Links from Gene
Items: 1 to 20 of 1388
1.
rs1491454315 has merged into rs11424825 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:82715068
(GRCh38)
17:80672944
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82715054:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.1853/928
(1000Genomes)
- HGVS:
NC_000017.11:g.82715068_82715072del, NC_000017.11:g.82715069_82715072del, NC_000017.11:g.82715070_82715072del, NC_000017.11:g.82715071_82715072del, NC_000017.11:g.82715072del, NC_000017.11:g.82715072dup, NC_000017.11:g.82715071_82715072dup, NC_000017.11:g.82715070_82715072dup, NC_000017.11:g.82715069_82715072dup, NC_000017.11:g.82715066_82715072dup, NC_000017.11:g.82715064_82715072dup, NC_000017.10:g.80672944_80672948del, NC_000017.10:g.80672945_80672948del, NC_000017.10:g.80672946_80672948del, NC_000017.10:g.80672947_80672948del, NC_000017.10:g.80672948del, NC_000017.10:g.80672948dup, NC_000017.10:g.80672947_80672948dup, NC_000017.10:g.80672946_80672948dup, NC_000017.10:g.80672945_80672948dup, NC_000017.10:g.80672942_80672948dup, NC_000017.10:g.80672940_80672948dup
2.
rs1491137806 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:82715054
(GRCh38)
17:80672930
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82715053:CA:
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00067/8
(
ALFA)
-=0.00042/4
(GnomAD)
- HGVS:
3.
rs1490970808 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:82715452
(GRCh38)
17:80673328
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82715451:C:G,NC_000017.11:82715451:C:T
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490864125 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:82718236
(GRCh38)
17:80676112
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82718235:C:T
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00171/28
(
ALFA)
T=0.00043/7
(TOMMO)
T=0.00078/5
(1000Genomes)
T=0.00164/3
(Korea1K)
T=0.00625/28
(Estonian)
T=0.01095/32
(KOREAN)
- HGVS:
5.
rs1490653444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 17:82716764
(GRCh38)
17:80674640
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82716763:G:A,NC_000017.11:82716763:G:T
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000017.11:g.82716764G>A, NC_000017.11:g.82716764G>T, NC_000017.10:g.80674640G>A, NC_000017.10:g.80674640G>T, NM_024619.4:c.9G>A, NM_024619.4:c.9G>T, NM_024619.3:c.9G>A, NM_024619.3:c.9G>T, NR_046408.2:n.59G>A, NR_046408.2:n.59G>T, NR_046408.1:n.59G>A, NR_046408.1:n.59G>T, NP_078895.2:p.Glu3Asp
6.
rs1490481177 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82715924
(GRCh38)
17:80673800
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82715923:G:A
- Gene:
- FN3KRP (Varview), LOC101929552 (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=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
7.
rs1490377162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:82717445
(GRCh38)
17:80675321
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82717444:C:T
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
8.
rs1489549560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:82713768
(GRCh38)
17:80671644
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82713767:C:G,NC_000017.11:82713767:C:T
- Gene:
- LOC101929552 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1488635055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:82714079
(GRCh38)
17:80671955
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82714078:A:G
- Gene:
- LOC101929552 (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=0.000007/1
(GnomAD)
- HGVS:
11.
rs1487233348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:82714393
(GRCh38)
17:80672269
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82714392:G:A,NC_000017.11:82714392:G:C
- Gene:
- LOC101929552 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000008/1
(GnomAD)
- HGVS:
12.
rs1487119345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82718091
(GRCh38)
17:80675967
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82718090:G:A
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1486654765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:82717805
(GRCh38)
17:80675681
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82717804:C:T
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
14.
rs1485750445 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTCTGTATATGTTGTGTGTGTGTGTT>-
[Show Flanks]
- Chromosome:
- 17:82718159
(GRCh38)
17:80676035
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82718146:TGTGTGTGTGTTGTGTGTCTGTATATGTTGTGTGTGTGTGTT:TGTGTGTGTGTT
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTGTGTGTT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
15.
rs1485488738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82717799
(GRCh38)
17:80675675
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82717798:G:A
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1485151075 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 17:82718203
(GRCh38)
17:80676079
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82718195:TGTGTGTGT:TGTGTGT,NC_000017.11:82718195:TGTGTGTGT:TGTGTGTGTGT
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTGTGTGT=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
18.
rs1485099428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:82717441
(GRCh38)
17:80675317
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82717440:C:G,NC_000017.11:82717440:C:T
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1484884792 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 17:82713712
(GRCh38)
17:80671588
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82713711:G:A,NC_000017.11:82713711:G:T
- Gene:
- LOC101929552 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000972/18
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000135/19
(GnomAD)
A=0.004241/19
(Estonian)
- HGVS:
20.
rs1484223531 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82715563
(GRCh38)
17:80673439
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82715562:G:A
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000029/4
(GnomAD)
A=0.000546/1
(Korea1K)
- HGVS: