SNP Links for Protein (Select 42558258) - SNP

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Links from Protein

Items: 1 to 20 of 572

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Select item 14907380511.

rs1490738051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:39431878 (GRCh38)
14:39901082 (GRCh37)
Canonical SPDI:: NC_000014.9:39431877:G:A
Gene:: FBXO33 (Varview), LOC105370461 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.39431878G>A, NC_000014.8:g.39901082G>A, NG_027725.1:g.5623C>T, NM_203301.3:c.285C>T, NM_203301.4:c.285C>T

Select item 14899166242.

rs1489916624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:39431634 (GRCh38)
14:39900838 (GRCh37)
Canonical SPDI:: NC_000014.9:39431633:G:A
Gene:: FBXO33 (Varview), LOC105370461 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.39431634G>A, NC_000014.8:g.39900838G>A, NG_027725.1:g.5867C>T, NM_203301.3:c.529C>T, NM_203301.4:c.529C>T, NP_976046.1:p.Arg177Cys

Select item 14892957513.

rs1489295751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:39431970 (GRCh38)
14:39901174 (GRCh37)
Canonical SPDI:: NC_000014.9:39431969:C:A,NC_000014.9:39431969:C:T
Gene:: FBXO33 (Varview), LOC105370461 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.39431970C>A, NC_000014.9:g.39431970C>T, NC_000014.8:g.39901174C>A, NC_000014.8:g.39901174C>T, NG_027725.1:g.5531G>T, NG_027725.1:g.5531G>A, NM_203301.3:c.193G>T, NM_203301.3:c.193G>A, NM_203301.4:c.193G>T, NM_203301.4:c.193G>A, NP_976046.1:p.Ala65Ser, NP_976046.1:p.Ala65Thr

Select item 14887817294.

rs1488781729 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:39402488 (GRCh38)
14:39871692 (GRCh37)
Canonical SPDI:: NC_000014.9:39402487:A:G
Gene:: FBXO33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.39402488A>G, NC_000014.8:g.39871692A>G, NG_027725.1:g.35013T>C, NM_203301.3:c.623T>C, NM_203301.4:c.623T>C, NP_976046.1:p.Phe208Ser

Select item 14887536855.

rs1488753685 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:39401450 (GRCh38)
14:39870654 (GRCh37)
Canonical SPDI:: NC_000014.9:39401449:T:C
Gene:: FBXO33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.39401450T>C, NC_000014.8:g.39870654T>C, NG_027725.1:g.36051A>G, NM_203301.3:c.1122A>G, NM_203301.4:c.1122A>G, NP_976046.1:p.Ile374Met

Select item 14881362186.

rs1488136218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:39401546 (GRCh38)
14:39870750 (GRCh37)
Canonical SPDI:: NC_000014.9:39401545:G:A,NC_000014.9:39401545:G:C
Gene:: FBXO33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.39401546G>A, NC_000014.9:g.39401546G>C, NC_000014.8:g.39870750G>A, NC_000014.8:g.39870750G>C, NG_027725.1:g.35955C>T, NG_027725.1:g.35955C>G, NM_203301.3:c.1026C>T, NM_203301.3:c.1026C>G, NM_203301.4:c.1026C>T, NM_203301.4:c.1026C>G, NP_976046.1:p.His342Gln

Select item 14869955757.

rs1486995575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:39431690 (GRCh38)
14:39900894 (GRCh37)
Canonical SPDI:: NC_000014.9:39431689:C:A,NC_000014.9:39431689:C:T
Gene:: FBXO33 (Varview), LOC105370461 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.39431690C>A, NC_000014.9:g.39431690C>T, NC_000014.8:g.39900894C>A, NC_000014.8:g.39900894C>T, NG_027725.1:g.5811G>T, NG_027725.1:g.5811G>A, NM_203301.3:c.473G>T, NM_203301.3:c.473G>A, NM_203301.4:c.473G>T, NM_203301.4:c.473G>A, NP_976046.1:p.Gly158Val, NP_976046.1:p.Gly158Asp

Select item 14867397048.

rs1486739704 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:39399541 (GRCh38)
14:39868745 (GRCh37)
Canonical SPDI:: NC_000014.9:39399540:A:G
Gene:: FBXO33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000014.9:g.39399541A>G, NC_000014.8:g.39868745A>G, NG_027725.1:g.37960T>C, NM_203301.3:c.1643T>C, NM_203301.4:c.1643T>C, NP_976046.1:p.Met548Thr

Select item 14861366039.

rs1486136603 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCCGCCGGCTGCCGGCTCCC>- [Show Flanks]
Chromosome:: 14:39431996 (GRCh38)
14:39901200 (GRCh37)
Canonical SPDI:: NC_000014.9:39431992:CCCCGCCGCCGGCTGCCGGCTCCC:CCC
Gene:: FBXO33 (Varview), LOC105370461 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,inframe_deletion,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.39431996_39432016del, NC_000014.8:g.39901200_39901220del, NG_027725.1:g.5488_5508del, NM_203301.3:c.150_170del, NM_203301.4:c.150_170del, NP_976046.1:p.Ala51_Gly57del

Select item 148239441910.

rs1482394419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:39432044 (GRCh38)
14:39901248 (GRCh37)
Canonical SPDI:: NC_000014.9:39432043:C:T
Gene:: FBXO33 (Varview), LOC105370461 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.39432044C>T, NC_000014.8:g.39901248C>T, NG_027725.1:g.5457G>A, NM_203301.3:c.119G>A, NM_203301.4:c.119G>A, NP_976046.1:p.Gly40Glu

Select item 148176907311.

rs1481769073 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:39431988 (GRCh38)
14:39901192 (GRCh37)
Canonical SPDI:: NC_000014.9:39431987:T:A
Gene:: FBXO33 (Varview), LOC105370461 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.39431988T>A, NC_000014.8:g.39901192T>A, NG_027725.1:g.5513A>T, NM_203301.3:c.175A>T, NM_203301.4:c.175A>T, NP_976046.1:p.Met59Leu

Select item 147960188812.

rs1479601888 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:39431582 (GRCh38)
14:39900786 (GRCh37)
Canonical SPDI:: NC_000014.9:39431581:A:G
Gene:: FBXO33 (Varview), LOC105370461 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000014.9:g.39431582A>G, NC_000014.8:g.39900786A>G, NG_027725.1:g.5919T>C, NM_203301.3:c.581T>C, NM_203301.4:c.581T>C, NP_976046.1:p.Val194Ala

Select item 147750766613.

rs1477507666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:39401335 (GRCh38)
14:39870539 (GRCh37)
Canonical SPDI:: NC_000014.9:39401334:G:C
Gene:: FBXO33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.39401335G>C, NC_000014.8:g.39870539G>C, NG_027725.1:g.36166C>G, NM_203301.3:c.1237C>G, NM_203301.4:c.1237C>G, NP_976046.1:p.Leu413Val

Select item 147747438614.

rs1477474386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:39432039 (GRCh38)
14:39901243 (GRCh37)
Canonical SPDI:: NC_000014.9:39432038:G:A
Gene:: FBXO33 (Varview), LOC105370461 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.39432039G>A, NC_000014.8:g.39901243G>A, NG_027725.1:g.5462C>T, NM_203301.3:c.124C>T, NM_203301.4:c.124C>T, NP_976046.1:p.Leu42Phe

Select item 147504025015.

rs1475040250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:39431957 (GRCh38)
14:39901161 (GRCh37)
Canonical SPDI:: NC_000014.9:39431956:G:A
Gene:: FBXO33 (Varview), LOC105370461 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.39431957G>A, NC_000014.8:g.39901161G>A, NG_027725.1:g.5544C>T, NM_203301.3:c.206C>T, NM_203301.4:c.206C>T, NP_976046.1:p.Ala69Val

Select item 147476133116.

rs1474761331 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:39402410 (GRCh38)
14:39871614 (GRCh37)
Canonical SPDI:: NC_000014.9:39402409:T:C
Gene:: FBXO33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000031/1 (ALFA)
C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.39402410T>C, NC_000014.8:g.39871614T>C, NG_027725.1:g.35091A>G, NM_203301.3:c.701A>G, NM_203301.4:c.701A>G, NP_976046.1:p.Lys234Arg

Select item 147443763317.

rs1474437633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:39401650 (GRCh38)
14:39870854 (GRCh37)
Canonical SPDI:: NC_000014.9:39401649:G:A
Gene:: FBXO33 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.39401650G>A, NC_000014.8:g.39870854G>A, NG_027725.1:g.35851C>T, NM_203301.3:c.922C>T, NM_203301.4:c.922C>T

Select item 147260306218.

rs1472603062 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:39399563 (GRCh38)
14:39868767 (GRCh37)
Canonical SPDI:: NC_000014.9:39399562:T:G
Gene:: FBXO33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.39399563T>G, NC_000014.8:g.39868767T>G, NG_027725.1:g.37938A>C, NM_203301.3:c.1621A>C, NM_203301.4:c.1621A>C, NP_976046.1:p.Asn541His

Select item 146859264019.

rs1468592640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:39431839 (GRCh38)
14:39901043 (GRCh37)
Canonical SPDI:: NC_000014.9:39431838:C:A
Gene:: FBXO33 (Varview), LOC105370461 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.39431839C>A, NC_000014.8:g.39901043C>A, NG_027725.1:g.5662G>T, NM_203301.3:c.324G>T, NM_203301.4:c.324G>T, NP_976046.1:p.Trp108Cys

Select item 146803343320.

rs1468033433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:39401455 (GRCh38)
14:39870659 (GRCh37)
Canonical SPDI:: NC_000014.9:39401454:A:G
Gene:: FBXO33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.39401455A>G, NC_000014.8:g.39870659A>G, NG_027725.1:g.36046T>C, NM_203301.3:c.1117T>C, NM_203301.4:c.1117T>C, NP_976046.1:p.Tyr373His

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