SNP Links for Gene (Select 5933) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915842131.

rs1491584213 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 20:37001918 (GRCh38)
20:35630321 (GRCh37)
Canonical SPDI:: NC_000020.11:37001916:ATA:A
Gene:: RBL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.37001918_37001919del, NC_000020.10:g.35630321_35630322del

Select item 14915639562.

rs1491563956 has merged into rs11361452 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:37004721 (GRCh38)
20:35633124 (GRCh37)
Canonical SPDI:: NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37004714:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RBL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000020.11:g.37004721_37004736del, NC_000020.11:g.37004726_37004736del, NC_000020.11:g.37004729_37004736del, NC_000020.11:g.37004731_37004736del, NC_000020.11:g.37004732_37004736del, NC_000020.11:g.37004733_37004736del, NC_000020.11:g.37004734_37004736del, NC_000020.11:g.37004735_37004736del, NC_000020.11:g.37004736del, NC_000020.11:g.37004736dup, NC_000020.11:g.37004735_37004736dup, NC_000020.11:g.37004734_37004736dup, NC_000020.11:g.37004733_37004736dup, NC_000020.11:g.37004732_37004736dup, NC_000020.11:g.37004731_37004736dup, NC_000020.11:g.37004729_37004736dup, NC_000020.10:g.35633124_35633139del, NC_000020.10:g.35633129_35633139del, NC_000020.10:g.35633132_35633139del, NC_000020.10:g.35633134_35633139del, NC_000020.10:g.35633135_35633139del, NC_000020.10:g.35633136_35633139del, NC_000020.10:g.35633137_35633139del, NC_000020.10:g.35633138_35633139del, NC_000020.10:g.35633139del, NC_000020.10:g.35633139dup, NC_000020.10:g.35633138_35633139dup, NC_000020.10:g.35633137_35633139dup, NC_000020.10:g.35633136_35633139dup, NC_000020.10:g.35633135_35633139dup, NC_000020.10:g.35633134_35633139dup, NC_000020.10:g.35633132_35633139dup

Select item 14915637123.

rs1491563712 has merged into rs1245245162 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:37042919 (GRCh38)
20:35671322 (GRCh37)
Canonical SPDI:: NC_000020.11:37042907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:37042907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:37042907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:37042907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:37042907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:37042907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:37042907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:37042907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37042907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37042907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37042907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37042907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37042907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37042907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.37042919_37042925del, NC_000020.11:g.37042922_37042925del, NC_000020.11:g.37042923_37042925del, NC_000020.11:g.37042924_37042925del, NC_000020.11:g.37042925del, NC_000020.11:g.37042925dup, NC_000020.11:g.37042924_37042925dup, NC_000020.11:g.37042923_37042925dup, NC_000020.11:g.37042922_37042925dup, NC_000020.11:g.37042921_37042925dup, NC_000020.11:g.37042920_37042925dup, NC_000020.11:g.37042919_37042925dup, NC_000020.11:g.37042917_37042925dup, NC_000020.11:g.37042916_37042925dup, NC_000020.10:g.35671322_35671328del, NC_000020.10:g.35671325_35671328del, NC_000020.10:g.35671326_35671328del, NC_000020.10:g.35671327_35671328del, NC_000020.10:g.35671328del, NC_000020.10:g.35671328dup, NC_000020.10:g.35671327_35671328dup, NC_000020.10:g.35671326_35671328dup, NC_000020.10:g.35671325_35671328dup, NC_000020.10:g.35671324_35671328dup, NC_000020.10:g.35671323_35671328dup, NC_000020.10:g.35671322_35671328dup, NC_000020.10:g.35671320_35671328dup, NC_000020.10:g.35671319_35671328dup

Select item 14915254424.

rs1491525442 has merged into rs796643116 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 20:37080474 (GRCh38)
20:35708877 (GRCh37)
Canonical SPDI:: NC_000020.11:37080462:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:37080462:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:37080462:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:37080462:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:37080462:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:37080462:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: RBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.00334/56 (TOMMO)
HGVS:: NC_000020.11:g.37080474_37080476del, NC_000020.11:g.37080475_37080476del, NC_000020.11:g.37080476del, NC_000020.11:g.37080476dup, NC_000020.11:g.37080475_37080476dup, NC_000020.11:g.37080474_37080476dup, NC_000020.10:g.35708877_35708879del, NC_000020.10:g.35708878_35708879del, NC_000020.10:g.35708879del, NC_000020.10:g.35708879dup, NC_000020.10:g.35708878_35708879dup, NC_000020.10:g.35708877_35708879dup

Select item 14914968715.

rs1491496871 has merged into rs1168742059 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAACAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAACAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:37067778 (GRCh38)
20:35696181 (GRCh37)
Canonical SPDI:: NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAACAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067766:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAACAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.37067778_37067791del, NC_000020.11:g.37067780_37067791del, NC_000020.11:g.37067783_37067791del, NC_000020.11:g.37067785_37067791del, NC_000020.11:g.37067786_37067791del, NC_000020.11:g.37067788_37067791del, NC_000020.11:g.37067789_37067791del, NC_000020.11:g.37067790_37067791del, NC_000020.11:g.37067791del, NC_000020.11:g.37067791dup, NC_000020.11:g.37067790_37067791dup, NC_000020.11:g.37067789_37067791dup, NC_000020.11:g.37067788_37067791dup, NC_000020.11:g.37067787_37067791dup, NC_000020.11:g.37067786_37067791dup, NC_000020.11:g.37067785_37067791dup, NC_000020.11:g.37067784_37067791dup, NC_000020.11:g.37067783_37067791dup, NC_000020.11:g.37067782_37067791dup, NC_000020.11:g.37067781_37067791dup, NC_000020.11:g.37067780_37067791dup, NC_000020.11:g.37067778_37067791dup, NC_000020.11:g.37067777_37067791dup, NC_000020.11:g.37067773_37067791dup, NC_000020.11:g.37067772_37067791dup, NC_000020.11:g.37067771_37067791dup, NC_000020.11:g.37067791_37067792insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.37067791_37067792insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.37067791_37067792insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.37067791_37067792insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.37067791_37067792insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.37067767_37067791A[33]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37067767_37067791A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37067767_37067791A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37067767_37067791A[31]CAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37067767_37067791A[30]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37067767_37067791A[30]CAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37067767_37067791A[29]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37067767_37067791A[28]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37067767_37067791A[28]CAA[2]A[25], NC_000020.11:g.37067767_37067791A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37067767_37067791A[27]CAA[2]A[28], NC_000020.10:g.35696181_35696194del, NC_000020.10:g.35696183_35696194del, NC_000020.10:g.35696186_35696194del, NC_000020.10:g.35696188_35696194del, NC_000020.10:g.35696189_35696194del, NC_000020.10:g.35696191_35696194del, NC_000020.10:g.35696192_35696194del, NC_000020.10:g.35696193_35696194del, NC_000020.10:g.35696194del, NC_000020.10:g.35696194dup, NC_000020.10:g.35696193_35696194dup, NC_000020.10:g.35696192_35696194dup, NC_000020.10:g.35696191_35696194dup, NC_000020.10:g.35696190_35696194dup, NC_000020.10:g.35696189_35696194dup, NC_000020.10:g.35696188_35696194dup, NC_000020.10:g.35696187_35696194dup, NC_000020.10:g.35696186_35696194dup, NC_000020.10:g.35696185_35696194dup, NC_000020.10:g.35696184_35696194dup, NC_000020.10:g.35696183_35696194dup, NC_000020.10:g.35696181_35696194dup, NC_000020.10:g.35696180_35696194dup, NC_000020.10:g.35696176_35696194dup, NC_000020.10:g.35696175_35696194dup, NC_000020.10:g.35696174_35696194dup, NC_000020.10:g.35696194_35696195insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.35696194_35696195insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.35696194_35696195insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.35696194_35696195insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.35696194_35696195insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.35696170_35696194A[33]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35696170_35696194A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35696170_35696194A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35696170_35696194A[31]CAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35696170_35696194A[30]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35696170_35696194A[30]CAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35696170_35696194A[29]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35696170_35696194A[28]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35696170_35696194A[28]CAA[2]A[25], NC_000020.10:g.35696170_35696194A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35696170_35696194A[27]CAA[2]A[28]

Select item 14914870746.

rs1491487074 has merged into rs36003402 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATGTAT [Show Flanks]
Chromosome:: 20:37010760 (GRCh38)
20:35639163 (GRCh37)
Canonical SPDI:: NC_000020.11:37010758:TAT:T,NC_000020.11:37010758:TAT:TATAT,NC_000020.11:37010758:TAT:TATATAT,NC_000020.11:37010758:TAT:TATATGTAT
Gene:: RBL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATAT=0./0 (ALFA)
TATA=0.000034/9 (TOPMED)
-=0.036991/149 (1000Genomes)
TA=0.15/6 (GENOME_DK)
TA=0.19/114 (NorthernSweden)
HGVS:: NC_000020.11:g.37010760_37010761del, NC_000020.11:g.37010760_37010761dup, NC_000020.11:g.37010760AT[3], NC_000020.11:g.37010759_37010761TA[2]TGTAT[1], NC_000020.10:g.35639163_35639164del, NC_000020.10:g.35639163_35639164dup, NC_000020.10:g.35639163AT[3], NC_000020.10:g.35639162_35639164TA[2]TGTAT[1]

Select item 14914634957.

rs1491463495 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14914056258.

rs1491405625 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:37004714 (GRCh38)
20:35633117 (GRCh37)
Canonical SPDI:: NC_000020.11:37004713:CA:
Gene:: RBL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
-=0.00114/32 (TOMMO)
HGVS:: NC_000020.11:g.37004714_37004715del, NC_000020.10:g.35633117_35633118del

Select item 14913670279.

rs1491367027 has merged into rs1460405316 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 20:37042903 (GRCh38)
20:35671306 (GRCh37)
Canonical SPDI:: NC_000020.11:37042895:CCCCCCCCC:CCCCCCC,NC_000020.11:37042895:CCCCCCCCC:CCCCCCCC,NC_000020.11:37042895:CCCCCCCCC:CCCCCCCCCC,NC_000020.11:37042895:CCCCCCCCC:CCCCCCCCCCC,NC_000020.11:37042895:CCCCCCCCC:CCCCCCCCCCCC
Gene:: RBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0./0 (ALFA)
C=0.03288/58 (Korea1K)
HGVS:: NC_000020.11:g.37042903_37042904del, NC_000020.11:g.37042904del, NC_000020.11:g.37042904dup, NC_000020.11:g.37042903_37042904dup, NC_000020.11:g.37042902_37042904dup, NC_000020.10:g.35671306_35671307del, NC_000020.10:g.35671307del, NC_000020.10:g.35671307dup, NC_000020.10:g.35671306_35671307dup, NC_000020.10:g.35671305_35671307dup

Select item 149135106210.

rs1491351062 has merged into rs371434822 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:37067145 (GRCh38)
20:35695548 (GRCh37)
Canonical SPDI:: NC_000020.11:37067132:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:37067132:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:37067132:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:37067132:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:37067132:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:37067132:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:37067132:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37067132:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000020.11:g.37067145_37067148del, NC_000020.11:g.37067146_37067148del, NC_000020.11:g.37067147_37067148del, NC_000020.11:g.37067148del, NC_000020.11:g.37067148dup, NC_000020.11:g.37067147_37067148dup, NC_000020.11:g.37067141_37067148dup, NC_000020.11:g.37067136_37067148dup, NC_000020.10:g.35695548_35695551del, NC_000020.10:g.35695549_35695551del, NC_000020.10:g.35695550_35695551del, NC_000020.10:g.35695551del, NC_000020.10:g.35695551dup, NC_000020.10:g.35695550_35695551dup, NC_000020.10:g.35695544_35695551dup, NC_000020.10:g.35695539_35695551dup

Select item 149134558211.

rs1491345582 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:37001943 (GRCh38)
20:35630346 (GRCh37)
Canonical SPDI:: NC_000020.11:37001941:ACA:A
Gene:: RBL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.37001943_37001944del, NC_000020.10:g.35630346_35630347del

Select item 149133850612.

rs1491338506 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:37001917 (GRCh38)
20:35630321 (GRCh37)
Canonical SPDI:: NC_000020.11:37001917:T:TT
Gene:: RBL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.001718/11 (1000Genomes)
T=0.002817/311 (GnomAD)
HGVS:: NC_000020.11:g.37001918dup, NC_000020.10:g.35630321dup

Select item 149129983113.

rs1491299831 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAAAAAAT,AAAC,AAC,AC [Show Flanks]
Chromosome:: 20:37001942 (GRCh38)
20:35630346 (GRCh37)
Canonical SPDI:: NC_000020.11:37001942::AAAAAAAAAT,NC_000020.11:37001942::AAAC,NC_000020.11:37001942::AAC,NC_000020.11:37001942::AC
Gene:: RBL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
AAC=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.37001942_37001943insAAAAAAAAAT, NC_000020.11:g.37001942_37001943insAAAC, NC_000020.11:g.37001942_37001943insAAC, NC_000020.11:g.37001942_37001943insAC, NC_000020.10:g.35630345_35630346insAAAAAAAAAT, NC_000020.10:g.35630345_35630346insAAAC, NC_000020.10:g.35630345_35630346insAAC, NC_000020.10:g.35630345_35630346insAC

Select item 149124822014.

rs1491248220 has merged into rs71186100 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:37042081 (GRCh38)
20:35670484 (GRCh37)
Canonical SPDI:: NC_000020.11:37042072:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000020.11:37042072:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:37042072:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:37042072:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:37042072:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:37042072:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:37042072:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:37042072:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:37042072:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:37042072:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:37042072:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37042072:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37042072:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37042072:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37042072:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000020.11:g.37042081_37042091del, NC_000020.11:g.37042082_37042091del, NC_000020.11:g.37042083_37042091del, NC_000020.11:g.37042085_37042091del, NC_000020.11:g.37042086_37042091del, NC_000020.11:g.37042088_37042091del, NC_000020.11:g.37042089_37042091del, NC_000020.11:g.37042090_37042091del, NC_000020.11:g.37042091del, NC_000020.11:g.37042091dup, NC_000020.11:g.37042090_37042091dup, NC_000020.11:g.37042089_37042091dup, NC_000020.11:g.37042088_37042091dup, NC_000020.11:g.37042086_37042091dup, NC_000020.11:g.37042085_37042091dup, NC_000020.10:g.35670484_35670494del, NC_000020.10:g.35670485_35670494del, NC_000020.10:g.35670486_35670494del, NC_000020.10:g.35670488_35670494del, NC_000020.10:g.35670489_35670494del, NC_000020.10:g.35670491_35670494del, NC_000020.10:g.35670492_35670494del, NC_000020.10:g.35670493_35670494del, NC_000020.10:g.35670494del, NC_000020.10:g.35670494dup, NC_000020.10:g.35670493_35670494dup, NC_000020.10:g.35670492_35670494dup, NC_000020.10:g.35670491_35670494dup, NC_000020.10:g.35670489_35670494dup, NC_000020.10:g.35670488_35670494dup

Select item 149124782315.

rs1491247823 has merged into rs1184794374 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:37014097 (GRCh38)
20:35642500 (GRCh37)
Canonical SPDI:: NC_000020.11:37014085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:37014085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:37014085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:37014085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:37014085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:37014085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:37014085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:37014085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:37014085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37014085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37014085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37014085:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RBL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TTTTTTTTTTTTTTTTTTTTTTT=0.003344/2 (NorthernSweden)
HGVS:: NC_000020.11:g.37014097_37014103del, NC_000020.11:g.37014099_37014103del, NC_000020.11:g.37014100_37014103del, NC_000020.11:g.37014101_37014103del, NC_000020.11:g.37014102_37014103del, NC_000020.11:g.37014103del, NC_000020.11:g.37014103dup, NC_000020.11:g.37014102_37014103dup, NC_000020.11:g.37014101_37014103dup, NC_000020.11:g.37014100_37014103dup, NC_000020.11:g.37014099_37014103dup, NC_000020.11:g.37014103_37014104insTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35642500_35642506del, NC_000020.10:g.35642502_35642506del, NC_000020.10:g.35642503_35642506del, NC_000020.10:g.35642504_35642506del, NC_000020.10:g.35642505_35642506del, NC_000020.10:g.35642506del, NC_000020.10:g.35642506dup, NC_000020.10:g.35642505_35642506dup, NC_000020.10:g.35642504_35642506dup, NC_000020.10:g.35642503_35642506dup, NC_000020.10:g.35642502_35642506dup, NC_000020.10:g.35642506_35642507insTTTTTTTTTTTTTTTTTTTTTTT

Select item 149123783516.

rs1491237835 has merged into rs1202673380 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:37085659 (GRCh38)
20:35714062 (GRCh37)
Canonical SPDI:: NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37085647:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RBL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.37085659_37085671del, NC_000020.11:g.37085660_37085671del, NC_000020.11:g.37085661_37085671del, NC_000020.11:g.37085662_37085671del, NC_000020.11:g.37085663_37085671del, NC_000020.11:g.37085665_37085671del, NC_000020.11:g.37085666_37085671del, NC_000020.11:g.37085667_37085671del, NC_000020.11:g.37085668_37085671del, NC_000020.11:g.37085670_37085671del, NC_000020.11:g.37085671del, NC_000020.11:g.37085671dup, NC_000020.11:g.37085670_37085671dup, NC_000020.11:g.37085669_37085671dup, NC_000020.11:g.37085668_37085671dup, NC_000020.11:g.37085667_37085671dup, NC_000020.11:g.37085666_37085671dup, NC_000020.11:g.37085665_37085671dup, NC_000020.11:g.37085664_37085671dup, NC_000020.11:g.37085663_37085671dup, NC_000020.11:g.37085662_37085671dup, NC_000020.11:g.37085661_37085671dup, NC_000020.11:g.37085660_37085671dup, NC_000020.11:g.37085659_37085671dup, NC_000020.11:g.37085658_37085671dup, NC_000020.11:g.37085657_37085671dup, NC_000020.11:g.37085656_37085671dup, NC_000020.11:g.37085653_37085671dup, NC_000020.11:g.37085651_37085671dup, NC_000020.11:g.37085671_37085672insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37085671_37085672insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37085671_37085672insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37085671_37085672insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37085671_37085672insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37085671_37085672insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35714062_35714074del, NC_000020.10:g.35714063_35714074del, NC_000020.10:g.35714064_35714074del, NC_000020.10:g.35714065_35714074del, NC_000020.10:g.35714066_35714074del, NC_000020.10:g.35714068_35714074del, NC_000020.10:g.35714069_35714074del, NC_000020.10:g.35714070_35714074del, NC_000020.10:g.35714071_35714074del, NC_000020.10:g.35714073_35714074del, NC_000020.10:g.35714074del, NC_000020.10:g.35714074dup, NC_000020.10:g.35714073_35714074dup, NC_000020.10:g.35714072_35714074dup, NC_000020.10:g.35714071_35714074dup, NC_000020.10:g.35714070_35714074dup, NC_000020.10:g.35714069_35714074dup, NC_000020.10:g.35714068_35714074dup, NC_000020.10:g.35714067_35714074dup, NC_000020.10:g.35714066_35714074dup, NC_000020.10:g.35714065_35714074dup, NC_000020.10:g.35714064_35714074dup, NC_000020.10:g.35714063_35714074dup, NC_000020.10:g.35714062_35714074dup, NC_000020.10:g.35714061_35714074dup, NC_000020.10:g.35714060_35714074dup, NC_000020.10:g.35714059_35714074dup, NC_000020.10:g.35714056_35714074dup, NC_000020.10:g.35714054_35714074dup, NC_000020.10:g.35714074_35714075insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35714074_35714075insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35714074_35714075insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35714074_35714075insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35714074_35714075insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35714074_35714075insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149123341717.

rs1491233417 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 20:37074437 (GRCh38)
20:35702840 (GRCh37)
Canonical SPDI:: NC_000020.11:37074436:AA:
Gene:: RBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000023/3 (GnomAD)
HGVS:: NC_000020.11:g.37074437_37074438del, NC_000020.10:g.35702840_35702841del

Select item 149121114618.

rs1491211146 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:37080463 (GRCh38)
20:35708867 (GRCh37)
Canonical SPDI:: NC_000020.11:37080463::C
Gene:: RBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001096/13 (ALFA)
C=0.000894/113 (GnomAD)
HGVS:: NC_000020.11:g.37080463_37080464insC, NC_000020.10:g.35708866_35708867insC

Select item 149120975719.

rs1491209757 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CC [Show Flanks]
Chromosome:: 20:37042908 (GRCh38)
20:35671312 (GRCh37)
Canonical SPDI:: NC_000020.11:37042908::C,NC_000020.11:37042908::CC
Gene:: RBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
CC=0.000009/1 (GnomAD)
HGVS:: NC_000020.11:g.37042908_37042909insC, NC_000020.11:g.37042908_37042909insCC, NC_000020.10:g.35671311_35671312insC, NC_000020.10:g.35671311_35671312insCC

Select item 149117055320.

rs1491170553 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->G
Chromosome:: no mapping
Canonical SPDI:

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity