SNP Links for Protein (Select 16118231) - SNP

Links from Protein

Items: 1 to 20 of 387

<< First< Prev

Page of 20

Next >Last >>

Select item 14899562961.

rs1489956296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65593197 (GRCh38)
11:65360668 (GRCh37)
Canonical SPDI:: NC_000011.10:65593196:T:C
Gene:: KCNK7 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65593197T>C, NC_000011.9:g.65360668T>C, NM_005714.2:c.*223A>G, NM_005714.1:c.*223A>G, NM_033455.2:c.*146A>G, NM_033455.1:c.*146A>G, NM_033348.2:c.*47A>G, NM_033348.1:c.*47A>G, NM_033347.2:c.732A>G, NM_033347.1:c.732A>G, NM_033456.1:c.*124A>G

Select item 14886732482.

rs1488673248 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGCTGCGGCC [Show Flanks]
Chromosome:: 11:65593515 (GRCh38)
11:65360987 (GRCh37)
Canonical SPDI:: NC_000011.10:65593515:CAGGCTGCGGCC:CAGGCTGCGGCCAGGCTGCGGCC
Gene:: KCNK7 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: CAGGCTGCGGC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65593517_65593527dup, NC_000011.9:g.65360988_65360998dup, NM_005714.2:c.668_678dup, NM_005714.1:c.668_678dup, NM_033455.2:c.668_678dup, NM_033455.1:c.668_678dup, NM_033348.2:c.668_678dup, NM_033348.1:c.668_678dup, NM_033347.2:c.668_678dup, NM_033347.1:c.668_678dup, NM_033456.1:c.668_678dup, NP_005705.1:p.His227fs, NP_258416.1:p.His227fs, NP_203134.1:p.His227fs, NP_203133.1:p.His227fs

Select item 14845892613.

rs1484589261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:65593568 (GRCh38)
11:65361039 (GRCh37)
Canonical SPDI:: NC_000011.10:65593567:G:A,NC_000011.10:65593567:G:C
Gene:: KCNK7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000021/5 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65593568G>A, NC_000011.10:g.65593568G>C, NC_000011.9:g.65361039G>A, NC_000011.9:g.65361039G>C, NM_005714.2:c.626C>T, NM_005714.2:c.626C>G, NM_005714.1:c.626C>T, NM_005714.1:c.626C>G, NM_033455.2:c.626C>T, NM_033455.2:c.626C>G, NM_033455.1:c.626C>T, NM_033455.1:c.626C>G, NM_033348.2:c.626C>T, NM_033348.2:c.626C>G, NM_033348.1:c.626C>T, NM_033348.1:c.626C>G, NM_033347.2:c.626C>T, NM_033347.2:c.626C>G, NM_033347.1:c.626C>T, NM_033347.1:c.626C>G, NM_033456.1:c.626C>T, NM_033456.1:c.626C>G, NP_005705.1:p.Ser209Leu, NP_005705.1:p.Ser209Trp, NP_258416.1:p.Ser209Leu, NP_258416.1:p.Ser209Trp, NP_203134.1:p.Ser209Leu, NP_203134.1:p.Ser209Trp, NP_203133.1:p.Ser209Leu, NP_203133.1:p.Ser209Trp

Select item 14828523804.

rs1482852380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:65595688 (GRCh38)
11:65363159 (GRCh37)
Canonical SPDI:: NC_000011.10:65595687:G:C
Gene:: KCNK7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65595688G>C, NC_000011.9:g.65363159G>C, NM_005714.2:c.85C>G, NM_005714.1:c.85C>G, NM_033455.2:c.85C>G, NM_033455.1:c.85C>G, NM_033348.2:c.85C>G, NM_033348.1:c.85C>G, NM_033347.2:c.85C>G, NM_033347.1:c.85C>G, NM_033456.1:c.85C>G, NP_005705.1:p.Gln29Glu, NP_258416.1:p.Gln29Glu, NP_203134.1:p.Gln29Glu, NP_203133.1:p.Gln29Glu

Select item 14820372645.

rs1482037264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65595603 (GRCh38)
11:65363074 (GRCh37)
Canonical SPDI:: NC_000011.10:65595602:C:T
Gene:: KCNK7 (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_000011.10:g.65595603C>T, NC_000011.9:g.65363074C>T, NM_005714.2:c.170G>A, NM_005714.1:c.170G>A, NM_033455.2:c.170G>A, NM_033455.1:c.170G>A, NM_033348.2:c.170G>A, NM_033348.1:c.170G>A, NM_033347.2:c.170G>A, NM_033347.1:c.170G>A, NM_033456.1:c.170G>A, NP_005705.1:p.Cys57Tyr, NP_258416.1:p.Cys57Tyr, NP_203134.1:p.Cys57Tyr, NP_203133.1:p.Cys57Tyr

Select item 14797618596.

rs1479761859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65595637 (GRCh38)
11:65363108 (GRCh37)
Canonical SPDI:: NC_000011.10:65595636:C:T
Gene:: KCNK7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.65595637C>T, NC_000011.9:g.65363108C>T, NM_005714.2:c.136G>A, NM_005714.1:c.136G>A, NM_033455.2:c.136G>A, NM_033455.1:c.136G>A, NM_033348.2:c.136G>A, NM_033348.1:c.136G>A, NM_033347.2:c.136G>A, NM_033347.1:c.136G>A, NM_033456.1:c.136G>A, NP_005705.1:p.Glu46Lys, NP_258416.1:p.Glu46Lys, NP_203134.1:p.Glu46Lys, NP_203133.1:p.Glu46Lys

Select item 14757034837.

rs1475703483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65595756 (GRCh38)
11:65363227 (GRCh37)
Canonical SPDI:: NC_000011.10:65595755:G:A
Gene:: KCNK7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65595756G>A, NC_000011.9:g.65363227G>A, NM_005714.2:c.17C>T, NM_005714.1:c.17C>T, NM_033455.2:c.17C>T, NM_033455.1:c.17C>T, NM_033348.2:c.17C>T, NM_033348.1:c.17C>T, NM_033347.2:c.17C>T, NM_033347.1:c.17C>T, NM_033456.1:c.17C>T, NP_005705.1:p.Pro6Leu, NP_258416.1:p.Pro6Leu, NP_203134.1:p.Pro6Leu, NP_203133.1:p.Pro6Leu

Select item 14722754148.

rs1472275414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65595635 (GRCh38)
11:65363106 (GRCh37)
Canonical SPDI:: NC_000011.10:65595634:C:G
Gene:: KCNK7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000009/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.65595635C>G, NC_000011.9:g.65363106C>G, NM_005714.2:c.138G>C, NM_005714.1:c.138G>C, NM_033455.2:c.138G>C, NM_033455.1:c.138G>C, NM_033348.2:c.138G>C, NM_033348.1:c.138G>C, NM_033347.2:c.138G>C, NM_033347.1:c.138G>C, NM_033456.1:c.138G>C, NP_005705.1:p.Glu46Asp, NP_258416.1:p.Glu46Asp, NP_203134.1:p.Glu46Asp, NP_203133.1:p.Glu46Asp

Select item 14710682829.

rs1471068282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65593085 (GRCh38)
11:65360556 (GRCh37)
Canonical SPDI:: NC_000011.10:65593084:C:T
Gene:: KCNK7 (Varview), EHBP1L1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65593085C>T, NC_000011.9:g.65360556C>T, NM_005714.2:c.*335G>A, NM_005714.1:c.*335G>A, NM_033455.2:c.*258G>A, NM_033455.1:c.*258G>A, NM_033348.2:c.*159G>A, NM_033348.1:c.*159G>A, NM_033347.2:c.844G>A, NM_033347.1:c.844G>A, NM_033456.1:c.*236G>A, NP_203133.1:p.Gly282Ser

Select item 146999560510.

rs1469995605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65593677 (GRCh38)
11:65361148 (GRCh37)
Canonical SPDI:: NC_000011.10:65593676:C:T
Gene:: KCNK7 (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_000011.10:g.65593677C>T, NC_000011.9:g.65361148C>T, NM_005714.2:c.517G>A, NM_005714.1:c.517G>A, NM_033455.2:c.517G>A, NM_033455.1:c.517G>A, NM_033348.2:c.517G>A, NM_033348.1:c.517G>A, NM_033347.2:c.517G>A, NM_033347.1:c.517G>A, NM_033456.1:c.517G>A, NP_005705.1:p.Ala173Thr, NP_258416.1:p.Ala173Thr, NP_203134.1:p.Ala173Thr, NP_203133.1:p.Ala173Thr

Select item 146991867411.

rs1469918674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65593046 (GRCh38)
11:65360517 (GRCh37)
Canonical SPDI:: NC_000011.10:65593045:G:A
Gene:: KCNK7 (Varview), EHBP1L1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65593046G>A, NC_000011.9:g.65360517G>A, NM_005714.2:c.*374C>T, NM_005714.1:c.*374C>T, NM_033455.2:c.*297C>T, NM_033455.1:c.*297C>T, NM_033348.2:c.*198C>T, NM_033348.1:c.*198C>T, NM_033347.2:c.883C>T, NM_033347.1:c.883C>T, NM_033456.1:c.*275C>T, NP_203133.1:p.Pro295Ser

Select item 146991470512.

rs1469914705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:65593854 (GRCh38)
11:65361325 (GRCh37)
Canonical SPDI:: NC_000011.10:65593853:G:T
Gene:: KCNK7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.65593854G>T, NC_000011.9:g.65361325G>T, NM_005714.2:c.340C>A, NM_005714.1:c.340C>A, NM_033455.2:c.340C>A, NM_033455.1:c.340C>A, NM_033348.2:c.340C>A, NM_033348.1:c.340C>A, NM_033347.2:c.340C>A, NM_033347.1:c.340C>A, NM_033456.1:c.340C>A, NP_005705.1:p.Leu114Ile, NP_258416.1:p.Leu114Ile, NP_203134.1:p.Leu114Ile, NP_203133.1:p.Leu114Ile

Select item 146834004013.

rs1468340040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:65593634 (GRCh38)
11:65361105 (GRCh37)
Canonical SPDI:: NC_000011.10:65593633:G:A,NC_000011.10:65593633:G:C
Gene:: KCNK7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.65593634G>A, NC_000011.10:g.65593634G>C, NC_000011.9:g.65361105G>A, NC_000011.9:g.65361105G>C, NM_005714.2:c.560C>T, NM_005714.2:c.560C>G, NM_005714.1:c.560C>T, NM_005714.1:c.560C>G, NM_033455.2:c.560C>T, NM_033455.2:c.560C>G, NM_033455.1:c.560C>T, NM_033455.1:c.560C>G, NM_033348.2:c.560C>T, NM_033348.2:c.560C>G, NM_033348.1:c.560C>T, NM_033348.1:c.560C>G, NM_033347.2:c.560C>T, NM_033347.2:c.560C>G, NM_033347.1:c.560C>T, NM_033347.1:c.560C>G, NM_033456.1:c.560C>T, NM_033456.1:c.560C>G, NP_005705.1:p.Ala187Val, NP_005705.1:p.Ala187Gly, NP_258416.1:p.Ala187Val, NP_258416.1:p.Ala187Gly, NP_203134.1:p.Ala187Val, NP_203134.1:p.Ala187Gly, NP_203133.1:p.Ala187Val, NP_203133.1:p.Ala187Gly

Select item 146730246614.

rs1467302466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65593078 (GRCh38)
11:65360549 (GRCh37)
Canonical SPDI:: NC_000011.10:65593077:A:G
Gene:: KCNK7 (Varview), EHBP1L1 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65593078A>G, NC_000011.9:g.65360549A>G, NM_005714.2:c.*342T>C, NM_005714.1:c.*342T>C, NM_033455.2:c.*265T>C, NM_033455.1:c.*265T>C, NM_033348.2:c.*166T>C, NM_033348.1:c.*166T>C, NM_033347.2:c.851T>C, NM_033347.1:c.851T>C, NM_033456.1:c.*243T>C, NP_203133.1:p.Leu284Pro

Select item 146231857415.

rs1462318574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:65593618 (GRCh38)
11:65361089 (GRCh37)
Canonical SPDI:: NC_000011.10:65593617:G:A,NC_000011.10:65593617:G:T
Gene:: KCNK7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65593618G>A, NC_000011.10:g.65593618G>T, NC_000011.9:g.65361089G>A, NC_000011.9:g.65361089G>T, NM_005714.2:c.576C>T, NM_005714.2:c.576C>A, NM_005714.1:c.576C>T, NM_005714.1:c.576C>A, NM_033455.2:c.576C>T, NM_033455.2:c.576C>A, NM_033455.1:c.576C>T, NM_033455.1:c.576C>A, NM_033348.2:c.576C>T, NM_033348.2:c.576C>A, NM_033348.1:c.576C>T, NM_033348.1:c.576C>A, NM_033347.2:c.576C>T, NM_033347.2:c.576C>A, NM_033347.1:c.576C>T, NM_033347.1:c.576C>A, NM_033456.1:c.576C>T, NM_033456.1:c.576C>A

Select item 146092213516.

rs1460922135 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65593480 (GRCh38)
11:65360951 (GRCh37)
Canonical SPDI:: NC_000011.10:65593479:A:G
Gene:: KCNK7 (Varview)
Functional Consequence:: synonymous_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_000011.10:g.65593480A>G, NC_000011.9:g.65360951A>G, NM_005714.2:c.714T>C, NM_005714.1:c.714T>C, NM_033455.2:c.714T>C, NM_033455.1:c.714T>C, NM_033348.2:c.714T>C, NM_033348.1:c.714T>C, NM_033347.2:c.714T>C, NM_033347.1:c.714T>C, NM_033456.1:c.714T>C

Select item 145488368017.

rs1454883680 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65593180 (GRCh38)
11:65360651 (GRCh37)
Canonical SPDI:: NC_000011.10:65593179:A:G
Gene:: KCNK7 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65593180A>G, NC_000011.9:g.65360651A>G, NM_005714.2:c.*240T>C, NM_005714.1:c.*240T>C, NM_033455.2:c.*163T>C, NM_033455.1:c.*163T>C, NM_033348.2:c.*64T>C, NM_033348.1:c.*64T>C, NM_033347.2:c.749T>C, NM_033347.1:c.749T>C, NM_033456.1:c.*141T>C, NP_203133.1:p.Leu250Pro

Select item 145433327718.

rs1454333277 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65595525 (GRCh38)
11:65362996 (GRCh37)
Canonical SPDI:: NC_000011.10:65595524:T:C
Gene:: KCNK7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65595525T>C, NC_000011.9:g.65362996T>C, NM_005714.2:c.248A>G, NM_005714.1:c.248A>G, NM_033455.2:c.248A>G, NM_033455.1:c.248A>G, NM_033348.2:c.248A>G, NM_033348.1:c.248A>G, NM_033347.2:c.248A>G, NM_033347.1:c.248A>G, NM_033456.1:c.248A>G, NP_005705.1:p.Asn83Ser, NP_258416.1:p.Asn83Ser, NP_203134.1:p.Asn83Ser, NP_203133.1:p.Asn83Ser

Select item 145182367119.

rs1451823671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65595709 (GRCh38)
11:65363180 (GRCh37)
Canonical SPDI:: NC_000011.10:65595708:C:T
Gene:: KCNK7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65595709C>T, NC_000011.9:g.65363180C>T, NM_005714.2:c.64G>A, NM_005714.1:c.64G>A, NM_033455.2:c.64G>A, NM_033455.1:c.64G>A, NM_033348.2:c.64G>A, NM_033348.1:c.64G>A, NM_033347.2:c.64G>A, NM_033347.1:c.64G>A, NM_033456.1:c.64G>A, NP_005705.1:p.Gly22Arg, NP_258416.1:p.Gly22Arg, NP_203134.1:p.Gly22Arg, NP_203133.1:p.Gly22Arg

Select item 145158125120.

rs1451581251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65593552 (GRCh38)
11:65361023 (GRCh37)
Canonical SPDI:: NC_000011.10:65593551:G:A
Gene:: KCNK7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65593552G>A, NC_000011.9:g.65361023G>A, NM_005714.2:c.642C>T, NM_005714.1:c.642C>T, NM_033455.2:c.642C>T, NM_033455.1:c.642C>T, NM_033348.2:c.642C>T, NM_033348.1:c.642C>T, NM_033347.2:c.642C>T, NM_033347.1:c.642C>T, NM_033456.1:c.642C>T

<< First< Prev

Page of 20

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 387

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity