SNP Links for Protein (Select 343780874) - SNP

Links from Protein

Items: 1 to 20 of 196

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Select item 14701208711.

rs1470120871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:26122391 (GRCh38)
1:26448882 (GRCh37)
Canonical SPDI:: NC_000001.11:26122390:G:A
Gene:: PDIK1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.26122391G>A, NC_000001.10:g.26448882G>A, NM_152835.5:c.840G>A, NM_152835.4:c.840G>A, NM_001243533.2:c.840G>A, NM_001243533.1:c.840G>A, NM_001243532.2:c.840G>A, NM_001243532.1:c.840G>A, NR_026686.1:n.1187G>A, NR_026685.1:n.1113G>A

Select item 14638384342.

rs1463838434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:26122454 (GRCh38)
1:26448945 (GRCh37)
Canonical SPDI:: NC_000001.11:26122453:T:C
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.26122454T>C, NC_000001.10:g.26448945T>C, NM_152835.5:c.903T>C, NM_152835.4:c.903T>C, NM_001243533.2:c.903T>C, NM_001243533.1:c.903T>C, NM_001243532.2:c.903T>C, NM_001243532.1:c.903T>C, NR_026686.1:n.1250T>C, NR_026685.1:n.1176T>C

Select item 14617419033.

rs1461741903 [Homo sapiens]

Variant type:: SNV:
Alleles:: >
Chromosome:: no mapping
Canonical SPDI:

Select item 14586529364.

rs1458652936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:26122404 (GRCh38)
1:26448895 (GRCh37)
Canonical SPDI:: NC_000001.11:26122403:G:C
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.26122404G>C, NC_000001.10:g.26448895G>C, NM_152835.5:c.853G>C, NM_152835.4:c.853G>C, NM_001243533.2:c.853G>C, NM_001243533.1:c.853G>C, NM_001243532.2:c.853G>C, NM_001243532.1:c.853G>C, NR_026686.1:n.1200G>C, NR_026685.1:n.1126G>C, NP_690048.1:p.Glu285Gln, NP_001230462.1:p.Glu285Gln, NP_001230461.1:p.Glu285Gln

Select item 14586444755.

rs1458644475 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:26114533 (GRCh38)
1:26441024 (GRCh37)
Canonical SPDI:: NC_000001.11:26114532:A:G
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_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_000001.11:g.26114533A>G, NC_000001.10:g.26441024A>G, NM_152835.5:c.225A>G, NM_152835.4:c.225A>G, NM_001243533.2:c.225A>G, NM_001243533.1:c.225A>G, NM_001243532.2:c.225A>G, NM_001243532.1:c.225A>G, NR_026686.1:n.572A>G, NR_026685.1:n.498A>G

Select item 14571660876.

rs1457166087 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:26114583 (GRCh38)
1:26441074 (GRCh37)
Canonical SPDI:: NC_000001.11:26114582:T:C
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000094/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.26114583T>C, NC_000001.10:g.26441074T>C, NM_152835.5:c.275T>C, NM_152835.4:c.275T>C, NM_001243533.2:c.275T>C, NM_001243533.1:c.275T>C, NM_001243532.2:c.275T>C, NM_001243532.1:c.275T>C, NR_026686.1:n.622T>C, NR_026685.1:n.548T>C, NP_690048.1:p.Leu92Pro, NP_001230462.1:p.Leu92Pro, NP_001230461.1:p.Leu92Pro

Select item 14571643987.

rs1457164398 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:26122222 (GRCh38)
1:26448713 (GRCh37)
Canonical SPDI:: NC_000001.11:26122221:A:C
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.26122222A>C, NC_000001.10:g.26448713A>C, NM_152835.5:c.671A>C, NM_152835.4:c.671A>C, NM_001243533.2:c.671A>C, NM_001243533.1:c.671A>C, NM_001243532.2:c.671A>C, NM_001243532.1:c.671A>C, NR_026686.1:n.1018A>C, NR_026685.1:n.944A>C, NP_690048.1:p.Tyr224Ser, NP_001230462.1:p.Tyr224Ser, NP_001230461.1:p.Tyr224Ser

Select item 14562266698.

rs1456226669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:26114571 (GRCh38)
1:26441062 (GRCh37)
Canonical SPDI:: NC_000001.11:26114570:C:G
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.26114571C>G, NC_000001.10:g.26441062C>G, NM_152835.5:c.263C>G, NM_152835.4:c.263C>G, NM_001243533.2:c.263C>G, NM_001243533.1:c.263C>G, NM_001243532.2:c.263C>G, NM_001243532.1:c.263C>G, NR_026686.1:n.610C>G, NR_026685.1:n.536C>G, NP_690048.1:p.Ser88Cys, NP_001230462.1:p.Ser88Cys, NP_001230461.1:p.Ser88Cys

Select item 14518616309.

rs1451861630 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:26114433 (GRCh38)
1:26440924 (GRCh37)
Canonical SPDI:: NC_000001.11:26114432:A:C
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.26114433A>C, NC_000001.10:g.26440924A>C, NM_152835.5:c.125A>C, NM_152835.4:c.125A>C, NM_001243533.2:c.125A>C, NM_001243533.1:c.125A>C, NM_001243532.2:c.125A>C, NM_001243532.1:c.125A>C, NR_026686.1:n.472A>C, NR_026685.1:n.398A>C, NP_690048.1:p.His42Pro, NP_001230462.1:p.His42Pro, NP_001230461.1:p.His42Pro

Select item 144963199710.

rs1449631997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:26121945 (GRCh38)
1:26448436 (GRCh37)
Canonical SPDI:: NC_000001.11:26121944:T:C
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.26121945T>C, NC_000001.10:g.26448436T>C, NM_152835.5:c.394T>C, NM_152835.4:c.394T>C, NM_001243533.2:c.394T>C, NM_001243533.1:c.394T>C, NM_001243532.2:c.394T>C, NM_001243532.1:c.394T>C, NR_026686.1:n.741T>C, NR_026685.1:n.667T>C

Select item 144591220211.

rs1445912202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:26114416 (GRCh38)
1:26440907 (GRCh37)
Canonical SPDI:: NC_000001.11:26114415:G:A
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.26114416G>A, NC_000001.10:g.26440907G>A, NM_152835.5:c.108G>A, NM_152835.4:c.108G>A, NM_001243533.2:c.108G>A, NM_001243533.1:c.108G>A, NM_001243532.2:c.108G>A, NM_001243532.1:c.108G>A, NR_026686.1:n.455G>A, NR_026685.1:n.381G>A

Select item 144441926812.

rs1444419268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:26122341 (GRCh38)
1:26448832 (GRCh37)
Canonical SPDI:: NC_000001.11:26122340:G:A
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.26122341G>A, NC_000001.10:g.26448832G>A, NM_152835.5:c.790G>A, NM_152835.4:c.790G>A, NM_001243533.2:c.790G>A, NM_001243533.1:c.790G>A, NM_001243532.2:c.790G>A, NM_001243532.1:c.790G>A, NR_026686.1:n.1137G>A, NR_026685.1:n.1063G>A, NP_690048.1:p.Glu264Lys, NP_001230462.1:p.Glu264Lys, NP_001230461.1:p.Glu264Lys

Select item 144430536613.

rs1444305366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:26122459 (GRCh38)
1:26448950 (GRCh37)
Canonical SPDI:: NC_000001.11:26122458:G:A,NC_000001.11:26122458:G:T
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.26122459G>A, NC_000001.11:g.26122459G>T, NC_000001.10:g.26448950G>A, NC_000001.10:g.26448950G>T, NM_152835.5:c.908G>A, NM_152835.5:c.908G>T, NM_152835.4:c.908G>A, NM_152835.4:c.908G>T, NM_001243533.2:c.908G>A, NM_001243533.2:c.908G>T, NM_001243533.1:c.908G>A, NM_001243533.1:c.908G>T, NM_001243532.2:c.908G>A, NM_001243532.2:c.908G>T, NM_001243532.1:c.908G>A, NM_001243532.1:c.908G>T, NR_026686.1:n.1255G>A, NR_026686.1:n.1255G>T, NR_026685.1:n.1181G>A, NR_026685.1:n.1181G>T, NP_690048.1:p.Arg303Gln, NP_690048.1:p.Arg303Leu, NP_001230462.1:p.Arg303Gln, NP_001230462.1:p.Arg303Leu, NP_001230461.1:p.Arg303Gln, NP_001230461.1:p.Arg303Leu

Select item 144043632714.

rs1440436327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:26114342 (GRCh38)
1:26440833 (GRCh37)
Canonical SPDI:: NC_000001.11:26114341:C:T
Gene:: PDIK1L (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)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.26114342C>T, NC_000001.10:g.26440833C>T, NM_152835.5:c.34C>T, NM_152835.4:c.34C>T, NM_001243533.2:c.34C>T, NM_001243533.1:c.34C>T, NM_001243532.2:c.34C>T, NM_001243532.1:c.34C>T, NR_026686.1:n.381C>T, NR_026685.1:n.307C>T, NP_690048.1:p.Arg12Trp, NP_001230462.1:p.Arg12Trp, NP_001230461.1:p.Arg12Trp

Select item 143896386015.

rs1438963860 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:26114446 (GRCh38)
1:26440937 (GRCh37)
Canonical SPDI:: NC_000001.11:26114445:T:C
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.26114446T>C, NC_000001.10:g.26440937T>C, NM_152835.5:c.138T>C, NM_152835.4:c.138T>C, NM_001243533.2:c.138T>C, NM_001243533.1:c.138T>C, NM_001243532.2:c.138T>C, NM_001243532.1:c.138T>C, NR_026686.1:n.485T>C, NR_026685.1:n.411T>C

Select item 143880934316.

rs1438809343 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:26121929 (GRCh38)
1:26448420 (GRCh37)
Canonical SPDI:: NC_000001.11:26121928:T:C
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000001.11:g.26121929T>C, NC_000001.10:g.26448420T>C, NM_152835.5:c.378T>C, NM_152835.4:c.378T>C, NM_001243533.2:c.378T>C, NM_001243533.1:c.378T>C, NM_001243532.2:c.378T>C, NM_001243532.1:c.378T>C, NR_026686.1:n.725T>C, NR_026685.1:n.651T>C

Select item 143718302717.

rs1437183027 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:26122111 (GRCh38)
1:26448602 (GRCh37)
Canonical SPDI:: NC_000001.11:26122110:A:G
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.26122111A>G, NC_000001.10:g.26448602A>G, NM_152835.5:c.560A>G, NM_152835.4:c.560A>G, NM_001243533.2:c.560A>G, NM_001243533.1:c.560A>G, NM_001243532.2:c.560A>G, NM_001243532.1:c.560A>G, NR_026686.1:n.907A>G, NR_026685.1:n.833A>G, NP_690048.1:p.Lys187Arg, NP_001230462.1:p.Lys187Arg, NP_001230461.1:p.Lys187Arg

Select item 143164386118.

rs1431643861 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:26121888 (GRCh38)
1:26448379 (GRCh37)
Canonical SPDI:: NC_000001.11:26121887:T:C
Gene:: PDIK1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.26121888T>C, NC_000001.10:g.26448379T>C, NM_152835.5:c.337T>C, NM_152835.4:c.337T>C, NM_001243533.2:c.337T>C, NM_001243533.1:c.337T>C, NM_001243532.2:c.337T>C, NM_001243532.1:c.337T>C, NR_026686.1:n.684T>C, NR_026685.1:n.610T>C, NP_690048.1:p.Tyr113His, NP_001230462.1:p.Tyr113His, NP_001230461.1:p.Tyr113His

Select item 142168452319.

rs1421684523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:26114384 (GRCh38)
1:26440875 (GRCh37)
Canonical SPDI:: NC_000001.11:26114383:G:A
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.00003/8 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000001.11:g.26114384G>A, NC_000001.10:g.26440875G>A, NM_152835.5:c.76G>A, NM_152835.4:c.76G>A, NM_001243533.2:c.76G>A, NM_001243533.1:c.76G>A, NM_001243532.2:c.76G>A, NM_001243532.1:c.76G>A, NR_026686.1:n.423G>A, NR_026685.1:n.349G>A, NP_690048.1:p.Val26Ile, NP_001230462.1:p.Val26Ile, NP_001230461.1:p.Val26Ile

Select item 140361546320.

rs1403615463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:26121920 (GRCh38)
1:26448411 (GRCh37)
Canonical SPDI:: NC_000001.11:26121919:C:T
Gene:: PDIK1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.26121920C>T, NC_000001.10:g.26448411C>T, NM_152835.5:c.369C>T, NM_152835.4:c.369C>T, NM_001243533.2:c.369C>T, NM_001243533.1:c.369C>T, NM_001243532.2:c.369C>T, NM_001243532.1:c.369C>T, NR_026686.1:n.716C>T, NR_026685.1:n.642C>T

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