SNP Links for Protein (Select 46409326) - SNP

Links from Protein

Items: 1 to 20 of 230

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Select item 14888748021.

rs1488874802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10064755 (GRCh38)
12:10217354 (GRCh37)
Canonical SPDI:: NC_000012.12:10064754:G:A
Gene:: CLEC9A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10064755G>A, NC_000012.11:g.10217354G>A, NM_207345.4:c.495G>A, NM_207345.3:c.495G>A, NM_207345.2:c.495G>A

Select item 14851820332.

rs1485182033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10063092 (GRCh38)
12:10215691 (GRCh37)
Canonical SPDI:: NC_000012.12:10063091:G:A
Gene:: CLEC9A (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=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.10063092G>A, NC_000012.11:g.10215691G>A, NM_207345.4:c.357G>A, NM_207345.3:c.357G>A, NM_207345.2:c.357G>A

Select item 14779304913.

rs1477930491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10063065 (GRCh38)
12:10215664 (GRCh37)
Canonical SPDI:: NC_000012.12:10063064:C:T
Gene:: CLEC9A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.10063065C>T, NC_000012.11:g.10215664C>T, NM_207345.4:c.330C>T, NM_207345.3:c.330C>T, NM_207345.2:c.330C>T

Select item 14741379954.

rs1474137995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10065577 (GRCh38)
12:10218176 (GRCh37)
Canonical SPDI:: NC_000012.12:10065576:G:A
Gene:: CLEC9A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.10065577G>A, NC_000012.11:g.10218176G>A, NM_207345.4:c.671G>A, NM_207345.3:c.671G>A, NM_207345.2:c.671G>A, NP_997228.1:p.Cys224Tyr

Select item 14736511315.

rs1473651131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:10061230 (GRCh38)
12:10213829 (GRCh37)
Canonical SPDI:: NC_000012.12:10061229:G:C
Gene:: CLEC9A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10061230G>C, NC_000012.11:g.10213829G>C, NM_207345.4:c.276G>C, NM_207345.3:c.276G>C, NM_207345.2:c.276G>C, NP_997228.1:p.Gln92His

Select item 14727044976.

rs1472704497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10054285 (GRCh38)
12:10206884 (GRCh37)
Canonical SPDI:: NC_000012.12:10054284:G:A
Gene:: CLEC9A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10054285G>A, NC_000012.11:g.10206884G>A, NM_207345.4:c.106G>A, NM_207345.3:c.106G>A, NM_207345.2:c.106G>A, NP_997228.1:p.Val36Met

Select item 14709924497.

rs1470992449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10052730 (GRCh38)
12:10205329 (GRCh37)
Canonical SPDI:: NC_000012.12:10052729:C:T
Gene:: CLEC9A (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_000012.12:g.10052730C>T, NC_000012.11:g.10205329C>T, NM_207345.4:c.43C>T, NM_207345.3:c.43C>T, NM_207345.2:c.43C>T, NP_997228.1:p.Pro15Ser

Select item 14657043568.

rs1465704356 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCGT>- [Show Flanks]
Chromosome:: 12:10065567 (GRCh38)
12:10218166 (GRCh37)
Canonical SPDI:: NC_000012.12:10065565:TTCGT:T
Gene:: CLEC9A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10065567_10065570del, NC_000012.11:g.10218166_10218169del, NM_207345.4:c.661_664del, NM_207345.3:c.661_664del, NM_207345.2:c.661_664del, NP_997228.1:p.Ser221fs

Select item 14598103859.

rs1459810385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:10063110 (GRCh38)
12:10215709 (GRCh37)
Canonical SPDI:: NC_000012.12:10063109:C:A,NC_000012.12:10063109:C:T
Gene:: CLEC9A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10063110C>A, NC_000012.12:g.10063110C>T, NC_000012.11:g.10215709C>A, NC_000012.11:g.10215709C>T, NM_207345.4:c.375C>A, NM_207345.4:c.375C>T, NM_207345.3:c.375C>A, NM_207345.3:c.375C>T, NM_207345.2:c.375C>A, NM_207345.2:c.375C>T, NP_997228.1:p.Tyr125Ter

Select item 145405130410.

rs1454051304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:10065628 (GRCh38)
12:10218227 (GRCh37)
Canonical SPDI:: NC_000012.12:10065627:T:A
Gene:: CLEC9A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.10065628T>A, NC_000012.11:g.10218227T>A, NM_207345.4:c.722T>A, NM_207345.3:c.722T>A, NM_207345.2:c.722T>A, NP_997228.1:p.Val241Asp

Select item 145059292111.

rs1450592921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10061218 (GRCh38)
12:10213817 (GRCh37)
Canonical SPDI:: NC_000012.12:10061217:C:T
Gene:: CLEC9A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10061218C>T, NC_000012.11:g.10213817C>T, NM_207345.4:c.264C>T, NM_207345.3:c.264C>T, NM_207345.2:c.264C>T

Select item 145058320912.

rs1450583209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:10054295 (GRCh38)
12:10206894 (GRCh37)
Canonical SPDI:: NC_000012.12:10054294:T:C
Gene:: CLEC9A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.10054295T>C, NC_000012.11:g.10206894T>C, NM_207345.4:c.116T>C, NM_207345.3:c.116T>C, NM_207345.2:c.116T>C, NP_997228.1:p.Ile39Thr

Select item 144706509613.

rs1447065096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10054331 (GRCh38)
12:10206930 (GRCh37)
Canonical SPDI:: NC_000012.12:10054330:C:T
Gene:: CLEC9A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10054331C>T, NC_000012.11:g.10206930C>T, NM_207345.4:c.152C>T, NM_207345.3:c.152C>T, NM_207345.2:c.152C>T, NP_997228.1:p.Ser51Phe

Select item 144450433314.

rs1444504333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10064850 (GRCh38)
12:10217449 (GRCh37)
Canonical SPDI:: NC_000012.12:10064849:G:A
Gene:: CLEC9A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10064850G>A, NC_000012.11:g.10217449G>A, NM_207345.4:c.590G>A, NM_207345.3:c.590G>A, NM_207345.2:c.590G>A, NP_997228.1:p.Gly197Asp

Select item 143227111415.

rs1432271114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10061185 (GRCh38)
12:10213784 (GRCh37)
Canonical SPDI:: NC_000012.12:10061184:G:A
Gene:: CLEC9A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.10061185G>A, NC_000012.11:g.10213784G>A, NM_207345.4:c.231G>A, NM_207345.3:c.231G>A, NM_207345.2:c.231G>A

Select item 142716785616.

rs1427167856 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: 12:10052730 (GRCh38)
12:10205329 (GRCh37)
Canonical SPDI:: NC_000012.12:10052728:CCC:C
Gene:: CLEC9A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10052730_10052731del, NC_000012.11:g.10205329_10205330del, NM_207345.4:c.43_44del, NM_207345.3:c.43_44del, NM_207345.2:c.43_44del, NP_997228.1:p.Pro15fs

Select item 142286547717.

rs1422865477 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:10061233 (GRCh38)
12:10213833 (GRCh37)
Canonical SPDI:: NC_000012.12:10061233:AAA:AAAA
Gene:: CLEC9A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.10061236dup, NC_000012.11:g.10213835dup, NM_207345.4:c.282dup, NM_207345.3:c.282dup, NM_207345.2:c.282dup, NP_997228.1:p.Tyr95fs

Select item 140936978718.

rs1409369787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:10061248 (GRCh38)
12:10213847 (GRCh37)
Canonical SPDI:: NC_000012.12:10061247:C:A
Gene:: CLEC9A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.10061248C>A, NC_000012.11:g.10213847C>A, NM_207345.4:c.294C>A, NM_207345.3:c.294C>A, NM_207345.2:c.294C>A

Select item 140838125219.

rs1408381252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:10061128 (GRCh38)
12:10213727 (GRCh37)
Canonical SPDI:: NC_000012.12:10061127:G:C,NC_000012.12:10061127:G:T
Gene:: CLEC9A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.10061128G>C, NC_000012.12:g.10061128G>T, NC_000012.11:g.10213727G>C, NC_000012.11:g.10213727G>T, NM_207345.4:c.174G>C, NM_207345.4:c.174G>T, NM_207345.3:c.174G>C, NM_207345.3:c.174G>T, NM_207345.2:c.174G>C, NM_207345.2:c.174G>T, NP_997228.1:p.Leu58Phe, NP_997228.1:p.Leu58Phe

Select item 140695904120.

rs1406959041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10061181 (GRCh38)
12:10213780 (GRCh37)
Canonical SPDI:: NC_000012.12:10061180:A:G
Gene:: CLEC9A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10061181A>G, NC_000012.11:g.10213780A>G, NM_207345.4:c.227A>G, NM_207345.3:c.227A>G, NM_207345.2:c.227A>G, NP_997228.1:p.Glu76Gly

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