Links from Gene
Items: 1 to 20 of 2797
1.
rs1489133172 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 18:5244214
(GRCh38)
18:5244213
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5244213:T:C,NC_000018.10:5244213:T:G
- Gene:
- LINC00667 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489041807 has merged into rs10662496 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 18:5243311
(GRCh38)
18:5243310
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00667 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.3644/1825
(1000Genomes)
- HGVS:
NC_000018.10:g.5243311_5243317del, NC_000018.10:g.5243312_5243317del, NC_000018.10:g.5243313_5243317del, NC_000018.10:g.5243314_5243317del, NC_000018.10:g.5243315_5243317del, NC_000018.10:g.5243316_5243317del, NC_000018.10:g.5243317del, NC_000018.10:g.5243317dup, NC_000018.10:g.5243316_5243317dup, NC_000018.10:g.5243315_5243317dup, NC_000018.10:g.5243314_5243317dup, NC_000018.10:g.5243313_5243317dup, NC_000018.10:g.5243312_5243317dup, NC_000018.10:g.5243311_5243317dup, NC_000018.10:g.5243310_5243317dup, NC_000018.10:g.5243309_5243317dup, NC_000018.10:g.5243308_5243317dup, NC_000018.10:g.5243307_5243317dup, NC_000018.10:g.5243306_5243317dup, NC_000018.10:g.5243304_5243317dup, NC_000018.10:g.5243303_5243317dup, NC_000018.9:g.5243310_5243316del, NC_000018.9:g.5243311_5243316del, NC_000018.9:g.5243312_5243316del, NC_000018.9:g.5243313_5243316del, NC_000018.9:g.5243314_5243316del, NC_000018.9:g.5243315_5243316del, NC_000018.9:g.5243316del, NC_000018.9:g.5243316dup, NC_000018.9:g.5243315_5243316dup, NC_000018.9:g.5243314_5243316dup, NC_000018.9:g.5243313_5243316dup, NC_000018.9:g.5243312_5243316dup, NC_000018.9:g.5243311_5243316dup, NC_000018.9:g.5243310_5243316dup, NC_000018.9:g.5243309_5243316dup, NC_000018.9:g.5243308_5243316dup, NC_000018.9:g.5243307_5243316dup, NC_000018.9:g.5243306_5243316dup, NC_000018.9:g.5243305_5243316dup, NC_000018.9:g.5243303_5243316dup, NC_000018.9:g.5243302_5243316dup
3.
rs1489020996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 18:5243404
(GRCh38)
18:5243403
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5243403:G:C
- Gene:
- LINC00667 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488521954 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:5236258
(GRCh38)
18:5236257
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5236257:C:T
- Gene:
- LINC00526 (Varview), LINC00667 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000072/19
(TOPMED)
- HGVS:
6.
rs1488256411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:5238077
(GRCh38)
18:5238076
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5238076:C:T
- Gene:
- LINC00526 (Varview), LINC00667 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000049/13
(TOPMED)
T=0.00005/7
(GnomAD)
- HGVS:
7.
rs1487795608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 18:5238376
(GRCh38)
18:5238375
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5238375:C:A,NC_000018.10:5238375:C:G,NC_000018.10:5238375:C:T
- Gene:
- LINC00526 (Varview), LINC00667 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000016/2
(GnomAD_exomes)
T=0.000026/7
(TOPMED)
G=0.000239/4
(TOMMO)
- HGVS:
8.
rs1487574940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 18:5238433
(GRCh38)
18:5238432
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5238432:G:A,NC_000018.10:5238432:G:C,NC_000018.10:5238432:G:T
- Gene:
- LINC00526 (Varview), LINC00667 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
9.
rs1487527689 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:5244951
(GRCh38)
18:5244950
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5244950:A:G
- Gene:
- LINC00667 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000008/1
(GnomAD)
- HGVS:
10.
rs1487087618 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 18:5244033
(GRCh38)
18:5244033
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5244033:TTTTTT:TTTTTTT
- Gene:
- LINC00667 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1487061911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:5244099
(GRCh38)
18:5244098
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5244098:G:A
- Gene:
- LINC00667 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1486770803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 18:5241411
(GRCh38)
18:5241410
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5241410:T:A,NC_000018.10:5241410:T:C
- Gene:
- LINC00667 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1486758829 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 18:5244421
(GRCh38)
18:5244420
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5244420:C:G
- Gene:
- LINC00667 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1486615143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:5238396
(GRCh38)
18:5238395
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5238395:G:A
- Gene:
- LINC00526 (Varview), LINC00667 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1486290188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 18:5238642
(GRCh38)
18:5238641
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5238641:C:A
- Gene:
- LINC00526 (Varview), LINC00667 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1486173246 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCGCCGCCACCGGGAT
[Show Flanks]
- Chromosome:
- 18:5238032
(GRCh38)
18:5238032
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5238032:TCGCCGCCACCGGGAT:TCGCCGCCACCGGGATTCGCCGCCACCGGGAT
- Gene:
- LINC00526 (Varview), LINC00667 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TCGCCGCCACCGGGATTCGCCGCCACCGGGAT=0./0
(
ALFA)
TCGCCGCCACCGGGAT=0.000007/1
(GnomAD)
- HGVS:
17.
rs1486070314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:5238584
(GRCh38)
18:5238583
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5238583:G:A
- Gene:
- LINC00526 (Varview), LINC00667 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1485566849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 18:5245561
(GRCh38)
18:5245560
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5245560:G:T
- Gene:
- LINC00667 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1485371647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:5243751
(GRCh38)
18:5243750
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5243750:G:A
- Gene:
- LINC00667 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS: