SNP Links for Protein (Select 20070166) - SNP

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Links from Protein

Items: 1 to 20 of 452

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Select item 14880837811.

rs1488083781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:10913218 (GRCh38)
2:11053344 (GRCh37)
Canonical SPDI:: NC_000002.12:10913217:C:G
Gene:: KCNF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.10913218C>G, NC_000002.11:g.11053344C>G, NG_050750.1:g.6282C>G, NM_002236.5:c.792C>G, NM_002236.4:c.792C>G

Select item 14860450922.

rs1486045092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:10912657 (GRCh38)
2:11052783 (GRCh37)
Canonical SPDI:: NC_000002.12:10912656:C:T
Gene:: KCNF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.10912657C>T, NC_000002.11:g.11052783C>T, NG_050750.1:g.5721C>T, NM_002236.5:c.231C>T, NM_002236.4:c.231C>T

Select item 14848014263.

rs1484801426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:10912853 (GRCh38)
2:11052979 (GRCh37)
Canonical SPDI:: NC_000002.12:10912852:C:A,NC_000002.12:10912852:C:T
Gene:: KCNF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.10912853C>A, NC_000002.12:g.10912853C>T, NC_000002.11:g.11052979C>A, NC_000002.11:g.11052979C>T, NG_050750.1:g.5917C>A, NG_050750.1:g.5917C>T, NM_002236.5:c.427C>A, NM_002236.5:c.427C>T, NM_002236.4:c.427C>A, NM_002236.4:c.427C>T, NP_002227.2:p.Arg143Ser, NP_002227.2:p.Arg143Cys

Select item 14844573654.

rs1484457365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:10913071 (GRCh38)
2:11053197 (GRCh37)
Canonical SPDI:: NC_000002.12:10913070:C:A
Gene:: KCNF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.10913071C>A, NC_000002.11:g.11053197C>A, NG_050750.1:g.6135C>A, NM_002236.5:c.645C>A, NM_002236.4:c.645C>A, NP_002227.2:p.Asn215Lys

Select item 14831967365.

rs1483196736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:10912974 (GRCh38)
2:11053100 (GRCh37)
Canonical SPDI:: NC_000002.12:10912973:T:C
Gene:: KCNF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.10912974T>C, NC_000002.11:g.11053100T>C, NG_050750.1:g.6038T>C, NM_002236.5:c.548T>C, NM_002236.4:c.548T>C, NP_002227.2:p.Val183Ala

Select item 14814130706.

rs1481413070 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:10913738 (GRCh38)
2:11053864 (GRCh37)
Canonical SPDI:: NC_000002.12:10913737:G:A
Gene:: KCNF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.10913738G>A, NC_000002.11:g.11053864G>A, NG_050750.1:g.6802G>A, NM_002236.5:c.1312G>A, NM_002236.4:c.1312G>A, NP_002227.2:p.Gly438Ser

Select item 14758603057.

rs1475860305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:10913067 (GRCh38)
2:11053193 (GRCh37)
Canonical SPDI:: NC_000002.12:10913066:G:A
Gene:: KCNF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.10913067G>A, NC_000002.11:g.11053193G>A, NG_050750.1:g.6131G>A, NM_002236.5:c.641G>A, NM_002236.4:c.641G>A, NP_002227.2:p.Gly214Asp

Select item 14756909938.

rs1475690993 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:10912443 (GRCh38)
2:11052569 (GRCh37)
Canonical SPDI:: NC_000002.12:10912442:A:G
Gene:: KCNF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.10912443A>G, NC_000002.11:g.11052569A>G, NG_050750.1:g.5507A>G, NM_002236.5:c.17A>G, NM_002236.4:c.17A>G, NP_002227.2:p.Glu6Gly

Select item 14706447529.

rs1470644752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:10912801 (GRCh38)
2:11052927 (GRCh37)
Canonical SPDI:: NC_000002.12:10912800:C:G
Gene:: KCNF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.10912801C>G, NC_000002.11:g.11052927C>G, NG_050750.1:g.5865C>G, NM_002236.5:c.375C>G, NM_002236.4:c.375C>G, NP_002227.2:p.Asp125Glu

Select item 146978001110.

rs1469780011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:10912543 (GRCh38)
2:11052669 (GRCh37)
Canonical SPDI:: NC_000002.12:10912542:C:T
Gene:: KCNF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.10912543C>T, NC_000002.11:g.11052669C>T, NG_050750.1:g.5607C>T, NM_002236.5:c.117C>T, NM_002236.4:c.117C>T

Select item 146840311411.

rs1468403114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:10913446 (GRCh38)
2:11053572 (GRCh37)
Canonical SPDI:: NC_000002.12:10913445:C:T
Gene:: KCNF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.10913446C>T, NC_000002.11:g.11053572C>T, NG_050750.1:g.6510C>T, NM_002236.5:c.1020C>T, NM_002236.4:c.1020C>T

Select item 146813884912.

rs1468138849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:10913167 (GRCh38)
2:11053293 (GRCh37)
Canonical SPDI:: NC_000002.12:10913166:G:A
Gene:: KCNF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.10913167G>A, NC_000002.11:g.11053293G>A, NG_050750.1:g.6231G>A, NM_002236.5:c.741G>A, NM_002236.4:c.741G>A

Select item 146739411513.

rs1467394115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:10913014 (GRCh38)
2:11053140 (GRCh37)
Canonical SPDI:: NC_000002.12:10913013:C:G
Gene:: KCNF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.10913014C>G, NC_000002.11:g.11053140C>G, NG_050750.1:g.6078C>G, NM_002236.5:c.588C>G, NM_002236.4:c.588C>G

Select item 146726138614.

rs1467261386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:10913861 (GRCh38)
2:11053987 (GRCh37)
Canonical SPDI:: NC_000002.12:10913860:C:A,NC_000002.12:10913860:C:G
Gene:: KCNF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000002.12:g.10913861C>A, NC_000002.12:g.10913861C>G, NC_000002.11:g.11053987C>A, NC_000002.11:g.11053987C>G, NG_050750.1:g.6925C>A, NG_050750.1:g.6925C>G, NM_002236.5:c.1435C>A, NM_002236.5:c.1435C>G, NM_002236.4:c.1435C>A, NM_002236.4:c.1435C>G, NP_002227.2:p.Leu479Ile, NP_002227.2:p.Leu479Val

Select item 146713768015.

rs1467137680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:10912568 (GRCh38)
2:11052694 (GRCh37)
Canonical SPDI:: NC_000002.12:10912567:C:T
Gene:: KCNF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.10912568C>T, NC_000002.11:g.11052694C>T, NG_050750.1:g.5632C>T, NM_002236.5:c.142C>T, NM_002236.4:c.142C>T, NP_002227.2:p.Arg48Trp

Select item 146289320816.

rs1462893208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:10913892 (GRCh38)
2:11054018 (GRCh37)
Canonical SPDI:: NC_000002.12:10913891:G:A,NC_000002.12:10913891:G:C
Gene:: KCNF1 (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)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.10913892G>A, NC_000002.12:g.10913892G>C, NC_000002.11:g.11054018G>A, NC_000002.11:g.11054018G>C, NG_050750.1:g.6956G>A, NG_050750.1:g.6956G>C, NM_002236.5:c.1466G>A, NM_002236.5:c.1466G>C, NM_002236.4:c.1466G>A, NM_002236.4:c.1466G>C, NP_002227.2:p.Arg489Gln, NP_002227.2:p.Arg489Pro

Select item 146101185417.

rs1461011854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:10912450 (GRCh38)
2:11052576 (GRCh37)
Canonical SPDI:: NC_000002.12:10912449:C:T
Gene:: KCNF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.10912450C>T, NC_000002.11:g.11052576C>T, NG_050750.1:g.5514C>T, NM_002236.5:c.24C>T, NM_002236.4:c.24C>T

Select item 145683330018.

rs1456833300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:10913807 (GRCh38)
2:11053933 (GRCh37)
Canonical SPDI:: NC_000002.12:10913806:G:A,NC_000002.12:10913806:G:T
Gene:: KCNF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000048/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.10913807G>A, NC_000002.12:g.10913807G>T, NC_000002.11:g.11053933G>A, NC_000002.11:g.11053933G>T, NG_050750.1:g.6871G>A, NG_050750.1:g.6871G>T, NM_002236.5:c.1381G>A, NM_002236.5:c.1381G>T, NM_002236.4:c.1381G>A, NM_002236.4:c.1381G>T, NP_002227.2:p.Ala461Thr, NP_002227.2:p.Ala461Ser

Select item 145495208719.

rs1454952087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:10913774 (GRCh38)
2:11053900 (GRCh37)
Canonical SPDI:: NC_000002.12:10913773:G:A
Gene:: KCNF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.10913774G>A, NC_000002.11:g.11053900G>A, NG_050750.1:g.6838G>A, NM_002236.5:c.1348G>A, NM_002236.4:c.1348G>A, NP_002227.2:p.Asp450Asn

Select item 144677638420.

rs1446776384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:10912997 (GRCh38)
2:11053123 (GRCh37)
Canonical SPDI:: NC_000002.12:10912996:C:T
Gene:: KCNF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.10912997C>T, NC_000002.11:g.11053123C>T, NG_050750.1:g.6061C>T, NM_002236.5:c.571C>T, NM_002236.4:c.571C>T, NP_002227.2:p.Leu191Phe

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