Links from Gene
Items: 1 to 20 of 1000
1.
rs1491080157 has merged into rs71080722 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAATTAATTCTGCCAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATAAAAAAAATTTACTCACTCTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATAAAAAAATTGATTCTCCCTAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATAAAAAAAATGAATCTGCCCATAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATAAAAAAAATTGATTCTGCCTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAAAATAATTTTGCCTAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAAATGAATTTGACTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAATTAATTCTCCCTAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAATTGATTCCTCCTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAATTGATTCTGCAAATAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAATTGATTCTGCCAATAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAATTGATTCTGCCTAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAATAAAAAAAAATGATCCTCCACAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAATAAAAAAAATTTATTCTGCCTTAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAATTGATTCTGCCAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:155702160
(GRCh38)
1:155671951
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAATTAATTCTGCCAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAATTTACTCACTCTAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAATTGATTCTCCCTAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAATGAATCTGCCCATAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAATTGATTCTGCCTAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAATAATTTTGCCTAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAATGAATTTGACTAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAATTAATTCTCCCTAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAATTGATTCCTCCTAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAATTGATTCTGCAAATAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAATTGATTCTGCCAATAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAATTGATTCTGCCTAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAATGATCCTCCACAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAATTTATTCTGCCTTAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155702151:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATTGATTCTGCCAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DAP3 (Varview), LOC124904431 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
A=0.325/13
(GENOME_DK)
- HGVS:
NC_000001.11:g.155702160_155702170del, NC_000001.11:g.155702161_155702170del, NC_000001.11:g.155702162_155702170del, NC_000001.11:g.155702163_155702170del, NC_000001.11:g.155702164_155702170del, NC_000001.11:g.155702165_155702170del, NC_000001.11:g.155702166_155702170del, NC_000001.11:g.155702167_155702170del, NC_000001.11:g.155702168_155702170del, NC_000001.11:g.155702169_155702170del, NC_000001.11:g.155702170del, NC_000001.11:g.155702170dup, NC_000001.11:g.155702169_155702170dup, NC_000001.11:g.155702168_155702170dup, NC_000001.11:g.155702167_155702170dup, NC_000001.11:g.155702166_155702170dup, NC_000001.11:g.155702165_155702170dup, NC_000001.11:g.155702164_155702170dup, NC_000001.11:g.155702163_155702170dup, NC_000001.11:g.155702162_155702170dup, NC_000001.11:g.155702161_155702170dup, NC_000001.11:g.155702159_155702170dup, NC_000001.11:g.155702152_155702170A[34]TAAAAAAAATTAATTCTGCCAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.155702152_155702170A[27]TAAAAAAAATTTACTCACTCTAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.155702152_155702170A[27]TAAAAAAATTGATTCTCCCTAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.155702152_155702170A[26]TAAAAAAAATGAATCTGCCCATAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.155702152_155702170A[26]TAAAAAAAATTGATTCTGCCTAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.155702152_155702170A[25]TAAAAAAAAATAATTTTGCCTAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.155702152_155702170A[25]TAAAAAAAATGAATTTGACTAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.155702152_155702170A[25]TAAAAAAATTAATTCTCCCTAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.155702152_155702170A[25]TAAAAAAATTGATTCCTCCTAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.155702152_155702170A[25]TAAAAAAATTGATTCTGCAAATAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.155702152_155702170A[25]TAAAAAAATTGATTCTGCCAATAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.155702152_155702170A[25]TAAAAAAATTGATTCTGCCTAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.155702152_155702170A[24]TAAAAAAAAATGATCCTCCACAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.155702152_155702170A[24]TAAAAAAAATTTATTCTGCCTTAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.155702152_155702170A[24]TTGATTCTGCCAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.155671951_155671961del, NC_000001.10:g.155671952_155671961del, NC_000001.10:g.155671953_155671961del, NC_000001.10:g.155671954_155671961del, NC_000001.10:g.155671955_155671961del, NC_000001.10:g.155671956_155671961del, NC_000001.10:g.155671957_155671961del, NC_000001.10:g.155671958_155671961del, NC_000001.10:g.155671959_155671961del, NC_000001.10:g.155671960_155671961del, NC_000001.10:g.155671961del, NC_000001.10:g.155671961dup, NC_000001.10:g.155671960_155671961dup, NC_000001.10:g.155671959_155671961dup, NC_000001.10:g.155671958_155671961dup, NC_000001.10:g.155671957_155671961dup, NC_000001.10:g.155671956_155671961dup, NC_000001.10:g.155671955_155671961dup, NC_000001.10:g.155671954_155671961dup, NC_000001.10:g.155671953_155671961dup, NC_000001.10:g.155671952_155671961dup, NC_000001.10:g.155671950_155671961dup, NC_000001.10:g.155671943_155671961A[34]TAAAAAAAATTAATTCTGCCAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.155671943_155671961A[27]TAAAAAAAATTTACTCACTCTAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.155671943_155671961A[27]TAAAAAAATTGATTCTCCCTAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.155671943_155671961A[26]TAAAAAAAATGAATCTGCCCATAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.155671943_155671961A[26]TAAAAAAAATTGATTCTGCCTAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.155671943_155671961A[25]TAAAAAAAAATAATTTTGCCTAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.155671943_155671961A[25]TAAAAAAAATGAATTTGACTAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.155671943_155671961A[25]TAAAAAAATTAATTCTCCCTAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.155671943_155671961A[25]TAAAAAAATTGATTCCTCCTAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.155671943_155671961A[25]TAAAAAAATTGATTCTGCAAATAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.155671943_155671961A[25]TAAAAAAATTGATTCTGCCAATAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.155671943_155671961A[25]TAAAAAAATTGATTCTGCCTAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.155671943_155671961A[24]TAAAAAAAAATGATCCTCCACAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.155671943_155671961A[24]TAAAAAAAATTTATTCTGCCTTAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.155671943_155671961A[24]TTGATTCTGCCAAAAAAAAAAAAAAAAAAAAAA[1]
2.
rs1491067183 has merged into rs560166121 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:155724053
(GRCh38)
1:155693844
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155724038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:155724038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:155724038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:155724038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:155724038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:155724038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:155724038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155724038:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.22664/1135
(1000Genomes)
- HGVS:
NC_000001.11:g.155724053_155724056del, NC_000001.11:g.155724054_155724056del, NC_000001.11:g.155724055_155724056del, NC_000001.11:g.155724056del, NC_000001.11:g.155724056dup, NC_000001.11:g.155724055_155724056dup, NC_000001.11:g.155724053_155724056dup, NC_000001.11:g.155724039_155724056dup, NC_000001.10:g.155693844_155693847del, NC_000001.10:g.155693845_155693847del, NC_000001.10:g.155693846_155693847del, NC_000001.10:g.155693847del, NC_000001.10:g.155693847dup, NC_000001.10:g.155693846_155693847dup, NC_000001.10:g.155693844_155693847dup, NC_000001.10:g.155693830_155693847dup
4.
rs1491029644 has merged into rs530179771 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:155726798
(GRCh38)
1:155696589
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155726784:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:155726784:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:155726784:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:155726784:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:155726784:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:155726784:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:155726784:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:155726784:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:155726784:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.19209/962
(1000Genomes)
- HGVS:
NC_000001.11:g.155726798_155726802del, NC_000001.11:g.155726799_155726802del, NC_000001.11:g.155726800_155726802del, NC_000001.11:g.155726801_155726802del, NC_000001.11:g.155726802del, NC_000001.11:g.155726802dup, NC_000001.11:g.155726801_155726802dup, NC_000001.11:g.155726800_155726802dup, NC_000001.11:g.155726799_155726802dup, NC_000001.10:g.155696589_155696593del, NC_000001.10:g.155696590_155696593del, NC_000001.10:g.155696591_155696593del, NC_000001.10:g.155696592_155696593del, NC_000001.10:g.155696593del, NC_000001.10:g.155696593dup, NC_000001.10:g.155696592_155696593dup, NC_000001.10:g.155696591_155696593dup, NC_000001.10:g.155696590_155696593dup
5.
rs1490867108 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:155705493
(GRCh38)
1:155675284
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155705492:C:G,NC_000001.11:155705492:C:T
- Gene:
- DAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
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:
8.
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:
9.
rs1490697995 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 1:155721624
(GRCh38)
1:155691415
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155721623:C:A,NC_000001.11:155721623:C:G
- Gene:
- DAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(GnomAD)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1490668591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:155692423
(GRCh38)
1:155662214
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155692422:C:T
- Gene:
- DAP3 (Varview), LOC124904431 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD)
- HGVS:
11.
rs1490648591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:155708644
(GRCh38)
1:155678435
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155708643:C:T
- Gene:
- DAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
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:
13.
rs1490605632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:155719822
(GRCh38)
1:155689613
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155719821:C:T
- Gene:
- DAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000447/2
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490602303 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:155707584
(GRCh38)
1:155677375
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155707583:A:G
- Gene:
- DAP3 (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:
15.
rs1490553650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:155717039
(GRCh38)
1:155686830
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155717038:C:T
- Gene:
- DAP3 (Varview)
- Functional Consequence:
- intron_variant,stop_gained,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.155717039C>T, NC_000001.10:g.155686830C>T, NM_004632.4:c.79C>T, NM_004632.3:c.79C>T, XM_024449697.2:c.79C>T, XM_024449697.1:c.79C>T, XM_024449698.2:c.79C>T, XM_024449698.1:c.79C>T, NM_033657.2:c.79C>T, XM_017002294.2:c.79C>T, XM_017002294.1:c.79C>T, XM_047430081.1:c.79C>T, XM_047430087.1:c.79C>T, XM_047430085.1:c.79C>T, XM_047430090.1:c.79C>T, XM_047430096.1:c.79C>T, NM_001199849.1:c.79C>T, NM_001199850.1:c.79C>T, NP_004623.1:p.Gln27Ter, XP_024305465.1:p.Gln27Ter, XP_024305466.1:p.Gln27Ter, NP_387506.1:p.Gln27Ter, XP_016857783.1:p.Gln27Ter, XP_047286037.1:p.Gln27Ter, XP_047286043.1:p.Gln27Ter, XP_047286041.1:p.Gln27Ter, XP_047286046.1:p.Gln27Ter, XP_047286052.1:p.Gln27Ter, NP_001186778.1:p.Gln27Ter, NP_001186779.1:p.Gln27Ter
16.
rs1490539134 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:155724239
(GRCh38)
1:155694031
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155724239:GG:GGG
- Gene:
- DAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
17.
rs1490468333 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:155730416
(GRCh38)
1:155700207
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155730415:G:C
- Gene:
- DAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490448887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:155716124
(GRCh38)
1:155685915
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155716123:C:T
- Gene:
- DAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
19.
rs1490377186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:155704521
(GRCh38)
1:155674312
(GRCh37)
- Canonical SPDI:
- NC_000001.11:155704520:T:C
- Gene:
- DAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000098/26
(TOPMED)
C=0.0001/14
(GnomAD)
- HGVS: