Links from Gene
Items: 1 to 20 of 1000
1.
rs1491557872 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 3:143051802
(GRCh38)
3:142770644
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143051801:AG:
- Gene:
- U2SURP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.001562/10
(1000Genomes)
-=0.003126/438
(GnomAD)
- HGVS:
2.
rs1491507212 has merged into rs1279297135 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCGCCCCCCCCCC
[Show Flanks]
- Chromosome:
- 3:143000180
(GRCh38)
3:142719022
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:143000171:CCCCCCCCCC:CCCCCCCCCCCGCCCCCCCCCC
- Gene:
- U2SURP (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCC=0.00079/10
(
ALFA)
- HGVS:
NC_000003.12:g.143000180_143000181del, NC_000003.12:g.143000181del, NC_000003.12:g.143000181dup, NC_000003.12:g.143000180_143000181dup, NC_000003.12:g.143000179_143000181dup, NC_000003.12:g.143000178_143000181dup, NC_000003.12:g.143000177_143000181dup, NC_000003.12:g.143000172_143000181dup, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.12:g.143000181_143000182insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.12:g.143000172_143000181C[11]GCCCCCCCCCC[1], NC_000003.11:g.142719022_142719023del, NC_000003.11:g.142719023del, NC_000003.11:g.142719023dup, NC_000003.11:g.142719022_142719023dup, NC_000003.11:g.142719021_142719023dup, NC_000003.11:g.142719020_142719023dup, NC_000003.11:g.142719019_142719023dup, NC_000003.11:g.142719014_142719023dup, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.11:g.142719023_142719024insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000003.11:g.142719014_142719023C[11]GCCCCCCCCCC[1]
3.
rs1491430926 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,G
[Show Flanks]
- Chromosome:
- 3:143000172
(GRCh38)
3:142719015
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143000172::A,NC_000003.12:143000172::G
- Gene:
- U2SURP (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00004/1
(TOMMO)
- HGVS:
5.
rs1491420413 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 3:143051802
(GRCh38)
3:142770645
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143051802:GG:GGG
- Gene:
- U2SURP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
7.
rs1491262201 has merged into rs60505715 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTGAGTTTTTCTTTGTTTTTTACTTTTTTTTTTTTTATTTATTTTTTTCTATTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:143003690
(GRCh38)
3:142722532
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTGAGTTTTTCTTTGTTTTTTACTTTTTTTTTTTTTATTTATTTTTTTCTATTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:143003677:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- U2SURP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.143003690_143003701del, NC_000003.12:g.143003691_143003701del, NC_000003.12:g.143003692_143003701del, NC_000003.12:g.143003693_143003701del, NC_000003.12:g.143003694_143003701del, NC_000003.12:g.143003695_143003701del, NC_000003.12:g.143003696_143003701del, NC_000003.12:g.143003697_143003701del, NC_000003.12:g.143003698_143003701del, NC_000003.12:g.143003699_143003701del, NC_000003.12:g.143003700_143003701del, NC_000003.12:g.143003701del, NC_000003.12:g.143003701dup, NC_000003.12:g.143003700_143003701dup, NC_000003.12:g.143003699_143003701dup, NC_000003.12:g.143003698_143003701dup, NC_000003.12:g.143003678_143003701T[28]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.143003697_143003701dup, NC_000003.12:g.143003678_143003701T[29]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.143003678_143003701T[29]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.143003696_143003701dup, NC_000003.12:g.143003678_143003701T[30]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.143003678_143003701T[30]CTGAGTTTTTCTTTGTTTTTTACTTTTTTTTTTTTTATTTATTTTTTTCTATTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.143003695_143003701dup, NC_000003.12:g.143003694_143003701dup, NC_000003.12:g.143003678_143003701T[32]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.143003693_143003701dup, NC_000003.12:g.143003692_143003701dup, NC_000003.12:g.143003691_143003701dup, NC_000003.12:g.143003690_143003701dup, NC_000003.12:g.143003678_143003701T[36]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.143003689_143003701dup, NC_000003.12:g.143003688_143003701dup, NC_000003.12:g.143003687_143003701dup, NC_000003.12:g.143003686_143003701dup, NC_000003.12:g.143003685_143003701dup, NC_000003.12:g.143003684_143003701dup, NC_000003.12:g.143003683_143003701dup, NC_000003.12:g.143003682_143003701dup, NC_000003.12:g.143003681_143003701dup, NC_000003.12:g.143003680_143003701dup, NC_000003.12:g.143003679_143003701dup, NC_000003.12:g.143003678_143003701dup, NC_000003.12:g.143003701_143003702insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.143003701_143003702insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.143003701_143003702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.143003701_143003702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.142722532_142722543del, NC_000003.11:g.142722533_142722543del, NC_000003.11:g.142722534_142722543del, NC_000003.11:g.142722535_142722543del, NC_000003.11:g.142722536_142722543del, NC_000003.11:g.142722537_142722543del, NC_000003.11:g.142722538_142722543del, NC_000003.11:g.142722539_142722543del, NC_000003.11:g.142722540_142722543del, NC_000003.11:g.142722541_142722543del, NC_000003.11:g.142722542_142722543del, NC_000003.11:g.142722543del, NC_000003.11:g.142722543dup, NC_000003.11:g.142722542_142722543dup, NC_000003.11:g.142722541_142722543dup, NC_000003.11:g.142722540_142722543dup, NC_000003.11:g.142722520_142722543T[28]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.142722539_142722543dup, NC_000003.11:g.142722520_142722543T[29]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.142722520_142722543T[29]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.142722538_142722543dup, NC_000003.11:g.142722520_142722543T[30]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.142722520_142722543T[30]CTGAGTTTTTCTTTGTTTTTTACTTTTTTTTTTTTTATTTATTTTTTTCTATTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.142722537_142722543dup, NC_000003.11:g.142722536_142722543dup, NC_000003.11:g.142722520_142722543T[32]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.142722535_142722543dup, NC_000003.11:g.142722534_142722543dup, NC_000003.11:g.142722533_142722543dup, NC_000003.11:g.142722532_142722543dup, NC_000003.11:g.142722520_142722543T[36]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.142722531_142722543dup, NC_000003.11:g.142722530_142722543dup, NC_000003.11:g.142722529_142722543dup, NC_000003.11:g.142722528_142722543dup, NC_000003.11:g.142722527_142722543dup, NC_000003.11:g.142722526_142722543dup, NC_000003.11:g.142722525_142722543dup, NC_000003.11:g.142722524_142722543dup, NC_000003.11:g.142722523_142722543dup, NC_000003.11:g.142722522_142722543dup, NC_000003.11:g.142722521_142722543dup, NC_000003.11:g.142722520_142722543dup, NC_000003.11:g.142722543_142722544insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.142722543_142722544insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.142722543_142722544insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.142722543_142722544insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
9.
rs1491129629 has merged into rs753834748 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCCCCCC>-,C,CC,CCC,CCCC,CCCCC,CCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCC
[Show Flanks]
- Chromosome:
- 3:143004579
(GRCh38)
3:142723421
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143004573:CCCCCCCCCCCC:CCCCC,NC_000003.12:143004573:CCCCCCCCCCCC:CCCCCC,NC_000003.12:143004573:CCCCCCCCCCCC:CCCCCCC,NC_000003.12:143004573:CCCCCCCCCCCC:CCCCCCCC,NC_000003.12:143004573:CCCCCCCCCCCC:CCCCCCCCC,NC_000003.12:143004573:CCCCCCCCCCCC:CCCCCCCCCC,NC_000003.12:143004573:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000003.12:143004573:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000003.12:143004573:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000003.12:143004573:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000003.12:143004573:CCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000003.12:143004573:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000003.12:143004573:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000003.12:143004573:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000003.12:143004573:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC
- Gene:
- U2SURP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCC=0./0
(
ALFA)
C=0.275/11
(GENOME_DK)
-=0.3333/2
(KOREAN)
- HGVS:
NC_000003.12:g.143004579_143004585del, NC_000003.12:g.143004580_143004585del, NC_000003.12:g.143004581_143004585del, NC_000003.12:g.143004582_143004585del, NC_000003.12:g.143004583_143004585del, NC_000003.12:g.143004584_143004585del, NC_000003.12:g.143004585del, NC_000003.12:g.143004585dup, NC_000003.12:g.143004584_143004585dup, NC_000003.12:g.143004583_143004585dup, NC_000003.12:g.143004582_143004585dup, NC_000003.12:g.143004581_143004585dup, NC_000003.12:g.143004580_143004585dup, NC_000003.12:g.143004578_143004585dup, NC_000003.12:g.143004585_143004586insCCCCCCCCCCCCCC, NC_000003.11:g.142723421_142723427del, NC_000003.11:g.142723422_142723427del, NC_000003.11:g.142723423_142723427del, NC_000003.11:g.142723424_142723427del, NC_000003.11:g.142723425_142723427del, NC_000003.11:g.142723426_142723427del, NC_000003.11:g.142723427del, NC_000003.11:g.142723427dup, NC_000003.11:g.142723426_142723427dup, NC_000003.11:g.142723425_142723427dup, NC_000003.11:g.142723424_142723427dup, NC_000003.11:g.142723423_142723427dup, NC_000003.11:g.142723422_142723427dup, NC_000003.11:g.142723420_142723427dup, NC_000003.11:g.142723427_142723428insCCCCCCCCCCCCCC
10.
rs1491057732 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 3:143051622
(GRCh38)
3:142770464
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143051620:AGA:A
- Gene:
- U2SURP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
-=0.000029/4
(GnomAD)
- HGVS:
11.
rs1490934860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:143015360
(GRCh38)
3:142734202
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143015359:C:G
- Gene:
- U2SURP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490917830 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:143041263
(GRCh38)
3:142760105
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143041262:T:C
- Gene:
- U2SURP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
13.
rs1490887492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:143008926
(GRCh38)
3:142727768
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143008925:T:G
- Gene:
- U2SURP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1490852043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:143009847
(GRCh38)
3:142728689
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143009846:A:G
- Gene:
- U2SURP (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.
rs1490816508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:143033592
(GRCh38)
3:142752434
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143033591:T:A
- Gene:
- U2SURP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
16.
rs1490734817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:143017574
(GRCh38)
3:142736416
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143017573:G:A
- Gene:
- U2SURP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00061/10
(
ALFA)
A=0.00225/10
(Estonian)
G=0.5/1
(SGDP_PRJ)
- HGVS:
18.
rs1490677875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:143031309
(GRCh38)
3:142750151
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143031308:A:G
- Gene:
- U2SURP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490662065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:143034458
(GRCh38)
3:142753300
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143034457:A:G
- Gene:
- U2SURP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS: