Links from Gene
Items: 1 to 20 of 4497
1.
rs1491535420 has merged into rs11369412 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT,TTTT
[Show Flanks]
- Chromosome:
- 3:29281317
(GRCh38)
3:29322808
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29281311:TTTTTTT:TTTTT,NC_000003.12:29281311:TTTTTTT:TTTTTTTT,NC_000003.12:29281311:TTTTTTT:TTTTTTTTT
- Gene:
- RBMS3 (Varview), RBMS3-AS3 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0.00044/2
(
ALFA)
-=0.05/2
(GENOME_DK)
-=0.05657/253
(Estonian)
-=0.08667/52
(NorthernSweden)
-=0.17452/874
(1000Genomes)
-=0.24749/4148
(TOMMO)
-=0.25873/474
(Korea1K)
- HGVS:
NC_000003.12:g.29281317_29281318del, NC_000003.12:g.29281318dup, NC_000003.12:g.29281317_29281318dup, NC_000003.11:g.29322808_29322809del, NC_000003.11:g.29322809dup, NC_000003.11:g.29322808_29322809dup, NM_014483.4:c.-365_-364del, NM_014483.4:c.-364dup, NM_014483.4:c.-365_-364dup, NM_014483.3:c.-365_-364del, NM_014483.3:c.-364dup, NM_014483.3:c.-365_-364dup, NM_001003793.3:c.-365_-364del, NM_001003793.3:c.-364dup, NM_001003793.3:c.-365_-364dup, NM_001003793.2:c.-365_-364del, NM_001003793.2:c.-364dup, NM_001003793.2:c.-365_-364dup, XM_005265061.3:c.-365_-364del, XM_005265061.3:c.-364dup, XM_005265061.3:c.-365_-364dup, XM_005265061.2:c.-365_-364del, XM_005265061.2:c.-364dup, XM_005265061.2:c.-365_-364dup, XM_005265061.1:c.-365_-364del, XM_005265061.1:c.-364dup, XM_005265061.1:c.-365_-364dup, NM_001003792.3:c.-365_-364del, NM_001003792.3:c.-364dup, NM_001003792.3:c.-365_-364dup, NM_001003792.2:c.-365_-364del, NM_001003792.2:c.-364dup, NM_001003792.2:c.-365_-364dup, XM_017006179.2:c.-365_-364del, XM_017006179.2:c.-364dup, XM_017006179.2:c.-365_-364dup, XM_017006179.1:c.-365_-364del, XM_017006179.1:c.-364dup, XM_017006179.1:c.-365_-364dup, NM_001177711.2:c.-365_-364del, NM_001177711.2:c.-364dup, NM_001177711.2:c.-365_-364dup, NM_001177711.1:c.-365_-364del, NM_001177711.1:c.-364dup, NM_001177711.1:c.-365_-364dup, XM_017006180.2:c.-365_-364del, XM_017006180.2:c.-364dup, XM_017006180.2:c.-365_-364dup, XM_017006180.1:c.-365_-364del, XM_017006180.1:c.-364dup, XM_017006180.1:c.-365_-364dup, XM_017006181.2:c.-365_-364del, XM_017006181.2:c.-364dup, XM_017006181.2:c.-365_-364dup, XM_017006181.1:c.-365_-364del, XM_017006181.1:c.-364dup, XM_017006181.1:c.-365_-364dup, NM_001177712.2:c.-365_-364del, NM_001177712.2:c.-364dup, NM_001177712.2:c.-365_-364dup, NM_001177712.1:c.-365_-364del, NM_001177712.1:c.-364dup, NM_001177712.1:c.-365_-364dup, XM_024453454.2:c.-365_-364del, XM_024453454.2:c.-364dup, XM_024453454.2:c.-365_-364dup, XM_024453454.1:c.-365_-364del, XM_024453454.1:c.-364dup, XM_024453454.1:c.-365_-364dup, XM_005265062.2:c.-365_-364del, XM_005265062.2:c.-364dup, XM_005265062.2:c.-365_-364dup, XM_005265062.1:c.-365_-364del, XM_005265062.1:c.-364dup, XM_005265062.1:c.-365_-364dup, NM_001330696.1:c.-365_-364del, NM_001330696.1:c.-364dup, NM_001330696.1:c.-365_-364dup
2.
rs1491374996 has merged into rs10627992 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 3:29266976
(GRCh38)
3:29308467
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- RBMS3-AS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.29266966CA[5], NC_000003.12:g.29266966CA[6], NC_000003.12:g.29266966CA[8], NC_000003.12:g.29266966CA[9], NC_000003.12:g.29266966CA[10], NC_000003.12:g.29266966CA[11], NC_000003.12:g.29266966CA[12], NC_000003.12:g.29266966CA[13], NC_000003.12:g.29266966CA[14], NC_000003.12:g.29266966CA[15], NC_000003.12:g.29266966CA[16], NC_000003.12:g.29266966CA[18], NC_000003.12:g.29266966CA[19], NC_000003.12:g.29266966CA[20], NC_000003.12:g.29266966CA[21], NC_000003.12:g.29266966CA[22], NC_000003.12:g.29266966CA[23], NC_000003.12:g.29266966CA[24], NC_000003.12:g.29266966CA[25], NC_000003.12:g.29266966CA[26], NC_000003.12:g.29266966CA[27], NC_000003.11:g.29308457CA[5], NC_000003.11:g.29308457CA[6], NC_000003.11:g.29308457CA[8], NC_000003.11:g.29308457CA[9], NC_000003.11:g.29308457CA[10], NC_000003.11:g.29308457CA[11], NC_000003.11:g.29308457CA[12], NC_000003.11:g.29308457CA[13], NC_000003.11:g.29308457CA[14], NC_000003.11:g.29308457CA[15], NC_000003.11:g.29308457CA[16], NC_000003.11:g.29308457CA[18], NC_000003.11:g.29308457CA[19], NC_000003.11:g.29308457CA[20], NC_000003.11:g.29308457CA[21], NC_000003.11:g.29308457CA[22], NC_000003.11:g.29308457CA[23], NC_000003.11:g.29308457CA[24], NC_000003.11:g.29308457CA[25], NC_000003.11:g.29308457CA[26], NC_000003.11:g.29308457CA[27]
3.
rs1491202351 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GTTTTTTTTTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:29280362
(GRCh38)
3:29321854
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29280362::GTTTTTTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RBMS3 (Varview), RBMS3-AS3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTTTT=0.00021/4
(TOMMO)
- HGVS:
NC_000003.12:g.29280362_29280363insGTTTTTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insGTTTTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491119486 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GC
[Show Flanks]
- Chromosome:
- 3:29266965
(GRCh38)
3:29308457
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29266965:C:CGC
- Gene:
- RBMS3-AS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CGC=0./0
(
ALFA)
CG=0.00082/4
(GnomAD)
- HGVS:
5.
rs1491055496 has merged into rs537903100 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTGGGTAATTGGAGGTTTTTTTAAAAATTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCAAAATGTATTTTTTTTTTAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCTAAATTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCATTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCTAGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:29280375
(GRCh38)
3:29321866
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTAATTGGAGGTTTTTTTAAAAATTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAAAATGTATTTTTTTTTTAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAAATTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RBMS3 (Varview), RBMS3-AS3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0./0
(GENOME_DK)
-=0.000008/2
(TOPMED)
-=0.417931/2093
(1000Genomes)
- HGVS:
NC_000003.12:g.29280375_29280383del, NC_000003.12:g.29280377_29280383del, NC_000003.12:g.29280378_29280383del, NC_000003.12:g.29280379_29280383del, NC_000003.12:g.29280380_29280383del, NC_000003.12:g.29280381_29280383del, NC_000003.12:g.29280382_29280383del, NC_000003.12:g.29280383del, NC_000003.12:g.29280383dup, NC_000003.12:g.29280382_29280383dup, NC_000003.12:g.29280381_29280383dup, NC_000003.12:g.29280380_29280383dup, NC_000003.12:g.29280379_29280383dup, NC_000003.12:g.29280378_29280383dup, NC_000003.12:g.29280377_29280383dup, NC_000003.12:g.29280376_29280383dup, NC_000003.12:g.29280375_29280383dup, NC_000003.12:g.29280374_29280383dup, NC_000003.12:g.29280373_29280383dup, NC_000003.12:g.29280372_29280383dup, NC_000003.12:g.29280371_29280383dup, NC_000003.12:g.29280370_29280383dup, NC_000003.12:g.29280369_29280383dup, NC_000003.12:g.29280364_29280383T[35]GGGTAATTGGAGGTTTTTTTAAAAATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280368_29280383dup, NC_000003.12:g.29280367_29280383dup, NC_000003.12:g.29280364_29280383T[37]CAAAATGTATTTTTTTTTTAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280364_29280383T[37]CTAAATTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280364_29280383T[37]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280366_29280383dup, NC_000003.12:g.29280364_29280383T[38]CATTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280364_29280383T[38]CTAGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280365_29280383dup, NC_000003.12:g.29280364_29280383dup, NC_000003.12:g.29280364_29280383T[40]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280364_29280383T[45]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280364_29280383T[48]GTTTT[2]T[39], NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321866_29321874del, NC_000003.11:g.29321868_29321874del, NC_000003.11:g.29321869_29321874del, NC_000003.11:g.29321870_29321874del, NC_000003.11:g.29321871_29321874del, NC_000003.11:g.29321872_29321874del, NC_000003.11:g.29321873_29321874del, NC_000003.11:g.29321874del, NC_000003.11:g.29321874dup, NC_000003.11:g.29321873_29321874dup, NC_000003.11:g.29321872_29321874dup, NC_000003.11:g.29321871_29321874dup, NC_000003.11:g.29321870_29321874dup, NC_000003.11:g.29321869_29321874dup, NC_000003.11:g.29321868_29321874dup, NC_000003.11:g.29321867_29321874dup, NC_000003.11:g.29321866_29321874dup, NC_000003.11:g.29321865_29321874dup, NC_000003.11:g.29321864_29321874dup, NC_000003.11:g.29321863_29321874dup, NC_000003.11:g.29321862_29321874dup, NC_000003.11:g.29321861_29321874dup, NC_000003.11:g.29321860_29321874dup, NC_000003.11:g.29321855_29321874T[35]GGGTAATTGGAGGTTTTTTTAAAAATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321859_29321874dup, NC_000003.11:g.29321858_29321874dup, NC_000003.11:g.29321855_29321874T[37]CAAAATGTATTTTTTTTTTAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321855_29321874T[37]CTAAATTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321855_29321874T[37]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321857_29321874dup, NC_000003.11:g.29321855_29321874T[38]CATTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321855_29321874T[38]CTAGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321856_29321874dup, NC_000003.11:g.29321855_29321874dup, NC_000003.11:g.29321855_29321874T[40]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321855_29321874T[45]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321855_29321874T[48]GTTTT[2]T[39], NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
6.
rs1491005751 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 3:29267000
(GRCh38)
3:29308491
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29266998:ATA:A
- Gene:
- RBMS3-AS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.005817/69
(
ALFA)
-=0.000142/2
(TOMMO)
-=0.006689/900
(GnomAD)
- HGVS:
7.
rs1490924108 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:29271656
(GRCh38)
3:29313147
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29271655:C:T
- Gene:
- RBMS3-AS3 (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:
8.
rs1490641474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:29264199
(GRCh38)
3:29305690
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29264198:G:C
- Gene:
- RBMS3-AS3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490073426 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:29279926
(GRCh38)
3:29321417
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29279925:A:G
- Gene:
- RBMS3 (Varview), RBMS3-AS3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489875036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:29274864
(GRCh38)
3:29316355
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29274863:C:T
- Gene:
- RBMS3-AS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00016/1
(1000Genomes)
- HGVS:
12.
rs1489778114 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:29272094
(GRCh38)
3:29313585
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29272093:T:C
- Gene:
- RBMS3-AS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
13.
rs1489615658 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 3:29280611
(GRCh38)
3:29322102
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29280610:TTTTTT:TTTTT
- Gene:
- RBMS3 (Varview), RBMS3-AS3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
14.
rs1489579352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:29279496
(GRCh38)
3:29320987
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29279495:A:G
- Gene:
- RBMS3 (Varview), RBMS3-AS3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489473365 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 3:29269875
(GRCh38)
3:29311366
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29269874:G:
- Gene:
- RBMS3-AS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
17.
rs1488975828 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 3:29277234
(GRCh38)
3:29318725
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29277233:G:A,NC_000003.12:29277233:G:T
- Gene:
- RBMS3-AS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1488652599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:29276826
(GRCh38)
3:29318317
(GRCh37)
- Canonical SPDI:
- NC_000003.12:29276825:G:C
- Gene:
- RBMS3-AS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS: