SNP Links for Protein (Select 6453818) - SNP

Links from Protein

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Select item 14906654821.

rs1490665482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:29805292 (GRCh38)
16:29816613 (GRCh37)
Canonical SPDI:: NC_000016.10:29805291:G:A,NC_000016.10:29805291:G:T
Gene:: KIF22 (Varview), MAZ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.29805292G>A, NC_000016.10:g.29805292G>T, NC_000016.9:g.29816613G>A, NC_000016.9:g.29816613G>T, NG_032055.1:g.19580G>A, NG_032055.1:g.19580G>T, NM_007317.3:c.1980G>A, NM_007317.3:c.1980G>T, NM_007317.2:c.1980G>A, NM_007317.2:c.1980G>T, NM_001256269.2:c.1776G>A, NM_001256269.2:c.1776G>T, NM_001256269.1:c.1776G>A, NM_001256269.1:c.1776G>T, NM_001256270.1:c.1776G>A, NM_001256270.1:c.1776G>T, NP_015556.1:p.Gln660His, NP_001243198.1:p.Gln592His, NP_001243199.1:p.Gln592His

Select item 14902673932.

rs1490267393 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:29798409 (GRCh38)
16:29809730 (GRCh37)
Canonical SPDI:: NC_000016.10:29798408:A:G
Gene:: KIF22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.29798409A>G, NC_000016.9:g.29809730A>G, NG_032055.1:g.12697A>G, NM_007317.3:c.302A>G, NM_007317.2:c.302A>G, NM_001256269.2:c.98A>G, NM_001256269.1:c.98A>G, NM_001256270.1:c.98A>G, XM_047434095.1:c.302A>G, XM_047434094.1:c.302A>G, NP_015556.1:p.Gln101Arg, NP_001243198.1:p.Gln33Arg, NP_001243199.1:p.Gln33Arg, XP_047290051.1:p.Gln101Arg, XP_047290050.1:p.Gln101Arg

Select item 14892082863.

rs1489208286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29805005 (GRCh38)
16:29816326 (GRCh37)
Canonical SPDI:: NC_000016.10:29805004:G:A
Gene:: KIF22 (Varview), MAZ (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.29805005G>A, NC_000016.9:g.29816326G>A, NG_032055.1:g.19293G>A, NM_007317.3:c.1869G>A, NM_007317.2:c.1869G>A, NM_001256269.2:c.1665G>A, NM_001256269.1:c.1665G>A, NM_001256270.1:c.1665G>A

Select item 14876222334.

rs1487622233 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:29798695 (GRCh38)
16:29810016 (GRCh37)
Canonical SPDI:: NC_000016.10:29798694:GG:G
Gene:: KIF22 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.29798696del, NC_000016.9:g.29810017del, NG_032055.1:g.12984del, NM_007317.3:c.498del, NM_007317.2:c.498del, NM_001256269.2:c.294del, NM_001256269.1:c.294del, NM_001256270.1:c.294del, XM_047434095.1:c.498del, XM_047434094.1:c.498del, NP_015556.1:p.Pro167fs, NP_001243198.1:p.Pro99fs, NP_001243199.1:p.Pro99fs, XP_047290051.1:p.Pro167fs, XP_047290050.1:p.Pro167fs

Select item 14867862975.

rs1486786297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:29802888 (GRCh38)
16:29814209 (GRCh37)
Canonical SPDI:: NC_000016.10:29802887:A:G
Gene:: KIF22 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.29802888A>G, NC_000016.9:g.29814209A>G, NG_032055.1:g.17176A>G, NM_007317.3:c.1400A>G, NM_007317.2:c.1400A>G, NM_001256269.2:c.1196A>G, NM_001256269.1:c.1196A>G, NM_001256270.1:c.1196A>G, XM_047434094.1:c.1400A>G, NP_015556.1:p.Glu467Gly, NP_001243198.1:p.Glu399Gly, NP_001243199.1:p.Glu399Gly, XP_047290050.1:p.Glu467Gly

Select item 14861790526.

rs1486179052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29805275 (GRCh38)
16:29816596 (GRCh37)
Canonical SPDI:: NC_000016.10:29805274:G:A
Gene:: KIF22 (Varview), MAZ (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29805275G>A, NC_000016.9:g.29816596G>A, NG_032055.1:g.19563G>A, NM_007317.3:c.1963G>A, NM_007317.2:c.1963G>A, NM_001256269.2:c.1759G>A, NM_001256269.1:c.1759G>A, NM_001256270.1:c.1759G>A, NP_015556.1:p.Gly655Ser, NP_001243198.1:p.Gly587Ser, NP_001243199.1:p.Gly587Ser

Select item 14859827627.

rs1485982762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29805307 (GRCh38)
16:29816628 (GRCh37)
Canonical SPDI:: NC_000016.10:29805306:C:T
Gene:: KIF22 (Varview), MAZ (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.29805307C>T, NC_000016.9:g.29816628C>T, NG_032055.1:g.19595C>T, NM_007317.3:c.1995C>T, NM_007317.2:c.1995C>T, NM_001256269.2:c.1791C>T, NM_001256269.1:c.1791C>T, NM_001256270.1:c.1791C>T

Select item 14832755268.

rs1483275526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29802818 (GRCh38)
16:29814139 (GRCh37)
Canonical SPDI:: NC_000016.10:29802817:C:T
Gene:: KIF22 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29802818C>T, NC_000016.9:g.29814139C>T, NG_032055.1:g.17106C>T, NM_007317.3:c.1330C>T, NM_007317.2:c.1330C>T, NM_001256269.2:c.1126C>T, NM_001256269.1:c.1126C>T, NM_001256270.1:c.1126C>T, XM_047434094.1:c.1330C>T, NP_015556.1:p.Leu444Phe, NP_001243198.1:p.Leu376Phe, NP_001243199.1:p.Leu376Phe, XP_047290050.1:p.Leu444Phe

Select item 14826614789.

rs1482661478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29799473 (GRCh38)
16:29810794 (GRCh37)
Canonical SPDI:: NC_000016.10:29799472:C:T
Gene:: KIF22 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29799473C>T, NC_000016.9:g.29810794C>T, NG_032055.1:g.13761C>T, NM_007317.3:c.969C>T, NM_007317.2:c.969C>T, NM_001256269.2:c.765C>T, NM_001256269.1:c.765C>T, NM_001256270.1:c.765C>T, XM_047434095.1:c.969C>T, XM_047434094.1:c.969C>T

Select item 148243585810.

rs1482435858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:29803576 (GRCh38)
16:29814897 (GRCh37)
Canonical SPDI:: NC_000016.10:29803575:T:G
Gene:: KIF22 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_lost,terminator_codon_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.29803576T>G, NC_000016.9:g.29814897T>G, NG_032055.1:g.17864T>G, NM_007317.3:c.1577T>G, NM_007317.2:c.1577T>G, NM_001256269.2:c.1373T>G, NM_001256269.1:c.1373T>G, NM_001256270.1:c.1373T>G, XM_047434094.1:c.1627T>G, NP_015556.1:p.Leu526Arg, NP_001243198.1:p.Leu458Arg, NP_001243199.1:p.Leu458Arg, XP_047290050.1:p.Ter543Gly

Select item 148065503411.

rs1480655034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29798716 (GRCh38)
16:29810037 (GRCh37)
Canonical SPDI:: NC_000016.10:29798715:C:T
Gene:: KIF22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29798716C>T, NC_000016.9:g.29810037C>T, NG_032055.1:g.13004C>T, NM_007317.3:c.518C>T, NM_007317.2:c.518C>T, NM_001256269.2:c.314C>T, NM_001256269.1:c.314C>T, NM_001256270.1:c.314C>T, XM_047434095.1:c.518C>T, XM_047434094.1:c.518C>T, NP_015556.1:p.Thr173Ile, NP_001243198.1:p.Thr105Ile, NP_001243199.1:p.Thr105Ile, XP_047290051.1:p.Thr173Ile, XP_047290050.1:p.Thr173Ile

Select item 147627096812.

rs1476270968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:29804928 (GRCh38)
16:29816249 (GRCh37)
Canonical SPDI:: NC_000016.10:29804927:G:A,NC_000016.10:29804927:G:C,NC_000016.10:29804927:G:T
Gene:: KIF22 (Varview), MAZ (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,stop_gained,coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.29804928G>A, NC_000016.10:g.29804928G>C, NC_000016.10:g.29804928G>T, NC_000016.9:g.29816249G>A, NC_000016.9:g.29816249G>C, NC_000016.9:g.29816249G>T, NG_032055.1:g.19216G>A, NG_032055.1:g.19216G>C, NG_032055.1:g.19216G>T, NM_007317.3:c.1792G>A, NM_007317.3:c.1792G>C, NM_007317.3:c.1792G>T, NM_007317.2:c.1792G>A, NM_007317.2:c.1792G>C, NM_007317.2:c.1792G>T, NM_001256269.2:c.1588G>A, NM_001256269.2:c.1588G>C, NM_001256269.2:c.1588G>T, NM_001256269.1:c.1588G>A, NM_001256269.1:c.1588G>C, NM_001256269.1:c.1588G>T, NM_001256270.1:c.1588G>A, NM_001256270.1:c.1588G>C, NM_001256270.1:c.1588G>T, NP_015556.1:p.Glu598Lys, NP_015556.1:p.Glu598Gln, NP_015556.1:p.Glu598Ter, NP_001243198.1:p.Glu530Lys, NP_001243198.1:p.Glu530Gln, NP_001243198.1:p.Glu530Ter, NP_001243199.1:p.Glu530Lys, NP_001243199.1:p.Glu530Gln, NP_001243199.1:p.Glu530Ter

Select item 147533363013.

rs1475333630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:29802877 (GRCh38)
16:29814198 (GRCh37)
Canonical SPDI:: NC_000016.10:29802876:C:G
Gene:: KIF22 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_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_000016.10:g.29802877C>G, NC_000016.9:g.29814198C>G, NG_032055.1:g.17165C>G, NM_007317.3:c.1389C>G, NM_007317.2:c.1389C>G, NM_001256269.2:c.1185C>G, NM_001256269.1:c.1185C>G, NM_001256270.1:c.1185C>G, XM_047434094.1:c.1389C>G

Select item 147473476514.

rs1474734765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:29804047 (GRCh38)
16:29815368 (GRCh37)
Canonical SPDI:: NC_000016.10:29804046:T:C
Gene:: KIF22 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_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_000016.10:g.29804047T>C, NC_000016.9:g.29815368T>C, NG_032055.1:g.18335T>C, NM_007317.3:c.1659T>C, NM_007317.2:c.1659T>C, NM_001256269.2:c.1455T>C, NM_001256269.1:c.1455T>C, NM_001256270.1:c.1455T>C, XM_047434094.1:c.*80T>C

Select item 147443833315.

rs1474438333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:29796925 (GRCh38)
16:29808246 (GRCh37)
Canonical SPDI:: NC_000016.10:29796924:G:A,NC_000016.10:29796924:G:C
Gene:: KIF22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.29796925G>A, NC_000016.10:g.29796925G>C, NC_000016.9:g.29808246G>A, NC_000016.9:g.29808246G>C, NG_032055.1:g.11213G>A, NG_032055.1:g.11213G>C, NM_007317.3:c.103G>A, NM_007317.3:c.103G>C, NM_007317.2:c.103G>A, NM_007317.2:c.103G>C, NM_001256269.2:c.-102G>A, NM_001256269.2:c.-102G>C, NM_001256269.1:c.-102G>A, NM_001256269.1:c.-102G>C, NM_001256270.1:c.-102G>A, NM_001256270.1:c.-102G>C, XM_047434095.1:c.103G>A, XM_047434095.1:c.103G>C, XM_047434094.1:c.103G>A, XM_047434094.1:c.103G>C, NP_015556.1:p.Ala35Thr, NP_015556.1:p.Ala35Pro, XP_047290051.1:p.Ala35Thr, XP_047290051.1:p.Ala35Pro, XP_047290050.1:p.Ala35Thr, XP_047290050.1:p.Ala35Pro

Select item 147152817116.

rs1471528171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:29805285 (GRCh38)
16:29816606 (GRCh37)
Canonical SPDI:: NC_000016.10:29805284:C:G,NC_000016.10:29805284:C:T
Gene:: KIF22 (Varview), MAZ (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29805285C>G, NC_000016.10:g.29805285C>T, NC_000016.9:g.29816606C>G, NC_000016.9:g.29816606C>T, NG_032055.1:g.19573C>G, NG_032055.1:g.19573C>T, NM_007317.3:c.1973C>G, NM_007317.3:c.1973C>T, NM_007317.2:c.1973C>G, NM_007317.2:c.1973C>T, NM_001256269.2:c.1769C>G, NM_001256269.2:c.1769C>T, NM_001256269.1:c.1769C>G, NM_001256269.1:c.1769C>T, NM_001256270.1:c.1769C>G, NM_001256270.1:c.1769C>T, NP_015556.1:p.Ala658Gly, NP_015556.1:p.Ala658Val, NP_001243198.1:p.Ala590Gly, NP_001243198.1:p.Ala590Val, NP_001243199.1:p.Ala590Gly, NP_001243199.1:p.Ala590Val

Select item 147094202017.

rs1470942020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:29799491 (GRCh38)
16:29810812 (GRCh37)
Canonical SPDI:: NC_000016.10:29799490:G:A,NC_000016.10:29799490:G:C
Gene:: KIF22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.29799491G>A, NC_000016.10:g.29799491G>C, NC_000016.9:g.29810812G>A, NC_000016.9:g.29810812G>C, NG_032055.1:g.13779G>A, NG_032055.1:g.13779G>C, NM_007317.3:c.987G>A, NM_007317.3:c.987G>C, NM_007317.2:c.987G>A, NM_007317.2:c.987G>C, NM_001256269.2:c.783G>A, NM_001256269.2:c.783G>C, NM_001256269.1:c.783G>A, NM_001256269.1:c.783G>C, NM_001256270.1:c.783G>A, NM_001256270.1:c.783G>C, XM_047434095.1:c.987G>A, XM_047434095.1:c.987G>C, XM_047434094.1:c.987G>A, XM_047434094.1:c.987G>C, NP_015556.1:p.Leu329Phe, NP_001243198.1:p.Leu261Phe, NP_001243199.1:p.Leu261Phe, XP_047290051.1:p.Leu329Phe, XP_047290050.1:p.Leu329Phe

Select item 147085133218.

rs1470851332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29798661 (GRCh38)
16:29809982 (GRCh37)
Canonical SPDI:: NC_000016.10:29798660:C:T
Gene:: KIF22 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.29798661C>T, NC_000016.9:g.29809982C>T, NG_032055.1:g.12949C>T, NM_007317.3:c.463C>T, NM_007317.2:c.463C>T, NM_001256269.2:c.259C>T, NM_001256269.1:c.259C>T, NM_001256270.1:c.259C>T, XM_047434095.1:c.463C>T, XM_047434094.1:c.463C>T

Select item 146720898019.

rs1467208980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:29790774 (GRCh38)
16:29802095 (GRCh37)
Canonical SPDI:: NC_000016.10:29790773:C:G
Gene:: KIF22 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000016.10:g.29790774C>G, NC_000016.9:g.29802095C>G, NG_032055.1:g.5062C>G, NM_007317.3:c.15C>G, NM_007317.2:c.15C>G, NM_001256269.2:c.-239C>G, NM_001256269.1:c.-239C>G, XM_047434095.1:c.15C>G, XM_047434094.1:c.15C>G

Select item 146166703820.

rs1461667038 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:29799044 (GRCh38)
16:29810365 (GRCh37)
Canonical SPDI:: NC_000016.10:29799043:A:C
Gene:: KIF22 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29799044A>C, NC_000016.9:g.29810365A>C, NG_032055.1:g.13332A>C, NM_007317.3:c.619A>C, NM_007317.2:c.619A>C, NM_001256269.2:c.415A>C, NM_001256269.1:c.415A>C, NM_001256270.1:c.415A>C, XM_047434095.1:c.619A>C, XM_047434094.1:c.619A>C, NP_015556.1:p.Ile207Leu, NP_001243198.1:p.Ile139Leu, NP_001243199.1:p.Ile139Leu, XP_047290051.1:p.Ile207Leu, XP_047290050.1:p.Ile207Leu

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