Links from Gene
Items: 1 to 20 of 1000
1.
rs1491580279 has merged into rs1346595768 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAAA
[Show Flanks]
- Chromosome:
- 1:155661516
(GRCh38)
1:155631307
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155661514:AAA:A,NC_000001.11:155661514:AAA:AA,NC_000001.11:155661514:AAA:AAAAA
- Gene:
- YY1AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.00004/3
(GnomAD)
-=0.04423/164
(TWINSUK)
-=0.04748/183
(ALSPAC)
- HGVS:
3.
rs1491496624 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,G
[Show Flanks]
- Chromosome:
- 1:155667952
(GRCh38)
1:155637744
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155667952::C,NC_000001.11:155667952::G
- Gene:
- YY1AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000035/1
(TOMMO)
C=0.000096/13
(GnomAD)
- HGVS:
4.
rs1491495134 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:155667512
(GRCh38)
1:155637304
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155667512::G
- Gene:
- YY1AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
- HGVS:
5.
rs1491459950 has merged into rs58155011 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:155665795
(GRCh38)
1:155635586
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155665784:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- YY1AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.155665795_155665809del, NC_000001.11:g.155665796_155665809del, NC_000001.11:g.155665797_155665809del, NC_000001.11:g.155665798_155665809del, NC_000001.11:g.155665799_155665809del, NC_000001.11:g.155665802_155665809del, NC_000001.11:g.155665803_155665809del, NC_000001.11:g.155665804_155665809del, NC_000001.11:g.155665805_155665809del, NC_000001.11:g.155665806_155665809del, NC_000001.11:g.155665807_155665809del, NC_000001.11:g.155665808_155665809del, NC_000001.11:g.155665809del, NC_000001.11:g.155665809dup, NC_000001.11:g.155665808_155665809dup, NC_000001.11:g.155665807_155665809dup, NC_000001.11:g.155665806_155665809dup, NC_000001.11:g.155665805_155665809dup, NC_000001.11:g.155665804_155665809dup, NC_000001.11:g.155665803_155665809dup, NC_000001.11:g.155665800_155665809dup, NC_000001.10:g.155635586_155635600del, NC_000001.10:g.155635587_155635600del, NC_000001.10:g.155635588_155635600del, NC_000001.10:g.155635589_155635600del, NC_000001.10:g.155635590_155635600del, NC_000001.10:g.155635593_155635600del, NC_000001.10:g.155635594_155635600del, NC_000001.10:g.155635595_155635600del, NC_000001.10:g.155635596_155635600del, NC_000001.10:g.155635597_155635600del, NC_000001.10:g.155635598_155635600del, NC_000001.10:g.155635599_155635600del, NC_000001.10:g.155635600del, NC_000001.10:g.155635600dup, NC_000001.10:g.155635599_155635600dup, NC_000001.10:g.155635598_155635600dup, NC_000001.10:g.155635597_155635600dup, NC_000001.10:g.155635596_155635600dup, NC_000001.10:g.155635595_155635600dup, NC_000001.10:g.155635594_155635600dup, NC_000001.10:g.155635591_155635600dup
6.
rs1491449278 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 1:155667953
(GRCh38)
1:155637744
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155667951:AAA:A
- Gene:
- YY1AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000186/25
(GnomAD)
- HGVS:
7.
rs1491370612 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 1:155662166
(GRCh38)
1:155631957
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155662165:GA:
- Gene:
- YY1AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000285/4
(
ALFA)
-=0.000197/26
(GnomAD)
-=0.000238/63
(TOPMED)
- HGVS:
8.
rs1491352099 has merged into rs1346595768 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAAA
[Show Flanks]
- Chromosome:
- 1:155661516
(GRCh38)
1:155631307
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155661514:AAA:A,NC_000001.11:155661514:AAA:AA,NC_000001.11:155661514:AAA:AAAAA
- Gene:
- YY1AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.00004/3
(GnomAD)
-=0.04423/164
(TWINSUK)
-=0.04748/183
(ALSPAC)
- HGVS:
9.
rs1491320195 has merged into rs35423534 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:155680195
(GRCh38)
1:155649986
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155680181:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:155680181:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:155680181:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:155680181:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:155680181:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:155680181:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:155680181:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:155680181:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- YY1AP1 (Varview), SCARNA26A (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4629/2318
(1000Genomes)
- HGVS:
NC_000001.11:g.155680195_155680198del, NC_000001.11:g.155680196_155680198del, NC_000001.11:g.155680197_155680198del, NC_000001.11:g.155680198del, NC_000001.11:g.155680198dup, NC_000001.11:g.155680197_155680198dup, NC_000001.11:g.155680196_155680198dup, NC_000001.11:g.155680192_155680198dup, NC_000001.10:g.155649986_155649989del, NC_000001.10:g.155649987_155649989del, NC_000001.10:g.155649988_155649989del, NC_000001.10:g.155649989del, NC_000001.10:g.155649989dup, NC_000001.10:g.155649988_155649989dup, NC_000001.10:g.155649987_155649989dup, NC_000001.10:g.155649983_155649989dup
10.
rs1491211206 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,G
[Show Flanks]
- Chromosome:
- 1:155661515
(GRCh38)
1:155631307
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155661515::C,NC_000001.11:155661515::G
- Gene:
- YY1AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.0036/23
(1000Genomes)
- HGVS:
11.
rs1490858553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:155675883
(GRCh38)
1:155645674
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155675882:C:T
- Gene:
- YY1AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490828523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:155673899
(GRCh38)
1:155643690
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155673898:C:A,NC_000001.11:155673898:C:T
- Gene:
- YY1AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00046/13
(TOMMO)
- HGVS:
13.
rs1490805898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:155687079
(GRCh38)
1:155656870
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155687078:T:C
- Gene:
- DAP3 (Varview), YY1AP1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490769454 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:155686145
(GRCh38)
1:155655936
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155686144:C:T
- Gene:
- DAP3 (Varview), YY1AP1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_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.
rs1490643235 has merged into rs1015807318 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 1:155690741
(GRCh38)
1:155660532
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155690740:TTTTTTTT:TTTTTTT,NC_000001.11:155690740:TTTTTTTT:TTTTTTTTT
- Gene:
- DAP3 (Varview), YY1AP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000064/17
(TOPMED)
- HGVS:
16.
rs1490395579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:155664783
(GRCh38)
1:155634574
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155664782:T:G
- Gene:
- YY1AP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
17.
rs1490377298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:155679396
(GRCh38)
1:155649187
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155679395:T:C
- Gene:
- YY1AP1 (Varview), SCARNA26A (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490314800 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:155686546
(GRCh38)
1:155656337
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155686545:C:T
- Gene:
- DAP3 (Varview), YY1AP1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1490137350 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTC
[Show Flanks]
- Chromosome:
- 1:155689529
(GRCh38)
1:155659321
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155689529:CTTC:CTTCCTTC
- Gene:
- DAP3 (Varview), YY1AP1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTTCCTTC=0./0
(
ALFA)
CTTC=0.000011/3
(TOPMED)
CTTC=0.000021/3
(GnomAD)
CTTC=0.000312/2
(1000Genomes)
- HGVS:
20.
rs1490097740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:155671576
(GRCh38)
1:155641367
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155671575:A:G
- Gene:
- YY1AP1 (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: