SNP Links for Protein (Select 37693995) - SNP

Links from Protein

Items: 1 to 20 of 319

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Select item 14909920131.

rs1490992013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:31327350 (GRCh38)
15:31619553 (GRCh37)
Canonical SPDI:: NC_000015.10:31327349:G:A
Gene:: KLF13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000015.10:g.31327350G>A, NC_000015.9:g.31619553G>A, NW_011332701.1:g.3500722G>A, NT_187660.1:g.3613174G>A, NM_015995.4:c.138G>A, NM_015995.3:c.138G>A, NM_015995.2:c.138G>A, NM_001302461.2:c.138G>A, NM_001302461.1:c.138G>A

Select item 14903647252.

rs1490364725 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:31372033 (GRCh38)
15:31664236 (GRCh37)
Canonical SPDI:: NC_000015.10:31372032:T:C
Gene:: KLF13 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.31372033T>C, NC_000015.9:g.31664236T>C, NW_011332701.1:g.3545421T>C, NT_187660.1:g.3657873T>C, NM_015995.4:c.601T>C, NM_015995.3:c.601T>C, NM_015995.2:c.601T>C, NP_057079.2:p.Trp201Arg

Select item 14888445733.

rs1488844573 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:31327472 (GRCh38)
15:31619675 (GRCh37)
Canonical SPDI:: NC_000015.10:31327471:C:T
Gene:: KLF13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.31327472C>T, NC_000015.9:g.31619675C>T, NW_011332701.1:g.3500844C>T, NT_187660.1:g.3613296C>T, NM_015995.4:c.260C>T, NM_015995.3:c.260C>T, NM_015995.2:c.260C>T, NM_001302461.2:c.260C>T, NM_001302461.1:c.260C>T, NP_057079.2:p.Ala87Val, NP_001289390.1:p.Ala87Val

Select item 14887747044.

rs1488774704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:31327291 (GRCh38)
15:31619494 (GRCh37)
Canonical SPDI:: NC_000015.10:31327290:C:T
Gene:: KLF13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.31327291C>T, NC_000015.9:g.31619494C>T, NW_011332701.1:g.3500663C>T, NT_187660.1:g.3613115C>T, NM_015995.4:c.79C>T, NM_015995.3:c.79C>T, NM_015995.2:c.79C>T, NM_001302461.2:c.79C>T, NM_001302461.1:c.79C>T, NP_057079.2:p.Pro27Ser, NP_001289390.1:p.Pro27Ser

Select item 14877597965.

rs1487759796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:31372131 (GRCh38)
15:31664334 (GRCh37)
Canonical SPDI:: NC_000015.10:31372130:G:T
Gene:: KLF13 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.31372131G>T, NC_000015.9:g.31664334G>T, NW_011332701.1:g.3545519G>T, NT_187660.1:g.3657971G>T, NM_015995.4:c.699G>T, NM_015995.3:c.699G>T, NM_015995.2:c.699G>T, NP_057079.2:p.Glu233Asp

Select item 14876678776.

rs1487667877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:31327322 (GRCh38)
15:31619525 (GRCh37)
Canonical SPDI:: NC_000015.10:31327321:G:A
Gene:: KLF13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.31327322G>A, NC_000015.9:g.31619525G>A, NW_011332701.1:g.3500694G>A, NT_187660.1:g.3613146G>A, NM_015995.4:c.110G>A, NM_015995.3:c.110G>A, NM_015995.2:c.110G>A, NM_001302461.2:c.110G>A, NM_001302461.1:c.110G>A, NP_057079.2:p.Gly37Asp, NP_001289390.1:p.Gly37Asp

Select item 14869725827.

rs1486972582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:31327722 (GRCh38)
15:31619925 (GRCh37)
Canonical SPDI:: NC_000015.10:31327721:C:G,NC_000015.10:31327721:C:T
Gene:: KLF13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.31327722C>G, NC_000015.10:g.31327722C>T, NC_000015.9:g.31619925C>G, NC_000015.9:g.31619925C>T, NW_011332701.1:g.3501094C>G, NW_011332701.1:g.3501094C>T, NT_187660.1:g.3613546C>G, NT_187660.1:g.3613546C>T, NM_015995.4:c.510C>G, NM_015995.4:c.510C>T, NM_015995.3:c.510C>G, NM_015995.3:c.510C>T, NM_015995.2:c.510C>G, NM_015995.2:c.510C>T, NM_001302461.2:c.510C>G, NM_001302461.2:c.510C>T, NM_001302461.1:c.510C>G, NM_001302461.1:c.510C>T, NP_057079.2:p.His170Gln, NP_001289390.1:p.His170Gln

Select item 14840068998.

rs1484006899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:31327605 (GRCh38)
15:31619808 (GRCh37)
Canonical SPDI:: NC_000015.10:31327604:G:A
Gene:: KLF13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.31327605G>A, NC_000015.9:g.31619808G>A, NW_011332701.1:g.3500977G>A, NT_187660.1:g.3613429G>A, NM_015995.4:c.393G>A, NM_015995.3:c.393G>A, NM_015995.2:c.393G>A, NM_001302461.2:c.393G>A, NM_001302461.1:c.393G>A

Select item 14830164479.

rs1483016447 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCCCGAGCGGGAGCCGG [Show Flanks]
Chromosome:: 15:31327604 (GRCh38)
15:31619808 (GRCh37)
Canonical SPDI:: NC_000015.10:31327604:GGAGCCCGAGCGGGAGCCGG:GGAGCCCGAGCGGGAGCCGGAGCCCGAGCGGGAGCCGG
Gene:: KLF13 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: GGAGCCCGAGCGGGAGCCGGAGCCCGAGCGGGAGCCGG=0./0 (ALFA)
GGAGCCCGAGCGGGAGCC=0.000022/3 (GnomAD)
HGVS:: NC_000015.10:g.31327607_31327624dup, NC_000015.9:g.31619810_31619827dup, NW_011332701.1:g.3500979_3500996dup, NT_187660.1:g.3613431_3613448dup, NM_015995.4:c.395_412dup, NM_015995.3:c.395_412dup, NM_015995.2:c.395_412dup, NM_001302461.2:c.395_412dup, NM_001302461.1:c.395_412dup, NP_057079.2:p.Glu132_Pro137dup, NP_001289390.1:p.Glu132_Pro137dup

Select item 148204676910.

rs1482046769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:31372189 (GRCh38)
15:31664392 (GRCh37)
Canonical SPDI:: NC_000015.10:31372188:C:T
Gene:: KLF13 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.31372189C>T, NC_000015.9:g.31664392C>T, NW_011332701.1:g.3545577C>T, NT_187660.1:g.3658029C>T, NM_015995.4:c.757C>T, NM_015995.3:c.757C>T, NM_015995.2:c.757C>T, NP_057079.2:p.His253Tyr

Select item 148114640111.

rs1481146401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:31327436 (GRCh38)
15:31619639 (GRCh37)
Canonical SPDI:: NC_000015.10:31327435:C:A
Gene:: KLF13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.31327436C>A, NC_000015.9:g.31619639C>A, NW_011332701.1:g.3500808C>A, NT_187660.1:g.3613260C>A, NM_015995.4:c.224C>A, NM_015995.3:c.224C>A, NM_015995.2:c.224C>A, NM_001302461.2:c.224C>A, NM_001302461.1:c.224C>A, NP_057079.2:p.Ala75Glu, NP_001289390.1:p.Ala75Glu

Select item 147528488012.

rs1475284880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:31327529 (GRCh38)
15:31619732 (GRCh37)
Canonical SPDI:: NC_000015.10:31327528:C:A,NC_000015.10:31327528:C:T
Gene:: KLF13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.31327529C>A, NC_000015.10:g.31327529C>T, NC_000015.9:g.31619732C>A, NC_000015.9:g.31619732C>T, NW_011332701.1:g.3500901C>A, NW_011332701.1:g.3500901C>T, NT_187660.1:g.3613353C>A, NT_187660.1:g.3613353C>T, NM_015995.4:c.317C>A, NM_015995.4:c.317C>T, NM_015995.3:c.317C>A, NM_015995.3:c.317C>T, NM_015995.2:c.317C>A, NM_015995.2:c.317C>T, NM_001302461.2:c.317C>A, NM_001302461.2:c.317C>T, NM_001302461.1:c.317C>A, NM_001302461.1:c.317C>T, NP_057079.2:p.Thr106Asn, NP_057079.2:p.Thr106Ile, NP_001289390.1:p.Thr106Asn, NP_001289390.1:p.Thr106Ile

Select item 147304156613.

rs1473041566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:31327227 (GRCh38)
15:31619430 (GRCh37)
Canonical SPDI:: NC_000015.10:31327226:C:G
Gene:: KLF13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000015.10:g.31327227C>G, NC_000015.9:g.31619430C>G, NW_011332701.1:g.3500599C>G, NT_187660.1:g.3613051C>G, NM_015995.4:c.15C>G, NM_015995.3:c.15C>G, NM_015995.2:c.15C>G, NM_001302461.2:c.15C>G, NM_001302461.1:c.15C>G

Select item 147104895014.

rs1471048950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:31327631 (GRCh38)
15:31619834 (GRCh37)
Canonical SPDI:: NC_000015.10:31327630:C:G
Gene:: KLF13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.31327631C>G, NC_000015.9:g.31619834C>G, NW_011332701.1:g.3501003C>G, NT_187660.1:g.3613455C>G, NM_015995.4:c.419C>G, NM_015995.3:c.419C>G, NM_015995.2:c.419C>G, NM_001302461.2:c.419C>G, NM_001302461.1:c.419C>G, NP_057079.2:p.Ala140Gly, NP_001289390.1:p.Ala140Gly

Select item 147103420015.

rs1471034200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:31327512 (GRCh38)
15:31619715 (GRCh37)
Canonical SPDI:: NC_000015.10:31327511:G:A
Gene:: KLF13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000037/5 (GnomAD)
HGVS:: NC_000015.10:g.31327512G>A, NC_000015.9:g.31619715G>A, NW_011332701.1:g.3500884G>A, NT_187660.1:g.3613336G>A, NM_015995.4:c.300G>A, NM_015995.3:c.300G>A, NM_015995.2:c.300G>A, NM_001302461.2:c.300G>A, NM_001302461.1:c.300G>A

Select item 147081332816.

rs1470813328 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:31372255 (GRCh38)
15:31664458 (GRCh37)
Canonical SPDI:: NC_000015.10:31372254:T:C
Gene:: KLF13 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000006/1 (GnomAD_exomes)
C=0.01174/34 (KOREAN)
HGVS:: NC_000015.10:g.31372255T>C, NC_000015.9:g.31664458T>C, NW_011332701.1:g.3545643T>C, NT_187660.1:g.3658095T>C, NM_015995.4:c.823T>C, NM_015995.3:c.823T>C, NM_015995.2:c.823T>C, NP_057079.2:p.Ser275Pro

Select item 146646505817.

rs1466465058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:31372156 (GRCh38)
15:31664359 (GRCh37)
Canonical SPDI:: NC_000015.10:31372155:C:T
Gene:: KLF13 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.31372156C>T, NC_000015.9:g.31664359C>T, NW_011332701.1:g.3545544C>T, NT_187660.1:g.3657996C>T, NM_015995.4:c.724C>T, NM_015995.3:c.724C>T, NM_015995.2:c.724C>T

Select item 146251155518.

rs1462511555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:31327556 (GRCh38)
15:31619759 (GRCh37)
Canonical SPDI:: NC_000015.10:31327555:C:G,NC_000015.10:31327555:C:T
Gene:: KLF13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
T=0.000312/2 (1000Genomes)
T=0.001667/1 (NorthernSweden)
HGVS:: NC_000015.10:g.31327556C>G, NC_000015.10:g.31327556C>T, NC_000015.9:g.31619759C>G, NC_000015.9:g.31619759C>T, NW_011332701.1:g.3500928C>G, NW_011332701.1:g.3500928C>T, NT_187660.1:g.3613380C>G, NT_187660.1:g.3613380C>T, NM_015995.4:c.344C>G, NM_015995.4:c.344C>T, NM_015995.3:c.344C>G, NM_015995.3:c.344C>T, NM_015995.2:c.344C>G, NM_015995.2:c.344C>T, NM_001302461.2:c.344C>G, NM_001302461.2:c.344C>T, NM_001302461.1:c.344C>G, NM_001302461.1:c.344C>T, NP_057079.2:p.Ala115Gly, NP_057079.2:p.Ala115Val, NP_001289390.1:p.Ala115Gly, NP_001289390.1:p.Ala115Val

Select item 146194419219.

rs1461944192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:31327603 (GRCh38)
15:31619806 (GRCh37)
Canonical SPDI:: NC_000015.10:31327602:C:G,NC_000015.10:31327602:C:T
Gene:: KLF13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.31327603C>G, NC_000015.10:g.31327603C>T, NC_000015.9:g.31619806C>G, NC_000015.9:g.31619806C>T, NW_011332701.1:g.3500975C>G, NW_011332701.1:g.3500975C>T, NT_187660.1:g.3613427C>G, NT_187660.1:g.3613427C>T, NM_015995.4:c.391C>G, NM_015995.4:c.391C>T, NM_015995.3:c.391C>G, NM_015995.3:c.391C>T, NM_015995.2:c.391C>G, NM_015995.2:c.391C>T, NM_001302461.2:c.391C>G, NM_001302461.2:c.391C>T, NM_001302461.1:c.391C>G, NM_001302461.1:c.391C>T, NP_057079.2:p.Leu131Val, NP_001289390.1:p.Leu131Val

Select item 145628819620.

rs1456288196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:31327768 (GRCh38)
15:31619971 (GRCh37)
Canonical SPDI:: NC_000015.10:31327767:G:T
Gene:: KLF13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.31327768G>T, NC_000015.9:g.31619971G>T, NW_011332701.1:g.3501140G>T, NT_187660.1:g.3613592G>T, NM_015995.4:c.556G>T, NM_015995.3:c.556G>T, NM_015995.2:c.556G>T, NM_001302461.2:c.556G>T, NM_001302461.1:c.556G>T, NP_057079.2:p.Ala186Ser, NP_001289390.1:p.Ala186Ser

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