Links from Gene
Items: 1 to 20 of 14619
1.
rs1491582738 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G,T
[Show Flanks]
- Chromosome:
- 22:18986444
(GRCh38)
22:18973958
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18986444::G,NC_000022.11:18986444::T
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
2.
rs1491495720 has merged into rs11357670 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 22:18985675
(GRCh38)
22:18973188
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18985661:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:18985661:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:18985661:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:18985661:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:18985661:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:18985661:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:18985661:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:18985661:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:18985661:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:18985661:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:18985661:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.3972/1989
(1000Genomes)
- HGVS:
NC_000022.11:g.18985675_18985681del, NC_000022.11:g.18985676_18985681del, NC_000022.11:g.18985677_18985681del, NC_000022.11:g.18985678_18985681del, NC_000022.11:g.18985679_18985681del, NC_000022.11:g.18985680_18985681del, NC_000022.11:g.18985681del, NC_000022.11:g.18985681dup, NC_000022.11:g.18985680_18985681dup, NC_000022.11:g.18985679_18985681dup, NC_000022.11:g.18985678_18985681dup, NC_000022.10:g.18973188_18973194del, NC_000022.10:g.18973189_18973194del, NC_000022.10:g.18973190_18973194del, NC_000022.10:g.18973191_18973194del, NC_000022.10:g.18973192_18973194del, NC_000022.10:g.18973193_18973194del, NC_000022.10:g.18973194del, NC_000022.10:g.18973194dup, NC_000022.10:g.18973193_18973194dup, NC_000022.10:g.18973192_18973194dup, NC_000022.10:g.18973191_18973194dup
4.
rs1491486025 has merged into rs111813790 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT
[Show Flanks]
- Chromosome:
- 22:19010715
(GRCh38)
22:18998228
(GRCh37)
- Canonical SPDI:
- NC_000022.11:19010701:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000022.11:19010701:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000022.11:19010701:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000022.11:19010701:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000022.11:19010701:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.002/2
(GoNL)
TG=0.015/9
(NorthernSweden)
TG=0.03302/7
(Vietnamese)
TG=0.04858/89
(Korea1K)
TG=0.07228/362
(1000Genomes)
- HGVS:
5.
rs1491446619 has merged into rs369863587 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TT,TTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 22:19020836
(GRCh38)
22:19008349
(GRCh37)
- Canonical SPDI:
- NC_000022.11:19020826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:19020826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:19020826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:19020826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:19020826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:19020826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:19020826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:19020826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19020826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19020826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19020826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19020826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19020826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19020826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000022.11:g.19020836_19020849del, NC_000022.11:g.19020838_19020849del, NC_000022.11:g.19020839_19020849del, NC_000022.11:g.19020843_19020849del, NC_000022.11:g.19020844_19020849del, NC_000022.11:g.19020846_19020849del, NC_000022.11:g.19020847_19020849del, NC_000022.11:g.19020848_19020849del, NC_000022.11:g.19020849del, NC_000022.11:g.19020849dup, NC_000022.11:g.19020848_19020849dup, NC_000022.11:g.19020847_19020849dup, NC_000022.11:g.19020846_19020849dup, NC_000022.11:g.19020845_19020849dup, NC_000022.10:g.19008349_19008362del, NC_000022.10:g.19008351_19008362del, NC_000022.10:g.19008352_19008362del, NC_000022.10:g.19008356_19008362del, NC_000022.10:g.19008357_19008362del, NC_000022.10:g.19008359_19008362del, NC_000022.10:g.19008360_19008362del, NC_000022.10:g.19008361_19008362del, NC_000022.10:g.19008362del, NC_000022.10:g.19008362dup, NC_000022.10:g.19008361_19008362dup, NC_000022.10:g.19008360_19008362dup, NC_000022.10:g.19008359_19008362dup, NC_000022.10:g.19008358_19008362dup
6.
rs1491287931 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 22:19020826
(GRCh38)
22:19008339
(GRCh37)
- Canonical SPDI:
- NC_000022.11:19020825:CT:
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.026302/312
(
ALFA)
-=0.002067/244
(GnomAD)
-=0.009363/5
(NorthernSweden)
-=0.013572/227
(TOMMO)
- HGVS:
7.
rs1491286793 has merged into rs947702115 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 22:19024399
(GRCh38)
22:19011912
(GRCh37)
- Canonical SPDI:
- NC_000022.11:19024391:AAAAAAAAAAAAAA:AAAAAAA,NC_000022.11:19024391:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:19024391:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:19024391:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:19024391:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:19024391:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:19024391:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:19024391:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
- HGVS:
NC_000022.11:g.19024399_19024405del, NC_000022.11:g.19024402_19024405del, NC_000022.11:g.19024403_19024405del, NC_000022.11:g.19024404_19024405del, NC_000022.11:g.19024405del, NC_000022.11:g.19024405dup, NC_000022.11:g.19024404_19024405dup, NC_000022.11:g.19024403_19024405dup, NC_000022.10:g.19011912_19011918del, NC_000022.10:g.19011915_19011918del, NC_000022.10:g.19011916_19011918del, NC_000022.10:g.19011917_19011918del, NC_000022.10:g.19011918del, NC_000022.10:g.19011918dup, NC_000022.10:g.19011917_19011918dup, NC_000022.10:g.19011916_19011918dup
8.
rs1491181600 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTT
[Show Flanks]
- Chromosome:
- 22:18983737
(GRCh38)
22:18971251
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18983737::TTT
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
TTT=0.000029/3
(GnomAD)
TTT=0.000049/13
(TOPMED)
- HGVS:
10.
rs1491059440 has merged into rs11310577 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA
[Show Flanks]
- Chromosome:
- 22:19012229
(GRCh38)
22:18999742
(GRCh37)
- Canonical SPDI:
- NC_000022.11:19012218:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:19012218:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:19012218:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:19012218:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:19012218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.0029/11
(ALSPAC)
A=0.0057/21
(TWINSUK)
A=0.05/2
(GENOME_DK)
A=0.0524/31
(NorthernSweden)
- HGVS:
11.
rs1491033615 has merged into rs34046143 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 22:18980640
(GRCh38)
22:18968153
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18980627:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:18980627:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:18980627:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:18980627:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:18980627:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:18980627:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:18980627:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:18980627:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:18980627:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3574/1790
(1000Genomes)
- HGVS:
NC_000022.11:g.18980640_18980643del, NC_000022.11:g.18980641_18980643del, NC_000022.11:g.18980642_18980643del, NC_000022.11:g.18980643del, NC_000022.11:g.18980643dup, NC_000022.11:g.18980642_18980643dup, NC_000022.11:g.18980641_18980643dup, NC_000022.11:g.18980640_18980643dup, NC_000022.11:g.18980635_18980643dup, NC_000022.10:g.18968153_18968156del, NC_000022.10:g.18968154_18968156del, NC_000022.10:g.18968155_18968156del, NC_000022.10:g.18968156del, NC_000022.10:g.18968156dup, NC_000022.10:g.18968155_18968156dup, NC_000022.10:g.18968154_18968156dup, NC_000022.10:g.18968153_18968156dup, NC_000022.10:g.18968148_18968156dup
12.
rs1491009614 has merged into rs67475985 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 22:18986734
(GRCh38)
22:18974247
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:18986725:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000022.11:g.18986734_18986751del, NC_000022.11:g.18986736_18986751del, NC_000022.11:g.18986737_18986751del, NC_000022.11:g.18986738_18986751del, NC_000022.11:g.18986739_18986751del, NC_000022.11:g.18986740_18986751del, NC_000022.11:g.18986741_18986751del, NC_000022.11:g.18986742_18986751del, NC_000022.11:g.18986743_18986751del, NC_000022.11:g.18986744_18986751del, NC_000022.11:g.18986745_18986751del, NC_000022.11:g.18986746_18986751del, NC_000022.11:g.18986747_18986751del, NC_000022.11:g.18986748_18986751del, NC_000022.11:g.18986749_18986751del, NC_000022.11:g.18986750_18986751del, NC_000022.11:g.18986751del, NC_000022.11:g.18986751dup, NC_000022.11:g.18986750_18986751dup, NC_000022.11:g.18986749_18986751dup, NC_000022.11:g.18986748_18986751dup, NC_000022.11:g.18986747_18986751dup, NC_000022.11:g.18986746_18986751dup, NC_000022.11:g.18986745_18986751dup, NC_000022.10:g.18974247_18974264del, NC_000022.10:g.18974249_18974264del, NC_000022.10:g.18974250_18974264del, NC_000022.10:g.18974251_18974264del, NC_000022.10:g.18974252_18974264del, NC_000022.10:g.18974253_18974264del, NC_000022.10:g.18974254_18974264del, NC_000022.10:g.18974255_18974264del, NC_000022.10:g.18974256_18974264del, NC_000022.10:g.18974257_18974264del, NC_000022.10:g.18974258_18974264del, NC_000022.10:g.18974259_18974264del, NC_000022.10:g.18974260_18974264del, NC_000022.10:g.18974261_18974264del, NC_000022.10:g.18974262_18974264del, NC_000022.10:g.18974263_18974264del, NC_000022.10:g.18974264del, NC_000022.10:g.18974264dup, NC_000022.10:g.18974263_18974264dup, NC_000022.10:g.18974262_18974264dup, NC_000022.10:g.18974261_18974264dup, NC_000022.10:g.18974260_18974264dup, NC_000022.10:g.18974259_18974264dup, NC_000022.10:g.18974258_18974264dup
13.
rs1490797093 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 22:18995522
(GRCh38)
22:18983035
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18995521:A:T
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490792017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:18970116
(GRCh38)
22:18957629
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18970115:A:G
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00051/6
(
ALFA)
G=0.10799/308
(KOREAN)
A=0.5/1
(SGDP_PRJ)
- HGVS:
15.
rs1490781799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:19030675
(GRCh38)
22:19018188
(GRCh37)
- Canonical SPDI:
- NC_000022.11:19030674:C:G
- Gene:
- DGCR5 (Varview), FAM246C (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490724784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:19031386
(GRCh38)
22:19018899
(GRCh37)
- Canonical SPDI:
- NC_000022.11:19031385:C:T
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490693258 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTGGGCCAGGGCTGGGTCAGCCT>-
[Show Flanks]
- Chromosome:
- 22:19030551
(GRCh38)
22:19018064
(GRCh37)
- Canonical SPDI:
- NC_000022.11:19030538:CTGGGTCAGCCTTTGGGCCAGGGCTGGGTCAGCCT:CTGGGTCAGCCT
- Gene:
- DGCR5 (Varview), FAM246C (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTGGGTCAGCCT=0./0
(
ALFA)
-=0./0
(GnomAD)
-=0.000019/5
(TOPMED)
-=0.000035/1
(TOMMO)
- HGVS:
18.
rs1490684167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:18971344
(GRCh38)
22:18958857
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18971343:T:C
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000026/7
(TOPMED)
C=0.000156/1
(1000Genomes)
C=0.000496/8
(TOMMO)
C=0.001095/2
(Korea1K)
C=0.002399/7
(KOREAN)
- HGVS:
19.
rs1490658620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:18996823
(GRCh38)
22:18984336
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18996822:C:G
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_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:
20.
rs1490634331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
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- Chromosome:
- 22:18969751
(GRCh38)
22:18957264
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18969750:C:G,NC_000022.11:18969750:C:T
- Gene:
- DGCR5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: