SNP Links for Protein (Select 20143944) - SNP

Links from Protein

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Select item 14844209541.

rs1484420954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:88227441 (GRCh38)
14:88693785 (GRCh37)
Canonical SPDI:: NC_000014.9:88227440:A:G
Gene:: KCNK10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000014.9:g.88227441A>G, NC_000014.8:g.88693785A>G, NM_021161.5:c.600T>C, NM_021161.4:c.600T>C, NM_138317.3:c.615T>C, NM_138317.2:c.615T>C, NM_138318.3:c.615T>C, NM_138318.2:c.615T>C, XM_011536840.2:c.216T>C, XM_011536840.1:c.216T>C, XM_024449628.1:c.438T>C

Select item 14841959992.

rs1484195999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:88192289 (GRCh38)
14:88658633 (GRCh37)
Canonical SPDI:: NC_000014.9:88192288:G:T
Gene:: KCNK10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.88192289G>T, NC_000014.8:g.88658633G>T, NM_021161.5:c.788C>A, NM_021161.4:c.788C>A, NM_138317.3:c.803C>A, NM_138317.2:c.803C>A, NM_138318.3:c.803C>A, NM_138318.2:c.803C>A, XM_011536840.2:c.404C>A, XM_011536840.1:c.404C>A, XM_024449628.1:c.626C>A, NP_066984.1:p.Ala263Asp, NP_612190.1:p.Ala268Asp, NP_612191.1:p.Ala268Asp, XP_011535142.1:p.Ala135Asp, XP_024305396.1:p.Ala209Asp

Select item 14801224443.

rs1480122444 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:88192233 (GRCh38)
14:88658577 (GRCh37)
Canonical SPDI:: NC_000014.9:88192232:A:G
Gene:: KCNK10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.88192233A>G, NC_000014.8:g.88658577A>G, NM_021161.5:c.844T>C, NM_021161.4:c.844T>C, NM_138317.3:c.859T>C, NM_138317.2:c.859T>C, NM_138318.3:c.859T>C, NM_138318.2:c.859T>C, XM_011536840.2:c.460T>C, XM_011536840.1:c.460T>C, XM_024449628.1:c.682T>C, NP_066984.1:p.Phe282Leu, NP_612190.1:p.Phe287Leu, NP_612191.1:p.Phe287Leu, XP_011535142.1:p.Phe154Leu, XP_024305396.1:p.Phe228Leu

Select item 14779388214.

rs1477938821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:88322757 (GRCh38)
14:88789101 (GRCh37)
Canonical SPDI:: NC_000014.9:88322756:C:G
Gene:: KCNK10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.88322757C>G, NC_000014.8:g.88789101C>G, NM_138317.3:c.42G>C, NM_138317.2:c.42G>C, NP_612190.1:p.Trp14Cys

Select item 14776632455.

rs1477663245 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 14:88263374 (GRCh38)
14:88729718 (GRCh37)
Canonical SPDI:: NC_000014.9:88263373:A:C,NC_000014.9:88263373:A:G
Gene:: KCNK10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000033/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000342/1 (KOREAN)
C=0.001638/3 (Korea1K)
HGVS:: NC_000014.9:g.88263374A>C, NC_000014.9:g.88263374A>G, NC_000014.8:g.88729718A>C, NC_000014.8:g.88729718A>G, NM_021161.5:c.215T>G, NM_021161.5:c.215T>C, NM_021161.4:c.215T>G, NM_021161.4:c.215T>C, NM_138317.3:c.230T>G, NM_138317.3:c.230T>C, NM_138317.2:c.230T>G, NM_138317.2:c.230T>C, NM_138318.3:c.230T>G, NM_138318.3:c.230T>C, NM_138318.2:c.230T>G, NM_138318.2:c.230T>C, XM_024449628.1:c.53T>G, XM_024449628.1:c.53T>C, NP_066984.1:p.Val72Gly, NP_066984.1:p.Val72Ala, NP_612190.1:p.Val77Gly, NP_612190.1:p.Val77Ala, NP_612191.1:p.Val77Gly, NP_612191.1:p.Val77Ala, XP_024305396.1:p.Val18Gly, XP_024305396.1:p.Val18Ala

Select item 14727702646.

rs1472770264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:88185856 (GRCh38)
14:88652200 (GRCh37)
Canonical SPDI:: NC_000014.9:88185855:G:C
Gene:: KCNK10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.88185856G>C, NC_000014.8:g.88652200G>C, NM_021161.5:c.1296C>G, NM_021161.4:c.1296C>G, NM_138317.3:c.1311C>G, NM_138317.2:c.1311C>G, NM_138318.3:c.1311C>G, NM_138318.2:c.1311C>G, XM_011536840.2:c.912C>G, XM_011536840.1:c.912C>G, XM_024449628.1:c.1134C>G, NP_066984.1:p.Asn432Lys, NP_612190.1:p.Asn437Lys, NP_612191.1:p.Asn437Lys, XP_011535142.1:p.Asn304Lys, XP_024305396.1:p.Asn378Lys

Select item 14716226087.

rs1471622608 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:88240705 (GRCh38)
14:88707049 (GRCh37)
Canonical SPDI:: NC_000014.9:88240704:A:G
Gene:: KCNK10 (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.88240705A>G, NC_000014.8:g.88707049A>G, NM_021161.5:c.503T>C, NM_021161.4:c.503T>C, NM_138317.3:c.518T>C, NM_138317.2:c.518T>C, NM_138318.3:c.518T>C, NM_138318.2:c.518T>C, XM_011536840.2:c.119T>C, XM_011536840.1:c.119T>C, XM_024449628.1:c.341T>C, NP_066984.1:p.Ile168Thr, NP_612190.1:p.Ile173Thr, NP_612191.1:p.Ile173Thr, XP_011535142.1:p.Ile40Thr, XP_024305396.1:p.Ile114Thr

Select item 14713901108.

rs1471390110 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATAAAATACA>- [Show Flanks]
Chromosome:: 14:88227481 (GRCh38)
14:88693825 (GRCh37)
Canonical SPDI:: NC_000014.9:88227478:CATATAAAATACA:CA
Gene:: KCNK10 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.88227481_88227491del, NC_000014.8:g.88693825_88693835del, NM_021161.5:c.552_562del, NM_021161.4:c.552_562del, NM_138317.3:c.567_577del, NM_138317.2:c.567_577del, NM_138318.3:c.567_577del, NM_138318.2:c.567_577del, XM_011536840.2:c.168_178del, XM_011536840.1:c.168_178del, XM_024449628.1:c.390_400del, NP_066984.1:p.Ile185fs, NP_612190.1:p.Ile190fs, NP_612191.1:p.Ile190fs, XP_011535142.1:p.Ile57fs, XP_024305396.1:p.Ile131fs

Select item 14705553009.

rs1470555300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:88185906 (GRCh38)
14:88652250 (GRCh37)
Canonical SPDI:: NC_000014.9:88185905:T:C
Gene:: KCNK10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.88185906T>C, NC_000014.8:g.88652250T>C, NM_021161.5:c.1246A>G, NM_021161.4:c.1246A>G, NM_138317.3:c.1261A>G, NM_138317.2:c.1261A>G, NM_138318.3:c.1261A>G, NM_138318.2:c.1261A>G, XM_011536840.2:c.862A>G, XM_011536840.1:c.862A>G, XM_024449628.1:c.1084A>G, NP_066984.1:p.Ile416Val, NP_612190.1:p.Ile421Val, NP_612191.1:p.Ile421Val, XP_011535142.1:p.Ile288Val, XP_024305396.1:p.Ile362Val

Select item 146587046410.

rs1465870464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:88185713 (GRCh38)
14:88652057 (GRCh37)
Canonical SPDI:: NC_000014.9:88185712:G:A
Gene:: KCNK10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.88185713G>A, NC_000014.8:g.88652057G>A, NM_021161.5:c.1439C>T, NM_021161.4:c.1439C>T, NM_138317.3:c.1454C>T, NM_138317.2:c.1454C>T, NM_138318.3:c.1454C>T, NM_138318.2:c.1454C>T, XM_011536840.2:c.1055C>T, XM_011536840.1:c.1055C>T, XM_024449628.1:c.1277C>T, NP_066984.1:p.Ser480Phe, NP_612190.1:p.Ser485Phe, NP_612191.1:p.Ser485Phe, XP_011535142.1:p.Ser352Phe, XP_024305396.1:p.Ser426Phe

Select item 146535487611.

rs1465354876 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:88186041 (GRCh38)
14:88652385 (GRCh37)
Canonical SPDI:: NC_000014.9:88186040:T:C
Gene:: KCNK10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.88186041T>C, NC_000014.8:g.88652385T>C, NM_021161.5:c.1111A>G, NM_021161.4:c.1111A>G, NM_138317.3:c.1126A>G, NM_138317.2:c.1126A>G, NM_138318.3:c.1126A>G, NM_138318.2:c.1126A>G, XM_011536840.2:c.727A>G, XM_011536840.1:c.727A>G, XM_024449628.1:c.949A>G, NP_066984.1:p.Thr371Ala, NP_612190.1:p.Thr376Ala, NP_612191.1:p.Thr376Ala, XP_011535142.1:p.Thr243Ala, XP_024305396.1:p.Thr317Ala

Select item 146386421512.

rs1463864215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:88185601 (GRCh38)
14:88651945 (GRCh37)
Canonical SPDI:: NC_000014.9:88185600:T:A
Gene:: KCNK10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.88185601T>A, NC_000014.8:g.88651945T>A, NM_021161.5:c.1551A>T, NM_021161.4:c.1551A>T, NM_138317.3:c.1566A>T, NM_138317.2:c.1566A>T, NM_138318.3:c.1566A>T, NM_138318.2:c.1566A>T, XM_011536840.2:c.1167A>T, XM_011536840.1:c.1167A>T, XM_024449628.1:c.1389A>T

Select item 146301752913.

rs1463017529 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:88186025 (GRCh38)
14:88652369 (GRCh37)
Canonical SPDI:: NC_000014.9:88186024:T:C
Gene:: KCNK10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.88186025T>C, NC_000014.8:g.88652369T>C, NM_021161.5:c.1127A>G, NM_021161.4:c.1127A>G, NM_138317.3:c.1142A>G, NM_138317.2:c.1142A>G, NM_138318.3:c.1142A>G, NM_138318.2:c.1142A>G, XM_011536840.2:c.743A>G, XM_011536840.1:c.743A>G, XM_024449628.1:c.965A>G, NP_066984.1:p.Glu376Gly, NP_612190.1:p.Glu381Gly, NP_612191.1:p.Glu381Gly, XP_011535142.1:p.Glu248Gly, XP_024305396.1:p.Glu322Gly

Select item 146182988814.

rs1461829888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:88185543 (GRCh38)
14:88651887 (GRCh37)
Canonical SPDI:: NC_000014.9:88185542:T:C
Gene:: KCNK10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.88185543T>C, NC_000014.8:g.88651887T>C, NM_021161.5:c.1609A>G, NM_021161.4:c.1609A>G, NM_138317.3:c.1624A>G, NM_138317.2:c.1624A>G, NM_138318.3:c.1624A>G, NM_138318.2:c.1624A>G, XM_011536840.2:c.1225A>G, XM_011536840.1:c.1225A>G, XM_024449628.1:c.1447A>G, NP_066984.1:p.Arg537Gly, NP_612190.1:p.Arg542Gly, NP_612191.1:p.Arg542Gly, XP_011535142.1:p.Arg409Gly, XP_024305396.1:p.Arg483Gly

Select item 146116981615.

rs1461169816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:88227443 (GRCh38)
14:88693787 (GRCh37)
Canonical SPDI:: NC_000014.9:88227442:C:A
Gene:: KCNK10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.88227443C>A, NC_000014.8:g.88693787C>A, NM_021161.5:c.598G>T, NM_021161.4:c.598G>T, NM_138317.3:c.613G>T, NM_138317.2:c.613G>T, NM_138318.3:c.613G>T, NM_138318.2:c.613G>T, XM_011536840.2:c.214G>T, XM_011536840.1:c.214G>T, XM_024449628.1:c.436G>T, NP_066984.1:p.Ala200Ser, NP_612190.1:p.Ala205Ser, NP_612191.1:p.Ala205Ser, XP_011535142.1:p.Ala72Ser, XP_024305396.1:p.Ala146Ser

Select item 145955332316.

rs1459553323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:88185778 (GRCh38)
14:88652122 (GRCh37)
Canonical SPDI:: NC_000014.9:88185777:G:T
Gene:: KCNK10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.88185778G>T, NC_000014.8:g.88652122G>T, NM_021161.5:c.1374C>A, NM_021161.4:c.1374C>A, NM_138317.3:c.1389C>A, NM_138317.2:c.1389C>A, NM_138318.3:c.1389C>A, NM_138318.2:c.1389C>A, XM_011536840.2:c.990C>A, XM_011536840.1:c.990C>A, XM_024449628.1:c.1212C>A, NP_066984.1:p.Asn458Lys, NP_612190.1:p.Asn463Lys, NP_612191.1:p.Asn463Lys, XP_011535142.1:p.Asn330Lys, XP_024305396.1:p.Asn404Lys

Select item 145616424017.

rs1456164240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:88187994 (GRCh38)
14:88654338 (GRCh37)
Canonical SPDI:: NC_000014.9:88187993:C:T
Gene:: KCNK10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.88187994C>T, NC_000014.8:g.88654338C>T, NM_021161.5:c.969G>A, NM_021161.4:c.969G>A, NM_138317.3:c.984G>A, NM_138317.2:c.984G>A, NM_138318.3:c.984G>A, NM_138318.2:c.984G>A, XM_011536840.2:c.585G>A, XM_011536840.1:c.585G>A, XM_024449628.1:c.807G>A

Select item 145313491418.

rs1453134914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:88240739 (GRCh38)
14:88707083 (GRCh37)
Canonical SPDI:: NC_000014.9:88240738:C:T
Gene:: KCNK10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.88240739C>T, NC_000014.8:g.88707083C>T, NM_021161.5:c.469G>A, NM_021161.4:c.469G>A, NM_138317.3:c.484G>A, NM_138317.2:c.484G>A, NM_138318.3:c.484G>A, NM_138318.2:c.484G>A, XM_011536840.2:c.85G>A, XM_011536840.1:c.85G>A, XM_024449628.1:c.307G>A, NP_066984.1:p.Ala157Thr, NP_612190.1:p.Ala162Thr, NP_612191.1:p.Ala162Thr, XP_011535142.1:p.Ala29Thr, XP_024305396.1:p.Ala103Thr

Select item 145225876219.

rs1452258762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:88263294 (GRCh38)
14:88729638 (GRCh37)
Canonical SPDI:: NC_000014.9:88263293:T:C
Gene:: KCNK10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.88263294T>C, NC_000014.8:g.88729638T>C, NM_021161.5:c.295A>G, NM_021161.4:c.295A>G, NM_138317.3:c.310A>G, NM_138317.2:c.310A>G, NM_138318.3:c.310A>G, NM_138318.2:c.310A>G, XM_024449628.1:c.133A>G, NP_066984.1:p.Ser99Gly, NP_612190.1:p.Ser104Gly, NP_612191.1:p.Ser104Gly, XP_024305396.1:p.Ser45Gly

Select item 145184210220.

rs1451842102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:88186021 (GRCh38)
14:88652365 (GRCh37)
Canonical SPDI:: NC_000014.9:88186020:G:A
Gene:: KCNK10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.88186021G>A, NC_000014.8:g.88652365G>A, NM_021161.5:c.1131C>T, NM_021161.4:c.1131C>T, NM_138317.3:c.1146C>T, NM_138317.2:c.1146C>T, NM_138318.3:c.1146C>T, NM_138318.2:c.1146C>T, XM_011536840.2:c.747C>T, XM_011536840.1:c.747C>T, XM_024449628.1:c.969C>T

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