SNP Links for Nucleotide (Select 1220516030) - SNP - NCBI

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Links from Nucleotide

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Select item 14896892261.

rs1489689226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:46917903 (GRCh38)
18:44497866 (GRCh37)
Canonical SPDI:: NC_000018.10:46917902:G:T
Gene:: PIAS2 (Varview), KATNAL2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.46917903G>T, NC_000018.9:g.44497866G>T, NG_029865.2:g.4630C>A, XM_011526221.4:c.-184G>T, XM_011526221.3:c.-184G>T, XM_011526221.2:c.-184G>T, XM_011526221.1:c.-184G>T, XM_011526219.4:c.-184G>T, XM_011526219.3:c.-184G>T, XM_011526219.2:c.-184G>T, XM_011526219.1:c.-184G>T, XM_011526223.4:c.-184G>T, XM_011526223.3:c.-184G>T, XM_011526223.2:c.-184G>T, XM_011526223.1:c.-184G>T, XM_011526220.3:c.-184G>T, XM_011526220.2:c.-184G>T, XM_011526220.1:c.-184G>T, NR_148563.1:n.310G>T, NM_001387690.1:c.-533G>T, NM_001353899.1:c.-184G>T, NM_001353900.1:c.-184G>T, NM_001353904.1:c.-585G>T, NM_001353903.1:c.-314G>T, NM_001353901.1:c.-533G>T, XM_047437879.1:c.-184G>T, XM_047437880.1:c.-184G>T, NM_001353907.1:c.-585G>T, NM_001353905.1:c.-607G>T, NM_001353909.1:c.-585G>T, XM_047437878.1:c.-184G>T, NM_001353902.1:c.-184G>T, NM_001353906.1:c.-314G>T, NM_001353908.1:c.-314G>T, XM_047437877.1:c.-184G>T

Select item 14877117002.

rs1487711700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:47099273 (GRCh38)
18:44625644 (GRCh37)
Canonical SPDI:: NC_000018.10:47099272:G:A
Gene:: KATNAL2 (Varview), LOC105372098 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.47099273G>A, NC_000018.9:g.44625644G>A, XM_005258361.4:c.909G>A, XM_005258361.3:c.909G>A, XM_005258361.2:c.909G>A, XM_005258361.1:c.909G>A, NM_031303.3:c.1026G>A, NM_031303.2:c.1026G>A, XM_017026031.2:c.909G>A, XM_017026031.1:c.909G>A, NR_148563.1:n.2202G>A, NM_001387690.1:c.1242G>A, NM_001353899.1:c.1320G>A, NM_001353900.1:c.1317G>A, NM_001353904.1:c.810G>A, NM_001353903.1:c.909G>A, NM_001367621.1:c.1242G>A

Select item 14875448753.

rs1487544875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:46917634 (GRCh38)
18:44497597 (GRCh37)
Canonical SPDI:: NC_000018.10:46917633:G:T
Gene:: PIAS2 (Varview), KATNAL2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.46917634G>T, NC_000018.9:g.44497597G>T, NG_029865.2:g.4899C>A, XM_011526221.4:c.-453G>T, XM_011526221.3:c.-453G>T, XM_011526219.4:c.-453G>T, XM_011526219.3:c.-453G>T, XM_011526223.4:c.-453G>T, XM_011526223.3:c.-453G>T, XM_011526220.3:c.-453G>T, XM_011526220.2:c.-453G>T, NR_148563.1:n.41G>T, NM_001387690.1:c.-802G>T, NM_001353899.1:c.-453G>T, NM_001353900.1:c.-453G>T, NM_001353904.1:c.-854G>T, NM_001353903.1:c.-583G>T, NM_001353901.1:c.-802G>T, XM_047437879.1:c.-453G>T, XM_047437880.1:c.-453G>T, NM_001353907.1:c.-854G>T, NM_001353905.1:c.-876G>T, NM_001353909.1:c.-854G>T, XM_047437878.1:c.-453G>T, NM_001353902.1:c.-453G>T, NM_001353906.1:c.-583G>T, NM_001353908.1:c.-583G>T, XM_047437877.1:c.-453G>T

Select item 14863925904.

rs1486392590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:47069516 (GRCh38)
18:44595887 (GRCh37)
Canonical SPDI:: NC_000018.10:47069515:C:A
Gene:: KATNAL2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.47069516C>A, NC_000018.9:g.44595887C>A, XM_011526221.4:c.1002C>A, XM_011526221.3:c.1002C>A, XM_011526221.2:c.1002C>A, XM_011526221.1:c.1002C>A, XM_005258361.4:c.591C>A, XM_005258361.3:c.591C>A, XM_005258361.2:c.591C>A, XM_005258361.1:c.591C>A, XM_011526219.4:c.1002C>A, XM_011526219.3:c.1002C>A, XM_011526219.2:c.1002C>A, XM_011526219.1:c.1002C>A, XM_011526223.4:c.1002C>A, XM_011526223.3:c.1002C>A, XM_011526223.2:c.1002C>A, XM_011526223.1:c.1002C>A, NM_031303.3:c.708C>A, NM_031303.2:c.708C>A, XM_011526220.3:c.1002C>A, XM_011526220.2:c.1002C>A, XM_011526220.1:c.1002C>A, XM_017026031.2:c.591C>A, XM_017026031.1:c.591C>A, NR_148563.1:n.1393C>A, NM_001387690.1:c.924C>A, NM_001353899.1:c.1002C>A, NM_001353900.1:c.999C>A, NM_001353904.1:c.492C>A, NM_001353903.1:c.591C>A, NM_001367621.1:c.924C>A, NM_001353901.1:c.924C>A, XM_047437879.1:c.1002C>A, XM_047437880.1:c.999C>A, NM_001353907.1:c.591C>A, NM_001353905.1:c.591C>A, NM_001353909.1:c.492C>A, XM_047437878.1:c.999C>A, NM_001353902.1:c.903C>A, NM_001353906.1:c.591C>A, NM_001353908.1:c.492C>A, XM_047437877.1:c.999C>A

Select item 14862202785.

rs1486220278 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:47075284 (GRCh38)
18:44601655 (GRCh37)
Canonical SPDI:: NC_000018.10:47075283:T:C
Gene:: KATNAL2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.47075284T>C, NC_000018.9:g.44601655T>C, XM_011526221.4:c.1094T>C, XM_011526221.3:c.1094T>C, XM_011526221.2:c.1094T>C, XM_011526221.1:c.1094T>C, XM_005258361.4:c.683T>C, XM_005258361.3:c.683T>C, XM_005258361.2:c.683T>C, XM_005258361.1:c.683T>C, XM_011526219.4:c.1094T>C, XM_011526219.3:c.1094T>C, XM_011526219.2:c.1094T>C, XM_011526219.1:c.1094T>C, XM_011526223.4:c.1094T>C, XM_011526223.3:c.1094T>C, XM_011526223.2:c.1094T>C, XM_011526223.1:c.1094T>C, NM_031303.3:c.800T>C, NM_031303.2:c.800T>C, XM_011526220.3:c.1094T>C, XM_011526220.2:c.1094T>C, XM_011526220.1:c.1094T>C, XM_017026031.2:c.683T>C, XM_017026031.1:c.683T>C, NR_148563.1:n.1485T>C, NM_001387690.1:c.1016T>C, NM_001353899.1:c.1094T>C, NM_001353900.1:c.1091T>C, NM_001353904.1:c.584T>C, NM_001353903.1:c.683T>C, NM_001367621.1:c.1016T>C, NM_001353901.1:c.1016T>C, XM_047437879.1:c.1094T>C, XM_047437880.1:c.1091T>C, NM_001353907.1:c.683T>C, NM_001353905.1:c.683T>C, NM_001353909.1:c.584T>C, XM_047437878.1:c.1091T>C, NM_001353902.1:c.995T>C, NM_001353906.1:c.683T>C, NM_001353908.1:c.584T>C, XM_047437877.1:c.1091T>C, XP_011524523.1:p.Phe365Ser, XP_005258418.1:p.Phe228Ser, XP_011524521.1:p.Phe365Ser, XP_011524525.1:p.Phe365Ser, NP_112593.2:p.Phe267Ser, XP_011524522.1:p.Phe365Ser, XP_016881520.1:p.Phe228Ser, NP_001374619.1:p.Phe339Ser, NP_001340828.1:p.Phe365Ser, NP_001340829.1:p.Phe364Ser, NP_001340833.1:p.Phe195Ser, NP_001340832.1:p.Phe228Ser, NP_001354550.1:p.Phe339Ser, NP_001340830.1:p.Phe339Ser, XP_047293835.1:p.Phe365Ser, XP_047293836.1:p.Phe364Ser, NP_001340836.1:p.Phe228Ser, NP_001340834.1:p.Phe228Ser, NP_001340838.1:p.Phe195Ser, XP_047293834.1:p.Phe364Ser, NP_001340831.1:p.Phe332Ser, NP_001340835.1:p.Phe228Ser, NP_001340837.1:p.Phe195Ser, XP_047293833.1:p.Phe364Ser

Select item 14859759196.

rs1485975919 [Homo sapiens]

Variant type:: DEL
Alleles:: GAGGAAACTTGAATA>- [Show Flanks]
Chromosome:: 18:46946060 (GRCh38)
18:44526023 (GRCh37)
Canonical SPDI:: NC_000018.10:46946059:GAGGAAACTTGAATA:
Gene:: KATNAL2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0007/3 (ALFA)
-=0.0004/2 (Estonian)
HGVS:: NC_000018.10:g.46946060_46946074del, NC_000018.9:g.44526023_44526037del, XM_011526221.4:c.-157_-143del, XM_011526221.3:c.-157_-143del, XM_011526221.2:c.-157_-143del, XM_011526221.1:c.-157_-143del, XM_011526219.4:c.-157_-143del, XM_011526219.3:c.-157_-143del, XM_011526219.2:c.-157_-143del, XM_011526219.1:c.-157_-143del, XM_011526223.4:c.-157_-143del, XM_011526223.3:c.-157_-143del, XM_011526223.2:c.-157_-143del, XM_011526223.1:c.-157_-143del, XM_011526220.3:c.-157_-143del, XM_011526220.2:c.-157_-143del, XM_011526220.1:c.-157_-143del, NR_148563.1:n.337_351del, NM_001387690.1:c.-506_-492del, NM_001353899.1:c.-157_-143del, NM_001353900.1:c.-157_-143del, NM_001353904.1:c.-558_-544del, NM_001353903.1:c.-287_-273del, NM_001353901.1:c.-506_-492del, XM_047437879.1:c.-157_-143del, XM_047437880.1:c.-157_-143del, NM_001353907.1:c.-558_-544del, NM_001353905.1:c.-580_-566del, NM_001353909.1:c.-558_-544del, XM_047437878.1:c.-157_-143del, NM_001353902.1:c.-157_-143del, NM_001353906.1:c.-287_-273del, NM_001353908.1:c.-287_-273del, XM_047437877.1:c.-157_-143del

Select item 14856633357.

rs1485663335 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:47101025 (GRCh38)
18:44627396 (GRCh37)
Canonical SPDI:: NC_000018.10:47101024:T:C
Gene:: KATNAL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.47101025T>C, NC_000018.9:g.44627396T>C, XM_005258361.4:c.*20T>C, XM_005258361.3:c.*20T>C, XM_005258361.2:c.*20T>C, XM_005258361.1:c.*20T>C, NM_031303.3:c.*20T>C, NM_031303.2:c.*20T>C, XM_017026031.2:c.*20T>C, XM_017026031.1:c.*20T>C, NR_148563.1:n.2597T>C, NM_001387690.1:c.*20T>C, NM_001353899.1:c.*20T>C, NM_001353900.1:c.*20T>C, NM_001353904.1:c.*20T>C, NM_001353903.1:c.*20T>C, NM_001367621.1:c.*20T>C

Select item 14843571838.

rs1484357183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:47101570 (GRCh38)
18:44627941 (GRCh37)
Canonical SPDI:: NC_000018.10:47101569:C:T
Gene:: KATNAL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.47101570C>T, NC_000018.9:g.44627941C>T, XM_005258361.4:c.*565C>T, XM_005258361.3:c.*565C>T, XM_005258361.2:c.*565C>T, NM_031303.3:c.*565C>T, NM_031303.2:c.*565C>T, XM_017026031.2:c.*565C>T, XM_017026031.1:c.*565C>T, NR_148563.1:n.3142C>T, NM_001387690.1:c.*565C>T, NM_001353899.1:c.*565C>T, NM_001353900.1:c.*565C>T, NM_001353904.1:c.*565C>T, NM_001353903.1:c.*565C>T, NM_001367621.1:c.*565C>T

Select item 14841604429.

rs1484160442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:47075328 (GRCh38)
18:44601699 (GRCh37)
Canonical SPDI:: NC_000018.10:47075327:G:A
Gene:: KATNAL2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.47075328G>A, NC_000018.9:g.44601699G>A, XM_011526221.4:c.1138G>A, XM_011526221.3:c.1138G>A, XM_011526221.2:c.1138G>A, XM_011526221.1:c.1138G>A, XM_005258361.4:c.727G>A, XM_005258361.3:c.727G>A, XM_005258361.2:c.727G>A, XM_005258361.1:c.727G>A, XM_011526219.4:c.1138G>A, XM_011526219.3:c.1138G>A, XM_011526219.2:c.1138G>A, XM_011526219.1:c.1138G>A, XM_011526223.4:c.1138G>A, XM_011526223.3:c.1138G>A, XM_011526223.2:c.1138G>A, XM_011526223.1:c.1138G>A, NM_031303.3:c.844G>A, NM_031303.2:c.844G>A, XM_011526220.3:c.1138G>A, XM_011526220.2:c.1138G>A, XM_011526220.1:c.1138G>A, XM_017026031.2:c.727G>A, XM_017026031.1:c.727G>A, NR_148563.1:n.1529G>A, NM_001387690.1:c.1060G>A, NM_001353899.1:c.1138G>A, NM_001353900.1:c.1135G>A, NM_001353904.1:c.628G>A, NM_001353903.1:c.727G>A, NM_001367621.1:c.1060G>A, NM_001353901.1:c.1060G>A, XM_047437879.1:c.1138G>A, XM_047437880.1:c.1135G>A, NM_001353907.1:c.727G>A, NM_001353905.1:c.727G>A, NM_001353909.1:c.628G>A, XM_047437878.1:c.1135G>A, NM_001353902.1:c.1039G>A, NM_001353906.1:c.727G>A, NM_001353908.1:c.628G>A, XM_047437877.1:c.1135G>A, XP_011524523.1:p.Glu380Lys, XP_005258418.1:p.Glu243Lys, XP_011524521.1:p.Glu380Lys, XP_011524525.1:p.Glu380Lys, NP_112593.2:p.Glu282Lys, XP_011524522.1:p.Glu380Lys, XP_016881520.1:p.Glu243Lys, NP_001374619.1:p.Glu354Lys, NP_001340828.1:p.Glu380Lys, NP_001340829.1:p.Glu379Lys, NP_001340833.1:p.Glu210Lys, NP_001340832.1:p.Glu243Lys, NP_001354550.1:p.Glu354Lys, NP_001340830.1:p.Glu354Lys, XP_047293835.1:p.Glu380Lys, XP_047293836.1:p.Glu379Lys, NP_001340836.1:p.Glu243Lys, NP_001340834.1:p.Glu243Lys, NP_001340838.1:p.Glu210Lys, XP_047293834.1:p.Glu379Lys, NP_001340831.1:p.Glu347Lys, NP_001340835.1:p.Glu243Lys, NP_001340837.1:p.Glu210Lys, XP_047293833.1:p.Glu379Lys

Select item 148383442210.

rs1483834422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:47101160 (GRCh38)
18:44627531 (GRCh37)
Canonical SPDI:: NC_000018.10:47101159:G:T
Gene:: KATNAL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_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_000018.10:g.47101160G>T, NC_000018.9:g.44627531G>T, XM_005258361.4:c.*155G>T, XM_005258361.3:c.*155G>T, XM_005258361.2:c.*155G>T, XM_005258361.1:c.*155G>T, NM_031303.3:c.*155G>T, NM_031303.2:c.*155G>T, XM_017026031.2:c.*155G>T, XM_017026031.1:c.*155G>T, NR_148563.1:n.2732G>T, NM_001387690.1:c.*155G>T, NM_001353899.1:c.*155G>T, NM_001353900.1:c.*155G>T, NM_001353904.1:c.*155G>T, NM_001353903.1:c.*155G>T, NM_001367621.1:c.*155G>T

Select item 148360840711.

rs1483608407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:47077413 (GRCh38)
18:44603784 (GRCh37)
Canonical SPDI:: NC_000018.10:47077412:C:T
Gene:: KATNAL2 (Varview), LOC105372098 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.47077413C>T, NC_000018.9:g.44603784C>T, XM_011526221.4:c.1241C>T, XM_011526221.3:c.1241C>T, XM_011526221.2:c.1241C>T, XM_011526221.1:c.1241C>T, XM_005258361.4:c.830C>T, XM_005258361.3:c.830C>T, XM_005258361.2:c.830C>T, XM_005258361.1:c.830C>T, XM_011526219.4:c.1241C>T, XM_011526219.3:c.1241C>T, XM_011526219.2:c.1241C>T, XM_011526219.1:c.1241C>T, XM_011526223.4:c.1241C>T, XM_011526223.3:c.1241C>T, XM_011526223.2:c.1241C>T, XM_011526223.1:c.1241C>T, NM_031303.3:c.947C>T, NM_031303.2:c.947C>T, XR_935432.3:n.1336G>A, XR_935432.2:n.1055G>A, XR_935432.1:n.1055G>A, XM_011526220.3:c.1241C>T, XM_011526220.2:c.1241C>T, XM_011526220.1:c.1241C>T, XR_002958192.2:n.5010G>A, XR_002958192.1:n.5878G>A, XM_017026031.2:c.830C>T, XM_017026031.1:c.830C>T, NR_148563.1:n.1632C>T, NM_001387690.1:c.1163C>T, NM_001353899.1:c.1241C>T, NM_001353900.1:c.1238C>T, NM_001353904.1:c.731C>T, NM_001353903.1:c.830C>T, NM_001367621.1:c.1163C>T, NM_001353901.1:c.1163C>T, XM_047437879.1:c.1241C>T, XM_047437880.1:c.1238C>T, NM_001353907.1:c.830C>T, NM_001353905.1:c.830C>T, NM_001353909.1:c.731C>T, XM_047437878.1:c.1238C>T, NM_001353902.1:c.1142C>T, NM_001353906.1:c.830C>T, NM_001353908.1:c.731C>T, XM_047437877.1:c.1238C>T, XP_011524523.1:p.Ala414Val, XP_005258418.1:p.Ala277Val, XP_011524521.1:p.Ala414Val, XP_011524525.1:p.Ala414Val, NP_112593.2:p.Ala316Val, XP_011524522.1:p.Ala414Val, XP_016881520.1:p.Ala277Val, NP_001374619.1:p.Ala388Val, NP_001340828.1:p.Ala414Val, NP_001340829.1:p.Ala413Val, NP_001340833.1:p.Ala244Val, NP_001340832.1:p.Ala277Val, NP_001354550.1:p.Ala388Val, NP_001340830.1:p.Ala388Val, XP_047293835.1:p.Ala414Val, XP_047293836.1:p.Ala413Val, NP_001340836.1:p.Ala277Val, NP_001340834.1:p.Ala277Val, NP_001340838.1:p.Ala244Val, XP_047293834.1:p.Ala413Val, NP_001340831.1:p.Ala381Val, NP_001340835.1:p.Ala277Val, NP_001340837.1:p.Ala244Val, XP_047293833.1:p.Ala413Val

Select item 148321432512.

rs1483214325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:46917794 (GRCh38)
18:44497757 (GRCh37)
Canonical SPDI:: NC_000018.10:46917793:G:A,NC_000018.10:46917793:G:C
Gene:: PIAS2 (Varview), KATNAL2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000018.10:g.46917794G>A, NC_000018.10:g.46917794G>C, NC_000018.9:g.44497757G>A, NC_000018.9:g.44497757G>C, NG_029865.2:g.4739C>T, NG_029865.2:g.4739C>G, XM_011526221.4:c.-293G>A, XM_011526221.4:c.-293G>C, XM_011526221.3:c.-293G>A, XM_011526221.3:c.-293G>C, XM_011526221.2:c.-293G>A, XM_011526221.2:c.-293G>C, XM_011526221.1:c.-293G>A, XM_011526221.1:c.-293G>C, XM_011526219.4:c.-293G>A, XM_011526219.4:c.-293G>C, XM_011526219.3:c.-293G>A, XM_011526219.3:c.-293G>C, XM_011526219.2:c.-293G>A, XM_011526219.2:c.-293G>C, XM_011526219.1:c.-293G>A, XM_011526219.1:c.-293G>C, XM_011526223.4:c.-293G>A, XM_011526223.4:c.-293G>C, XM_011526223.3:c.-293G>A, XM_011526223.3:c.-293G>C, XM_011526223.2:c.-293G>A, XM_011526223.2:c.-293G>C, XM_011526223.1:c.-293G>A, XM_011526223.1:c.-293G>C, XM_011526220.3:c.-293G>A, XM_011526220.3:c.-293G>C, XM_011526220.2:c.-293G>A, XM_011526220.2:c.-293G>C, XM_011526220.1:c.-293G>A, XM_011526220.1:c.-293G>C, NR_148563.1:n.201G>A, NR_148563.1:n.201G>C, NM_001387690.1:c.-642G>A, NM_001387690.1:c.-642G>C, NM_001353899.1:c.-293G>A, NM_001353899.1:c.-293G>C, NM_001353900.1:c.-293G>A, NM_001353900.1:c.-293G>C, NM_001353904.1:c.-694G>A, NM_001353904.1:c.-694G>C, NM_001353903.1:c.-423G>A, NM_001353903.1:c.-423G>C, NM_001353901.1:c.-642G>A, NM_001353901.1:c.-642G>C, XM_047437879.1:c.-293G>A, XM_047437879.1:c.-293G>C, XM_047437880.1:c.-293G>A, XM_047437880.1:c.-293G>C, NM_001353907.1:c.-694G>A, NM_001353907.1:c.-694G>C, NM_001353905.1:c.-716G>A, NM_001353905.1:c.-716G>C, NM_001353909.1:c.-694G>A, NM_001353909.1:c.-694G>C, XM_047437878.1:c.-293G>A, XM_047437878.1:c.-293G>C, NM_001353902.1:c.-293G>A, NM_001353902.1:c.-293G>C, NM_001353906.1:c.-423G>A, NM_001353906.1:c.-423G>C, NM_001353908.1:c.-423G>A, NM_001353908.1:c.-423G>C, XM_047437877.1:c.-293G>A, XM_047437877.1:c.-293G>C

Select item 148259965113.

rs1482599651 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:47069583 (GRCh38)
18:44595954 (GRCh37)
Canonical SPDI:: NC_000018.10:47069582:T:A
Gene:: KATNAL2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.47069583T>A, NC_000018.9:g.44595954T>A, XM_011526221.4:c.1069T>A, XM_011526221.3:c.1069T>A, XM_011526221.2:c.1069T>A, XM_011526221.1:c.1069T>A, XM_005258361.4:c.658T>A, XM_005258361.3:c.658T>A, XM_005258361.2:c.658T>A, XM_005258361.1:c.658T>A, XM_011526219.4:c.1069T>A, XM_011526219.3:c.1069T>A, XM_011526219.2:c.1069T>A, XM_011526219.1:c.1069T>A, XM_011526223.4:c.1069T>A, XM_011526223.3:c.1069T>A, XM_011526223.2:c.1069T>A, XM_011526223.1:c.1069T>A, NM_031303.3:c.775T>A, NM_031303.2:c.775T>A, XM_011526220.3:c.1069T>A, XM_011526220.2:c.1069T>A, XM_011526220.1:c.1069T>A, XM_017026031.2:c.658T>A, XM_017026031.1:c.658T>A, NR_148563.1:n.1460T>A, NM_001387690.1:c.991T>A, NM_001353899.1:c.1069T>A, NM_001353900.1:c.1066T>A, NM_001353904.1:c.559T>A, NM_001353903.1:c.658T>A, NM_001367621.1:c.991T>A, NM_001353901.1:c.991T>A, XM_047437879.1:c.1069T>A, XM_047437880.1:c.1066T>A, NM_001353907.1:c.658T>A, NM_001353905.1:c.658T>A, NM_001353909.1:c.559T>A, XM_047437878.1:c.1066T>A, NM_001353902.1:c.970T>A, NM_001353906.1:c.658T>A, NM_001353908.1:c.559T>A, XM_047437877.1:c.1066T>A, XP_011524523.1:p.Ser357Thr, XP_005258418.1:p.Ser220Thr, XP_011524521.1:p.Ser357Thr, XP_011524525.1:p.Ser357Thr, NP_112593.2:p.Ser259Thr, XP_011524522.1:p.Ser357Thr, XP_016881520.1:p.Ser220Thr, NP_001374619.1:p.Ser331Thr, NP_001340828.1:p.Ser357Thr, NP_001340829.1:p.Ser356Thr, NP_001340833.1:p.Ser187Thr, NP_001340832.1:p.Ser220Thr, NP_001354550.1:p.Ser331Thr, NP_001340830.1:p.Ser331Thr, XP_047293835.1:p.Ser357Thr, XP_047293836.1:p.Ser356Thr, NP_001340836.1:p.Ser220Thr, NP_001340834.1:p.Ser220Thr, NP_001340838.1:p.Ser187Thr, XP_047293834.1:p.Ser356Thr, NP_001340831.1:p.Ser324Thr, NP_001340835.1:p.Ser220Thr, NP_001340837.1:p.Ser187Thr, XP_047293833.1:p.Ser356Thr

Select item 148130034614.

rs1481300346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:47102232 (GRCh38)
18:44628603 (GRCh37)
Canonical SPDI:: NC_000018.10:47102231:G:T
Gene:: KATNAL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.47102232G>T, NC_000018.9:g.44628603G>T, XM_005258361.4:c.*1227G>T, XM_005258361.3:c.*1227G>T, XM_005258361.2:c.*1227G>T, NM_031303.3:c.*1227G>T, NM_031303.2:c.*1227G>T, XM_017026031.2:c.*1227G>T, XM_017026031.1:c.*1227G>T, NR_148563.1:n.3804G>T, NM_001387690.1:c.*1227G>T, NM_001353899.1:c.*1227G>T, NM_001353900.1:c.*1227G>T, NM_001353904.1:c.*1227G>T, NM_001353903.1:c.*1227G>T, NM_001367621.1:c.*1227G>T

Select item 148124539915.

rs1481245399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:47099369 (GRCh38)
18:44625740 (GRCh37)
Canonical SPDI:: NC_000018.10:47099368:G:A
Gene:: KATNAL2 (Varview), LOC105372098 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.47099369G>A, NC_000018.9:g.44625740G>A, XM_005258361.4:c.1005G>A, XM_005258361.3:c.1005G>A, XM_005258361.2:c.1005G>A, XM_005258361.1:c.1005G>A, NM_031303.3:c.1122G>A, NM_031303.2:c.1122G>A, XM_017026031.2:c.1005G>A, XM_017026031.1:c.1005G>A, NR_148563.1:n.2298G>A, NM_001387690.1:c.1338G>A, NM_001353899.1:c.1416G>A, NM_001353900.1:c.1413G>A, NM_001353904.1:c.906G>A, NM_001353903.1:c.1005G>A, NM_001367621.1:c.1338G>A

Select item 148109736916.

rs1481097369 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:47101057 (GRCh38)
18:44627428 (GRCh37)
Canonical SPDI:: NC_000018.10:47101056:T:G
Gene:: KATNAL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
HGVS:: NC_000018.10:g.47101057T>G, NC_000018.9:g.44627428T>G, XM_005258361.4:c.*52T>G, XM_005258361.3:c.*52T>G, XM_005258361.2:c.*52T>G, XM_005258361.1:c.*52T>G, NM_031303.3:c.*52T>G, NM_031303.2:c.*52T>G, XM_017026031.2:c.*52T>G, XM_017026031.1:c.*52T>G, NR_148563.1:n.2629T>G, NM_001387690.1:c.*52T>G, NM_001353899.1:c.*52T>G, NM_001353900.1:c.*52T>G, NM_001353904.1:c.*52T>G, NM_001353903.1:c.*52T>G, NM_001367621.1:c.*52T>G

Select item 148038114517.

rs1480381145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:47101063 (GRCh38)
18:44627434 (GRCh37)
Canonical SPDI:: NC_000018.10:47101062:A:C
Gene:: KATNAL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
C=0.000684/2 (KOREAN)
HGVS:: NC_000018.10:g.47101063A>C, NC_000018.9:g.44627434A>C, XM_005258361.4:c.*58A>C, XM_005258361.3:c.*58A>C, XM_005258361.2:c.*58A>C, XM_005258361.1:c.*58A>C, NM_031303.3:c.*58A>C, NM_031303.2:c.*58A>C, XM_017026031.2:c.*58A>C, XM_017026031.1:c.*58A>C, NR_148563.1:n.2635A>C, NM_001387690.1:c.*58A>C, NM_001353899.1:c.*58A>C, NM_001353900.1:c.*58A>C, NM_001353904.1:c.*58A>C, NM_001353903.1:c.*58A>C, NM_001367621.1:c.*58A>C

Select item 147934527018.

rs1479345270 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:47101281 (GRCh38)
18:44627652 (GRCh37)
Canonical SPDI:: NC_000018.10:47101280:T:G
Gene:: KATNAL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.47101281T>G, NC_000018.9:g.44627652T>G, XM_005258361.4:c.*276T>G, XM_005258361.3:c.*276T>G, XM_005258361.2:c.*276T>G, XM_005258361.1:c.*276T>G, NM_031303.3:c.*276T>G, NM_031303.2:c.*276T>G, XM_017026031.2:c.*276T>G, XM_017026031.1:c.*276T>G, NR_148563.1:n.2853T>G, NM_001387690.1:c.*276T>G, NM_001353899.1:c.*276T>G, NM_001353900.1:c.*276T>G, NM_001353904.1:c.*276T>G, NM_001353903.1:c.*276T>G, NM_001367621.1:c.*276T>G

Select item 147891755519.

rs1478917555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:46946427 (GRCh38)
18:44526390 (GRCh37)
Canonical SPDI:: NC_000018.10:46946426:T:G
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.46946427T>G, NC_000018.9:g.44526390T>G, NM_001387690.1:c.-139T>G, NM_001353904.1:c.-191T>G, NM_001353901.1:c.-139T>G, NM_001353907.1:c.-191T>G, NM_001353909.1:c.-191T>G

Select item 147819551220.

rs1478195512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:46917628 (GRCh38)
18:44497591 (GRCh37)
Canonical SPDI:: NC_000018.10:46917627:G:A
Gene:: PIAS2 (Varview), KATNAL2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000018.10:g.46917628G>A, NC_000018.9:g.44497591G>A, NG_029865.2:g.4905C>T, XM_011526221.4:c.-459G>A, XM_011526221.3:c.-459G>A, XM_011526219.4:c.-459G>A, XM_011526219.3:c.-459G>A, XM_011526223.4:c.-459G>A, XM_011526223.3:c.-459G>A, XM_011526220.3:c.-459G>A, XM_011526220.2:c.-459G>A, NR_148563.1:n.35G>A, NM_001387690.1:c.-808G>A, NM_001353899.1:c.-459G>A, NM_001353900.1:c.-459G>A, NM_001353904.1:c.-860G>A, NM_001353903.1:c.-589G>A, NM_001353901.1:c.-808G>A, XM_047437879.1:c.-459G>A, XM_047437880.1:c.-459G>A, NM_001353907.1:c.-860G>A, NM_001353905.1:c.-882G>A, NM_001353909.1:c.-860G>A, XM_047437878.1:c.-459G>A, NM_001353902.1:c.-459G>A, NM_001353906.1:c.-589G>A, NM_001353908.1:c.-589G>A, XM_047437877.1:c.-459G>A

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