SNP Links for Protein (Select 55743159) - SNP

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:127738019 (GRCh38)
2:128495593 (GRCh37)
Canonical SPDI:: NC_000002.12:127738018:A:C
Gene:: WDR33 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127738019A>C, NC_000002.11:g.128495593A>C, NM_001006623.4:c.760T>G, NM_001006623.3:c.760T>G, NM_001006623.2:c.760T>G, NP_001006624.1:p.Ser254Ala

Select item 145970798310.

rs1459707983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:127770787 (GRCh38)
2:128528361 (GRCh37)
Canonical SPDI:: NC_000002.12:127770786:C:G
Gene:: WDR33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127770787C>G, NC_000002.11:g.128528361C>G, NM_018383.5:c.195G>C, NM_018383.4:c.195G>C, XM_005263697.4:c.195G>C, XM_005263697.3:c.195G>C, XM_005263697.2:c.195G>C, XM_005263697.1:c.195G>C, NM_001006623.4:c.195G>C, NM_001006623.3:c.195G>C, NM_001006623.2:c.195G>C, NM_001006622.3:c.195G>C, NM_001006622.2:c.195G>C, XM_017004436.3:c.195G>C, XM_017004436.2:c.195G>C, XM_017004436.1:c.195G>C, XM_011511436.2:c.195G>C, XM_011511436.1:c.195G>C, NP_060853.3:p.Lys65Asn, XP_005263754.1:p.Lys65Asn, NP_001006624.1:p.Lys65Asn, NP_001006623.1:p.Lys65Asn, XP_016859925.1:p.Lys65Asn, XP_011509738.1:p.Lys65Asn

Select item 145932335911.

rs1459323359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127763129 (GRCh38)
2:128520703 (GRCh37)
Canonical SPDI:: NC_000002.12:127763128:T:C
Gene:: WDR33 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_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_000002.12:g.127763129T>C, NC_000002.11:g.128520703T>C, NM_018383.5:c.657A>G, NM_018383.4:c.657A>G, XM_005263697.4:c.657A>G, XM_005263697.3:c.657A>G, XM_005263697.2:c.657A>G, XM_005263697.1:c.657A>G, NM_001006623.4:c.657A>G, NM_001006623.3:c.657A>G, NM_001006623.2:c.657A>G, NM_001006622.3:c.*1344A>G, NM_001006622.2:c.*1344A>G, XM_017004436.3:c.657A>G, XM_017004436.2:c.657A>G, XM_017004436.1:c.657A>G, XM_011511436.2:c.657A>G, XM_011511436.1:c.657A>G

Select item 145719405512.

rs1457194055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:127770921 (GRCh38)
2:128528495 (GRCh37)
Canonical SPDI:: NC_000002.12:127770920:C:A
Gene:: WDR33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127770921C>A, NC_000002.11:g.128528495C>A, NM_018383.5:c.61G>T, NM_018383.4:c.61G>T, XM_005263697.4:c.61G>T, XM_005263697.3:c.61G>T, XM_005263697.2:c.61G>T, XM_005263697.1:c.61G>T, NM_001006623.4:c.61G>T, NM_001006623.3:c.61G>T, NM_001006623.2:c.61G>T, NM_001006622.3:c.61G>T, NM_001006622.2:c.61G>T, XM_017004436.3:c.61G>T, XM_017004436.2:c.61G>T, XM_017004436.1:c.61G>T, XM_011511436.2:c.61G>T, XM_011511436.1:c.61G>T, NP_060853.3:p.Ala21Ser, XP_005263754.1:p.Ala21Ser, NP_001006624.1:p.Ala21Ser, NP_001006623.1:p.Ala21Ser, XP_016859925.1:p.Ala21Ser, XP_011509738.1:p.Ala21Ser

Select item 144634212413.

rs1446342124 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127764959 (GRCh38)
2:128522533 (GRCh37)
Canonical SPDI:: NC_000002.12:127764958:C:T
Gene:: WDR33 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.127764959C>T, NC_000002.11:g.128522533C>T, NM_018383.5:c.495G>A, NM_018383.4:c.495G>A, XM_005263697.4:c.495G>A, XM_005263697.3:c.495G>A, XM_005263697.2:c.495G>A, XM_005263697.1:c.495G>A, NM_001006623.4:c.495G>A, NM_001006623.3:c.495G>A, NM_001006623.2:c.495G>A, NM_001006622.3:c.495G>A, NM_001006622.2:c.495G>A, XM_017004436.3:c.495G>A, XM_017004436.2:c.495G>A, XM_017004436.1:c.495G>A, XM_011511436.2:c.495G>A, XM_011511436.1:c.495G>A

Select item 144208474414.

rs1442084744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127770871 (GRCh38)
2:128528445 (GRCh37)
Canonical SPDI:: NC_000002.12:127770870:T:C
Gene:: WDR33 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127770871T>C, NC_000002.11:g.128528445T>C, NM_018383.5:c.111A>G, NM_018383.4:c.111A>G, XM_005263697.4:c.111A>G, XM_005263697.3:c.111A>G, XM_005263697.2:c.111A>G, XM_005263697.1:c.111A>G, NM_001006623.4:c.111A>G, NM_001006623.3:c.111A>G, NM_001006623.2:c.111A>G, NM_001006622.3:c.111A>G, NM_001006622.2:c.111A>G, XM_017004436.3:c.111A>G, XM_017004436.2:c.111A>G, XM_017004436.1:c.111A>G, XM_011511436.2:c.111A>G, XM_011511436.1:c.111A>G

Select item 143899804215.

rs1438998042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127770817 (GRCh38)
2:128528391 (GRCh37)
Canonical SPDI:: NC_000002.12:127770816:T:C
Gene:: WDR33 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127770817T>C, NC_000002.11:g.128528391T>C, NM_018383.5:c.165A>G, NM_018383.4:c.165A>G, XM_005263697.4:c.165A>G, XM_005263697.3:c.165A>G, XM_005263697.2:c.165A>G, XM_005263697.1:c.165A>G, NM_001006623.4:c.165A>G, NM_001006623.3:c.165A>G, NM_001006623.2:c.165A>G, NM_001006622.3:c.165A>G, NM_001006622.2:c.165A>G, XM_017004436.3:c.165A>G, XM_017004436.2:c.165A>G, XM_017004436.1:c.165A>G, XM_011511436.2:c.165A>G, XM_011511436.1:c.165A>G

Select item 143828669216.

rs1438286692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127763116 (GRCh38)
2:128520690 (GRCh37)
Canonical SPDI:: NC_000002.12:127763115:C:T
Gene:: WDR33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127763116C>T, NC_000002.11:g.128520690C>T, NM_018383.5:c.670G>A, NM_018383.4:c.670G>A, XM_005263697.4:c.670G>A, XM_005263697.3:c.670G>A, XM_005263697.2:c.670G>A, XM_005263697.1:c.670G>A, NM_001006623.4:c.670G>A, NM_001006623.3:c.670G>A, NM_001006623.2:c.670G>A, NM_001006622.3:c.*1357G>A, NM_001006622.2:c.*1357G>A, XM_017004436.3:c.670G>A, XM_017004436.2:c.670G>A, XM_017004436.1:c.670G>A, XM_011511436.2:c.670G>A, XM_011511436.1:c.670G>A, NP_060853.3:p.Gly224Ser, XP_005263754.1:p.Gly224Ser, NP_001006624.1:p.Gly224Ser, XP_016859925.1:p.Gly224Ser, XP_011509738.1:p.Gly224Ser

Select item 143413897717.

rs1434138977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:127738032 (GRCh38)
2:128495606 (GRCh37)
Canonical SPDI:: NC_000002.12:127738031:A:T
Gene:: WDR33 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127738032A>T, NC_000002.11:g.128495606A>T, NM_001006623.4:c.747T>A, NM_001006623.3:c.747T>A, NM_001006623.2:c.747T>A

Select item 142876427618.

rs1428764276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:127770954 (GRCh38)
2:128528528 (GRCh37)
Canonical SPDI:: NC_000002.12:127770953:G:A,NC_000002.12:127770953:G:T
Gene:: WDR33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.127770954G>A, NC_000002.12:g.127770954G>T, NC_000002.11:g.128528528G>A, NC_000002.11:g.128528528G>T, NM_018383.5:c.28C>T, NM_018383.5:c.28C>A, NM_018383.4:c.28C>T, NM_018383.4:c.28C>A, XM_005263697.4:c.28C>T, XM_005263697.4:c.28C>A, XM_005263697.3:c.28C>T, XM_005263697.3:c.28C>A, XM_005263697.2:c.28C>T, XM_005263697.2:c.28C>A, XM_005263697.1:c.28C>T, XM_005263697.1:c.28C>A, NM_001006623.4:c.28C>T, NM_001006623.4:c.28C>A, NM_001006623.3:c.28C>T, NM_001006623.3:c.28C>A, NM_001006623.2:c.28C>T, NM_001006623.2:c.28C>A, NM_001006622.3:c.28C>T, NM_001006622.3:c.28C>A, NM_001006622.2:c.28C>T, NM_001006622.2:c.28C>A, XM_017004436.3:c.28C>T, XM_017004436.3:c.28C>A, XM_017004436.2:c.28C>T, XM_017004436.2:c.28C>A, XM_017004436.1:c.28C>T, XM_017004436.1:c.28C>A, XM_011511436.2:c.28C>T, XM_011511436.2:c.28C>A, XM_011511436.1:c.28C>T, XM_011511436.1:c.28C>A, NP_060853.3:p.Arg10Cys, NP_060853.3:p.Arg10Ser, XP_005263754.1:p.Arg10Cys, XP_005263754.1:p.Arg10Ser, NP_001006624.1:p.Arg10Cys, NP_001006624.1:p.Arg10Ser, NP_001006623.1:p.Arg10Cys, NP_001006623.1:p.Arg10Ser, XP_016859925.1:p.Arg10Cys, XP_016859925.1:p.Arg10Ser, XP_011509738.1:p.Arg10Cys, XP_011509738.1:p.Arg10Ser

Select item 142520085519.

rs1425200855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127768978 (GRCh38)
2:128526552 (GRCh37)
Canonical SPDI:: NC_000002.12:127768977:C:T
Gene:: WDR33 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127768978C>T, NC_000002.11:g.128526552C>T, NM_018383.5:c.228G>A, NM_018383.4:c.228G>A, XM_005263697.4:c.228G>A, XM_005263697.3:c.228G>A, XM_005263697.2:c.228G>A, XM_005263697.1:c.228G>A, NM_001006623.4:c.228G>A, NM_001006623.3:c.228G>A, NM_001006623.2:c.228G>A, NM_001006622.3:c.228G>A, NM_001006622.2:c.228G>A, XM_017004436.3:c.228G>A, XM_017004436.2:c.228G>A, XM_017004436.1:c.228G>A, XM_011511436.2:c.228G>A, XM_011511436.1:c.228G>A

Select item 141879123820.

rs1418791238 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127770806 (GRCh38)
2:128528380 (GRCh37)
Canonical SPDI:: NC_000002.12:127770805:T:C
Gene:: WDR33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000002.12:g.127770806T>C, NC_000002.11:g.128528380T>C, NM_018383.5:c.176A>G, NM_018383.4:c.176A>G, XM_005263697.4:c.176A>G, XM_005263697.3:c.176A>G, XM_005263697.2:c.176A>G, XM_005263697.1:c.176A>G, NM_001006623.4:c.176A>G, NM_001006623.3:c.176A>G, NM_001006623.2:c.176A>G, NM_001006622.3:c.176A>G, NM_001006622.2:c.176A>G, XM_017004436.3:c.176A>G, XM_017004436.2:c.176A>G, XM_017004436.1:c.176A>G, XM_011511436.2:c.176A>G, XM_011511436.1:c.176A>G, NP_060853.3:p.Tyr59Cys, XP_005263754.1:p.Tyr59Cys, NP_001006624.1:p.Tyr59Cys, NP_001006623.1:p.Tyr59Cys, XP_016859925.1:p.Tyr59Cys, XP_011509738.1:p.Tyr59Cys

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