SNP Links for Protein (Select 485836935) - SNP

Links from Protein

Items: 1 to 20 of 359

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Select item 14907748941.

rs1490774894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:43122835 (GRCh38)
8:42977978 (GRCh37)
Canonical SPDI:: NC_000008.11:43122834:A:C,NC_000008.11:43122834:A:G
Gene:: POMK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.43122835A>C, NC_000008.11:g.43122835A>G, NC_000008.10:g.42977978A>C, NC_000008.10:g.42977978A>G, NG_033235.1:g.34330A>C, NG_033235.1:g.34330A>G, NM_032237.5:c.1011A>C, NM_032237.5:c.1011A>G, NM_032237.4:c.1011A>C, NM_032237.4:c.1011A>G, NM_001277971.2:c.1011A>C, NM_001277971.2:c.1011A>G, NM_001277971.1:c.1011A>C, NM_001277971.1:c.1011A>G

Select item 14842075632.

rs1484207563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:43103678 (GRCh38)
8:42958821 (GRCh37)
Canonical SPDI:: NC_000008.11:43103677:G:A
Gene:: POMK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.43103678G>A, NC_000008.10:g.42958821G>A, NG_033235.1:g.15173G>A, NM_032237.5:c.130G>A, NM_032237.4:c.130G>A, NM_001277971.2:c.130G>A, NM_001277971.1:c.130G>A, NP_115613.1:p.Ala44Thr, NP_001264900.1:p.Ala44Thr

Select item 14828233873.

rs1482823387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:43122207 (GRCh38)
8:42977350 (GRCh37)
Canonical SPDI:: NC_000008.11:43122206:C:G,NC_000008.11:43122206:C:T
Gene:: POMK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43122207C>G, NC_000008.11:g.43122207C>T, NC_000008.10:g.42977350C>G, NC_000008.10:g.42977350C>T, NG_033235.1:g.33702C>G, NG_033235.1:g.33702C>T, NM_032237.5:c.383C>G, NM_032237.5:c.383C>T, NM_032237.4:c.383C>G, NM_032237.4:c.383C>T, NM_001277971.2:c.383C>G, NM_001277971.2:c.383C>T, NM_001277971.1:c.383C>G, NM_001277971.1:c.383C>T, NP_115613.1:p.Ser128Cys, NP_115613.1:p.Ser128Phe, NP_001264900.1:p.Ser128Cys, NP_001264900.1:p.Ser128Phe

Select item 14756184904.

rs1475618490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:43122677 (GRCh38)
8:42977820 (GRCh37)
Canonical SPDI:: NC_000008.11:43122676:A:G
Gene:: POMK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.43122677A>G, NC_000008.10:g.42977820A>G, NG_033235.1:g.34172A>G, NM_032237.5:c.853A>G, NM_032237.4:c.853A>G, NM_001277971.2:c.853A>G, NM_001277971.1:c.853A>G, NP_115613.1:p.Ile285Val, NP_001264900.1:p.Ile285Val

Select item 14715964595.

rs1471596459 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:43122844 (GRCh38)
8:42977987 (GRCh37)
Canonical SPDI:: NC_000008.11:43122843:T:G
Gene:: POMK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43122844T>G, NC_000008.10:g.42977987T>G, NG_033235.1:g.34339T>G, NM_032237.5:c.1020T>G, NM_032237.4:c.1020T>G, NM_001277971.2:c.1020T>G, NM_001277971.1:c.1020T>G, NP_115613.1:p.Asp340Glu, NP_001264900.1:p.Asp340Glu

Select item 14703112226.

rs1470311222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:43103675 (GRCh38)
8:42958818 (GRCh37)
Canonical SPDI:: NC_000008.11:43103674:A:G
Gene:: POMK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.43103675A>G, NC_000008.10:g.42958818A>G, NG_033235.1:g.15170A>G, NM_032237.5:c.127A>G, NM_032237.4:c.127A>G, NM_001277971.2:c.127A>G, NM_001277971.1:c.127A>G, NP_115613.1:p.Ile43Val, NP_001264900.1:p.Ile43Val

Select item 14658828407.

rs1465882840 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:43122313 (GRCh38)
8:42977456 (GRCh37)
Canonical SPDI:: NC_000008.11:43122312:A:C,NC_000008.11:43122312:A:G
Gene:: POMK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
C=0.004034/68 (TOMMO)
HGVS:: NC_000008.11:g.43122313A>C, NC_000008.11:g.43122313A>G, NC_000008.10:g.42977456A>C, NC_000008.10:g.42977456A>G, NG_033235.1:g.33808A>C, NG_033235.1:g.33808A>G, NM_032237.5:c.489A>C, NM_032237.5:c.489A>G, NM_032237.4:c.489A>C, NM_032237.4:c.489A>G, NM_001277971.2:c.489A>C, NM_001277971.2:c.489A>G, NM_001277971.1:c.489A>C, NM_001277971.1:c.489A>G

Select item 14645058948.

rs1464505894 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:43122664 (GRCh38)
8:42977807 (GRCh37)
Canonical SPDI:: NC_000008.11:43122663:T:G
Gene:: POMK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43122664T>G, NC_000008.10:g.42977807T>G, NG_033235.1:g.34159T>G, NM_032237.5:c.840T>G, NM_032237.4:c.840T>G, NM_001277971.2:c.840T>G, NM_001277971.1:c.840T>G, NP_115613.1:p.Ile280Met, NP_001264900.1:p.Ile280Met

Select item 14637685249.

rs1463768524 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:43103685 (GRCh38)
8:42958828 (GRCh37)
Canonical SPDI:: NC_000008.11:43103684:G:A,NC_000008.11:43103684:G:C
Gene:: POMK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.43103685G>A, NC_000008.11:g.43103685G>C, NC_000008.10:g.42958828G>A, NC_000008.10:g.42958828G>C, NG_033235.1:g.15180G>A, NG_033235.1:g.15180G>C, NM_032237.5:c.137G>A, NM_032237.5:c.137G>C, NM_032237.4:c.137G>A, NM_032237.4:c.137G>C, NM_001277971.2:c.137G>A, NM_001277971.2:c.137G>C, NM_001277971.1:c.137G>A, NM_001277971.1:c.137G>C, NP_115613.1:p.Arg46Gln, NP_115613.1:p.Arg46Pro, NP_001264900.1:p.Arg46Gln, NP_001264900.1:p.Arg46Pro

Select item 145400690510.

rs1454006905 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:43103786 (GRCh38)
8:42958929 (GRCh37)
Canonical SPDI:: NC_000008.11:43103784:AGA:A
Gene:: POMK (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.43103786_43103787del, NC_000008.10:g.42958929_42958930del, NG_033235.1:g.15281_15282del, NM_032237.5:c.238_239del, NM_032237.4:c.238_239del, NM_001277971.2:c.238_239del, NM_001277971.1:c.238_239del, NP_115613.1:p.Glu80fs, NP_001264900.1:p.Glu80fs

Select item 144278739411.

rs1442787394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:43122514 (GRCh38)
8:42977657 (GRCh37)
Canonical SPDI:: NC_000008.11:43122513:C:T
Gene:: POMK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43122514C>T, NC_000008.10:g.42977657C>T, NG_033235.1:g.34009C>T, NM_032237.5:c.690C>T, NM_032237.4:c.690C>T, NM_001277971.2:c.690C>T, NM_001277971.1:c.690C>T

Select item 144181298312.

rs1441812983 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:43103652 (GRCh38)
8:42958795 (GRCh37)
Canonical SPDI:: NC_000008.11:43103651:A:C,NC_000008.11:43103651:A:G
Gene:: POMK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
C=0.001092/2 (Korea1K)
HGVS:: NC_000008.11:g.43103652A>C, NC_000008.11:g.43103652A>G, NC_000008.10:g.42958795A>C, NC_000008.10:g.42958795A>G, NG_033235.1:g.15147A>C, NG_033235.1:g.15147A>G, NM_032237.5:c.104A>C, NM_032237.5:c.104A>G, NM_032237.4:c.104A>C, NM_032237.4:c.104A>G, NM_001277971.2:c.104A>C, NM_001277971.2:c.104A>G, NM_001277971.1:c.104A>C, NM_001277971.1:c.104A>G, NP_115613.1:p.Tyr35Ser, NP_115613.1:p.Tyr35Cys, NP_001264900.1:p.Tyr35Ser, NP_001264900.1:p.Tyr35Cys

Select item 144106731613.

rs1441067316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:43103766 (GRCh38)
8:42958909 (GRCh37)
Canonical SPDI:: NC_000008.11:43103765:C:T
Gene:: POMK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43103766C>T, NC_000008.10:g.42958909C>T, NG_033235.1:g.15261C>T, NM_032237.5:c.218C>T, NM_032237.4:c.218C>T, NM_001277971.2:c.218C>T, NM_001277971.1:c.218C>T, NP_115613.1:p.Ser73Phe, NP_001264900.1:p.Ser73Phe

Select item 143738842014.

rs1437388420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:43122368 (GRCh38)
8:42977511 (GRCh37)
Canonical SPDI:: NC_000008.11:43122367:G:A,NC_000008.11:43122367:G:T
Gene:: POMK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.43122368G>A, NC_000008.11:g.43122368G>T, NC_000008.10:g.42977511G>A, NC_000008.10:g.42977511G>T, NG_033235.1:g.33863G>A, NG_033235.1:g.33863G>T, NM_032237.5:c.544G>A, NM_032237.5:c.544G>T, NM_032237.4:c.544G>A, NM_032237.4:c.544G>T, NM_001277971.2:c.544G>A, NM_001277971.2:c.544G>T, NM_001277971.1:c.544G>A, NM_001277971.1:c.544G>T, NP_115613.1:p.Ala182Thr, NP_115613.1:p.Ala182Ser, NP_001264900.1:p.Ala182Thr, NP_001264900.1:p.Ala182Ser

Select item 143406346715.

rs1434063467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:43122636 (GRCh38)
8:42977779 (GRCh37)
Canonical SPDI:: NC_000008.11:43122635:A:G
Gene:: POMK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.43122636A>G, NC_000008.10:g.42977779A>G, NG_033235.1:g.34131A>G, NM_032237.5:c.812A>G, NM_032237.4:c.812A>G, NM_001277971.2:c.812A>G, NM_001277971.1:c.812A>G, NP_115613.1:p.Asp271Gly, NP_001264900.1:p.Asp271Gly

Select item 143295192716.

rs1432951927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:43122343 (GRCh38)
8:42977486 (GRCh37)
Canonical SPDI:: NC_000008.11:43122342:C:T
Gene:: POMK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43122343C>T, NC_000008.10:g.42977486C>T, NG_033235.1:g.33838C>T, NM_032237.5:c.519C>T, NM_032237.4:c.519C>T, NM_001277971.2:c.519C>T, NM_001277971.1:c.519C>T

Select item 143189180217.

rs1431891802 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:43122709 (GRCh38)
8:42977852 (GRCh37)
Canonical SPDI:: NC_000008.11:43122708:C:T
Gene:: POMK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43122709C>T, NC_000008.10:g.42977852C>T, NG_033235.1:g.34204C>T, NM_032237.5:c.885C>T, NM_032237.4:c.885C>T, NM_001277971.2:c.885C>T, NM_001277971.1:c.885C>T

Select item 142691229918.

rs1426912299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:43122868 (GRCh38)
8:42978011 (GRCh37)
Canonical SPDI:: NC_000008.11:43122867:G:A,NC_000008.11:43122867:G:T
Gene:: POMK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43122868G>A, NC_000008.11:g.43122868G>T, NC_000008.10:g.42978011G>A, NC_000008.10:g.42978011G>T, NG_033235.1:g.34363G>A, NG_033235.1:g.34363G>T, NM_032237.5:c.1044G>A, NM_032237.5:c.1044G>T, NM_032237.4:c.1044G>A, NM_032237.4:c.1044G>T, NM_001277971.2:c.1044G>A, NM_001277971.2:c.1044G>T, NM_001277971.1:c.1044G>A, NM_001277971.1:c.1044G>T, NP_115613.1:p.Glu348Asp, NP_001264900.1:p.Glu348Asp

Select item 142642720119.

rs1426427201 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:43122378 (GRCh38)
8:42977521 (GRCh37)
Canonical SPDI:: NC_000008.11:43122377:A:C,NC_000008.11:43122377:A:G
Gene:: POMK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.43122378A>C, NC_000008.11:g.43122378A>G, NC_000008.10:g.42977521A>C, NC_000008.10:g.42977521A>G, NG_033235.1:g.33873A>C, NG_033235.1:g.33873A>G, NM_032237.5:c.554A>C, NM_032237.5:c.554A>G, NM_032237.4:c.554A>C, NM_032237.4:c.554A>G, NM_001277971.2:c.554A>C, NM_001277971.2:c.554A>G, NM_001277971.1:c.554A>C, NM_001277971.1:c.554A>G, NP_115613.1:p.Tyr185Ser, NP_115613.1:p.Tyr185Cys, NP_001264900.1:p.Tyr185Ser, NP_001264900.1:p.Tyr185Cys

Select item 142213339820.

rs1422133398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:43122484 (GRCh38)
8:42977627 (GRCh37)
Canonical SPDI:: NC_000008.11:43122483:C:T
Gene:: POMK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43122484C>T, NC_000008.10:g.42977627C>T, NG_033235.1:g.33979C>T, NM_032237.5:c.660C>T, NM_032237.4:c.660C>T, NM_001277971.2:c.660C>T, NM_001277971.1:c.660C>T

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