:
- LRRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
-=0.002697/353
(GnomAD)
- HGVS:
8.
rs1491326191 has merged into rs79698374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATA>-,TA,TATATA
[Show Flanks]
- Chromosome:
- 1:204657339
(GRCh38)
1:204626467
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204657334:TATATATA:TATA,NC_000001.11:204657334:TATATATA:TATATA,NC_000001.11:204657334:TATATATA:TATATATATA
- Gene:
- LRRN2 (Varview), LOC124904490 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATA=0./0
(
ALFA)
-=0.00014/4
(TOMMO)
TA=0.00045/2
(Estonian)
- HGVS:
9.
rs1491297668 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 1:204624252
(GRCh38)
1:204593380
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204624251:CC:
- Gene:
- LRRN2 (Varview), LOC105371692 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
13.
rs1491177041 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCCCAGCC
[Show Flanks]
- Chromosome:
- 1:204652278
(GRCh38)
1:204621407
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204652278:GCC:GCCCCCCAGCC
- Gene:
- LRRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCCCCCCAGCC=0./0
(
ALFA)
GCCCCCCA=0.000036/1
(TOMMO)
GCCCCCCA=0.00004/5
(GnomAD)
- HGVS:
14.
rs1491153204 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 1:204624252
(GRCh38)
1:204593381
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204624252:CT:CTCT
- Gene:
- LRRN2 (Varview), LOC105371692 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0./0
(
ALFA)
CT=0.000007/1
(GnomAD)
CT=0.000015/4
(TOPMED)
- HGVS:
16.
rs1491078163 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 1:204659639
(GRCh38)
1:204628768
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204659639:GA:GAGA
- Gene:
- LRRN2 (Varview), LOC124904490 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GAGA=0./0
(
ALFA)
GA=0.000015/2
(GnomAD)
- HGVS:
17.
rs1491068494 has merged into rs34779515 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 1:204657356
(GRCh38)
1:204626484
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- LRRN2 (Varview), LOC124904490 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACAC=0./0
(
ALFA)
-=0.4493/1666
(TWINSUK)
-=0.4642/1789
(ALSPAC)
- HGVS:
NC_000001.11:g.204657342AC[7], NC_000001.11:g.204657342AC[9], NC_000001.11:g.204657342AC[10], NC_000001.11:g.204657342AC[11], NC_000001.11:g.204657342AC[12], NC_000001.11:g.204657342AC[14], NC_000001.11:g.204657342AC[15], NC_000001.11:g.204657342AC[16], NC_000001.11:g.204657342AC[17], NC_000001.11:g.204657342AC[18], NC_000001.11:g.204657342AC[19], NC_000001.11:g.204657342AC[20], NC_000001.11:g.204657342AC[21], NC_000001.11:g.204657342AC[22], NC_000001.11:g.204657342AC[23], NC_000001.11:g.204657342AC[24], NC_000001.11:g.204657342AC[25], NC_000001.11:g.204657342AC[26], NC_000001.10:g.204626470AC[7], NC_000001.10:g.204626470AC[9], NC_000001.10:g.204626470AC[10], NC_000001.10:g.204626470AC[11], NC_000001.10:g.204626470AC[12], NC_000001.10:g.204626470AC[14], NC_000001.10:g.204626470AC[15], NC_000001.10:g.204626470AC[16], NC_000001.10:g.204626470AC[17], NC_000001.10:g.204626470AC[18], NC_000001.10:g.204626470AC[19], NC_000001.10:g.204626470AC[20], NC_000001.10:g.204626470AC[21], NC_000001.10:g.204626470AC[22], NC_000001.10:g.204626470AC[23], NC_000001.10:g.204626470AC[24], NC_000001.10:g.204626470AC[25], NC_000001.10:g.204626470AC[26]
18.
rs1490997564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:204680731
(GRCh38)
1:204649859
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204680730:G:C
- Gene:
- LRRN2 (Varview)
- Functional Consequence:
- 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:
19.
rs1490987589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:204680572
(GRCh38)
1:204649700
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204680571:A:T
- Gene:
- LRRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490927839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:204624085
(GRCh38)
1:204593213
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204624084:T:G
- Gene:
- LRRN2 (Varview), LOC105371692 (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: