SNP Links for Nucleotide (Select 556503456) - SNP

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Select item 14913188371.

rs1491318837 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:62612894 (GRCh38)
17:60690255 (GRCh37)
Canonical SPDI:: NC_000017.11:62612893:AG:
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.62612894_62612895del, NC_000017.10:g.60690255_60690256del, NM_006852.6:c.*329_*330del, NM_006852.5:c.*329_*330del, NM_006852.4:c.*329_*330del, NM_006852.3:c.*329_*330del, XM_011524222.4:c.*329_*330del, XM_011524222.3:c.*329_*330del, XM_011524222.2:c.*329_*330del, XM_011524222.1:c.*329_*330del, XM_011524223.4:c.*329_*330del, XM_011524223.3:c.*329_*330del, XM_011524223.2:c.*329_*330del, XM_011524223.1:c.*329_*330del, XM_017024048.3:c.*329_*330del, XM_017024048.2:c.*329_*330del, XM_017024048.1:c.*329_*330del, XM_017024049.3:c.*329_*330del, XM_017024049.2:c.*329_*330del, XM_017024049.1:c.*329_*330del, XM_017024051.3:c.*329_*330del, XM_017024051.2:c.*329_*330del, XM_017024051.1:c.*329_*330del, XM_011524216.3:c.*329_*330del, XM_011524216.2:c.*329_*330del, XM_011524216.1:c.*329_*330del, XM_017024054.3:c.*329_*330del, XM_017024054.2:c.*329_*330del, XM_017024054.1:c.*329_*330del, XM_011524221.3:c.*329_*330del, XM_011524221.2:c.*329_*330del, XM_011524221.1:c.*329_*330del, NM_001284333.3:c.*329_*330del, NM_001284333.2:c.*329_*330del, NM_001284333.1:c.*329_*330del, NM_001330418.3:c.*329_*330del, NM_001330418.2:c.*329_*330del, NM_001330418.1:c.*329_*330del, XM_017024055.3:c.*329_*330del, XM_017024055.2:c.*329_*330del, XM_017024055.1:c.*329_*330del, XM_017024053.3:c.*329_*330del, XM_017024053.2:c.*329_*330del, XM_017024053.1:c.*329_*330del, XM_011524215.3:c.*329_*330del, XM_011524215.2:c.*329_*330del, XM_011524215.1:c.*329_*330del, XM_011524226.3:c.*329_*330del, XM_011524226.2:c.*329_*330del, XM_011524226.1:c.*329_*330del, XM_011524218.3:c.*329_*330del, XM_011524218.2:c.*329_*330del, XM_011524218.1:c.*329_*330del, XM_011524227.3:c.*329_*330del, XM_011524227.2:c.*329_*330del, XM_011524227.1:c.*329_*330del, XM_011524220.3:c.*329_*330del, XM_011524220.2:c.*329_*330del, XM_011524220.1:c.*329_*330del, XM_024450553.2:c.*329_*330del, XM_024450553.1:c.*329_*330del, XM_024450552.2:c.*329_*330del, XM_024450552.1:c.*329_*330del, XM_017024044.2:c.*329_*330del, XM_017024044.1:c.*329_*330del, XM_017024050.2:c.*329_*330del, XM_017024050.1:c.*329_*330del, XM_047435186.1:c.*329_*330del, NM_001375273.1:c.*329_*330del, NM_001375270.1:c.*329_*330del, NM_001375272.1:c.*329_*330del, XM_047435179.1:c.*329_*330del, NM_001375271.1:c.*329_*330del, XM_047435180.1:c.*329_*330del, XM_047435174.1:c.*329_*330del, XM_047435175.1:c.*329_*330del, XM_047435188.1:c.*329_*330del, NM_001411074.1:c.*329_*330del, XM_047435182.1:c.*329_*330del, XM_047435176.1:c.*329_*330del, NM_001112707.1:c.*329_*330del, XM_047435183.1:c.*329_*330del, XM_047435177.1:c.*329_*330del, XM_047435185.1:c.*329_*330del, XM_047435178.1:c.*329_*330del, NM_001375269.1:c.*329_*330del, XM_047435181.1:c.*329_*330del, XM_047435187.1:c.*329_*330del, NM_001284363.1:c.*329_*330del

Select item 14895513282.

rs1489551328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:62615183 (GRCh38)
17:60692544 (GRCh37)
Canonical SPDI:: NC_000017.11:62615182:G:A
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.62615183G>A, NC_000017.10:g.60692544G>A, NM_006852.6:c.*2618G>A, NM_006852.5:c.*2618G>A, NM_006852.4:c.*2618G>A, NM_006852.3:c.*2618G>A, XM_011524222.4:c.*2618G>A, XM_011524222.3:c.*2618G>A, XM_011524222.2:c.*2618G>A, XM_011524222.1:c.*2618G>A, XM_011524223.4:c.*2618G>A, XM_011524223.3:c.*2618G>A, XM_011524223.2:c.*2618G>A, XM_011524223.1:c.*2618G>A, XM_017024048.3:c.*2618G>A, XM_017024048.2:c.*2618G>A, XM_017024048.1:c.*2618G>A, XM_017024049.3:c.*2618G>A, XM_017024049.2:c.*2618G>A, XM_017024049.1:c.*2618G>A, XM_017024051.3:c.*2618G>A, XM_017024051.2:c.*2618G>A, XM_017024051.1:c.*2618G>A, XM_011524216.3:c.*2618G>A, XM_011524216.2:c.*2618G>A, XM_011524216.1:c.*2618G>A, XM_017024054.3:c.*2618G>A, XM_017024054.2:c.*2618G>A, XM_017024054.1:c.*2618G>A, XM_011524221.3:c.*2618G>A, XM_011524221.2:c.*2618G>A, XM_011524221.1:c.*2618G>A, NM_001284333.3:c.*2618G>A, NM_001284333.2:c.*2618G>A, NM_001284333.1:c.*2618G>A, NM_001330418.3:c.*2618G>A, NM_001330418.2:c.*2618G>A, NM_001330418.1:c.*2618G>A, XM_017024055.3:c.*2618G>A, XM_017024055.2:c.*2618G>A, XM_017024055.1:c.*2618G>A, XM_017024053.3:c.*2618G>A, XM_017024053.2:c.*2618G>A, XM_017024053.1:c.*2618G>A, XM_011524215.3:c.*2618G>A, XM_011524215.2:c.*2618G>A, XM_011524215.1:c.*2618G>A, XM_011524226.3:c.*2618G>A, XM_011524226.2:c.*2618G>A, XM_011524226.1:c.*2618G>A, XM_011524218.3:c.*2618G>A, XM_011524218.2:c.*2618G>A, XM_011524218.1:c.*2618G>A, XM_011524227.3:c.*2618G>A, XM_011524227.2:c.*2618G>A, XM_011524227.1:c.*2618G>A, XM_011524220.3:c.*2618G>A, XM_011524220.2:c.*2618G>A, XM_011524220.1:c.*2618G>A, XM_024450553.2:c.*2618G>A, XM_024450553.1:c.*2618G>A, XM_024450552.2:c.*2618G>A, XM_024450552.1:c.*2618G>A, XM_017024044.2:c.*2618G>A, XM_017024044.1:c.*2618G>A, XM_017024050.2:c.*2618G>A, XM_017024050.1:c.*2618G>A, XM_047435186.1:c.*2618G>A, NM_001375273.1:c.*2618G>A, NM_001375270.1:c.*2618G>A, NM_001375272.1:c.*2618G>A, XM_047435179.1:c.*2618G>A, NM_001375271.1:c.*2618G>A, XM_047435180.1:c.*2618G>A, XM_047435174.1:c.*2618G>A, XM_047435175.1:c.*2618G>A, XM_047435188.1:c.*2618G>A, NM_001411074.1:c.*2618G>A, XM_047435182.1:c.*2618G>A, XM_047435176.1:c.*2618G>A, NM_001112707.1:c.*2618G>A, XM_047435183.1:c.*2618G>A, XM_047435177.1:c.*2618G>A, XM_047435185.1:c.*2618G>A, XM_047435178.1:c.*2618G>A, NM_001375269.1:c.*2618G>A, XM_047435181.1:c.*2618G>A, XM_047435187.1:c.*2618G>A, NM_001284363.1:c.*2618G>A

Select item 14894521623.

rs1489452162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:62614357 (GRCh38)
17:60691718 (GRCh37)
Canonical SPDI:: NC_000017.11:62614356:C:T
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.62614357C>T, NC_000017.10:g.60691718C>T, NM_006852.6:c.*1792C>T, NM_006852.5:c.*1792C>T, NM_006852.4:c.*1792C>T, NM_006852.3:c.*1792C>T, XM_011524222.4:c.*1792C>T, XM_011524222.3:c.*1792C>T, XM_011524222.2:c.*1792C>T, XM_011524222.1:c.*1792C>T, XM_011524223.4:c.*1792C>T, XM_011524223.3:c.*1792C>T, XM_011524223.2:c.*1792C>T, XM_011524223.1:c.*1792C>T, XM_017024048.3:c.*1792C>T, XM_017024048.2:c.*1792C>T, XM_017024048.1:c.*1792C>T, XM_017024049.3:c.*1792C>T, XM_017024049.2:c.*1792C>T, XM_017024049.1:c.*1792C>T, XM_017024051.3:c.*1792C>T, XM_017024051.2:c.*1792C>T, XM_017024051.1:c.*1792C>T, XM_011524216.3:c.*1792C>T, XM_011524216.2:c.*1792C>T, XM_011524216.1:c.*1792C>T, XM_017024054.3:c.*1792C>T, XM_017024054.2:c.*1792C>T, XM_017024054.1:c.*1792C>T, XM_011524221.3:c.*1792C>T, XM_011524221.2:c.*1792C>T, XM_011524221.1:c.*1792C>T, NM_001284333.3:c.*1792C>T, NM_001284333.2:c.*1792C>T, NM_001284333.1:c.*1792C>T, NM_001330418.3:c.*1792C>T, NM_001330418.2:c.*1792C>T, NM_001330418.1:c.*1792C>T, XM_017024055.3:c.*1792C>T, XM_017024055.2:c.*1792C>T, XM_017024055.1:c.*1792C>T, XM_017024053.3:c.*1792C>T, XM_017024053.2:c.*1792C>T, XM_017024053.1:c.*1792C>T, XM_011524215.3:c.*1792C>T, XM_011524215.2:c.*1792C>T, XM_011524215.1:c.*1792C>T, XM_011524226.3:c.*1792C>T, XM_011524226.2:c.*1792C>T, XM_011524226.1:c.*1792C>T, XM_011524218.3:c.*1792C>T, XM_011524218.2:c.*1792C>T, XM_011524218.1:c.*1792C>T, XM_011524227.3:c.*1792C>T, XM_011524227.2:c.*1792C>T, XM_011524227.1:c.*1792C>T, XM_011524220.3:c.*1792C>T, XM_011524220.2:c.*1792C>T, XM_011524220.1:c.*1792C>T, XM_024450553.2:c.*1792C>T, XM_024450553.1:c.*1792C>T, XM_024450552.2:c.*1792C>T, XM_024450552.1:c.*1792C>T, XM_017024044.2:c.*1792C>T, XM_017024044.1:c.*1792C>T, XM_017024050.2:c.*1792C>T, XM_017024050.1:c.*1792C>T, XM_047435186.1:c.*1792C>T, NM_001375273.1:c.*1792C>T, NM_001375270.1:c.*1792C>T, NM_001375272.1:c.*1792C>T, XM_047435179.1:c.*1792C>T, NM_001375271.1:c.*1792C>T, XM_047435180.1:c.*1792C>T, XM_047435174.1:c.*1792C>T, XM_047435175.1:c.*1792C>T, XM_047435188.1:c.*1792C>T, NM_001411074.1:c.*1792C>T, XM_047435182.1:c.*1792C>T, XM_047435176.1:c.*1792C>T, NM_001112707.1:c.*1792C>T, XM_047435183.1:c.*1792C>T, XM_047435177.1:c.*1792C>T, XM_047435185.1:c.*1792C>T, XM_047435178.1:c.*1792C>T, NM_001375269.1:c.*1792C>T, XM_047435181.1:c.*1792C>T, XM_047435187.1:c.*1792C>T, NM_001284363.1:c.*1792C>T

Select item 14894075674.

rs1489407567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:62613088 (GRCh38)
17:60690449 (GRCh37)
Canonical SPDI:: NC_000017.11:62613087:G:A,NC_000017.11:62613087:G:T
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.62613088G>A, NC_000017.11:g.62613088G>T, NC_000017.10:g.60690449G>A, NC_000017.10:g.60690449G>T, NM_006852.6:c.*523G>A, NM_006852.6:c.*523G>T, NM_006852.5:c.*523G>A, NM_006852.5:c.*523G>T, NM_006852.4:c.*523G>A, NM_006852.4:c.*523G>T, NM_006852.3:c.*523G>A, NM_006852.3:c.*523G>T, XM_011524222.4:c.*523G>A, XM_011524222.4:c.*523G>T, XM_011524222.3:c.*523G>A, XM_011524222.3:c.*523G>T, XM_011524222.2:c.*523G>A, XM_011524222.2:c.*523G>T, XM_011524222.1:c.*523G>A, XM_011524222.1:c.*523G>T, XM_011524223.4:c.*523G>A, XM_011524223.4:c.*523G>T, XM_011524223.3:c.*523G>A, XM_011524223.3:c.*523G>T, XM_011524223.2:c.*523G>A, XM_011524223.2:c.*523G>T, XM_011524223.1:c.*523G>A, XM_011524223.1:c.*523G>T, XM_017024048.3:c.*523G>A, XM_017024048.3:c.*523G>T, XM_017024048.2:c.*523G>A, XM_017024048.2:c.*523G>T, XM_017024048.1:c.*523G>A, XM_017024048.1:c.*523G>T, XM_017024049.3:c.*523G>A, XM_017024049.3:c.*523G>T, XM_017024049.2:c.*523G>A, XM_017024049.2:c.*523G>T, XM_017024049.1:c.*523G>A, XM_017024049.1:c.*523G>T, XM_017024051.3:c.*523G>A, XM_017024051.3:c.*523G>T, XM_017024051.2:c.*523G>A, XM_017024051.2:c.*523G>T, XM_017024051.1:c.*523G>A, XM_017024051.1:c.*523G>T, XM_011524216.3:c.*523G>A, XM_011524216.3:c.*523G>T, XM_011524216.2:c.*523G>A, XM_011524216.2:c.*523G>T, XM_011524216.1:c.*523G>A, XM_011524216.1:c.*523G>T, XM_017024054.3:c.*523G>A, XM_017024054.3:c.*523G>T, XM_017024054.2:c.*523G>A, XM_017024054.2:c.*523G>T, XM_017024054.1:c.*523G>A, XM_017024054.1:c.*523G>T, XM_011524221.3:c.*523G>A, XM_011524221.3:c.*523G>T, XM_011524221.2:c.*523G>A, XM_011524221.2:c.*523G>T, XM_011524221.1:c.*523G>A, XM_011524221.1:c.*523G>T, NM_001284333.3:c.*523G>A, NM_001284333.3:c.*523G>T, NM_001284333.2:c.*523G>A, NM_001284333.2:c.*523G>T, NM_001284333.1:c.*523G>A, NM_001284333.1:c.*523G>T, NM_001330418.3:c.*523G>A, NM_001330418.3:c.*523G>T, NM_001330418.2:c.*523G>A, NM_001330418.2:c.*523G>T, NM_001330418.1:c.*523G>A, NM_001330418.1:c.*523G>T, XM_017024055.3:c.*523G>A, XM_017024055.3:c.*523G>T, XM_017024055.2:c.*523G>A, XM_017024055.2:c.*523G>T, XM_017024055.1:c.*523G>A, XM_017024055.1:c.*523G>T, XM_017024053.3:c.*523G>A, XM_017024053.3:c.*523G>T, XM_017024053.2:c.*523G>A, XM_017024053.2:c.*523G>T, XM_017024053.1:c.*523G>A, XM_017024053.1:c.*523G>T, XM_011524215.3:c.*523G>A, XM_011524215.3:c.*523G>T, XM_011524215.2:c.*523G>A, XM_011524215.2:c.*523G>T, XM_011524215.1:c.*523G>A, XM_011524215.1:c.*523G>T, XM_011524226.3:c.*523G>A, XM_011524226.3:c.*523G>T, XM_011524226.2:c.*523G>A, XM_011524226.2:c.*523G>T, XM_011524226.1:c.*523G>A, XM_011524226.1:c.*523G>T, XM_011524218.3:c.*523G>A, XM_011524218.3:c.*523G>T, XM_011524218.2:c.*523G>A, XM_011524218.2:c.*523G>T, XM_011524218.1:c.*523G>A, XM_011524218.1:c.*523G>T, XM_011524227.3:c.*523G>A, XM_011524227.3:c.*523G>T, XM_011524227.2:c.*523G>A, XM_011524227.2:c.*523G>T, XM_011524227.1:c.*523G>A, XM_011524227.1:c.*523G>T, XM_011524220.3:c.*523G>A, XM_011524220.3:c.*523G>T, XM_011524220.2:c.*523G>A, XM_011524220.2:c.*523G>T, XM_011524220.1:c.*523G>A, XM_011524220.1:c.*523G>T, XM_024450553.2:c.*523G>A, XM_024450553.2:c.*523G>T, XM_024450553.1:c.*523G>A, XM_024450553.1:c.*523G>T, XM_024450552.2:c.*523G>A, XM_024450552.2:c.*523G>T, XM_024450552.1:c.*523G>A, XM_024450552.1:c.*523G>T, XM_017024044.2:c.*523G>A, XM_017024044.2:c.*523G>T, XM_017024044.1:c.*523G>A, XM_017024044.1:c.*523G>T, XM_017024050.2:c.*523G>A, XM_017024050.2:c.*523G>T, XM_017024050.1:c.*523G>A, XM_017024050.1:c.*523G>T, XM_047435186.1:c.*523G>A, XM_047435186.1:c.*523G>T, NM_001375273.1:c.*523G>A, NM_001375273.1:c.*523G>T, NM_001375270.1:c.*523G>A, NM_001375270.1:c.*523G>T, NM_001375272.1:c.*523G>A, NM_001375272.1:c.*523G>T, XM_047435179.1:c.*523G>A, XM_047435179.1:c.*523G>T, NM_001375271.1:c.*523G>A, NM_001375271.1:c.*523G>T, XM_047435180.1:c.*523G>A, XM_047435180.1:c.*523G>T, XM_047435174.1:c.*523G>A, XM_047435174.1:c.*523G>T, XM_047435175.1:c.*523G>A, XM_047435175.1:c.*523G>T, XM_047435188.1:c.*523G>A, XM_047435188.1:c.*523G>T, NM_001411074.1:c.*523G>A, NM_001411074.1:c.*523G>T, XM_047435182.1:c.*523G>A, XM_047435182.1:c.*523G>T, XM_047435176.1:c.*523G>A, XM_047435176.1:c.*523G>T, NM_001112707.1:c.*523G>A, NM_001112707.1:c.*523G>T, XM_047435183.1:c.*523G>A, XM_047435183.1:c.*523G>T, XM_047435177.1:c.*523G>A, XM_047435177.1:c.*523G>T, XM_047435185.1:c.*523G>A, XM_047435185.1:c.*523G>T, XM_047435178.1:c.*523G>A, XM_047435178.1:c.*523G>T, NM_001375269.1:c.*523G>A, NM_001375269.1:c.*523G>T, XM_047435181.1:c.*523G>A, XM_047435181.1:c.*523G>T, XM_047435187.1:c.*523G>A, XM_047435187.1:c.*523G>T, NM_001284363.1:c.*523G>A, NM_001284363.1:c.*523G>T

Select item 14885634445.

rs1488563444 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:62613418 (GRCh38)
17:60690779 (GRCh37)
Canonical SPDI:: NC_000017.11:62613417:A:G,NC_000017.11:62613417:A:T
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.62613418A>G, NC_000017.11:g.62613418A>T, NC_000017.10:g.60690779A>G, NC_000017.10:g.60690779A>T, NM_006852.6:c.*853A>G, NM_006852.6:c.*853A>T, NM_006852.5:c.*853A>G, NM_006852.5:c.*853A>T, NM_006852.4:c.*853A>G, NM_006852.4:c.*853A>T, NM_006852.3:c.*853A>G, NM_006852.3:c.*853A>T, XM_011524222.4:c.*853A>G, XM_011524222.4:c.*853A>T, XM_011524222.3:c.*853A>G, XM_011524222.3:c.*853A>T, XM_011524222.2:c.*853A>G, XM_011524222.2:c.*853A>T, XM_011524222.1:c.*853A>G, XM_011524222.1:c.*853A>T, XM_011524223.4:c.*853A>G, XM_011524223.4:c.*853A>T, XM_011524223.3:c.*853A>G, XM_011524223.3:c.*853A>T, XM_011524223.2:c.*853A>G, XM_011524223.2:c.*853A>T, XM_011524223.1:c.*853A>G, XM_011524223.1:c.*853A>T, XM_017024048.3:c.*853A>G, XM_017024048.3:c.*853A>T, XM_017024048.2:c.*853A>G, XM_017024048.2:c.*853A>T, XM_017024048.1:c.*853A>G, XM_017024048.1:c.*853A>T, XM_017024049.3:c.*853A>G, XM_017024049.3:c.*853A>T, XM_017024049.2:c.*853A>G, XM_017024049.2:c.*853A>T, XM_017024049.1:c.*853A>G, XM_017024049.1:c.*853A>T, XM_017024051.3:c.*853A>G, XM_017024051.3:c.*853A>T, XM_017024051.2:c.*853A>G, XM_017024051.2:c.*853A>T, XM_017024051.1:c.*853A>G, XM_017024051.1:c.*853A>T, XM_011524216.3:c.*853A>G, XM_011524216.3:c.*853A>T, XM_011524216.2:c.*853A>G, XM_011524216.2:c.*853A>T, XM_011524216.1:c.*853A>G, XM_011524216.1:c.*853A>T, XM_017024054.3:c.*853A>G, XM_017024054.3:c.*853A>T, XM_017024054.2:c.*853A>G, XM_017024054.2:c.*853A>T, XM_017024054.1:c.*853A>G, XM_017024054.1:c.*853A>T, XM_011524221.3:c.*853A>G, XM_011524221.3:c.*853A>T, XM_011524221.2:c.*853A>G, XM_011524221.2:c.*853A>T, XM_011524221.1:c.*853A>G, XM_011524221.1:c.*853A>T, NM_001284333.3:c.*853A>G, NM_001284333.3:c.*853A>T, NM_001284333.2:c.*853A>G, NM_001284333.2:c.*853A>T, NM_001284333.1:c.*853A>G, NM_001284333.1:c.*853A>T, NM_001330418.3:c.*853A>G, NM_001330418.3:c.*853A>T, NM_001330418.2:c.*853A>G, NM_001330418.2:c.*853A>T, NM_001330418.1:c.*853A>G, NM_001330418.1:c.*853A>T, XM_017024055.3:c.*853A>G, XM_017024055.3:c.*853A>T, XM_017024055.2:c.*853A>G, XM_017024055.2:c.*853A>T, XM_017024055.1:c.*853A>G, XM_017024055.1:c.*853A>T, XM_017024053.3:c.*853A>G, XM_017024053.3:c.*853A>T, XM_017024053.2:c.*853A>G, XM_017024053.2:c.*853A>T, XM_017024053.1:c.*853A>G, XM_017024053.1:c.*853A>T, XM_011524215.3:c.*853A>G, XM_011524215.3:c.*853A>T, XM_011524215.2:c.*853A>G, XM_011524215.2:c.*853A>T, XM_011524215.1:c.*853A>G, XM_011524215.1:c.*853A>T, XM_011524226.3:c.*853A>G, XM_011524226.3:c.*853A>T, XM_011524226.2:c.*853A>G, XM_011524226.2:c.*853A>T, XM_011524226.1:c.*853A>G, XM_011524226.1:c.*853A>T, XM_011524218.3:c.*853A>G, XM_011524218.3:c.*853A>T, XM_011524218.2:c.*853A>G, XM_011524218.2:c.*853A>T, XM_011524218.1:c.*853A>G, XM_011524218.1:c.*853A>T, XM_011524227.3:c.*853A>G, XM_011524227.3:c.*853A>T, XM_011524227.2:c.*853A>G, XM_011524227.2:c.*853A>T, XM_011524227.1:c.*853A>G, XM_011524227.1:c.*853A>T, XM_011524220.3:c.*853A>G, XM_011524220.3:c.*853A>T, XM_011524220.2:c.*853A>G, XM_011524220.2:c.*853A>T, XM_011524220.1:c.*853A>G, XM_011524220.1:c.*853A>T, XM_024450553.2:c.*853A>G, XM_024450553.2:c.*853A>T, XM_024450553.1:c.*853A>G, XM_024450553.1:c.*853A>T, XM_024450552.2:c.*853A>G, XM_024450552.2:c.*853A>T, XM_024450552.1:c.*853A>G, XM_024450552.1:c.*853A>T, XM_017024044.2:c.*853A>G, XM_017024044.2:c.*853A>T, XM_017024044.1:c.*853A>G, XM_017024044.1:c.*853A>T, XM_017024050.2:c.*853A>G, XM_017024050.2:c.*853A>T, XM_017024050.1:c.*853A>G, XM_017024050.1:c.*853A>T, XM_047435186.1:c.*853A>G, XM_047435186.1:c.*853A>T, NM_001375273.1:c.*853A>G, NM_001375273.1:c.*853A>T, NM_001375270.1:c.*853A>G, NM_001375270.1:c.*853A>T, NM_001375272.1:c.*853A>G, NM_001375272.1:c.*853A>T, XM_047435179.1:c.*853A>G, XM_047435179.1:c.*853A>T, NM_001375271.1:c.*853A>G, NM_001375271.1:c.*853A>T, XM_047435180.1:c.*853A>G, XM_047435180.1:c.*853A>T, XM_047435174.1:c.*853A>G, XM_047435174.1:c.*853A>T, XM_047435175.1:c.*853A>G, XM_047435175.1:c.*853A>T, XM_047435188.1:c.*853A>G, XM_047435188.1:c.*853A>T, NM_001411074.1:c.*853A>G, NM_001411074.1:c.*853A>T, XM_047435182.1:c.*853A>G, XM_047435182.1:c.*853A>T, XM_047435176.1:c.*853A>G, XM_047435176.1:c.*853A>T, NM_001112707.1:c.*853A>G, NM_001112707.1:c.*853A>T, XM_047435183.1:c.*853A>G, XM_047435183.1:c.*853A>T, XM_047435177.1:c.*853A>G, XM_047435177.1:c.*853A>T, XM_047435185.1:c.*853A>G, XM_047435185.1:c.*853A>T, XM_047435178.1:c.*853A>G, XM_047435178.1:c.*853A>T, NM_001375269.1:c.*853A>G, NM_001375269.1:c.*853A>T, XM_047435181.1:c.*853A>G, XM_047435181.1:c.*853A>T, XM_047435187.1:c.*853A>G, XM_047435187.1:c.*853A>T, NM_001284363.1:c.*853A>G, NM_001284363.1:c.*853A>T

Select item 14883099626.

rs1488309962 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:62614120 (GRCh38)
17:60691481 (GRCh37)
Canonical SPDI:: NC_000017.11:62614119:T:G
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.62614120T>G, NC_000017.10:g.60691481T>G, NM_006852.6:c.*1555T>G, NM_006852.5:c.*1555T>G, NM_006852.4:c.*1555T>G, NM_006852.3:c.*1555T>G, XM_011524222.4:c.*1555T>G, XM_011524222.3:c.*1555T>G, XM_011524222.2:c.*1555T>G, XM_011524222.1:c.*1555T>G, XM_011524223.4:c.*1555T>G, XM_011524223.3:c.*1555T>G, XM_011524223.2:c.*1555T>G, XM_011524223.1:c.*1555T>G, XM_017024048.3:c.*1555T>G, XM_017024048.2:c.*1555T>G, XM_017024048.1:c.*1555T>G, XM_017024049.3:c.*1555T>G, XM_017024049.2:c.*1555T>G, XM_017024049.1:c.*1555T>G, XM_017024051.3:c.*1555T>G, XM_017024051.2:c.*1555T>G, XM_017024051.1:c.*1555T>G, XM_011524216.3:c.*1555T>G, XM_011524216.2:c.*1555T>G, XM_011524216.1:c.*1555T>G, XM_017024054.3:c.*1555T>G, XM_017024054.2:c.*1555T>G, XM_017024054.1:c.*1555T>G, XM_011524221.3:c.*1555T>G, XM_011524221.2:c.*1555T>G, XM_011524221.1:c.*1555T>G, NM_001284333.3:c.*1555T>G, NM_001284333.2:c.*1555T>G, NM_001284333.1:c.*1555T>G, NM_001330418.3:c.*1555T>G, NM_001330418.2:c.*1555T>G, NM_001330418.1:c.*1555T>G, XM_017024055.3:c.*1555T>G, XM_017024055.2:c.*1555T>G, XM_017024055.1:c.*1555T>G, XM_017024053.3:c.*1555T>G, XM_017024053.2:c.*1555T>G, XM_017024053.1:c.*1555T>G, XM_011524215.3:c.*1555T>G, XM_011524215.2:c.*1555T>G, XM_011524215.1:c.*1555T>G, XM_011524226.3:c.*1555T>G, XM_011524226.2:c.*1555T>G, XM_011524226.1:c.*1555T>G, XM_011524218.3:c.*1555T>G, XM_011524218.2:c.*1555T>G, XM_011524218.1:c.*1555T>G, XM_011524227.3:c.*1555T>G, XM_011524227.2:c.*1555T>G, XM_011524227.1:c.*1555T>G, XM_011524220.3:c.*1555T>G, XM_011524220.2:c.*1555T>G, XM_011524220.1:c.*1555T>G, XM_024450553.2:c.*1555T>G, XM_024450553.1:c.*1555T>G, XM_024450552.2:c.*1555T>G, XM_024450552.1:c.*1555T>G, XM_017024044.2:c.*1555T>G, XM_017024044.1:c.*1555T>G, XM_017024050.2:c.*1555T>G, XM_017024050.1:c.*1555T>G, XM_047435186.1:c.*1555T>G, NM_001375273.1:c.*1555T>G, NM_001375270.1:c.*1555T>G, NM_001375272.1:c.*1555T>G, XM_047435179.1:c.*1555T>G, NM_001375271.1:c.*1555T>G, XM_047435180.1:c.*1555T>G, XM_047435174.1:c.*1555T>G, XM_047435175.1:c.*1555T>G, XM_047435188.1:c.*1555T>G, NM_001411074.1:c.*1555T>G, XM_047435182.1:c.*1555T>G, XM_047435176.1:c.*1555T>G, NM_001112707.1:c.*1555T>G, XM_047435183.1:c.*1555T>G, XM_047435177.1:c.*1555T>G, XM_047435185.1:c.*1555T>G, XM_047435178.1:c.*1555T>G, NM_001375269.1:c.*1555T>G, XM_047435181.1:c.*1555T>G, XM_047435187.1:c.*1555T>G, NM_001284363.1:c.*1555T>G

Select item 14883079387.

rs1488307938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:62614341 (GRCh38)
17:60691702 (GRCh37)
Canonical SPDI:: NC_000017.11:62614340:C:T
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.62614341C>T, NC_000017.10:g.60691702C>T, NM_006852.6:c.*1776C>T, NM_006852.5:c.*1776C>T, NM_006852.4:c.*1776C>T, NM_006852.3:c.*1776C>T, XM_011524222.4:c.*1776C>T, XM_011524222.3:c.*1776C>T, XM_011524222.2:c.*1776C>T, XM_011524222.1:c.*1776C>T, XM_011524223.4:c.*1776C>T, XM_011524223.3:c.*1776C>T, XM_011524223.2:c.*1776C>T, XM_011524223.1:c.*1776C>T, XM_017024048.3:c.*1776C>T, XM_017024048.2:c.*1776C>T, XM_017024048.1:c.*1776C>T, XM_017024049.3:c.*1776C>T, XM_017024049.2:c.*1776C>T, XM_017024049.1:c.*1776C>T, XM_017024051.3:c.*1776C>T, XM_017024051.2:c.*1776C>T, XM_017024051.1:c.*1776C>T, XM_011524216.3:c.*1776C>T, XM_011524216.2:c.*1776C>T, XM_011524216.1:c.*1776C>T, XM_017024054.3:c.*1776C>T, XM_017024054.2:c.*1776C>T, XM_017024054.1:c.*1776C>T, XM_011524221.3:c.*1776C>T, XM_011524221.2:c.*1776C>T, XM_011524221.1:c.*1776C>T, NM_001284333.3:c.*1776C>T, NM_001284333.2:c.*1776C>T, NM_001284333.1:c.*1776C>T, NM_001330418.3:c.*1776C>T, NM_001330418.2:c.*1776C>T, NM_001330418.1:c.*1776C>T, XM_017024055.3:c.*1776C>T, XM_017024055.2:c.*1776C>T, XM_017024055.1:c.*1776C>T, XM_017024053.3:c.*1776C>T, XM_017024053.2:c.*1776C>T, XM_017024053.1:c.*1776C>T, XM_011524215.3:c.*1776C>T, XM_011524215.2:c.*1776C>T, XM_011524215.1:c.*1776C>T, XM_011524226.3:c.*1776C>T, XM_011524226.2:c.*1776C>T, XM_011524226.1:c.*1776C>T, XM_011524218.3:c.*1776C>T, XM_011524218.2:c.*1776C>T, XM_011524218.1:c.*1776C>T, XM_011524227.3:c.*1776C>T, XM_011524227.2:c.*1776C>T, XM_011524227.1:c.*1776C>T, XM_011524220.3:c.*1776C>T, XM_011524220.2:c.*1776C>T, XM_011524220.1:c.*1776C>T, XM_024450553.2:c.*1776C>T, XM_024450553.1:c.*1776C>T, XM_024450552.2:c.*1776C>T, XM_024450552.1:c.*1776C>T, XM_017024044.2:c.*1776C>T, XM_017024044.1:c.*1776C>T, XM_017024050.2:c.*1776C>T, XM_017024050.1:c.*1776C>T, XM_047435186.1:c.*1776C>T, NM_001375273.1:c.*1776C>T, NM_001375270.1:c.*1776C>T, NM_001375272.1:c.*1776C>T, XM_047435179.1:c.*1776C>T, NM_001375271.1:c.*1776C>T, XM_047435180.1:c.*1776C>T, XM_047435174.1:c.*1776C>T, XM_047435175.1:c.*1776C>T, XM_047435188.1:c.*1776C>T, NM_001411074.1:c.*1776C>T, XM_047435182.1:c.*1776C>T, XM_047435176.1:c.*1776C>T, NM_001112707.1:c.*1776C>T, XM_047435183.1:c.*1776C>T, XM_047435177.1:c.*1776C>T, XM_047435185.1:c.*1776C>T, XM_047435178.1:c.*1776C>T, NM_001375269.1:c.*1776C>T, XM_047435181.1:c.*1776C>T, XM_047435187.1:c.*1776C>T, NM_001284363.1:c.*1776C>T

Select item 14881576978.

rs1488157697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:62612944 (GRCh38)
17:60690305 (GRCh37)
Canonical SPDI:: NC_000017.11:62612943:A:G
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.62612944A>G, NC_000017.10:g.60690305A>G, NM_006852.6:c.*379A>G, NM_006852.5:c.*379A>G, NM_006852.4:c.*379A>G, NM_006852.3:c.*379A>G, XM_011524222.4:c.*379A>G, XM_011524222.3:c.*379A>G, XM_011524222.2:c.*379A>G, XM_011524222.1:c.*379A>G, XM_011524223.4:c.*379A>G, XM_011524223.3:c.*379A>G, XM_011524223.2:c.*379A>G, XM_011524223.1:c.*379A>G, XM_017024048.3:c.*379A>G, XM_017024048.2:c.*379A>G, XM_017024048.1:c.*379A>G, XM_017024049.3:c.*379A>G, XM_017024049.2:c.*379A>G, XM_017024049.1:c.*379A>G, XM_017024051.3:c.*379A>G, XM_017024051.2:c.*379A>G, XM_017024051.1:c.*379A>G, XM_011524216.3:c.*379A>G, XM_011524216.2:c.*379A>G, XM_011524216.1:c.*379A>G, XM_017024054.3:c.*379A>G, XM_017024054.2:c.*379A>G, XM_017024054.1:c.*379A>G, XM_011524221.3:c.*379A>G, XM_011524221.2:c.*379A>G, XM_011524221.1:c.*379A>G, NM_001284333.3:c.*379A>G, NM_001284333.2:c.*379A>G, NM_001284333.1:c.*379A>G, NM_001330418.3:c.*379A>G, NM_001330418.2:c.*379A>G, NM_001330418.1:c.*379A>G, XM_017024055.3:c.*379A>G, XM_017024055.2:c.*379A>G, XM_017024055.1:c.*379A>G, XM_017024053.3:c.*379A>G, XM_017024053.2:c.*379A>G, XM_017024053.1:c.*379A>G, XM_011524215.3:c.*379A>G, XM_011524215.2:c.*379A>G, XM_011524215.1:c.*379A>G, XM_011524226.3:c.*379A>G, XM_011524226.2:c.*379A>G, XM_011524226.1:c.*379A>G, XM_011524218.3:c.*379A>G, XM_011524218.2:c.*379A>G, XM_011524218.1:c.*379A>G, XM_011524227.3:c.*379A>G, XM_011524227.2:c.*379A>G, XM_011524227.1:c.*379A>G, XM_011524220.3:c.*379A>G, XM_011524220.2:c.*379A>G, XM_011524220.1:c.*379A>G, XM_024450553.2:c.*379A>G, XM_024450553.1:c.*379A>G, XM_024450552.2:c.*379A>G, XM_024450552.1:c.*379A>G, XM_017024044.2:c.*379A>G, XM_017024044.1:c.*379A>G, XM_017024050.2:c.*379A>G, XM_017024050.1:c.*379A>G, XM_047435186.1:c.*379A>G, NM_001375273.1:c.*379A>G, NM_001375270.1:c.*379A>G, NM_001375272.1:c.*379A>G, XM_047435179.1:c.*379A>G, NM_001375271.1:c.*379A>G, XM_047435180.1:c.*379A>G, XM_047435174.1:c.*379A>G, XM_047435175.1:c.*379A>G, XM_047435188.1:c.*379A>G, NM_001411074.1:c.*379A>G, XM_047435182.1:c.*379A>G, XM_047435176.1:c.*379A>G, NM_001112707.1:c.*379A>G, XM_047435183.1:c.*379A>G, XM_047435177.1:c.*379A>G, XM_047435185.1:c.*379A>G, XM_047435178.1:c.*379A>G, NM_001375269.1:c.*379A>G, XM_047435181.1:c.*379A>G, XM_047435187.1:c.*379A>G, NM_001284363.1:c.*379A>G

Select item 14872619509.

rs1487261950 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 17:62614146 (GRCh38)
17:60691507 (GRCh37)
Canonical SPDI:: NC_000017.11:62614145:GG:
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.62614146_62614147del, NC_000017.10:g.60691507_60691508del, NM_006852.6:c.*1581_*1582del, NM_006852.5:c.*1581_*1582del, NM_006852.4:c.*1581_*1582del, NM_006852.3:c.*1581_*1582del, XM_011524222.4:c.*1581_*1582del, XM_011524222.3:c.*1581_*1582del, XM_011524222.2:c.*1581_*1582del, XM_011524222.1:c.*1581_*1582del, XM_011524223.4:c.*1581_*1582del, XM_011524223.3:c.*1581_*1582del, XM_011524223.2:c.*1581_*1582del, XM_011524223.1:c.*1581_*1582del, XM_017024048.3:c.*1581_*1582del, XM_017024048.2:c.*1581_*1582del, XM_017024048.1:c.*1581_*1582del, XM_017024049.3:c.*1581_*1582del, XM_017024049.2:c.*1581_*1582del, XM_017024049.1:c.*1581_*1582del, XM_017024051.3:c.*1581_*1582del, XM_017024051.2:c.*1581_*1582del, XM_017024051.1:c.*1581_*1582del, XM_011524216.3:c.*1581_*1582del, XM_011524216.2:c.*1581_*1582del, XM_011524216.1:c.*1581_*1582del, XM_017024054.3:c.*1581_*1582del, XM_017024054.2:c.*1581_*1582del, XM_017024054.1:c.*1581_*1582del, XM_011524221.3:c.*1581_*1582del, XM_011524221.2:c.*1581_*1582del, XM_011524221.1:c.*1581_*1582del, NM_001284333.3:c.*1581_*1582del, NM_001284333.2:c.*1581_*1582del, NM_001284333.1:c.*1581_*1582del, NM_001330418.3:c.*1581_*1582del, NM_001330418.2:c.*1581_*1582del, NM_001330418.1:c.*1581_*1582del, XM_017024055.3:c.*1581_*1582del, XM_017024055.2:c.*1581_*1582del, XM_017024055.1:c.*1581_*1582del, XM_017024053.3:c.*1581_*1582del, XM_017024053.2:c.*1581_*1582del, XM_017024053.1:c.*1581_*1582del, XM_011524215.3:c.*1581_*1582del, XM_011524215.2:c.*1581_*1582del, XM_011524215.1:c.*1581_*1582del, XM_011524226.3:c.*1581_*1582del, XM_011524226.2:c.*1581_*1582del, XM_011524226.1:c.*1581_*1582del, XM_011524218.3:c.*1581_*1582del, XM_011524218.2:c.*1581_*1582del, XM_011524218.1:c.*1581_*1582del, XM_011524227.3:c.*1581_*1582del, XM_011524227.2:c.*1581_*1582del, XM_011524227.1:c.*1581_*1582del, XM_011524220.3:c.*1581_*1582del, XM_011524220.2:c.*1581_*1582del, XM_011524220.1:c.*1581_*1582del, XM_024450553.2:c.*1581_*1582del, XM_024450553.1:c.*1581_*1582del, XM_024450552.2:c.*1581_*1582del, XM_024450552.1:c.*1581_*1582del, XM_017024044.2:c.*1581_*1582del, XM_017024044.1:c.*1581_*1582del, XM_017024050.2:c.*1581_*1582del, XM_017024050.1:c.*1581_*1582del, XM_047435186.1:c.*1581_*1582del, NM_001375273.1:c.*1581_*1582del, NM_001375270.1:c.*1581_*1582del, NM_001375272.1:c.*1581_*1582del, XM_047435179.1:c.*1581_*1582del, NM_001375271.1:c.*1581_*1582del, XM_047435180.1:c.*1581_*1582del, XM_047435174.1:c.*1581_*1582del, XM_047435175.1:c.*1581_*1582del, XM_047435188.1:c.*1581_*1582del, NM_001411074.1:c.*1581_*1582del, XM_047435182.1:c.*1581_*1582del, XM_047435176.1:c.*1581_*1582del, NM_001112707.1:c.*1581_*1582del, XM_047435183.1:c.*1581_*1582del, XM_047435177.1:c.*1581_*1582del, XM_047435185.1:c.*1581_*1582del, XM_047435178.1:c.*1581_*1582del, NM_001375269.1:c.*1581_*1582del, XM_047435181.1:c.*1581_*1582del, XM_047435187.1:c.*1581_*1582del, NM_001284363.1:c.*1581_*1582del

Select item 148599023810.

rs1485990238 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:62615205 (GRCh38)
17:60692566 (GRCh37)
Canonical SPDI:: NC_000017.11:62615204:A:G
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.62615205A>G, NC_000017.10:g.60692566A>G, NM_006852.6:c.*2640A>G, NM_006852.5:c.*2640A>G, NM_006852.4:c.*2640A>G, NM_006852.3:c.*2640A>G, XM_011524222.4:c.*2640A>G, XM_011524222.3:c.*2640A>G, XM_011524222.2:c.*2640A>G, XM_011524222.1:c.*2640A>G, XM_011524223.4:c.*2640A>G, XM_011524223.3:c.*2640A>G, XM_011524223.2:c.*2640A>G, XM_011524223.1:c.*2640A>G, XM_017024048.3:c.*2640A>G, XM_017024048.2:c.*2640A>G, XM_017024048.1:c.*2640A>G, XM_017024049.3:c.*2640A>G, XM_017024049.2:c.*2640A>G, XM_017024049.1:c.*2640A>G, XM_017024051.3:c.*2640A>G, XM_017024051.2:c.*2640A>G, XM_017024051.1:c.*2640A>G, XM_011524216.3:c.*2640A>G, XM_011524216.2:c.*2640A>G, XM_011524216.1:c.*2640A>G, XM_017024054.3:c.*2640A>G, XM_017024054.2:c.*2640A>G, XM_017024054.1:c.*2640A>G, XM_011524221.3:c.*2640A>G, XM_011524221.2:c.*2640A>G, XM_011524221.1:c.*2640A>G, NM_001284333.3:c.*2640A>G, NM_001284333.2:c.*2640A>G, NM_001284333.1:c.*2640A>G, NM_001330418.3:c.*2640A>G, NM_001330418.2:c.*2640A>G, NM_001330418.1:c.*2640A>G, XM_017024055.3:c.*2640A>G, XM_017024055.2:c.*2640A>G, XM_017024055.1:c.*2640A>G, XM_017024053.3:c.*2640A>G, XM_017024053.2:c.*2640A>G, XM_017024053.1:c.*2640A>G, XM_011524215.3:c.*2640A>G, XM_011524215.2:c.*2640A>G, XM_011524215.1:c.*2640A>G, XM_011524226.3:c.*2640A>G, XM_011524226.2:c.*2640A>G, XM_011524226.1:c.*2640A>G, XM_011524218.3:c.*2640A>G, XM_011524218.2:c.*2640A>G, XM_011524218.1:c.*2640A>G, XM_011524227.3:c.*2640A>G, XM_011524227.2:c.*2640A>G, XM_011524227.1:c.*2640A>G, XM_011524220.3:c.*2640A>G, XM_011524220.2:c.*2640A>G, XM_011524220.1:c.*2640A>G, XM_024450553.2:c.*2640A>G, XM_024450553.1:c.*2640A>G, XM_024450552.2:c.*2640A>G, XM_024450552.1:c.*2640A>G, XM_017024044.2:c.*2640A>G, XM_017024044.1:c.*2640A>G, XM_017024050.2:c.*2640A>G, XM_017024050.1:c.*2640A>G, XM_047435186.1:c.*2640A>G, NM_001375273.1:c.*2640A>G, NM_001375270.1:c.*2640A>G, NM_001375272.1:c.*2640A>G, XM_047435179.1:c.*2640A>G, NM_001375271.1:c.*2640A>G, XM_047435180.1:c.*2640A>G, XM_047435174.1:c.*2640A>G, XM_047435175.1:c.*2640A>G, XM_047435188.1:c.*2640A>G, NM_001411074.1:c.*2640A>G, XM_047435182.1:c.*2640A>G, XM_047435176.1:c.*2640A>G, NM_001112707.1:c.*2640A>G, XM_047435183.1:c.*2640A>G, XM_047435177.1:c.*2640A>G, XM_047435185.1:c.*2640A>G, XM_047435178.1:c.*2640A>G, NM_001375269.1:c.*2640A>G, XM_047435181.1:c.*2640A>G, XM_047435187.1:c.*2640A>G, NM_001284363.1:c.*2640A>G

Select item 148580182211.

rs1485801822 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:62481200 (GRCh38)
17:60558561 (GRCh37)
Canonical SPDI:: NC_000017.11:62481199:T:C
Gene:: TLK2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.62481200T>C, NC_000017.10:g.60558561T>C, NM_006852.6:c.75T>C, NM_006852.5:c.75T>C, NM_006852.4:c.75T>C, NM_006852.3:c.75T>C, XM_011524222.4:c.75T>C, XM_011524222.3:c.75T>C, XM_011524222.2:c.75T>C, XM_011524222.1:c.75T>C, XM_011524223.4:c.75T>C, XM_011524223.3:c.75T>C, XM_011524223.2:c.75T>C, XM_011524223.1:c.75T>C, XM_017024048.3:c.75T>C, XM_017024048.2:c.75T>C, XM_017024048.1:c.75T>C, XM_017024049.3:c.75T>C, XM_017024049.2:c.75T>C, XM_017024049.1:c.75T>C, XM_017024051.3:c.75T>C, XM_017024051.2:c.75T>C, XM_017024051.1:c.75T>C, XM_011524216.3:c.75T>C, XM_011524216.2:c.75T>C, XM_011524216.1:c.75T>C, XM_017024054.3:c.75T>C, XM_017024054.2:c.75T>C, XM_017024054.1:c.75T>C, XM_011524221.3:c.75T>C, XM_011524221.2:c.75T>C, XM_011524221.1:c.75T>C, NM_001284333.3:c.75T>C, NM_001284333.2:c.75T>C, NM_001284333.1:c.75T>C, NM_001330418.3:c.-423T>C, NM_001330418.2:c.-423T>C, NM_001330418.1:c.-423T>C, XM_017024055.3:c.75T>C, XM_017024055.2:c.75T>C, XM_017024055.1:c.75T>C, XM_017024053.3:c.75T>C, XM_017024053.2:c.75T>C, XM_017024053.1:c.75T>C, XM_011524215.3:c.216T>C, XM_011524215.2:c.75T>C, XM_011524215.1:c.75T>C, XM_011524226.3:c.-313T>C, XM_011524226.2:c.-313T>C, XM_011524226.1:c.-313T>C, XM_011524218.3:c.216T>C, XM_011524218.2:c.75T>C, XM_011524218.1:c.75T>C, XM_011524227.3:c.-244T>C, XM_011524227.2:c.-244T>C, XM_011524227.1:c.-244T>C, XM_011524220.3:c.216T>C, XM_011524220.2:c.75T>C, XM_011524220.1:c.75T>C, XM_024450553.2:c.75T>C, XM_024450553.1:c.75T>C, XM_024450552.2:c.96T>C, XM_024450552.1:c.96T>C, XM_017024044.2:c.213T>C, XM_017024044.1:c.75T>C, XM_017024050.2:c.213T>C, XM_017024050.1:c.213T>C, XM_011524231.2:c.216T>C, XM_011524231.1:c.75T>C, NM_001375273.1:c.-423T>C, NM_001375270.1:c.75T>C, NM_001375272.1:c.75T>C, XM_047435179.1:c.75T>C, NM_001375271.1:c.75T>C, XM_047435180.1:c.75T>C, XM_047435174.1:c.216T>C, XM_047435175.1:c.213T>C, XM_047435188.1:c.75T>C, NM_001411074.1:c.75T>C, XM_047435182.1:c.75T>C, XM_047435176.1:c.216T>C, NM_001112707.1:c.75T>C, XM_047435183.1:c.75T>C, XM_047435177.1:c.216T>C, XM_047435185.1:c.75T>C, XM_047435178.1:c.216T>C, NM_001375269.1:c.213T>C, XM_047435181.1:c.216T>C, XM_047435187.1:c.-98T>C, NM_001284363.1:c.75T>C

Select item 148398862312.

rs1483988623 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:62606163 (GRCh38)
17:60683524 (GRCh37)
Canonical SPDI:: NC_000017.11:62606162:A:G
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000248/4 (TOMMO)
HGVS:: NC_000017.11:g.62606163A>G, NC_000017.10:g.60683524A>G, NM_006852.6:c.1893A>G, NM_006852.5:c.1893A>G, NM_006852.4:c.1893A>G, NM_006852.3:c.1893A>G, XM_011524222.4:c.1959A>G, XM_011524222.3:c.1959A>G, XM_011524222.2:c.1959A>G, XM_011524222.1:c.1959A>G, XM_011524223.4:c.1770A>G, XM_011524223.3:c.1770A>G, XM_011524223.2:c.1770A>G, XM_011524223.1:c.1770A>G, XM_017024048.3:c.1863A>G, XM_017024048.2:c.1863A>G, XM_017024048.1:c.1863A>G, XM_017024049.3:c.1863A>G, XM_017024049.2:c.1863A>G, XM_017024049.1:c.1863A>G, XM_017024051.3:c.1797A>G, XM_017024051.2:c.1797A>G, XM_017024051.1:c.1797A>G, XM_011524216.3:c.1959A>G, XM_011524216.2:c.1959A>G, XM_011524216.1:c.1959A>G, XM_017024054.3:c.1704A>G, XM_017024054.2:c.1704A>G, XM_017024054.1:c.1704A>G, XM_011524221.3:c.1863A>G, XM_011524221.2:c.1863A>G, XM_011524221.1:c.1863A>G, NM_001284333.3:c.1959A>G, NM_001284333.2:c.1959A>G, NM_001284333.1:c.1959A>G, NM_001330418.3:c.1446A>G, NM_001330418.2:c.1446A>G, NM_001330418.1:c.1446A>G, XM_017024055.3:c.1608A>G, XM_017024055.2:c.1608A>G, XM_017024055.1:c.1608A>G, XM_017024053.3:c.1797A>G, XM_017024053.2:c.1797A>G, XM_017024053.1:c.1797A>G, XM_011524215.3:c.2007A>G, XM_011524215.2:c.1866A>G, XM_011524215.1:c.1866A>G, XM_011524226.3:c.1647A>G, XM_011524226.2:c.1647A>G, XM_011524226.1:c.1647A>G, XM_011524218.3:c.1941A>G, XM_011524218.2:c.1800A>G, XM_011524218.1:c.1800A>G, XM_011524227.3:c.1647A>G, XM_011524227.2:c.1647A>G, XM_011524227.1:c.1647A>G, XM_011524220.3:c.1911A>G, XM_011524220.2:c.1770A>G, XM_011524220.1:c.1770A>G, XM_024450553.2:c.1959A>G, XM_024450553.1:c.1959A>G, XM_024450552.2:c.1980A>G, XM_024450552.1:c.1980A>G, XM_017024044.2:c.2031A>G, XM_017024044.1:c.1893A>G, XM_017024050.2:c.1842A>G, XM_017024050.1:c.1842A>G, XM_047435186.1:c.1647A>G, NM_001375273.1:c.1446A>G, NM_001375270.1:c.1893A>G, NM_001375272.1:c.1797A>G, XM_047435179.1:c.1893A>G, NM_001375271.1:c.1893A>G, XM_047435180.1:c.1863A>G, XM_047435174.1:c.2100A>G, XM_047435175.1:c.2097A>G, XM_047435188.1:c.1608A>G, NM_001411074.1:c.1608A>G, XM_047435182.1:c.1797A>G, XM_047435176.1:c.2034A>G, NM_001112707.1:c.1797A>G, XM_047435183.1:c.1770A>G, XM_047435177.1:c.2004A>G, XM_047435185.1:c.1704A>G, XM_047435178.1:c.1938A>G, NM_001375269.1:c.1935A>G, XM_047435181.1:c.1845A>G, XM_047435187.1:c.1647A>G, NM_001284363.1:c.1797A>G

Select item 148336948413.

rs1483369484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:62613936 (GRCh38)
17:60691297 (GRCh37)
Canonical SPDI:: NC_000017.11:62613935:C:G
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.62613936C>G, NC_000017.10:g.60691297C>G, NM_006852.6:c.*1371C>G, NM_006852.5:c.*1371C>G, NM_006852.4:c.*1371C>G, NM_006852.3:c.*1371C>G, XM_011524222.4:c.*1371C>G, XM_011524222.3:c.*1371C>G, XM_011524222.2:c.*1371C>G, XM_011524222.1:c.*1371C>G, XM_011524223.4:c.*1371C>G, XM_011524223.3:c.*1371C>G, XM_011524223.2:c.*1371C>G, XM_011524223.1:c.*1371C>G, XM_017024048.3:c.*1371C>G, XM_017024048.2:c.*1371C>G, XM_017024048.1:c.*1371C>G, XM_017024049.3:c.*1371C>G, XM_017024049.2:c.*1371C>G, XM_017024049.1:c.*1371C>G, XM_017024051.3:c.*1371C>G, XM_017024051.2:c.*1371C>G, XM_017024051.1:c.*1371C>G, XM_011524216.3:c.*1371C>G, XM_011524216.2:c.*1371C>G, XM_011524216.1:c.*1371C>G, XM_017024054.3:c.*1371C>G, XM_017024054.2:c.*1371C>G, XM_017024054.1:c.*1371C>G, XM_011524221.3:c.*1371C>G, XM_011524221.2:c.*1371C>G, XM_011524221.1:c.*1371C>G, NM_001284333.3:c.*1371C>G, NM_001284333.2:c.*1371C>G, NM_001284333.1:c.*1371C>G, NM_001330418.3:c.*1371C>G, NM_001330418.2:c.*1371C>G, NM_001330418.1:c.*1371C>G, XM_017024055.3:c.*1371C>G, XM_017024055.2:c.*1371C>G, XM_017024055.1:c.*1371C>G, XM_017024053.3:c.*1371C>G, XM_017024053.2:c.*1371C>G, XM_017024053.1:c.*1371C>G, XM_011524215.3:c.*1371C>G, XM_011524215.2:c.*1371C>G, XM_011524215.1:c.*1371C>G, XM_011524226.3:c.*1371C>G, XM_011524226.2:c.*1371C>G, XM_011524226.1:c.*1371C>G, XM_011524218.3:c.*1371C>G, XM_011524218.2:c.*1371C>G, XM_011524218.1:c.*1371C>G, XM_011524227.3:c.*1371C>G, XM_011524227.2:c.*1371C>G, XM_011524227.1:c.*1371C>G, XM_011524220.3:c.*1371C>G, XM_011524220.2:c.*1371C>G, XM_011524220.1:c.*1371C>G, XM_024450553.2:c.*1371C>G, XM_024450553.1:c.*1371C>G, XM_024450552.2:c.*1371C>G, XM_024450552.1:c.*1371C>G, XM_017024044.2:c.*1371C>G, XM_017024044.1:c.*1371C>G, XM_017024050.2:c.*1371C>G, XM_017024050.1:c.*1371C>G, XM_047435186.1:c.*1371C>G, NM_001375273.1:c.*1371C>G, NM_001375270.1:c.*1371C>G, NM_001375272.1:c.*1371C>G, XM_047435179.1:c.*1371C>G, NM_001375271.1:c.*1371C>G, XM_047435180.1:c.*1371C>G, XM_047435174.1:c.*1371C>G, XM_047435175.1:c.*1371C>G, XM_047435188.1:c.*1371C>G, NM_001411074.1:c.*1371C>G, XM_047435182.1:c.*1371C>G, XM_047435176.1:c.*1371C>G, NM_001112707.1:c.*1371C>G, XM_047435183.1:c.*1371C>G, XM_047435177.1:c.*1371C>G, XM_047435185.1:c.*1371C>G, XM_047435178.1:c.*1371C>G, NM_001375269.1:c.*1371C>G, XM_047435181.1:c.*1371C>G, XM_047435187.1:c.*1371C>G, NM_001284363.1:c.*1371C>G

Select item 148292018214.

rs1482920182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:62613255 (GRCh38)
17:60690616 (GRCh37)
Canonical SPDI:: NC_000017.11:62613254:C:T
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.62613255C>T, NC_000017.10:g.60690616C>T, NM_006852.6:c.*690C>T, NM_006852.5:c.*690C>T, NM_006852.4:c.*690C>T, NM_006852.3:c.*690C>T, XM_011524222.4:c.*690C>T, XM_011524222.3:c.*690C>T, XM_011524222.2:c.*690C>T, XM_011524222.1:c.*690C>T, XM_011524223.4:c.*690C>T, XM_011524223.3:c.*690C>T, XM_011524223.2:c.*690C>T, XM_011524223.1:c.*690C>T, XM_017024048.3:c.*690C>T, XM_017024048.2:c.*690C>T, XM_017024048.1:c.*690C>T, XM_017024049.3:c.*690C>T, XM_017024049.2:c.*690C>T, XM_017024049.1:c.*690C>T, XM_017024051.3:c.*690C>T, XM_017024051.2:c.*690C>T, XM_017024051.1:c.*690C>T, XM_011524216.3:c.*690C>T, XM_011524216.2:c.*690C>T, XM_011524216.1:c.*690C>T, XM_017024054.3:c.*690C>T, XM_017024054.2:c.*690C>T, XM_017024054.1:c.*690C>T, XM_011524221.3:c.*690C>T, XM_011524221.2:c.*690C>T, XM_011524221.1:c.*690C>T, NM_001284333.3:c.*690C>T, NM_001284333.2:c.*690C>T, NM_001284333.1:c.*690C>T, NM_001330418.3:c.*690C>T, NM_001330418.2:c.*690C>T, NM_001330418.1:c.*690C>T, XM_017024055.3:c.*690C>T, XM_017024055.2:c.*690C>T, XM_017024055.1:c.*690C>T, XM_017024053.3:c.*690C>T, XM_017024053.2:c.*690C>T, XM_017024053.1:c.*690C>T, XM_011524215.3:c.*690C>T, XM_011524215.2:c.*690C>T, XM_011524215.1:c.*690C>T, XM_011524226.3:c.*690C>T, XM_011524226.2:c.*690C>T, XM_011524226.1:c.*690C>T, XM_011524218.3:c.*690C>T, XM_011524218.2:c.*690C>T, XM_011524218.1:c.*690C>T, XM_011524227.3:c.*690C>T, XM_011524227.2:c.*690C>T, XM_011524227.1:c.*690C>T, XM_011524220.3:c.*690C>T, XM_011524220.2:c.*690C>T, XM_011524220.1:c.*690C>T, XM_024450553.2:c.*690C>T, XM_024450553.1:c.*690C>T, XM_024450552.2:c.*690C>T, XM_024450552.1:c.*690C>T, XM_017024044.2:c.*690C>T, XM_017024044.1:c.*690C>T, XM_017024050.2:c.*690C>T, XM_017024050.1:c.*690C>T, XM_047435186.1:c.*690C>T, NM_001375273.1:c.*690C>T, NM_001375270.1:c.*690C>T, NM_001375272.1:c.*690C>T, XM_047435179.1:c.*690C>T, NM_001375271.1:c.*690C>T, XM_047435180.1:c.*690C>T, XM_047435174.1:c.*690C>T, XM_047435175.1:c.*690C>T, XM_047435188.1:c.*690C>T, NM_001411074.1:c.*690C>T, XM_047435182.1:c.*690C>T, XM_047435176.1:c.*690C>T, NM_001112707.1:c.*690C>T, XM_047435183.1:c.*690C>T, XM_047435177.1:c.*690C>T, XM_047435185.1:c.*690C>T, XM_047435178.1:c.*690C>T, NM_001375269.1:c.*690C>T, XM_047435181.1:c.*690C>T, XM_047435187.1:c.*690C>T, NM_001284363.1:c.*690C>T

Select item 148158408515.

rs1481584085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:62615018 (GRCh38)
17:60692379 (GRCh37)
Canonical SPDI:: NC_000017.11:62615017:C:G
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.62615018C>G, NC_000017.10:g.60692379C>G, NM_006852.6:c.*2453C>G, NM_006852.5:c.*2453C>G, NM_006852.4:c.*2453C>G, NM_006852.3:c.*2453C>G, XM_011524222.4:c.*2453C>G, XM_011524222.3:c.*2453C>G, XM_011524222.2:c.*2453C>G, XM_011524222.1:c.*2453C>G, XM_011524223.4:c.*2453C>G, XM_011524223.3:c.*2453C>G, XM_011524223.2:c.*2453C>G, XM_011524223.1:c.*2453C>G, XM_017024048.3:c.*2453C>G, XM_017024048.2:c.*2453C>G, XM_017024048.1:c.*2453C>G, XM_017024049.3:c.*2453C>G, XM_017024049.2:c.*2453C>G, XM_017024049.1:c.*2453C>G, XM_017024051.3:c.*2453C>G, XM_017024051.2:c.*2453C>G, XM_017024051.1:c.*2453C>G, XM_011524216.3:c.*2453C>G, XM_011524216.2:c.*2453C>G, XM_011524216.1:c.*2453C>G, XM_017024054.3:c.*2453C>G, XM_017024054.2:c.*2453C>G, XM_017024054.1:c.*2453C>G, XM_011524221.3:c.*2453C>G, XM_011524221.2:c.*2453C>G, XM_011524221.1:c.*2453C>G, NM_001284333.3:c.*2453C>G, NM_001284333.2:c.*2453C>G, NM_001284333.1:c.*2453C>G, NM_001330418.3:c.*2453C>G, NM_001330418.2:c.*2453C>G, NM_001330418.1:c.*2453C>G, XM_017024055.3:c.*2453C>G, XM_017024055.2:c.*2453C>G, XM_017024055.1:c.*2453C>G, XM_017024053.3:c.*2453C>G, XM_017024053.2:c.*2453C>G, XM_017024053.1:c.*2453C>G, XM_011524215.3:c.*2453C>G, XM_011524215.2:c.*2453C>G, XM_011524215.1:c.*2453C>G, XM_011524226.3:c.*2453C>G, XM_011524226.2:c.*2453C>G, XM_011524226.1:c.*2453C>G, XM_011524218.3:c.*2453C>G, XM_011524218.2:c.*2453C>G, XM_011524218.1:c.*2453C>G, XM_011524227.3:c.*2453C>G, XM_011524227.2:c.*2453C>G, XM_011524227.1:c.*2453C>G, XM_011524220.3:c.*2453C>G, XM_011524220.2:c.*2453C>G, XM_011524220.1:c.*2453C>G, XM_024450553.2:c.*2453C>G, XM_024450553.1:c.*2453C>G, XM_024450552.2:c.*2453C>G, XM_024450552.1:c.*2453C>G, XM_017024044.2:c.*2453C>G, XM_017024044.1:c.*2453C>G, XM_017024050.2:c.*2453C>G, XM_017024050.1:c.*2453C>G, XM_047435186.1:c.*2453C>G, NM_001375273.1:c.*2453C>G, NM_001375270.1:c.*2453C>G, NM_001375272.1:c.*2453C>G, XM_047435179.1:c.*2453C>G, NM_001375271.1:c.*2453C>G, XM_047435180.1:c.*2453C>G, XM_047435174.1:c.*2453C>G, XM_047435175.1:c.*2453C>G, XM_047435188.1:c.*2453C>G, NM_001411074.1:c.*2453C>G, XM_047435182.1:c.*2453C>G, XM_047435176.1:c.*2453C>G, NM_001112707.1:c.*2453C>G, XM_047435183.1:c.*2453C>G, XM_047435177.1:c.*2453C>G, XM_047435185.1:c.*2453C>G, XM_047435178.1:c.*2453C>G, NM_001375269.1:c.*2453C>G, XM_047435181.1:c.*2453C>G, XM_047435187.1:c.*2453C>G, NM_001284363.1:c.*2453C>G

Select item 147901477216.

rs1479014772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:62600771 (GRCh38)
17:60678132 (GRCh37)
Canonical SPDI:: NC_000017.11:62600770:G:A
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.62600771G>A, NC_000017.10:g.60678132G>A, NM_006852.6:c.1671G>A, NM_006852.5:c.1671G>A, NM_006852.4:c.1671G>A, NM_006852.3:c.1671G>A, XM_011524222.4:c.1737G>A, XM_011524222.3:c.1737G>A, XM_011524222.2:c.1737G>A, XM_011524222.1:c.1737G>A, XM_011524223.4:c.1548G>A, XM_011524223.3:c.1548G>A, XM_011524223.2:c.1548G>A, XM_011524223.1:c.1548G>A, XM_017024048.3:c.1641G>A, XM_017024048.2:c.1641G>A, XM_017024048.1:c.1641G>A, XM_017024049.3:c.1641G>A, XM_017024049.2:c.1641G>A, XM_017024049.1:c.1641G>A, XM_017024051.3:c.1575G>A, XM_017024051.2:c.1575G>A, XM_017024051.1:c.1575G>A, XM_011524216.3:c.1737G>A, XM_011524216.2:c.1737G>A, XM_011524216.1:c.1737G>A, XM_017024054.3:c.1482G>A, XM_017024054.2:c.1482G>A, XM_017024054.1:c.1482G>A, XM_011524221.3:c.1641G>A, XM_011524221.2:c.1641G>A, XM_011524221.1:c.1641G>A, NM_001284333.3:c.1737G>A, NM_001284333.2:c.1737G>A, NM_001284333.1:c.1737G>A, NM_001330418.3:c.1224G>A, NM_001330418.2:c.1224G>A, NM_001330418.1:c.1224G>A, XM_017024055.3:c.1386G>A, XM_017024055.2:c.1386G>A, XM_017024055.1:c.1386G>A, XM_017024053.3:c.1575G>A, XM_017024053.2:c.1575G>A, XM_017024053.1:c.1575G>A, XM_011524215.3:c.1785G>A, XM_011524215.2:c.1644G>A, XM_011524215.1:c.1644G>A, XM_011524226.3:c.1425G>A, XM_011524226.2:c.1425G>A, XM_011524226.1:c.1425G>A, XM_011524218.3:c.1719G>A, XM_011524218.2:c.1578G>A, XM_011524218.1:c.1578G>A, XM_011524227.3:c.1425G>A, XM_011524227.2:c.1425G>A, XM_011524227.1:c.1425G>A, XM_011524220.3:c.1689G>A, XM_011524220.2:c.1548G>A, XM_011524220.1:c.1548G>A, XM_024450553.2:c.1737G>A, XM_024450553.1:c.1737G>A, XM_024450552.2:c.1758G>A, XM_024450552.1:c.1758G>A, XM_017024044.2:c.1809G>A, XM_017024044.1:c.1671G>A, XM_017024050.2:c.1620G>A, XM_017024050.1:c.1620G>A, XM_047435186.1:c.1425G>A, NM_001375273.1:c.1224G>A, NM_001375270.1:c.1671G>A, NM_001375272.1:c.1575G>A, XM_047435179.1:c.1671G>A, NM_001375271.1:c.1671G>A, XM_047435180.1:c.1641G>A, XM_047435174.1:c.1878G>A, XM_047435175.1:c.1875G>A, XM_047435188.1:c.1386G>A, NM_001411074.1:c.1386G>A, XM_047435182.1:c.1575G>A, XM_047435176.1:c.1812G>A, NM_001112707.1:c.1575G>A, XM_047435183.1:c.1548G>A, XM_047435177.1:c.1782G>A, XM_047435185.1:c.1482G>A, XM_047435178.1:c.1716G>A, NM_001375269.1:c.1713G>A, XM_047435181.1:c.1623G>A, XM_047435187.1:c.1425G>A, NM_001284363.1:c.1575G>A

Select item 147853604217.

rs1478536042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:62615207 (GRCh38)
17:60692568 (GRCh37)
Canonical SPDI:: NC_000017.11:62615206:G:A
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.62615207G>A, NC_000017.10:g.60692568G>A, NM_006852.6:c.*2642G>A, NM_006852.5:c.*2642G>A, NM_006852.4:c.*2642G>A, NM_006852.3:c.*2642G>A, XM_011524222.4:c.*2642G>A, XM_011524222.3:c.*2642G>A, XM_011524222.2:c.*2642G>A, XM_011524222.1:c.*2642G>A, XM_011524223.4:c.*2642G>A, XM_011524223.3:c.*2642G>A, XM_011524223.2:c.*2642G>A, XM_011524223.1:c.*2642G>A, XM_017024048.3:c.*2642G>A, XM_017024048.2:c.*2642G>A, XM_017024048.1:c.*2642G>A, XM_017024049.3:c.*2642G>A, XM_017024049.2:c.*2642G>A, XM_017024049.1:c.*2642G>A, XM_017024051.3:c.*2642G>A, XM_017024051.2:c.*2642G>A, XM_017024051.1:c.*2642G>A, XM_011524216.3:c.*2642G>A, XM_011524216.2:c.*2642G>A, XM_011524216.1:c.*2642G>A, XM_017024054.3:c.*2642G>A, XM_017024054.2:c.*2642G>A, XM_017024054.1:c.*2642G>A, XM_011524221.3:c.*2642G>A, XM_011524221.2:c.*2642G>A, XM_011524221.1:c.*2642G>A, NM_001284333.3:c.*2642G>A, NM_001284333.2:c.*2642G>A, NM_001284333.1:c.*2642G>A, NM_001330418.3:c.*2642G>A, NM_001330418.2:c.*2642G>A, NM_001330418.1:c.*2642G>A, XM_017024055.3:c.*2642G>A, XM_017024055.2:c.*2642G>A, XM_017024055.1:c.*2642G>A, XM_017024053.3:c.*2642G>A, XM_017024053.2:c.*2642G>A, XM_017024053.1:c.*2642G>A, XM_011524215.3:c.*2642G>A, XM_011524215.2:c.*2642G>A, XM_011524215.1:c.*2642G>A, XM_011524226.3:c.*2642G>A, XM_011524226.2:c.*2642G>A, XM_011524226.1:c.*2642G>A, XM_011524218.3:c.*2642G>A, XM_011524218.2:c.*2642G>A, XM_011524218.1:c.*2642G>A, XM_011524227.3:c.*2642G>A, XM_011524227.2:c.*2642G>A, XM_011524227.1:c.*2642G>A, XM_011524220.3:c.*2642G>A, XM_011524220.2:c.*2642G>A, XM_011524220.1:c.*2642G>A, XM_024450553.2:c.*2642G>A, XM_024450553.1:c.*2642G>A, XM_024450552.2:c.*2642G>A, XM_024450552.1:c.*2642G>A, XM_017024044.2:c.*2642G>A, XM_017024044.1:c.*2642G>A, XM_017024050.2:c.*2642G>A, XM_017024050.1:c.*2642G>A, XM_047435186.1:c.*2642G>A, NM_001375273.1:c.*2642G>A, NM_001375270.1:c.*2642G>A, NM_001375272.1:c.*2642G>A, XM_047435179.1:c.*2642G>A, NM_001375271.1:c.*2642G>A, XM_047435180.1:c.*2642G>A, XM_047435174.1:c.*2642G>A, XM_047435175.1:c.*2642G>A, XM_047435188.1:c.*2642G>A, NM_001411074.1:c.*2642G>A, XM_047435182.1:c.*2642G>A, XM_047435176.1:c.*2642G>A, NM_001112707.1:c.*2642G>A, XM_047435183.1:c.*2642G>A, XM_047435177.1:c.*2642G>A, XM_047435185.1:c.*2642G>A, XM_047435178.1:c.*2642G>A, NM_001375269.1:c.*2642G>A, XM_047435181.1:c.*2642G>A, XM_047435187.1:c.*2642G>A, NM_001284363.1:c.*2642G>A

Select item 147814450218.

rs1478144502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:62613551 (GRCh38)
17:60690912 (GRCh37)
Canonical SPDI:: NC_000017.11:62613550:G:C
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.62613551G>C, NC_000017.10:g.60690912G>C, NM_006852.6:c.*986G>C, NM_006852.5:c.*986G>C, NM_006852.4:c.*986G>C, NM_006852.3:c.*986G>C, XM_011524222.4:c.*986G>C, XM_011524222.3:c.*986G>C, XM_011524222.2:c.*986G>C, XM_011524222.1:c.*986G>C, XM_011524223.4:c.*986G>C, XM_011524223.3:c.*986G>C, XM_011524223.2:c.*986G>C, XM_011524223.1:c.*986G>C, XM_017024048.3:c.*986G>C, XM_017024048.2:c.*986G>C, XM_017024048.1:c.*986G>C, XM_017024049.3:c.*986G>C, XM_017024049.2:c.*986G>C, XM_017024049.1:c.*986G>C, XM_017024051.3:c.*986G>C, XM_017024051.2:c.*986G>C, XM_017024051.1:c.*986G>C, XM_011524216.3:c.*986G>C, XM_011524216.2:c.*986G>C, XM_011524216.1:c.*986G>C, XM_017024054.3:c.*986G>C, XM_017024054.2:c.*986G>C, XM_017024054.1:c.*986G>C, XM_011524221.3:c.*986G>C, XM_011524221.2:c.*986G>C, XM_011524221.1:c.*986G>C, NM_001284333.3:c.*986G>C, NM_001284333.2:c.*986G>C, NM_001284333.1:c.*986G>C, NM_001330418.3:c.*986G>C, NM_001330418.2:c.*986G>C, NM_001330418.1:c.*986G>C, XM_017024055.3:c.*986G>C, XM_017024055.2:c.*986G>C, XM_017024055.1:c.*986G>C, XM_017024053.3:c.*986G>C, XM_017024053.2:c.*986G>C, XM_017024053.1:c.*986G>C, XM_011524215.3:c.*986G>C, XM_011524215.2:c.*986G>C, XM_011524215.1:c.*986G>C, XM_011524226.3:c.*986G>C, XM_011524226.2:c.*986G>C, XM_011524226.1:c.*986G>C, XM_011524218.3:c.*986G>C, XM_011524218.2:c.*986G>C, XM_011524218.1:c.*986G>C, XM_011524227.3:c.*986G>C, XM_011524227.2:c.*986G>C, XM_011524227.1:c.*986G>C, XM_011524220.3:c.*986G>C, XM_011524220.2:c.*986G>C, XM_011524220.1:c.*986G>C, XM_024450553.2:c.*986G>C, XM_024450553.1:c.*986G>C, XM_024450552.2:c.*986G>C, XM_024450552.1:c.*986G>C, XM_017024044.2:c.*986G>C, XM_017024044.1:c.*986G>C, XM_017024050.2:c.*986G>C, XM_017024050.1:c.*986G>C, XM_047435186.1:c.*986G>C, NM_001375273.1:c.*986G>C, NM_001375270.1:c.*986G>C, NM_001375272.1:c.*986G>C, XM_047435179.1:c.*986G>C, NM_001375271.1:c.*986G>C, XM_047435180.1:c.*986G>C, XM_047435174.1:c.*986G>C, XM_047435175.1:c.*986G>C, XM_047435188.1:c.*986G>C, NM_001411074.1:c.*986G>C, XM_047435182.1:c.*986G>C, XM_047435176.1:c.*986G>C, NM_001112707.1:c.*986G>C, XM_047435183.1:c.*986G>C, XM_047435177.1:c.*986G>C, XM_047435185.1:c.*986G>C, XM_047435178.1:c.*986G>C, NM_001375269.1:c.*986G>C, XM_047435181.1:c.*986G>C, XM_047435187.1:c.*986G>C, NM_001284363.1:c.*986G>C

Select item 147786482919.

rs1477864829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:62613174 (GRCh38)
17:60690535 (GRCh37)
Canonical SPDI:: NC_000017.11:62613173:G:C
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.62613174G>C, NC_000017.10:g.60690535G>C, NM_006852.6:c.*609G>C, NM_006852.5:c.*609G>C, NM_006852.4:c.*609G>C, NM_006852.3:c.*609G>C, XM_011524222.4:c.*609G>C, XM_011524222.3:c.*609G>C, XM_011524222.2:c.*609G>C, XM_011524222.1:c.*609G>C, XM_011524223.4:c.*609G>C, XM_011524223.3:c.*609G>C, XM_011524223.2:c.*609G>C, XM_011524223.1:c.*609G>C, XM_017024048.3:c.*609G>C, XM_017024048.2:c.*609G>C, XM_017024048.1:c.*609G>C, XM_017024049.3:c.*609G>C, XM_017024049.2:c.*609G>C, XM_017024049.1:c.*609G>C, XM_017024051.3:c.*609G>C, XM_017024051.2:c.*609G>C, XM_017024051.1:c.*609G>C, XM_011524216.3:c.*609G>C, XM_011524216.2:c.*609G>C, XM_011524216.1:c.*609G>C, XM_017024054.3:c.*609G>C, XM_017024054.2:c.*609G>C, XM_017024054.1:c.*609G>C, XM_011524221.3:c.*609G>C, XM_011524221.2:c.*609G>C, XM_011524221.1:c.*609G>C, NM_001284333.3:c.*609G>C, NM_001284333.2:c.*609G>C, NM_001284333.1:c.*609G>C, NM_001330418.3:c.*609G>C, NM_001330418.2:c.*609G>C, NM_001330418.1:c.*609G>C, XM_017024055.3:c.*609G>C, XM_017024055.2:c.*609G>C, XM_017024055.1:c.*609G>C, XM_017024053.3:c.*609G>C, XM_017024053.2:c.*609G>C, XM_017024053.1:c.*609G>C, XM_011524215.3:c.*609G>C, XM_011524215.2:c.*609G>C, XM_011524215.1:c.*609G>C, XM_011524226.3:c.*609G>C, XM_011524226.2:c.*609G>C, XM_011524226.1:c.*609G>C, XM_011524218.3:c.*609G>C, XM_011524218.2:c.*609G>C, XM_011524218.1:c.*609G>C, XM_011524227.3:c.*609G>C, XM_011524227.2:c.*609G>C, XM_011524227.1:c.*609G>C, XM_011524220.3:c.*609G>C, XM_011524220.2:c.*609G>C, XM_011524220.1:c.*609G>C, XM_024450553.2:c.*609G>C, XM_024450553.1:c.*609G>C, XM_024450552.2:c.*609G>C, XM_024450552.1:c.*609G>C, XM_017024044.2:c.*609G>C, XM_017024044.1:c.*609G>C, XM_017024050.2:c.*609G>C, XM_017024050.1:c.*609G>C, XM_047435186.1:c.*609G>C, NM_001375273.1:c.*609G>C, NM_001375270.1:c.*609G>C, NM_001375272.1:c.*609G>C, XM_047435179.1:c.*609G>C, NM_001375271.1:c.*609G>C, XM_047435180.1:c.*609G>C, XM_047435174.1:c.*609G>C, XM_047435175.1:c.*609G>C, XM_047435188.1:c.*609G>C, NM_001411074.1:c.*609G>C, XM_047435182.1:c.*609G>C, XM_047435176.1:c.*609G>C, NM_001112707.1:c.*609G>C, XM_047435183.1:c.*609G>C, XM_047435177.1:c.*609G>C, XM_047435185.1:c.*609G>C, XM_047435178.1:c.*609G>C, NM_001375269.1:c.*609G>C, XM_047435181.1:c.*609G>C, XM_047435187.1:c.*609G>C, NM_001284363.1:c.*609G>C

Select item 147682689120.

rs1476826891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:62613993 (GRCh38)
17:60691354 (GRCh37)
Canonical SPDI:: NC_000017.11:62613992:G:A
Gene:: TLK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.62613993G>A, NC_000017.10:g.60691354G>A, NM_006852.6:c.*1428G>A, NM_006852.5:c.*1428G>A, NM_006852.4:c.*1428G>A, NM_006852.3:c.*1428G>A, XM_011524222.4:c.*1428G>A, XM_011524222.3:c.*1428G>A, XM_011524222.2:c.*1428G>A, XM_011524222.1:c.*1428G>A, XM_011524223.4:c.*1428G>A, XM_011524223.3:c.*1428G>A, XM_011524223.2:c.*1428G>A, XM_011524223.1:c.*1428G>A, XM_017024048.3:c.*1428G>A, XM_017024048.2:c.*1428G>A, XM_017024048.1:c.*1428G>A, XM_017024049.3:c.*1428G>A, XM_017024049.2:c.*1428G>A, XM_017024049.1:c.*1428G>A, XM_017024051.3:c.*1428G>A, XM_017024051.2:c.*1428G>A, XM_017024051.1:c.*1428G>A, XM_011524216.3:c.*1428G>A, XM_011524216.2:c.*1428G>A, XM_011524216.1:c.*1428G>A, XM_017024054.3:c.*1428G>A, XM_017024054.2:c.*1428G>A, XM_017024054.1:c.*1428G>A, XM_011524221.3:c.*1428G>A, XM_011524221.2:c.*1428G>A, XM_011524221.1:c.*1428G>A, NM_001284333.3:c.*1428G>A, NM_001284333.2:c.*1428G>A, NM_001284333.1:c.*1428G>A, NM_001330418.3:c.*1428G>A, NM_001330418.2:c.*1428G>A, NM_001330418.1:c.*1428G>A, XM_017024055.3:c.*1428G>A, XM_017024055.2:c.*1428G>A, XM_017024055.1:c.*1428G>A, XM_017024053.3:c.*1428G>A, XM_017024053.2:c.*1428G>A, XM_017024053.1:c.*1428G>A, XM_011524215.3:c.*1428G>A, XM_011524215.2:c.*1428G>A, XM_011524215.1:c.*1428G>A, XM_011524226.3:c.*1428G>A, XM_011524226.2:c.*1428G>A, XM_011524226.1:c.*1428G>A, XM_011524218.3:c.*1428G>A, XM_011524218.2:c.*1428G>A, XM_011524218.1:c.*1428G>A, XM_011524227.3:c.*1428G>A, XM_011524227.2:c.*1428G>A, XM_011524227.1:c.*1428G>A, XM_011524220.3:c.*1428G>A, XM_011524220.2:c.*1428G>A, XM_011524220.1:c.*1428G>A, XM_024450553.2:c.*1428G>A, XM_024450553.1:c.*1428G>A, XM_024450552.2:c.*1428G>A, XM_024450552.1:c.*1428G>A, XM_017024044.2:c.*1428G>A, XM_017024044.1:c.*1428G>A, XM_017024050.2:c.*1428G>A, XM_017024050.1:c.*1428G>A, XM_047435186.1:c.*1428G>A, NM_001375273.1:c.*1428G>A, NM_001375270.1:c.*1428G>A, NM_001375272.1:c.*1428G>A, XM_047435179.1:c.*1428G>A, NM_001375271.1:c.*1428G>A, XM_047435180.1:c.*1428G>A, XM_047435174.1:c.*1428G>A, XM_047435175.1:c.*1428G>A, XM_047435188.1:c.*1428G>A, NM_001411074.1:c.*1428G>A, XM_047435182.1:c.*1428G>A, XM_047435176.1:c.*1428G>A, NM_001112707.1:c.*1428G>A, XM_047435183.1:c.*1428G>A, XM_047435177.1:c.*1428G>A, XM_047435185.1:c.*1428G>A, XM_047435178.1:c.*1428G>A, NM_001375269.1:c.*1428G>A, XM_047435181.1:c.*1428G>A, XM_047435187.1:c.*1428G>A, NM_001284363.1:c.*1428G>A

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