Links from Gene
Items: 1 to 20 of 6791
1.
rs1491512736 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 18:12430570
(GRCh38)
18:12430570
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12430570:GA:GAGA
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGA=0.000084/1
(
ALFA)
GA=0.000043/6
(GnomAD)
GA=0.000087/23
(TOPMED)
- HGVS:
2.
rs1491463216 has merged into rs56323525 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 18:12422373
(GRCh38)
18:12422372
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12422361:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:12422361:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:12422361:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:12422361:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:12422361:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:12422361:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:12422361:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:12422361:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.4093/2050
(1000Genomes)
- HGVS:
NC_000018.10:g.12422373_12422376del, NC_000018.10:g.12422374_12422376del, NC_000018.10:g.12422375_12422376del, NC_000018.10:g.12422376del, NC_000018.10:g.12422376dup, NC_000018.10:g.12422375_12422376dup, NC_000018.10:g.12422374_12422376dup, NC_000018.10:g.12422367_12422376dup, NC_000018.9:g.12422372_12422375del, NC_000018.9:g.12422373_12422375del, NC_000018.9:g.12422374_12422375del, NC_000018.9:g.12422375del, NC_000018.9:g.12422375dup, NC_000018.9:g.12422374_12422375dup, NC_000018.9:g.12422373_12422375dup, NC_000018.9:g.12422366_12422375dup
3.
rs1491248702 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 18:12426567
(GRCh38)
18:12426566
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12426566:GT:
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.0056/25
(
ALFA)
-=0.00109/2
(Korea1K)
-=0.00168/28
(TOMMO)
- HGVS:
5.
rs1491233229 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AG,AT
[Show Flanks]
- Chromosome:
- 18:12411485
(GRCh38)
18:12411485
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12411485::AG,NC_000018.10:12411485::AT
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AT=0./0
(
ALFA)
AT=0.00013/18
(GnomAD)
- HGVS:
6.
rs1491230788 has merged into rs398059054 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 18:12411477
(GRCh38)
18:12411476
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12411465:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:12411465:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:12411465:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:12411465:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:12411465:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:12411465:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:12411465:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:12411465:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12411465:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12411465:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12411465:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12411465:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000018.10:g.12411477_12411485del, NC_000018.10:g.12411480_12411485del, NC_000018.10:g.12411481_12411485del, NC_000018.10:g.12411482_12411485del, NC_000018.10:g.12411483_12411485del, NC_000018.10:g.12411484_12411485del, NC_000018.10:g.12411485del, NC_000018.10:g.12411485dup, NC_000018.10:g.12411484_12411485dup, NC_000018.10:g.12411483_12411485dup, NC_000018.10:g.12411482_12411485dup, NC_000018.10:g.12411479_12411485dup, NC_000018.9:g.12411476_12411484del, NC_000018.9:g.12411479_12411484del, NC_000018.9:g.12411480_12411484del, NC_000018.9:g.12411481_12411484del, NC_000018.9:g.12411482_12411484del, NC_000018.9:g.12411483_12411484del, NC_000018.9:g.12411484del, NC_000018.9:g.12411484dup, NC_000018.9:g.12411483_12411484dup, NC_000018.9:g.12411482_12411484dup, NC_000018.9:g.12411481_12411484dup, NC_000018.9:g.12411478_12411484dup
7.
rs1491209096 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 18:12411485
(GRCh38)
18:12411484
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12411484:AG:
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00049/8
(
ALFA)
-=0.000444/62
(GnomAD)
- HGVS:
8.
rs1491171622 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 18:12422215
(GRCh38)
18:12422214
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12422214:TA:
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00049/8
(
ALFA)
-=0.000067/9
(GnomAD)
- HGVS:
9.
rs1491149072 has merged into rs374236203 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 18:12430753
(GRCh38)
18:12430752
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12430745:GTGTGTGTG:GTGTGTG
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTG=0.000169/2
(
ALFA)
-=0.0004/106
(TOPMED)
-=0.000431/57
(GnomAD)
-=0.000468/3
(1000Genomes)
- HGVS:
10.
rs1491131694 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AAAA,AAAT
[Show Flanks]
- Chromosome:
- 18:12426567
(GRCh38)
18:12426567
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12426567::AAAA,NC_000018.10:12426567::AAAT
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAT=0./0
(
ALFA)
AAAT=0.00274/76
(TOMMO)
- HGVS:
11.
rs1491075706 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-,TGTG
[Show Flanks]
- Chromosome:
- 18:12430367
(GRCh38)
18:12430366
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12430358:TGTGTGTGTG:TGTGTGTG,NC_000018.10:12430358:TGTGTGTGTG:TGTGTGTGTGTG
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTGTGTGTG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
12.
rs1491062136 has merged into rs71371255 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 18:12409173
(GRCh38)
18:12409172
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:12409159:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.325/13
(GENOME_DK)
- HGVS:
NC_000018.10:g.12409173_12409184del, NC_000018.10:g.12409174_12409184del, NC_000018.10:g.12409176_12409184del, NC_000018.10:g.12409177_12409184del, NC_000018.10:g.12409178_12409184del, NC_000018.10:g.12409180_12409184del, NC_000018.10:g.12409181_12409184del, NC_000018.10:g.12409182_12409184del, NC_000018.10:g.12409183_12409184del, NC_000018.10:g.12409184del, NC_000018.10:g.12409184dup, NC_000018.10:g.12409183_12409184dup, NC_000018.10:g.12409182_12409184dup, NC_000018.10:g.12409181_12409184dup, NC_000018.10:g.12409180_12409184dup, NC_000018.10:g.12409179_12409184dup, NC_000018.10:g.12409178_12409184dup, NC_000018.10:g.12409177_12409184dup, NC_000018.10:g.12409176_12409184dup, NC_000018.10:g.12409175_12409184dup, NC_000018.10:g.12409174_12409184dup, NC_000018.10:g.12409173_12409184dup, NC_000018.10:g.12409172_12409184dup, NC_000018.10:g.12409171_12409184dup, NC_000018.10:g.12409169_12409184dup, NC_000018.10:g.12409184_12409185insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.12409172_12409183del, NC_000018.9:g.12409173_12409183del, NC_000018.9:g.12409175_12409183del, NC_000018.9:g.12409176_12409183del, NC_000018.9:g.12409177_12409183del, NC_000018.9:g.12409179_12409183del, NC_000018.9:g.12409180_12409183del, NC_000018.9:g.12409181_12409183del, NC_000018.9:g.12409182_12409183del, NC_000018.9:g.12409183del, NC_000018.9:g.12409183dup, NC_000018.9:g.12409182_12409183dup, NC_000018.9:g.12409181_12409183dup, NC_000018.9:g.12409180_12409183dup, NC_000018.9:g.12409179_12409183dup, NC_000018.9:g.12409178_12409183dup, NC_000018.9:g.12409177_12409183dup, NC_000018.9:g.12409176_12409183dup, NC_000018.9:g.12409175_12409183dup, NC_000018.9:g.12409174_12409183dup, NC_000018.9:g.12409173_12409183dup, NC_000018.9:g.12409172_12409183dup, NC_000018.9:g.12409171_12409183dup, NC_000018.9:g.12409170_12409183dup, NC_000018.9:g.12409168_12409183dup, NC_000018.9:g.12409183_12409184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
13.
rs1491012986 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 18:12409184
(GRCh38)
18:12409183
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12409183:TG:
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490964205 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:12428523
(GRCh38)
18:12428522
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12428522:C:T
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490867210 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:12427471
(GRCh38)
18:12427470
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12427470:T:C
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000156/1
(1000Genomes)
- HGVS:
16.
rs1490804472 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:12408203
(GRCh38)
18:12408202
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12408202:G:A
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490786433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:12420059
(GRCh38)
18:12420058
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12420058:A:G
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000023/1
(GnomAD_exomes)
- HGVS:
18.
rs1490697122 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 18:12407793
(GRCh38)
18:12407792
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12407792:G:A,NC_000018.10:12407792:G:C
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(KOREAN)
A=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
A=0.000708/12
(TOMMO)
A=0.001652/3
(Korea1K)
- HGVS:
19.
rs1490659435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:12420675
(GRCh38)
18:12420674
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12420674:G:A
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000023/3
(GnomAD)
- HGVS:
20.
rs1490613873 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 18:12421401
(GRCh38)
18:12421400
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12421400:G:A,NC_000018.10:12421400:G:T
- Gene:
- PRELID3A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00055/1
(Korea1K)
- HGVS: