SNP Links for Protein (Select 239735586) - SNP

Links from Protein

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Select item 14915244431.

rs1491524443 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 3:171194632 (GRCh38)
3:170912421 (GRCh37)
Canonical SPDI:: NC_000003.12:171194631:CC:
Gene:: TNIK (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000008/1 (ExAC)
HGVS:: NC_000003.12:g.171194632_171194633del, NC_000003.11:g.170912421_170912422del, NG_054934.1:g.270776_270777del, NM_015028.4:c.309_310del, NM_015028.3:c.309_310del, NM_015028.2:c.309_310del, NM_001161560.3:c.309_310del, NM_001161560.2:c.309_310del, NM_001161560.1:c.309_310del, NM_001161561.3:c.309_310del, NM_001161561.2:c.309_310del, NM_001161561.1:c.309_310del, NM_001161562.3:c.309_310del, NM_001161562.2:c.309_310del, NM_001161562.1:c.309_310del, NM_001161563.3:c.309_310del, NM_001161563.2:c.309_310del, NM_001161563.1:c.309_310del, NM_001161564.3:c.309_310del, NM_001161564.2:c.309_310del, NM_001161564.1:c.309_310del, NM_001161565.3:c.309_310del, NM_001161565.2:c.309_310del, NM_001161565.1:c.309_310del, NM_001161566.3:c.309_310del, NM_001161566.2:c.309_310del, NM_001161566.1:c.309_310del, NP_055843.1:p.Leu103fs, NP_001155032.1:p.Leu103fs, NP_001155033.1:p.Leu103fs, NP_001155034.1:p.Leu103fs, NP_001155035.1:p.Leu103fs, NP_001155036.1:p.Leu103fs, NP_001155037.1:p.Leu103fs, NP_001155038.1:p.Leu103fs

Select item 14899428592.

rs1489942859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:171101576 (GRCh38)
3:170819365 (GRCh37)
Canonical SPDI:: NC_000003.12:171101575:G:A
Gene:: TNIK (Varview), LOC105374216 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.171101576G>A, NC_000003.11:g.170819365G>A, NG_054934.1:g.363833C>T, NM_015028.4:c.2464C>T, NM_015028.3:c.2464C>T, NM_015028.2:c.2464C>T, NM_001161560.3:c.2440C>T, NM_001161560.2:c.2440C>T, NM_001161560.1:c.2440C>T, NM_001161561.3:c.2377C>T, NM_001161561.2:c.2377C>T, NM_001161561.1:c.2377C>T, NM_001161562.3:c.2353C>T, NM_001161562.2:c.2353C>T, NM_001161562.1:c.2353C>T, NM_001161563.3:c.2299C>T, NM_001161563.2:c.2299C>T, NM_001161563.1:c.2299C>T, NM_001161564.3:c.2275C>T, NM_001161564.2:c.2275C>T, NM_001161564.1:c.2275C>T, NM_001161565.3:c.2212C>T, NM_001161565.2:c.2212C>T, NM_001161565.1:c.2212C>T, NM_001161566.3:c.2188C>T, NM_001161566.2:c.2188C>T, NM_001161566.1:c.2188C>T, NP_055843.1:p.Pro822Ser, NP_001155032.1:p.Pro814Ser, NP_001155033.1:p.Pro793Ser, NP_001155034.1:p.Pro785Ser, NP_001155035.1:p.Pro767Ser, NP_001155036.1:p.Pro759Ser, NP_001155037.1:p.Pro738Ser, NP_001155038.1:p.Pro730Ser

Select item 14888087873.

rs1488808787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:171157640 (GRCh38)
3:170875429 (GRCh37)
Canonical SPDI:: NC_000003.12:171157639:C:T
Gene:: TNIK (Varview), LOC105374216 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.171157640C>T, NC_000003.11:g.170875429C>T, NG_054934.1:g.307769G>A, NM_015028.4:c.1041G>A, NM_015028.3:c.1041G>A, NM_015028.2:c.1041G>A, NM_001161560.3:c.1041G>A, NM_001161560.2:c.1041G>A, NM_001161560.1:c.1041G>A, NM_001161561.3:c.1041G>A, NM_001161561.2:c.1041G>A, NM_001161561.1:c.1041G>A, NM_001161562.3:c.1041G>A, NM_001161562.2:c.1041G>A, NM_001161562.1:c.1041G>A, NM_001161563.3:c.1041G>A, NM_001161563.2:c.1041G>A, NM_001161563.1:c.1041G>A, NM_001161564.3:c.1041G>A, NM_001161564.2:c.1041G>A, NM_001161564.1:c.1041G>A, NM_001161565.3:c.1041G>A, NM_001161565.2:c.1041G>A, NM_001161565.1:c.1041G>A, NM_001161566.3:c.1041G>A, NM_001161566.2:c.1041G>A, NM_001161566.1:c.1041G>A, NG_077352.1:g.321C>T

Select item 14881466274.

rs1488146627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:171110728 (GRCh38)
3:170828517 (GRCh37)
Canonical SPDI:: NC_000003.12:171110727:C:G,NC_000003.12:171110727:C:T
Gene:: TNIK (Varview), LOC105374216 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.171110728C>G, NC_000003.12:g.171110728C>T, NC_000003.11:g.170828517C>G, NC_000003.11:g.170828517C>T, NG_054934.1:g.354681G>C, NG_054934.1:g.354681G>A, NM_015028.4:c.2270G>C, NM_015028.4:c.2270G>A, NM_015028.3:c.2270G>C, NM_015028.3:c.2270G>A, NM_015028.2:c.2270G>C, NM_015028.2:c.2270G>A, NM_001161560.3:c.2270G>C, NM_001161560.3:c.2270G>A, NM_001161560.2:c.2270G>C, NM_001161560.2:c.2270G>A, NM_001161560.1:c.2270G>C, NM_001161560.1:c.2270G>A, NM_001161561.3:c.2183G>C, NM_001161561.3:c.2183G>A, NM_001161561.2:c.2183G>C, NM_001161561.2:c.2183G>A, NM_001161561.1:c.2183G>C, NM_001161561.1:c.2183G>A, NM_001161562.3:c.2183G>C, NM_001161562.3:c.2183G>A, NM_001161562.2:c.2183G>C, NM_001161562.2:c.2183G>A, NM_001161562.1:c.2183G>C, NM_001161562.1:c.2183G>A, NM_001161563.3:c.2105G>C, NM_001161563.3:c.2105G>A, NM_001161563.2:c.2105G>C, NM_001161563.2:c.2105G>A, NM_001161563.1:c.2105G>C, NM_001161563.1:c.2105G>A, NM_001161564.3:c.2105G>C, NM_001161564.3:c.2105G>A, NM_001161564.2:c.2105G>C, NM_001161564.2:c.2105G>A, NM_001161564.1:c.2105G>C, NM_001161564.1:c.2105G>A, NM_001161565.3:c.2018G>C, NM_001161565.3:c.2018G>A, NM_001161565.2:c.2018G>C, NM_001161565.2:c.2018G>A, NM_001161565.1:c.2018G>C, NM_001161565.1:c.2018G>A, NM_001161566.3:c.2018G>C, NM_001161566.3:c.2018G>A, NM_001161566.2:c.2018G>C, NM_001161566.2:c.2018G>A, NM_001161566.1:c.2018G>C, NM_001161566.1:c.2018G>A, NP_055843.1:p.Arg757Pro, NP_055843.1:p.Arg757His, NP_001155032.1:p.Arg757Pro, NP_001155032.1:p.Arg757His, NP_001155033.1:p.Arg728Pro, NP_001155033.1:p.Arg728His, NP_001155034.1:p.Arg728Pro, NP_001155034.1:p.Arg728His, NP_001155035.1:p.Arg702Pro, NP_001155035.1:p.Arg702His, NP_001155036.1:p.Arg702Pro, NP_001155036.1:p.Arg702His, NP_001155037.1:p.Arg673Pro, NP_001155037.1:p.Arg673His, NP_001155038.1:p.Arg673Pro, NP_001155038.1:p.Arg673His

Select item 14869877715.

rs1486987771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:171101505 (GRCh38)
3:170819294 (GRCh37)
Canonical SPDI:: NC_000003.12:171101504:A:G
Gene:: TNIK (Varview), LOC105374216 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_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_000003.12:g.171101505A>G, NC_000003.11:g.170819294A>G, NG_054934.1:g.363904T>C, NM_015028.4:c.2535T>C, NM_015028.3:c.2535T>C, NM_015028.2:c.2535T>C, NM_001161560.3:c.2511T>C, NM_001161560.2:c.2511T>C, NM_001161560.1:c.2511T>C, NM_001161561.3:c.2448T>C, NM_001161561.2:c.2448T>C, NM_001161561.1:c.2448T>C, NM_001161562.3:c.2424T>C, NM_001161562.2:c.2424T>C, NM_001161562.1:c.2424T>C, NM_001161563.3:c.2370T>C, NM_001161563.2:c.2370T>C, NM_001161563.1:c.2370T>C, NM_001161564.3:c.2346T>C, NM_001161564.2:c.2346T>C, NM_001161564.1:c.2346T>C, NM_001161565.3:c.2283T>C, NM_001161565.2:c.2283T>C, NM_001161565.1:c.2283T>C, NM_001161566.3:c.2259T>C, NM_001161566.2:c.2259T>C, NM_001161566.1:c.2259T>C

Select item 14861588486.

rs1486158848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:171125942 (GRCh38)
3:170843731 (GRCh37)
Canonical SPDI:: NC_000003.12:171125941:C:A
Gene:: TNIK (Varview), LOC105374216 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.171125942C>A, NC_000003.11:g.170843731C>A, NG_054934.1:g.339467G>T, NM_015028.4:c.1983G>T, NM_015028.3:c.1983G>T, NM_015028.2:c.1983G>T, NM_001161560.3:c.1983G>T, NM_001161560.2:c.1983G>T, NM_001161560.1:c.1983G>T, NM_001161561.3:c.1896G>T, NM_001161561.2:c.1896G>T, NM_001161561.1:c.1896G>T, NM_001161562.3:c.1896G>T, NM_001161562.2:c.1896G>T, NM_001161562.1:c.1896G>T, NM_001161563.3:c.1818G>T, NM_001161563.2:c.1818G>T, NM_001161563.1:c.1818G>T, NM_001161564.3:c.1818G>T, NM_001161564.2:c.1818G>T, NM_001161564.1:c.1818G>T, NM_001161565.3:c.1731G>T, NM_001161565.2:c.1731G>T, NM_001161565.1:c.1731G>T, NM_001161566.3:c.1731G>T, NM_001161566.2:c.1731G>T, NM_001161566.1:c.1731G>T, NP_055843.1:p.Trp661Cys, NP_001155032.1:p.Trp661Cys, NP_001155033.1:p.Trp632Cys, NP_001155034.1:p.Trp632Cys, NP_001155035.1:p.Trp606Cys, NP_001155036.1:p.Trp606Cys, NP_001155037.1:p.Trp577Cys, NP_001155038.1:p.Trp577Cys

Select item 14859283727.

rs1485928372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:171066630 (GRCh38)
3:170784419 (GRCh37)
Canonical SPDI:: NC_000003.12:171066629:C:T
Gene:: TNIK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.171066630C>T, NC_000003.11:g.170784419C>T, NG_054934.1:g.398779G>A, NM_015028.4:c.3805G>A, NM_015028.3:c.3805G>A, NM_015028.2:c.3805G>A, NM_001161560.3:c.3781G>A, NM_001161560.2:c.3781G>A, NM_001161560.1:c.3781G>A, NM_001161561.3:c.3718G>A, NM_001161561.2:c.3718G>A, NM_001161561.1:c.3718G>A, NM_001161562.3:c.3694G>A, NM_001161562.2:c.3694G>A, NM_001161562.1:c.3694G>A, NM_001161563.3:c.3640G>A, NM_001161563.2:c.3640G>A, NM_001161563.1:c.3640G>A, NM_001161564.3:c.3616G>A, NM_001161564.2:c.3616G>A, NM_001161564.1:c.3616G>A, NM_001161565.3:c.3553G>A, NM_001161565.2:c.3553G>A, NM_001161565.1:c.3553G>A, NM_001161566.3:c.3529G>A, NM_001161566.2:c.3529G>A, NM_001161566.1:c.3529G>A, NP_055843.1:p.Gly1269Ser, NP_001155032.1:p.Gly1261Ser, NP_001155033.1:p.Gly1240Ser, NP_001155034.1:p.Gly1232Ser, NP_001155035.1:p.Gly1214Ser, NP_001155036.1:p.Gly1206Ser, NP_001155037.1:p.Gly1185Ser, NP_001155038.1:p.Gly1177Ser

Select item 14846537118.

rs1484653711 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:171157526 (GRCh38)
3:170875315 (GRCh37)
Canonical SPDI:: NC_000003.12:171157525:C:A
Gene:: TNIK (Varview), LOC105374216 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.171157526C>A, NC_000003.11:g.170875315C>A, NG_054934.1:g.307883G>T, NM_015028.4:c.1155G>T, NM_015028.3:c.1155G>T, NM_015028.2:c.1155G>T, NM_001161560.3:c.1155G>T, NM_001161560.2:c.1155G>T, NM_001161560.1:c.1155G>T, NM_001161561.3:c.1155G>T, NM_001161561.2:c.1155G>T, NM_001161561.1:c.1155G>T, NM_001161562.3:c.1155G>T, NM_001161562.2:c.1155G>T, NM_001161562.1:c.1155G>T, NM_001161563.3:c.1155G>T, NM_001161563.2:c.1155G>T, NM_001161563.1:c.1155G>T, NM_001161564.3:c.1155G>T, NM_001161564.2:c.1155G>T, NM_001161564.1:c.1155G>T, NM_001161565.3:c.1155G>T, NM_001161565.2:c.1155G>T, NM_001161565.1:c.1155G>T, NM_001161566.3:c.1155G>T, NM_001161566.2:c.1155G>T, NM_001161566.1:c.1155G>T, NG_077352.1:g.207C>A

Select item 14843788889.

rs1484378888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:171068946 (GRCh38)
3:170786735 (GRCh37)
Canonical SPDI:: NC_000003.12:171068945:C:T
Gene:: TNIK (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000003.12:g.171068946C>T, NC_000003.11:g.170786735C>T, NG_054934.1:g.396463G>A, NM_015028.4:c.3601G>A, NM_015028.3:c.3601G>A, NM_015028.2:c.3601G>A, NM_001161560.3:c.3577G>A, NM_001161560.2:c.3577G>A, NM_001161560.1:c.3577G>A, NM_001161561.3:c.3514G>A, NM_001161561.2:c.3514G>A, NM_001161561.1:c.3514G>A, NM_001161562.3:c.3490G>A, NM_001161562.2:c.3490G>A, NM_001161562.1:c.3490G>A, NM_001161563.3:c.3436G>A, NM_001161563.2:c.3436G>A, NM_001161563.1:c.3436G>A, NM_001161564.3:c.3412G>A, NM_001161564.2:c.3412G>A, NM_001161564.1:c.3412G>A, NM_001161565.3:c.3349G>A, NM_001161565.2:c.3349G>A, NM_001161565.1:c.3349G>A, NM_001161566.3:c.3325G>A, NM_001161566.2:c.3325G>A, NM_001161566.1:c.3325G>A, NP_055843.1:p.Glu1201Lys, NP_001155032.1:p.Glu1193Lys, NP_001155033.1:p.Glu1172Lys, NP_001155034.1:p.Glu1164Lys, NP_001155035.1:p.Glu1146Lys, NP_001155036.1:p.Glu1138Lys, NP_001155037.1:p.Glu1117Lys, NP_001155038.1:p.Glu1109Lys

Select item 148232109510.

rs1482321095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:171190724 (GRCh38)
3:170908513 (GRCh37)
Canonical SPDI:: NC_000003.12:171190723:G:A,NC_000003.12:171190723:G:T
Gene:: TNIK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,genic_downstream_transcript_variant
HGVS:: NC_000003.12:g.171190724G>A, NC_000003.12:g.171190724G>T, NC_000003.11:g.170908513G>A, NC_000003.11:g.170908513G>T, NG_054934.1:g.274685C>T, NG_054934.1:g.274685C>A, NM_015028.4:c.481C>T, NM_015028.4:c.481C>A, NM_015028.3:c.481C>T, NM_015028.3:c.481C>A, NM_015028.2:c.481C>T, NM_015028.2:c.481C>A, NM_001161560.3:c.481C>T, NM_001161560.3:c.481C>A, NM_001161560.2:c.481C>T, NM_001161560.2:c.481C>A, NM_001161560.1:c.481C>T, NM_001161560.1:c.481C>A, NM_001161561.3:c.481C>T, NM_001161561.3:c.481C>A, NM_001161561.2:c.481C>T, NM_001161561.2:c.481C>A, NM_001161561.1:c.481C>T, NM_001161561.1:c.481C>A, NM_001161562.3:c.481C>T, NM_001161562.3:c.481C>A, NM_001161562.2:c.481C>T, NM_001161562.2:c.481C>A, NM_001161562.1:c.481C>T, NM_001161562.1:c.481C>A, NM_001161563.3:c.481C>T, NM_001161563.3:c.481C>A, NM_001161563.2:c.481C>T, NM_001161563.2:c.481C>A, NM_001161563.1:c.481C>T, NM_001161563.1:c.481C>A, NM_001161564.3:c.481C>T, NM_001161564.3:c.481C>A, NM_001161564.2:c.481C>T, NM_001161564.2:c.481C>A, NM_001161564.1:c.481C>T, NM_001161564.1:c.481C>A, NM_001161565.3:c.481C>T, NM_001161565.3:c.481C>A, NM_001161565.2:c.481C>T, NM_001161565.2:c.481C>A, NM_001161565.1:c.481C>T, NM_001161565.1:c.481C>A, NM_001161566.3:c.481C>T, NM_001161566.3:c.481C>A, NM_001161566.2:c.481C>T, NM_001161566.2:c.481C>A, NM_001161566.1:c.481C>T, NM_001161566.1:c.481C>A, NP_055843.1:p.Leu161Met, NP_001155032.1:p.Leu161Met, NP_001155033.1:p.Leu161Met, NP_001155034.1:p.Leu161Met, NP_001155035.1:p.Leu161Met, NP_001155036.1:p.Leu161Met, NP_001155037.1:p.Leu161Met, NP_001155038.1:p.Leu161Met

Select item 148203450111.

rs1482034501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:171110850 (GRCh38)
3:170828639 (GRCh37)
Canonical SPDI:: NC_000003.12:171110849:G:A
Gene:: TNIK (Varview), LOC105374216 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.171110850G>A, NC_000003.11:g.170828639G>A, NG_054934.1:g.354559C>T, NM_015028.4:c.2148C>T, NM_015028.3:c.2148C>T, NM_015028.2:c.2148C>T, NM_001161560.3:c.2148C>T, NM_001161560.2:c.2148C>T, NM_001161560.1:c.2148C>T, NM_001161561.3:c.2061C>T, NM_001161561.2:c.2061C>T, NM_001161561.1:c.2061C>T, NM_001161562.3:c.2061C>T, NM_001161562.2:c.2061C>T, NM_001161562.1:c.2061C>T, NM_001161563.3:c.1983C>T, NM_001161563.2:c.1983C>T, NM_001161563.1:c.1983C>T, NM_001161564.3:c.1983C>T, NM_001161564.2:c.1983C>T, NM_001161564.1:c.1983C>T, NM_001161565.3:c.1896C>T, NM_001161565.2:c.1896C>T, NM_001161565.1:c.1896C>T, NM_001161566.3:c.1896C>T, NM_001161566.2:c.1896C>T, NM_001161566.1:c.1896C>T

Select item 148186171812.

rs1481861718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:171126118 (GRCh38)
3:170843907 (GRCh37)
Canonical SPDI:: NC_000003.12:171126117:G:A
Gene:: TNIK (Varview), LOC105374216 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.171126118G>A, NC_000003.11:g.170843907G>A, NG_054934.1:g.339291C>T, NM_015028.4:c.1807C>T, NM_015028.3:c.1807C>T, NM_015028.2:c.1807C>T, NM_001161560.3:c.1807C>T, NM_001161560.2:c.1807C>T, NM_001161560.1:c.1807C>T, NM_001161561.3:c.1720C>T, NM_001161561.2:c.1720C>T, NM_001161561.1:c.1720C>T, NM_001161562.3:c.1720C>T, NM_001161562.2:c.1720C>T, NM_001161562.1:c.1720C>T, NM_001161563.3:c.1642C>T, NM_001161563.2:c.1642C>T, NM_001161563.1:c.1642C>T, NM_001161564.3:c.1642C>T, NM_001161564.2:c.1642C>T, NM_001161564.1:c.1642C>T, NM_001161565.3:c.1555C>T, NM_001161565.2:c.1555C>T, NM_001161565.1:c.1555C>T, NM_001161566.3:c.1555C>T, NM_001161566.2:c.1555C>T, NM_001161566.1:c.1555C>T, NP_055843.1:p.Pro603Ser, NP_001155032.1:p.Pro603Ser, NP_001155033.1:p.Pro574Ser, NP_001155034.1:p.Pro574Ser, NP_001155035.1:p.Pro548Ser, NP_001155036.1:p.Pro548Ser, NP_001155037.1:p.Pro519Ser, NP_001155038.1:p.Pro519Ser

Select item 148092009213.

rs1480920092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:171079587 (GRCh38)
3:170797376 (GRCh37)
Canonical SPDI:: NC_000003.12:171079586:G:A
Gene:: TNIK (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.171079587G>A, NC_000003.11:g.170797376G>A, NG_054934.1:g.385822C>T, NM_015028.4:c.3379C>T, NM_015028.3:c.3379C>T, NM_015028.2:c.3379C>T, NM_001161560.3:c.3355C>T, NM_001161560.2:c.3355C>T, NM_001161560.1:c.3355C>T, NM_001161561.3:c.3292C>T, NM_001161561.2:c.3292C>T, NM_001161561.1:c.3292C>T, NM_001161562.3:c.3268C>T, NM_001161562.2:c.3268C>T, NM_001161562.1:c.3268C>T, NM_001161563.3:c.3214C>T, NM_001161563.2:c.3214C>T, NM_001161563.1:c.3214C>T, NM_001161564.3:c.3190C>T, NM_001161564.2:c.3190C>T, NM_001161564.1:c.3190C>T, NM_001161565.3:c.3127C>T, NM_001161565.2:c.3127C>T, NM_001161565.1:c.3127C>T, NM_001161566.3:c.3103C>T, NM_001161566.2:c.3103C>T, NM_001161566.1:c.3103C>T, NP_055843.1:p.Pro1127Ser, NP_001155032.1:p.Pro1119Ser, NP_001155033.1:p.Pro1098Ser, NP_001155034.1:p.Pro1090Ser, NP_001155035.1:p.Pro1072Ser, NP_001155036.1:p.Pro1064Ser, NP_001155037.1:p.Pro1043Ser, NP_001155038.1:p.Pro1035Ser

Select item 147885406114.

rs1478854061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:171123638 (GRCh38)
3:170841427 (GRCh37)
Canonical SPDI:: NC_000003.12:171123637:C:T
Gene:: TNIK (Varview), LOC105374216 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000003.12:g.171123638C>T, NC_000003.11:g.170841427C>T, NG_054934.1:g.341771G>A, NM_015028.4:c.2078G>A, NM_015028.3:c.2078G>A, NM_015028.2:c.2078G>A, NM_001161560.3:c.2078G>A, NM_001161560.2:c.2078G>A, NM_001161560.1:c.2078G>A, NM_001161561.3:c.1991G>A, NM_001161561.2:c.1991G>A, NM_001161561.1:c.1991G>A, NM_001161562.3:c.1991G>A, NM_001161562.2:c.1991G>A, NM_001161562.1:c.1991G>A, NM_001161563.3:c.1913G>A, NM_001161563.2:c.1913G>A, NM_001161563.1:c.1913G>A, NM_001161564.3:c.1913G>A, NM_001161564.2:c.1913G>A, NM_001161564.1:c.1913G>A, NM_001161565.3:c.1826G>A, NM_001161565.2:c.1826G>A, NM_001161565.1:c.1826G>A, NM_001161566.3:c.1826G>A, NM_001161566.2:c.1826G>A, NM_001161566.1:c.1826G>A, NP_055843.1:p.Ser693Asn, NP_001155032.1:p.Ser693Asn, NP_001155033.1:p.Ser664Asn, NP_001155034.1:p.Ser664Asn, NP_001155035.1:p.Ser638Asn, NP_001155036.1:p.Ser638Asn, NP_001155037.1:p.Ser609Asn, NP_001155038.1:p.Ser609Asn

Select item 147834684115.

rs1478346841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:171079573 (GRCh38)
3:170797362 (GRCh37)
Canonical SPDI:: NC_000003.12:171079572:C:G,NC_000003.12:171079572:C:T
Gene:: TNIK (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.171079573C>G, NC_000003.12:g.171079573C>T, NC_000003.11:g.170797362C>G, NC_000003.11:g.170797362C>T, NG_054934.1:g.385836G>C, NG_054934.1:g.385836G>A, NM_015028.4:c.3393G>C, NM_015028.4:c.3393G>A, NM_015028.3:c.3393G>C, NM_015028.3:c.3393G>A, NM_015028.2:c.3393G>C, NM_015028.2:c.3393G>A, NM_001161560.3:c.3369G>C, NM_001161560.3:c.3369G>A, NM_001161560.2:c.3369G>C, NM_001161560.2:c.3369G>A, NM_001161560.1:c.3369G>C, NM_001161560.1:c.3369G>A, NM_001161561.3:c.3306G>C, NM_001161561.3:c.3306G>A, NM_001161561.2:c.3306G>C, NM_001161561.2:c.3306G>A, NM_001161561.1:c.3306G>C, NM_001161561.1:c.3306G>A, NM_001161562.3:c.3282G>C, NM_001161562.3:c.3282G>A, NM_001161562.2:c.3282G>C, NM_001161562.2:c.3282G>A, NM_001161562.1:c.3282G>C, NM_001161562.1:c.3282G>A, NM_001161563.3:c.3228G>C, NM_001161563.3:c.3228G>A, NM_001161563.2:c.3228G>C, NM_001161563.2:c.3228G>A, NM_001161563.1:c.3228G>C, NM_001161563.1:c.3228G>A, NM_001161564.3:c.3204G>C, NM_001161564.3:c.3204G>A, NM_001161564.2:c.3204G>C, NM_001161564.2:c.3204G>A, NM_001161564.1:c.3204G>C, NM_001161564.1:c.3204G>A, NM_001161565.3:c.3141G>C, NM_001161565.3:c.3141G>A, NM_001161565.2:c.3141G>C, NM_001161565.2:c.3141G>A, NM_001161565.1:c.3141G>C, NM_001161565.1:c.3141G>A, NM_001161566.3:c.3117G>C, NM_001161566.3:c.3117G>A, NM_001161566.2:c.3117G>C, NM_001161566.2:c.3117G>A, NM_001161566.1:c.3117G>C, NM_001161566.1:c.3117G>A, NP_055843.1:p.Lys1131Asn, NP_001155032.1:p.Lys1123Asn, NP_001155033.1:p.Lys1102Asn, NP_001155034.1:p.Lys1094Asn, NP_001155035.1:p.Lys1076Asn, NP_001155036.1:p.Lys1068Asn, NP_001155037.1:p.Lys1047Asn, NP_001155038.1:p.Lys1039Asn

Select item 147714449816.

rs1477144498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:171071262 (GRCh38)
3:170789051 (GRCh37)
Canonical SPDI:: NC_000003.12:171071261:A:G
Gene:: TNIK (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.171071262A>G, NC_000003.11:g.170789051A>G, NG_054934.1:g.394147T>C, NM_015028.4:c.3510T>C, NM_015028.3:c.3510T>C, NM_015028.2:c.3510T>C, NM_001161560.3:c.3486T>C, NM_001161560.2:c.3486T>C, NM_001161560.1:c.3486T>C, NM_001161561.3:c.3423T>C, NM_001161561.2:c.3423T>C, NM_001161561.1:c.3423T>C, NM_001161562.3:c.3399T>C, NM_001161562.2:c.3399T>C, NM_001161562.1:c.3399T>C, NM_001161563.3:c.3345T>C, NM_001161563.2:c.3345T>C, NM_001161563.1:c.3345T>C, NM_001161564.3:c.3321T>C, NM_001161564.2:c.3321T>C, NM_001161564.1:c.3321T>C, NM_001161565.3:c.3258T>C, NM_001161565.2:c.3258T>C, NM_001161565.1:c.3258T>C, NM_001161566.3:c.3234T>C, NM_001161566.2:c.3234T>C, NM_001161566.1:c.3234T>C

Select item 147615504017.

rs1476155040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:171123633 (GRCh38)
3:170841422 (GRCh37)
Canonical SPDI:: NC_000003.12:171123632:G:A
Gene:: TNIK (Varview), LOC105374216 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.171123633G>A, NC_000003.11:g.170841422G>A, NG_054934.1:g.341776C>T, NM_015028.4:c.2083C>T, NM_015028.3:c.2083C>T, NM_015028.2:c.2083C>T, NM_001161560.3:c.2083C>T, NM_001161560.2:c.2083C>T, NM_001161560.1:c.2083C>T, NM_001161561.3:c.1996C>T, NM_001161561.2:c.1996C>T, NM_001161561.1:c.1996C>T, NM_001161562.3:c.1996C>T, NM_001161562.2:c.1996C>T, NM_001161562.1:c.1996C>T, NM_001161563.3:c.1918C>T, NM_001161563.2:c.1918C>T, NM_001161563.1:c.1918C>T, NM_001161564.3:c.1918C>T, NM_001161564.2:c.1918C>T, NM_001161564.1:c.1918C>T, NM_001161565.3:c.1831C>T, NM_001161565.2:c.1831C>T, NM_001161565.1:c.1831C>T, NM_001161566.3:c.1831C>T, NM_001161566.2:c.1831C>T, NM_001161566.1:c.1831C>T

Select item 147598244018.

rs1475982440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:171140417 (GRCh38)
3:170858206 (GRCh37)
Canonical SPDI:: NC_000003.12:171140416:C:A
Gene:: TNIK (Varview), LOC105374216 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.171140417C>A, NC_000003.11:g.170858206C>A, NG_054934.1:g.324992G>T, NM_015028.4:c.1314G>T, NM_015028.3:c.1314G>T, NM_015028.2:c.1314G>T, NM_001161560.3:c.1314G>T, NM_001161560.2:c.1314G>T, NM_001161560.1:c.1314G>T, NM_001161561.3:c.1314G>T, NM_001161561.2:c.1314G>T, NM_001161561.1:c.1314G>T, NM_001161562.3:c.1314G>T, NM_001161562.2:c.1314G>T, NM_001161562.1:c.1314G>T, NM_001161563.3:c.1314G>T, NM_001161563.2:c.1314G>T, NM_001161563.1:c.1314G>T, NM_001161564.3:c.1314G>T, NM_001161564.2:c.1314G>T, NM_001161564.1:c.1314G>T, NM_001161565.3:c.1314G>T, NM_001161565.2:c.1314G>T, NM_001161565.1:c.1314G>T, NM_001161566.3:c.1314G>T, NM_001161566.2:c.1314G>T, NM_001161566.1:c.1314G>T, NP_055843.1:p.Arg438Ser, NP_001155032.1:p.Arg438Ser, NP_001155033.1:p.Arg438Ser, NP_001155034.1:p.Arg438Ser, NP_001155035.1:p.Arg438Ser, NP_001155036.1:p.Arg438Ser, NP_001155037.1:p.Arg438Ser, NP_001155038.1:p.Arg438Ser

Select item 147582922619.

rs1475829226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:171157553 (GRCh38)
3:170875342 (GRCh37)
Canonical SPDI:: NC_000003.12:171157552:C:T
Gene:: TNIK (Varview), LOC105374216 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.171157553C>T, NC_000003.11:g.170875342C>T, NG_054934.1:g.307856G>A, NM_015028.4:c.1128G>A, NM_015028.3:c.1128G>A, NM_015028.2:c.1128G>A, NM_001161560.3:c.1128G>A, NM_001161560.2:c.1128G>A, NM_001161560.1:c.1128G>A, NM_001161561.3:c.1128G>A, NM_001161561.2:c.1128G>A, NM_001161561.1:c.1128G>A, NM_001161562.3:c.1128G>A, NM_001161562.2:c.1128G>A, NM_001161562.1:c.1128G>A, NM_001161563.3:c.1128G>A, NM_001161563.2:c.1128G>A, NM_001161563.1:c.1128G>A, NM_001161564.3:c.1128G>A, NM_001161564.2:c.1128G>A, NM_001161564.1:c.1128G>A, NM_001161565.3:c.1128G>A, NM_001161565.2:c.1128G>A, NM_001161565.1:c.1128G>A, NM_001161566.3:c.1128G>A, NM_001161566.2:c.1128G>A, NM_001161566.1:c.1128G>A, NG_077352.1:g.234C>T

Select item 147577280620.

rs1475772806 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:171123643 (GRCh38)
3:170841432 (GRCh37)
Canonical SPDI:: NC_000003.12:171123642:A:G
Gene:: TNIK (Varview), LOC105374216 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.171123643A>G, NC_000003.11:g.170841432A>G, NG_054934.1:g.341766T>C, NM_015028.4:c.2073T>C, NM_015028.3:c.2073T>C, NM_015028.2:c.2073T>C, NM_001161560.3:c.2073T>C, NM_001161560.2:c.2073T>C, NM_001161560.1:c.2073T>C, NM_001161561.3:c.1986T>C, NM_001161561.2:c.1986T>C, NM_001161561.1:c.1986T>C, NM_001161562.3:c.1986T>C, NM_001161562.2:c.1986T>C, NM_001161562.1:c.1986T>C, NM_001161563.3:c.1908T>C, NM_001161563.2:c.1908T>C, NM_001161563.1:c.1908T>C, NM_001161564.3:c.1908T>C, NM_001161564.2:c.1908T>C, NM_001161564.1:c.1908T>C, NM_001161565.3:c.1821T>C, NM_001161565.2:c.1821T>C, NM_001161565.1:c.1821T>C, NM_001161566.3:c.1821T>C, NM_001161566.2:c.1821T>C, NM_001161566.1:c.1821T>C

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