SNP Links for Protein (Select 4505693) - SNP

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Links from Protein

Items: 1 to 20 of 448

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Select item 14907506391.

rs1490750639 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:95585744 (GRCh38)
7:95215056 (GRCh37)
Canonical SPDI:: NC_000007.14:95585743:A:G
Gene:: PDK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.95585744A>G, NC_000007.13:g.95215056A>G, NG_047008.1:g.15870T>C, NM_002612.4:c.1133T>C, NM_002612.3:c.1133T>C, NP_002603.1:p.Phe378Ser

Select item 14896895302.

rs1489689530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:95587779 (GRCh38)
7:95217091 (GRCh37)
Canonical SPDI:: NC_000007.14:95587778:A:G
Gene:: PDK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.95587779A>G, NC_000007.13:g.95217091A>G, NG_047008.1:g.13835T>C, NM_002612.4:c.818T>C, NM_002612.3:c.818T>C, NP_002603.1:p.Leu273Pro

Select item 14869887633.

rs1486988763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:95585726 (GRCh38)
7:95215038 (GRCh37)
Canonical SPDI:: NC_000007.14:95585725:T:C
Gene:: PDK4 (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_000007.14:g.95585726T>C, NC_000007.13:g.95215038T>C, NG_047008.1:g.15888A>G, NM_002612.4:c.1151A>G, NM_002612.3:c.1151A>G, NP_002603.1:p.Lys384Arg

Select item 14852767844.

rs1485276784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:95585681 (GRCh38)
7:95214993 (GRCh37)
Canonical SPDI:: NC_000007.14:95585680:C:A
Gene:: PDK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.95585681C>A, NC_000007.13:g.95214993C>A, NG_047008.1:g.15933G>T, NM_002612.4:c.1196G>T, NM_002612.3:c.1196G>T, NP_002603.1:p.Ser399Ile

Select item 14789172145.

rs1478917214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:95587497 (GRCh38)
7:95216809 (GRCh37)
Canonical SPDI:: NC_000007.14:95587496:C:A
Gene:: PDK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.95587497C>A, NC_000007.13:g.95216809C>A, NG_047008.1:g.14117G>T, NM_002612.4:c.902G>T, NM_002612.3:c.902G>T, NP_002603.1:p.Arg301Ile

Select item 14770170276.

rs1477017027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:95595164 (GRCh38)
7:95224476 (GRCh37)
Canonical SPDI:: NC_000007.14:95595163:C:A,NC_000007.14:95595163:C:T
Gene:: PDK4 (Varview), PDK4-AS1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_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_000007.14:g.95595164C>A, NC_000007.14:g.95595164C>T, NC_000007.13:g.95224476C>A, NC_000007.13:g.95224476C>T, NG_047008.1:g.6450G>T, NG_047008.1:g.6450G>A, NM_002612.4:c.131G>T, NM_002612.4:c.131G>A, NM_002612.3:c.131G>T, NM_002612.3:c.131G>A, NP_002603.1:p.Gly44Val, NP_002603.1:p.Gly44Asp

Select item 14767551567.

rs1476755156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:95589698 (GRCh38)
7:95219010 (GRCh37)
Canonical SPDI:: NC_000007.14:95589697:G:T
Gene:: PDK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.95589698G>T, NC_000007.13:g.95219010G>T, NG_047008.1:g.11916C>A, NM_002612.4:c.713C>A, NM_002612.3:c.713C>A, NP_002603.1:p.Pro238Gln

Select item 14745865128.

rs1474586512 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:95587736 (GRCh38)
7:95217048 (GRCh37)
Canonical SPDI:: NC_000007.14:95587735:AA:A
Gene:: PDK4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.95587737del, NC_000007.13:g.95217049del, NG_047008.1:g.13878del, NM_002612.4:c.861del, NM_002612.3:c.861del, NP_002603.1:p.Thr288fs

Select item 14737978559.

rs1473797855 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:95592025 (GRCh38)
7:95221337 (GRCh37)
Canonical SPDI:: NC_000007.14:95592024:A:G
Gene:: PDK4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000007.14:g.95592025A>G, NC_000007.13:g.95221337A>G, NG_047008.1:g.9589T>C, NM_002612.4:c.657T>C, NM_002612.3:c.657T>C

Select item 147227995910.

rs1472279959 [Homo sapiens]

Variant type:: INS
Alleles:: ->GG [Show Flanks]
Chromosome:: 7:95592772 (GRCh38)
7:95222085 (GRCh37)
Canonical SPDI:: NC_000007.14:95592772::GG
Gene:: PDK4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: GG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.95592772_95592773insGG, NC_000007.13:g.95222084_95222085insGG, NG_047008.1:g.8841_8842insCC, NM_002612.4:c.516_517insCC, NM_002612.3:c.516_517insCC, NP_002603.1:p.Met173fs

Select item 147198143011.

rs1471981430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:95596219 (GRCh38)
7:95225531 (GRCh37)
Canonical SPDI:: NC_000007.14:95596218:C:T
Gene:: PDK4 (Varview), PDK4-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.95596219C>T, NC_000007.13:g.95225531C>T, NG_047008.1:g.5395G>A, NM_002612.4:c.75G>A, NM_002612.3:c.75G>A

Select item 146731541112.

rs1467315411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:95587488 (GRCh38)
7:95216800 (GRCh37)
Canonical SPDI:: NC_000007.14:95587487:T:G
Gene:: PDK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.95587488T>G, NC_000007.13:g.95216800T>G, NG_047008.1:g.14126A>C, NM_002612.4:c.911A>C, NM_002612.3:c.911A>C, NP_002603.1:p.Asp304Ala

Select item 146231499113.

rs1462314991 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:95592873 (GRCh38)
7:95222185 (GRCh37)
Canonical SPDI:: NC_000007.14:95592871:TAT:T
Gene:: PDK4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.95592873_95592874del, NC_000007.13:g.95222185_95222186del, NG_047008.1:g.8741_8742del, NM_002612.4:c.416_417del, NM_002612.3:c.416_417del, NP_002603.1:p.Ile139fs

Select item 145618544614.

rs1456185446 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:95592902 (GRCh38)
7:95222214 (GRCh37)
Canonical SPDI:: NC_000007.14:95592901:A:C
Gene:: PDK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.95592902A>C, NC_000007.13:g.95222214A>C, NG_047008.1:g.8712T>G, NM_002612.4:c.387T>G, NM_002612.3:c.387T>G, NP_002603.1:p.Asn129Lys

Select item 145431987615.

rs1454319876 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:95596266 (GRCh38)
7:95225578 (GRCh37)
Canonical SPDI:: NC_000007.14:95596265:T:C
Gene:: PDK4 (Varview), PDK4-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000007.14:g.95596266T>C, NC_000007.13:g.95225578T>C, NG_047008.1:g.5348A>G, NM_002612.4:c.28A>G, NM_002612.3:c.28A>G, NP_002603.1:p.Ser10Gly

Select item 145377204516.

rs1453772045 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:95595037 (GRCh38)
7:95224349 (GRCh37)
Canonical SPDI:: NC_000007.14:95595036:T:C
Gene:: PDK4 (Varview), PDK4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_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_000007.14:g.95595037T>C, NC_000007.13:g.95224349T>C, NG_047008.1:g.6577A>G, NM_002612.4:c.258A>G, NM_002612.3:c.258A>G

Select item 145013384217.

rs1450133842 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:95596290 (GRCh38)
7:95225602 (GRCh37)
Canonical SPDI:: NC_000007.14:95596289:T:G
Gene:: PDK4 (Varview), PDK4-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_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_000007.14:g.95596290T>G, NC_000007.13:g.95225602T>G, NG_047008.1:g.5324A>C, NM_002612.4:c.4A>C, NM_002612.3:c.4A>C, NP_002603.1:p.Lys2Gln

Select item 144863017418.

rs1448630174 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:95596192 (GRCh38)
7:95225505 (GRCh37)
Canonical SPDI:: NC_000007.14:95596192:GGGG:GGGGG
Gene:: PDK4 (Varview), PDK4-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.95596196dup, NC_000007.13:g.95225508dup, NG_047008.1:g.5421dup, NM_002612.4:c.101dup, NM_002612.3:c.101dup, NP_002603.1:p.Leu35fs

Select item 144709637419.

rs1447096374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:95592534 (GRCh38)
7:95221846 (GRCh37)
Canonical SPDI:: NC_000007.14:95592533:C:A
Gene:: PDK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.95592534C>A, NC_000007.13:g.95221846C>A, NG_047008.1:g.9080G>T, NM_002612.4:c.593G>T, NM_002612.3:c.593G>T, NP_002603.1:p.Cys198Phe

Select item 144695223820.

rs1446952238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:95596232 (GRCh38)
7:95225544 (GRCh37)
Canonical SPDI:: NC_000007.14:95596231:G:T
Gene:: PDK4 (Varview), PDK4-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.95596232G>T, NC_000007.13:g.95225544G>T, NG_047008.1:g.5382C>A, NM_002612.4:c.62C>A, NM_002612.3:c.62C>A, NP_002603.1:p.Pro21His

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