SNP Links for Gene (Select 29110) - SNP

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Select item 14915310381.

rs1491531038 has merged into rs56725684 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:64499704 (GRCh38)
12:64893484 (GRCh37)
Canonical SPDI:: NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499693:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TBK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000012.12:g.64499704_64499716del, NC_000012.12:g.64499705_64499716del, NC_000012.12:g.64499706_64499716del, NC_000012.12:g.64499707_64499716del, NC_000012.12:g.64499708_64499716del, NC_000012.12:g.64499709_64499716del, NC_000012.12:g.64499710_64499716del, NC_000012.12:g.64499712_64499716del, NC_000012.12:g.64499714_64499716del, NC_000012.12:g.64499715_64499716del, NC_000012.12:g.64499716del, NC_000012.12:g.64499716dup, NC_000012.12:g.64499715_64499716dup, NC_000012.12:g.64499714_64499716dup, NC_000012.12:g.64499713_64499716dup, NC_000012.12:g.64499712_64499716dup, NC_000012.12:g.64499711_64499716dup, NC_000012.12:g.64499710_64499716dup, NC_000012.12:g.64499709_64499716dup, NC_000012.12:g.64499708_64499716dup, NC_000012.12:g.64499707_64499716dup, NC_000012.12:g.64499705_64499716dup, NC_000012.12:g.64499704_64499716dup, NC_000012.12:g.64499702_64499716dup, NC_000012.12:g.64499699_64499716dup, NC_000012.11:g.64893484_64893496del, NC_000012.11:g.64893485_64893496del, NC_000012.11:g.64893486_64893496del, NC_000012.11:g.64893487_64893496del, NC_000012.11:g.64893488_64893496del, NC_000012.11:g.64893489_64893496del, NC_000012.11:g.64893490_64893496del, NC_000012.11:g.64893492_64893496del, NC_000012.11:g.64893494_64893496del, NC_000012.11:g.64893495_64893496del, NC_000012.11:g.64893496del, NC_000012.11:g.64893496dup, NC_000012.11:g.64893495_64893496dup, NC_000012.11:g.64893494_64893496dup, NC_000012.11:g.64893493_64893496dup, NC_000012.11:g.64893492_64893496dup, NC_000012.11:g.64893491_64893496dup, NC_000012.11:g.64893490_64893496dup, NC_000012.11:g.64893489_64893496dup, NC_000012.11:g.64893488_64893496dup, NC_000012.11:g.64893487_64893496dup, NC_000012.11:g.64893485_64893496dup, NC_000012.11:g.64893484_64893496dup, NC_000012.11:g.64893482_64893496dup, NC_000012.11:g.64893479_64893496dup, NG_046906.1:g.52645_52657del, NG_046906.1:g.52646_52657del, NG_046906.1:g.52647_52657del, NG_046906.1:g.52648_52657del, NG_046906.1:g.52649_52657del, NG_046906.1:g.52650_52657del, NG_046906.1:g.52651_52657del, NG_046906.1:g.52653_52657del, NG_046906.1:g.52655_52657del, NG_046906.1:g.52656_52657del, NG_046906.1:g.52657del, NG_046906.1:g.52657dup, NG_046906.1:g.52656_52657dup, NG_046906.1:g.52655_52657dup, NG_046906.1:g.52654_52657dup, NG_046906.1:g.52653_52657dup, NG_046906.1:g.52652_52657dup, NG_046906.1:g.52651_52657dup, NG_046906.1:g.52650_52657dup, NG_046906.1:g.52649_52657dup, NG_046906.1:g.52648_52657dup, NG_046906.1:g.52646_52657dup, NG_046906.1:g.52645_52657dup, NG_046906.1:g.52643_52657dup, NG_046906.1:g.52640_52657dup

Select item 14915281652.

rs1491528165 has merged into rs763709411 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:64499047 (GRCh38)
12:64892827 (GRCh37)
Canonical SPDI:: NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:64499037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TBK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.64499047_64499058del, NC_000012.12:g.64499049_64499058del, NC_000012.12:g.64499050_64499058del, NC_000012.12:g.64499051_64499058del, NC_000012.12:g.64499052_64499058del, NC_000012.12:g.64499053_64499058del, NC_000012.12:g.64499054_64499058del, NC_000012.12:g.64499055_64499058del, NC_000012.12:g.64499056_64499058del, NC_000012.12:g.64499057_64499058del, NC_000012.12:g.64499058del, NC_000012.12:g.64499058dup, NC_000012.12:g.64499057_64499058dup, NC_000012.12:g.64499056_64499058dup, NC_000012.12:g.64499055_64499058dup, NC_000012.12:g.64499054_64499058dup, NC_000012.12:g.64499053_64499058dup, NC_000012.12:g.64499052_64499058dup, NC_000012.12:g.64499051_64499058dup, NC_000012.12:g.64499048_64499058dup, NC_000012.12:g.64499047_64499058dup, NC_000012.12:g.64499045_64499058dup, NC_000012.12:g.64499043_64499058dup, NC_000012.12:g.64499042_64499058dup, NC_000012.12:g.64499058_64499059insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.64892827_64892838del, NC_000012.11:g.64892829_64892838del, NC_000012.11:g.64892830_64892838del, NC_000012.11:g.64892831_64892838del, NC_000012.11:g.64892832_64892838del, NC_000012.11:g.64892833_64892838del, NC_000012.11:g.64892834_64892838del, NC_000012.11:g.64892835_64892838del, NC_000012.11:g.64892836_64892838del, NC_000012.11:g.64892837_64892838del, NC_000012.11:g.64892838del, NC_000012.11:g.64892838dup, NC_000012.11:g.64892837_64892838dup, NC_000012.11:g.64892836_64892838dup, NC_000012.11:g.64892835_64892838dup, NC_000012.11:g.64892834_64892838dup, NC_000012.11:g.64892833_64892838dup, NC_000012.11:g.64892832_64892838dup, NC_000012.11:g.64892831_64892838dup, NC_000012.11:g.64892828_64892838dup, NC_000012.11:g.64892827_64892838dup, NC_000012.11:g.64892825_64892838dup, NC_000012.11:g.64892823_64892838dup, NC_000012.11:g.64892822_64892838dup, NC_000012.11:g.64892838_64892839insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046906.1:g.51988_51999del, NG_046906.1:g.51990_51999del, NG_046906.1:g.51991_51999del, NG_046906.1:g.51992_51999del, NG_046906.1:g.51993_51999del, NG_046906.1:g.51994_51999del, NG_046906.1:g.51995_51999del, NG_046906.1:g.51996_51999del, NG_046906.1:g.51997_51999del, NG_046906.1:g.51998_51999del, NG_046906.1:g.51999del, NG_046906.1:g.51999dup, NG_046906.1:g.51998_51999dup, NG_046906.1:g.51997_51999dup, NG_046906.1:g.51996_51999dup, NG_046906.1:g.51995_51999dup, NG_046906.1:g.51994_51999dup, NG_046906.1:g.51993_51999dup, NG_046906.1:g.51992_51999dup, NG_046906.1:g.51989_51999dup, NG_046906.1:g.51988_51999dup, NG_046906.1:g.51986_51999dup, NG_046906.1:g.51984_51999dup, NG_046906.1:g.51983_51999dup, NG_046906.1:g.51999_52000insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914129623.

rs1491412962 has merged into rs113080890 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 12:64463390 (GRCh38)
12:64857170 (GRCh37)
Canonical SPDI:: NC_000012.12:64463379:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:64463379:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:64463379:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:64463379:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:64463379:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:64463379:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: TBK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.12369/71 (NorthernSweden)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000012.12:g.64463390_64463393del, NC_000012.12:g.64463391_64463393del, NC_000012.12:g.64463392_64463393del, NC_000012.12:g.64463393del, NC_000012.12:g.64463393dup, NC_000012.12:g.64463392_64463393dup, NC_000012.11:g.64857170_64857173del, NC_000012.11:g.64857171_64857173del, NC_000012.11:g.64857172_64857173del, NC_000012.11:g.64857173del, NC_000012.11:g.64857173dup, NC_000012.11:g.64857172_64857173dup, NG_046906.1:g.16331_16334del, NG_046906.1:g.16332_16334del, NG_046906.1:g.16333_16334del, NG_046906.1:g.16334del, NG_046906.1:g.16334dup, NG_046906.1:g.16333_16334dup

Select item 14914032724.

rs1491403272 has merged into rs61344644 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 12:64468505 (GRCh38)
12:64862285 (GRCh37)
Canonical SPDI:: NC_000012.12:64468492:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:64468492:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:64468492:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:64468492:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:64468492:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: TBK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
A=0.000239/4 (TOMMO)
A=0.000625/4 (1000Genomes)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000012.12:g.64468505_64468507del, NC_000012.12:g.64468506_64468507del, NC_000012.12:g.64468507del, NC_000012.12:g.64468507dup, NC_000012.12:g.64468506_64468507dup, NC_000012.11:g.64862285_64862287del, NC_000012.11:g.64862286_64862287del, NC_000012.11:g.64862287del, NC_000012.11:g.64862287dup, NC_000012.11:g.64862286_64862287dup, NG_046906.1:g.21446_21448del, NG_046906.1:g.21447_21448del, NG_046906.1:g.21448del, NG_046906.1:g.21448dup, NG_046906.1:g.21447_21448dup

Select item 14913751905.

rs1491375190 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 12:64499038 (GRCh38)
12:64892819 (GRCh37)
Canonical SPDI:: NC_000012.12:64499038:TT:TTCTT
Gene:: TBK1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
TTC=0.00017/1 (GnomAD)
HGVS:: NC_000012.12:g.64499040_64499041insCTT, NC_000012.11:g.64892820_64892821insCTT, NG_046906.1:g.51981_51982insCTT

Select item 14913726226.

rs1491372622 [Homo sapiens]

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

Select item 14912445477.

rs1491244547 has merged into rs918570851 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:64450159 (GRCh38)
12:64843939 (GRCh37)
Canonical SPDI:: NC_000012.12:64450153:TTTTTTTTT:TTTTT,NC_000012.12:64450153:TTTTTTTTT:TTTTTT,NC_000012.12:64450153:TTTTTTTTT:TTTTTTT,NC_000012.12:64450153:TTTTTTTTT:TTTTTTTT,NC_000012.12:64450153:TTTTTTTTT:TTTTTTTTTT,NC_000012.12:64450153:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: XPOT (Varview), TBK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.64450159_64450162del, NC_000012.12:g.64450160_64450162del, NC_000012.12:g.64450161_64450162del, NC_000012.12:g.64450162del, NC_000012.12:g.64450162dup, NC_000012.12:g.64450162_64450163insTTTTTTTTTTT, NC_000012.11:g.64843939_64843942del, NC_000012.11:g.64843940_64843942del, NC_000012.11:g.64843941_64843942del, NC_000012.11:g.64843942del, NC_000012.11:g.64843942dup, NC_000012.11:g.64843942_64843943insTTTTTTTTTTT, NG_046906.1:g.3100_3103del, NG_046906.1:g.3101_3103del, NG_046906.1:g.3102_3103del, NG_046906.1:g.3103del, NG_046906.1:g.3103dup, NG_046906.1:g.3103_3104insTTTTTTTTTTT, NM_007235.6:c.*2028_*2031del, NM_007235.6:c.*2029_*2031del, NM_007235.6:c.*2030_*2031del, NM_007235.6:c.*2031del, NM_007235.6:c.*2031dup, NM_007235.6:c.*2031_*2032insTTTTTTTTTTT, NM_007235.5:c.*2028_*2031del, NM_007235.5:c.*2029_*2031del, NM_007235.5:c.*2030_*2031del, NM_007235.5:c.*2031del, NM_007235.5:c.*2031dup, NM_007235.5:c.*2031_*2032insTTTTTTTTTTT, XM_017018748.2:c.*2028_*2031del, XM_017018748.2:c.*2029_*2031del, XM_017018748.2:c.*2030_*2031del, XM_017018748.2:c.*2031del, XM_017018748.2:c.*2031dup, XM_017018748.2:c.*2031_*2032insTTTTTTTTTTT, XM_017018748.1:c.*2028_*2031del, XM_017018748.1:c.*2029_*2031del, XM_017018748.1:c.*2030_*2031del, XM_017018748.1:c.*2031del, XM_017018748.1:c.*2031dup, XM_017018748.1:c.*2031_*2032insTTTTTTTTTTT, XM_047428193.1:c.*2028_*2031del, XM_047428193.1:c.*2029_*2031del, XM_047428193.1:c.*2030_*2031del, XM_047428193.1:c.*2031del, XM_047428193.1:c.*2031dup, XM_047428193.1:c.*2031_*2032insTTTTTTTTTTT, XM_047428195.1:c.*2028_*2031del, XM_047428195.1:c.*2029_*2031del, XM_047428195.1:c.*2030_*2031del, XM_047428195.1:c.*2031del, XM_047428195.1:c.*2031dup, XM_047428195.1:c.*2031_*2032insTTTTTTTTTTT

Select item 14911513588.

rs1491151358 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:64450153 (GRCh38)
12:64843933 (GRCh37)
Canonical SPDI:: NC_000012.12:64450152:CT:
Gene:: XPOT (Varview), TBK1 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.64450153_64450154del, NC_000012.11:g.64843933_64843934del, NG_046906.1:g.3094_3095del, NM_007235.6:c.*2022_*2023del, NM_007235.5:c.*2022_*2023del, XM_017018748.2:c.*2022_*2023del, XM_017018748.1:c.*2022_*2023del, XM_047428193.1:c.*2022_*2023del, XM_047428195.1:c.*2022_*2023del

Select item 14910919259.

rs1491091925 has merged into rs150489787 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 12:64466750 (GRCh38)
12:64860530 (GRCh37)
Canonical SPDI:: NC_000012.12:64466738:TATATATATATAT:TATATATATAT,NC_000012.12:64466738:TATATATATATAT:TATATATATATATAT,NC_000012.12:64466738:TATATATATATAT:TATATATATATATATAT
Gene:: TBK1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
TA=0.00463/1 (Vietnamese)
TA=0.033937/569 (TOMMO)
TA=0.111222/111 (GoNL)
TA=0.128348/575 (Estonian)
TA=0.13139/658 (1000Genomes)
TA=0.14766/39084 (TOPMED)
TA=0.157895/6 (GENOME_DK)
TA=0.168333/101 (NorthernSweden)
HGVS:: NC_000012.12:g.64466740AT[5], NC_000012.12:g.64466740AT[7], NC_000012.12:g.64466740AT[8], NC_000012.11:g.64860520AT[5], NC_000012.11:g.64860520AT[7], NC_000012.11:g.64860520AT[8], NG_046906.1:g.19681AT[5], NG_046906.1:g.19681AT[7], NG_046906.1:g.19681AT[8]

Select item 149108673110.

rs1491086731 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 12:64497622 (GRCh38)
12:64891403 (GRCh37)
Canonical SPDI:: NC_000012.12:64497622:TT:TTCTT
Gene:: TBK1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000012.12:g.64497624_64497625insCTT, NC_000012.11:g.64891404_64891405insCTT, NG_046906.1:g.50565_50566insCTT

Select item 149104397211.

rs1491043972 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:64458122 (GRCh38)
12:64851902 (GRCh37)
Canonical SPDI:: NC_000012.12:64458120:ATA:A
Gene:: TBK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000169/2 (ALFA)
-=0.000177/5 (TOMMO)
-=0.000195/24 (GnomAD)
HGVS:: NC_000012.12:g.64458122_64458123del, NC_000012.11:g.64851902_64851903del, NG_046906.1:g.11063_11064del

Select item 149085533912.

rs1490855339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:64457975 (GRCh38)
12:64851755 (GRCh37)
Canonical SPDI:: NC_000012.12:64457974:G:T
Gene:: TBK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.64457975G>T, NC_000012.11:g.64851755G>T, NG_046906.1:g.10916G>T

Select item 149077036313.

rs1490770363 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:64501048 (GRCh38)
12:64894828 (GRCh37)
Canonical SPDI:: NC_000012.12:64501047:T:C
Gene:: TBK1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.64501048T>C, NC_000012.11:g.64894828T>C, NG_046906.1:g.53989T>C

Select item 149072048614.

rs1490720486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:64476178 (GRCh38)
12:64869958 (GRCh37)
Canonical SPDI:: NC_000012.12:64476177:G:T
Gene:: TBK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00572/95 (TOMMO)
HGVS:: NC_000012.12:g.64476178G>T, NC_000012.11:g.64869958G>T, NG_046906.1:g.29119G>T

Select item 149065538415.

rs1490655384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:64474203 (GRCh38)
12:64867983 (GRCh37)
Canonical SPDI:: NC_000012.12:64474202:A:T
Gene:: TBK1 (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:: NC_000012.12:g.64474203A>T, NC_000012.11:g.64867983A>T, NG_046906.1:g.27144A>T

Select item 149065148416.

rs1490651484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:64459733 (GRCh38)
12:64853513 (GRCh37)
Canonical SPDI:: NC_000012.12:64459732:T:C
Gene:: TBK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.64459733T>C, NC_000012.11:g.64853513T>C, NG_046906.1:g.12674T>C

Select item 149043876317.

rs1490438763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:64452005 (GRCh38)
12:64845785 (GRCh37)
Canonical SPDI:: NC_000012.12:64452004:G:T
Gene:: TBK1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.64452005G>T, NC_000012.11:g.64845785G>T, NG_046906.1:g.4946G>T

Select item 149040807918.

rs1490408079 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTTT>- [Show Flanks]
Chromosome:: 12:64492897 (GRCh38)
12:64886677 (GRCh37)
Canonical SPDI:: NC_000012.12:64492893:TTTGTTTT:TTT
Gene:: TBK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000012.12:g.64492897_64492901del, NC_000012.11:g.64886677_64886681del, NG_046906.1:g.45838_45842del

Select item 149038020319.

rs1490380203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:64454912 (GRCh38)
12:64848692 (GRCh37)
Canonical SPDI:: NC_000012.12:64454911:C:T
Gene:: TBK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/4 (GnomAD)
T=0.000709/20 (TOMMO)
T=0.01645/48 (KOREAN)
HGVS:: NC_000012.12:g.64454912C>T, NC_000012.11:g.64848692C>T, NG_046906.1:g.7853C>T

Select item 149036465320.

rs1490364653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:64456838 (GRCh38)
12:64850618 (GRCh37)
Canonical SPDI:: NC_000012.12:64456837:T:A
Gene:: TBK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.0006/17 (TOMMO)
HGVS:: NC_000012.12:g.64456838T>A, NC_000012.11:g.64850618T>A, NG_046906.1:g.9779T>A

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