Links from Gene
Items: 1 to 20 of 11066
1.
rs1491581952 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 6:36187081
(GRCh38)
6:36154858
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36187075:ATATATA:ATATA
- Gene:
- BRPF3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATA=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
2.
rs1491569840 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 6:36187082
(GRCh38)
6:36154859
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36187081:AA:
- Gene:
- BRPF3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00013/13
(GnomAD)
- HGVS:
3.
rs1491531196 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TAT
[Show Flanks]
- Chromosome:
- 6:36183670
(GRCh38)
6:36151448
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36183670::TAT
- Gene:
- BRPF3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
TAT=0.000007/1
(GnomAD)
- HGVS:
4.
rs1491520354 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 6:36196004
(GRCh38)
6:36163781
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36196003:TA:
- Gene:
- BRPF3 (Varview), BRPF3-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000759/9
(
ALFA)
-=0.000625/4
(1000Genomes)
-=0.00223/276
(GnomAD)
-=0.002442/40
(TOMMO)
-=0.100983/185
(Korea1K)
- HGVS:
5.
rs1491511050 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:36183677
(GRCh38)
6:36151454
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36183669:ACACACACA:ACACACA
- Gene:
- BRPF3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACACACA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
6.
rs1491457261 has merged into rs1313304360 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATTATATA>-,ATATATTATATAATATATTATATA
[Show Flanks]
- Chromosome:
- 6:36187095
(GRCh38)
6:36154872
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36187076:TATATAATATATTATATAATATATTATATA:TATATAATATATTATATA,NC_000006.12:36187076:TATATAATATATTATATAATATATTATATA:TATATAATATATTATATAATATATTATATAATATATTATATA
- Gene:
- BRPF3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATAATATATTATATA=0.001539/25
(
ALFA)
-=0.000106/3
(TOMMO)
-=0.002323/238
(GnomAD)
-=0.002498/16
(1000Genomes)
- HGVS:
7.
rs1491449182 has merged into rs11412829 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:36161572
(GRCh38)
6:36129349
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36161561:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:36161561:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:36161561:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:36161561:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:36161561:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:36161561:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:36161561:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:36161561:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:36161561:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:36161561:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- BRPF3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
T=0.4828/2418
(1000Genomes)
- HGVS:
NC_000006.12:g.36161572_36161578del, NC_000006.12:g.36161574_36161578del, NC_000006.12:g.36161575_36161578del, NC_000006.12:g.36161576_36161578del, NC_000006.12:g.36161577_36161578del, NC_000006.12:g.36161578del, NC_000006.12:g.36161578dup, NC_000006.12:g.36161577_36161578dup, NC_000006.12:g.36161576_36161578dup, NC_000006.12:g.36161575_36161578dup, NC_000006.11:g.36129349_36129355del, NC_000006.11:g.36129351_36129355del, NC_000006.11:g.36129352_36129355del, NC_000006.11:g.36129353_36129355del, NC_000006.11:g.36129354_36129355del, NC_000006.11:g.36129355del, NC_000006.11:g.36129355dup, NC_000006.11:g.36129354_36129355dup, NC_000006.11:g.36129353_36129355dup, NC_000006.11:g.36129352_36129355dup
8.
rs1491430712 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAATATATAT,ATAT
[Show Flanks]
- Chromosome:
- 6:36187087
(GRCh38)
6:36154864
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36187082:ATATAT:ATAT,NC_000006.12:36187082:ATATAT:ATATATAATATATAT,NC_000006.12:36187082:ATATAT:ATATATAT
- Gene:
- BRPF3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATAATATATAT=0./0
(
ALFA)
ATATATAAT=0.000004/1
(TOPMED)
-=0.00001/1
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
9.
rs1491429187 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,G
[Show Flanks]
- Chromosome:
- 6:36161562
(GRCh38)
6:36129340
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36161562::A,NC_000006.12:36161562::G
- Gene:
- BRPF3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000067/1
(GnomAD)
- HGVS:
10.
rs1491418127 has merged into rs113889420 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC,CCCC,CCCCC
[Show Flanks]
- Chromosome:
- 6:36197204
(GRCh38)
6:36164981
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36197197:CCCCCCCC:CCCCCC,NC_000006.12:36197197:CCCCCCCC:CCCCCCC,NC_000006.12:36197197:CCCCCCCC:CCCCCCCCC,NC_000006.12:36197197:CCCCCCCC:CCCCCCCCCC,NC_000006.12:36197197:CCCCCCCC:CCCCCCCCCCC
- Gene:
- BRPF3 (Varview), BRPF3-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCC=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
C=0.073529/5
(1000Genomes)
- HGVS:
11.
rs1491249121 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG
[Show Flanks]
- Chromosome:
- 6:36197666
(GRCh38)
6:36165443
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36197660:GGGGGGG:GGGGG,NC_000006.12:36197660:GGGGGGG:GGGGGG,NC_000006.12:36197660:GGGGGGG:GGGGGGGG
- Gene:
- BRPF3 (Varview), BRPF3-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000062/1
(GnomAD)
- HGVS:
12.
rs1491227501 has merged into rs35085113 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC
[Show Flanks]
- Chromosome:
- 6:36184259
(GRCh38)
6:36152036
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36184249:CCCCCCCCCCCC:CCCCCCCCC,NC_000006.12:36184249:CCCCCCCCCCCC:CCCCCCCCCC,NC_000006.12:36184249:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000006.12:36184249:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000006.12:36184249:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000006.12:36184249:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000006.12:36184249:CCCCCCCCCCCC:CCCCCCCCCCCCCCCC
- Gene:
- BRPF3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.36184259_36184261del, NC_000006.12:g.36184260_36184261del, NC_000006.12:g.36184261del, NC_000006.12:g.36184261dup, NC_000006.12:g.36184260_36184261dup, NC_000006.12:g.36184259_36184261dup, NC_000006.12:g.36184258_36184261dup, NC_000006.11:g.36152036_36152038del, NC_000006.11:g.36152037_36152038del, NC_000006.11:g.36152038del, NC_000006.11:g.36152038dup, NC_000006.11:g.36152037_36152038dup, NC_000006.11:g.36152036_36152038dup, NC_000006.11:g.36152035_36152038dup
13.
rs1491197548 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:36150982
(GRCh38)
6:36118759
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36150981:CT:
- Gene:
- BRPF3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0049/19
(ALSPAC)
-=0.017/63
(TWINSUK)
- HGVS:
14.
rs1491116885 has merged into rs142875258 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 6:36196007
(GRCh38)
6:36163784
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36196004:AAAA:AA,NC_000006.12:36196004:AAAA:AAA,NC_000006.12:36196004:AAAA:AAAAA
- Gene:
- BRPF3 (Varview), BRPF3-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0.15089/1530
(
ALFA)
-=0.00519/20
(ALSPAC)
-=0.25/10
(GENOME_DK)
-=0.32274/193
(NorthernSweden)
A=0.33884/5677
(TOMMO)
A=0.38359/1921
(1000Genomes)
- HGVS:
15.
rs1491115614 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 6:36184260
(GRCh38)
6:36152038
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36184260::A
- Gene:
- BRPF3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
- HGVS:
16.
rs1491069066 has merged into rs34611496 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:36153209
(GRCh38)
6:36120986
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36153194:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:36153194:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:36153194:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:36153194:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:36153194:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:36153194:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:36153194:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- BRPF3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.36153209_36153211del, NC_000006.12:g.36153210_36153211del, NC_000006.12:g.36153211del, NC_000006.12:g.36153211dup, NC_000006.12:g.36153210_36153211dup, NC_000006.12:g.36153209_36153211dup, NC_000006.12:g.36153203_36153211dup, NC_000006.11:g.36120986_36120988del, NC_000006.11:g.36120987_36120988del, NC_000006.11:g.36120988del, NC_000006.11:g.36120988dup, NC_000006.11:g.36120987_36120988dup, NC_000006.11:g.36120986_36120988dup, NC_000006.11:g.36120980_36120988dup
17.
rs1491042400 has merged into rs1328658209 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACA>-,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 6:36177165
(GRCh38)
6:36144942
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:36177146:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- BRPF3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.36177147CA[9], NC_000006.12:g.36177147CA[12], NC_000006.12:g.36177147CA[13], NC_000006.12:g.36177147CA[14], NC_000006.12:g.36177147CA[15], NC_000006.12:g.36177147CA[16], NC_000006.12:g.36177147CA[18], NC_000006.12:g.36177147CA[19], NC_000006.12:g.36177147CA[20], NC_000006.12:g.36177147CA[21], NC_000006.12:g.36177147CA[22], NC_000006.12:g.36177147CA[23], NC_000006.12:g.36177147CA[24], NC_000006.12:g.36177147CA[25], NC_000006.12:g.36177147CA[26], NC_000006.12:g.36177147CA[27], NC_000006.12:g.36177147CA[28], NC_000006.12:g.36177147CA[29], NC_000006.11:g.36144924CA[9], NC_000006.11:g.36144924CA[12], NC_000006.11:g.36144924CA[13], NC_000006.11:g.36144924CA[14], NC_000006.11:g.36144924CA[15], NC_000006.11:g.36144924CA[16], NC_000006.11:g.36144924CA[18], NC_000006.11:g.36144924CA[19], NC_000006.11:g.36144924CA[20], NC_000006.11:g.36144924CA[21], NC_000006.11:g.36144924CA[22], NC_000006.11:g.36144924CA[23], NC_000006.11:g.36144924CA[24], NC_000006.11:g.36144924CA[25], NC_000006.11:g.36144924CA[26], NC_000006.11:g.36144924CA[27], NC_000006.11:g.36144924CA[28], NC_000006.11:g.36144924CA[29]
18.
rs1491036723 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:36177180
(GRCh38)
6:36144957
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36177179:AT:
- Gene:
- BRPF3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.001714/28
(
ALFA)
-=0.00046/8
(TOMMO)
-=0.001953/272
(GnomAD)
-=0.006004/11
(Korea1K)
- HGVS:
19.
rs1490947097 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CATACTTCAAGAA>-
[Show Flanks]
- Chromosome:
- 6:36179958
(GRCh38)
6:36147735
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36179955:AACATACTTCAAGAA:AA
- Gene:
- BRPF3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
20.
rs1490863327 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:36194864
(GRCh38)
6:36162641
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36194863:T:C
- Gene:
- BRPF3 (Varview), BRPF3-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS: