SNP Links for Protein (Select 4503509) - SNP

Links from Protein

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Select item 14908460751.

rs1490846075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:119070971 (GRCh38)
10:120830483 (GRCh37)
Canonical SPDI:: NC_000010.11:119070970:T:C,NC_000010.11:119070970:T:G
Gene:: EIF3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.119070971T>C, NC_000010.11:g.119070971T>G, NC_000010.10:g.120830483T>C, NC_000010.10:g.120830483T>G, NM_003750.4:c.656A>G, NM_003750.4:c.656A>C, NM_003750.3:c.656A>G, NM_003750.3:c.656A>C, NM_003750.2:c.656A>G, NM_003750.2:c.656A>C, NP_003741.1:p.Asn219Ser, NP_003741.1:p.Asn219Thr

Select item 14889003172.

rs1488900317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119070945 (GRCh38)
10:120830457 (GRCh37)
Canonical SPDI:: NC_000010.11:119070944:T:C
Gene:: EIF3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000010.11:g.119070945T>C, NC_000010.10:g.120830457T>C, NM_003750.4:c.682A>G, NM_003750.3:c.682A>G, NM_003750.2:c.682A>G, NP_003741.1:p.Met228Val

Select item 14880876123.

rs1488087612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119042031 (GRCh38)
10:120801543 (GRCh37)
Canonical SPDI:: NC_000010.11:119042030:G:A
Gene:: EIF3A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000010.11:g.119042031G>A, NC_000010.10:g.120801543G>A, NM_003750.4:c.3489C>T, NM_003750.3:c.3489C>T, NM_003750.2:c.3489C>T

Select item 14879583044.

rs1487958304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:119042310 (GRCh38)
10:120801822 (GRCh37)
Canonical SPDI:: NC_000010.11:119042309:C:G
Gene:: EIF3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.119042310C>G, NC_000010.10:g.120801822C>G, NM_003750.4:c.3210G>C, NM_003750.3:c.3210G>C, NM_003750.2:c.3210G>C, NP_003741.1:p.Arg1070Ser

Select item 14877140455.

rs1487714045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119069624 (GRCh38)
10:120829136 (GRCh37)
Canonical SPDI:: NC_000010.11:119069623:C:T
Gene:: EIF3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.119069624C>T, NC_000010.10:g.120829136C>T, NM_003750.4:c.772G>A, NM_003750.3:c.772G>A, NM_003750.2:c.772G>A, NP_003741.1:p.Gly258Arg

Select item 14864181826.

rs1486418182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:119042207 (GRCh38)
10:120801719 (GRCh37)
Canonical SPDI:: NC_000010.11:119042206:C:A
Gene:: EIF3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.119042207C>A, NC_000010.10:g.120801719C>A, NM_003750.4:c.3313G>T, NM_003750.3:c.3313G>T, NM_003750.2:c.3313G>T, NP_003741.1:p.Asp1105Tyr

Select item 14862428717.

rs1486242871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119042730 (GRCh38)
10:120802242 (GRCh37)
Canonical SPDI:: NC_000010.11:119042729:A:G
Gene:: EIF3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.00004/1 (ALFA)
HGVS:: NC_000010.11:g.119042730A>G, NC_000010.10:g.120802242A>G, NM_003750.4:c.2790T>C, NM_003750.3:c.2790T>C, NM_003750.2:c.2790T>C

Select item 14857708708.

rs1485770870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119038429 (GRCh38)
10:120797941 (GRCh37)
Canonical SPDI:: NC_000010.11:119038428:T:C
Gene:: EIF3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.119038429T>C, NC_000010.10:g.120797941T>C, NM_003750.4:c.3537A>G, NM_003750.3:c.3537A>G, NM_003750.2:c.3537A>G

Select item 14854752169.

rs1485475216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119038426 (GRCh38)
10:120797938 (GRCh37)
Canonical SPDI:: NC_000010.11:119038425:C:T
Gene:: EIF3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000010.11:g.119038426C>T, NC_000010.10:g.120797938C>T, NM_003750.4:c.3540G>A, NM_003750.3:c.3540G>A, NM_003750.2:c.3540G>A

Select item 148526561010.

rs1485265610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119056771 (GRCh38)
10:120816283 (GRCh37)
Canonical SPDI:: NC_000010.11:119056770:A:G
Gene:: EIF3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119056771A>G, NC_000010.10:g.120816283A>G, NM_003750.4:c.2165T>C, NM_003750.3:c.2165T>C, NM_003750.2:c.2165T>C, NP_003741.1:p.Met722Thr

Select item 148492484911.

rs1484924849 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119069619 (GRCh38)
10:120829131 (GRCh37)
Canonical SPDI:: NC_000010.11:119069618:T:C
Gene:: EIF3A (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_000010.11:g.119069619T>C, NC_000010.10:g.120829131T>C, NM_003750.4:c.777A>G, NM_003750.3:c.777A>G, NM_003750.2:c.777A>G

Select item 148468302712.

rs1484683027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119044094 (GRCh38)
10:120803606 (GRCh37)
Canonical SPDI:: NC_000010.11:119044093:G:A
Gene:: EIF3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119044094G>A, NC_000010.10:g.120803606G>A, NM_003750.4:c.2707C>T, NM_003750.3:c.2707C>T, NM_003750.2:c.2707C>T, NP_003741.1:p.Pro903Ser

Select item 148463292713.

rs1484632927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119073011 (GRCh38)
10:120832523 (GRCh37)
Canonical SPDI:: NC_000010.11:119073010:A:G
Gene:: EIF3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.119073011A>G, NC_000010.10:g.120832523A>G, NM_003750.4:c.420T>C, NM_003750.3:c.420T>C, NM_003750.2:c.420T>C

Select item 148439111114.

rs1484391111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119037127 (GRCh38)
10:120796639 (GRCh37)
Canonical SPDI:: NC_000010.11:119037126:C:T
Gene:: EIF3A (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)
HGVS:: NC_000010.11:g.119037127C>T, NC_000010.10:g.120796639C>T, NM_003750.4:c.3911G>A, NM_003750.3:c.3911G>A, NM_003750.2:c.3911G>A, NP_003741.1:p.Arg1304His

Select item 148403490615.

rs1484034906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119051214 (GRCh38)
10:120810726 (GRCh37)
Canonical SPDI:: NC_000010.11:119051213:C:T
Gene:: EIF3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000010.11:g.119051214C>T, NC_000010.10:g.120810726C>T, NM_003750.4:c.2304G>A, NM_003750.3:c.2304G>A, NM_003750.2:c.2304G>A

Select item 148105936716.

rs1481059367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119044081 (GRCh38)
10:120803593 (GRCh37)
Canonical SPDI:: NC_000010.11:119044080:G:A
Gene:: EIF3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000432/8 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000043/6 (GnomAD)
A=0.001563/7 (Estonian)
HGVS:: NC_000010.11:g.119044081G>A, NC_000010.10:g.120803593G>A, NM_003750.4:c.2720C>T, NM_003750.3:c.2720C>T, NM_003750.2:c.2720C>T, NP_003741.1:p.Ser907Phe

Select item 148055651417.

rs1480556514 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119065536 (GRCh38)
10:120825048 (GRCh37)
Canonical SPDI:: NC_000010.11:119065535:T:C
Gene:: EIF3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119065536T>C, NC_000010.10:g.120825048T>C, NM_003750.4:c.985A>G, NM_003750.3:c.985A>G, NM_003750.2:c.985A>G, NP_003741.1:p.Ile329Val

Select item 147991111118.

rs1479911111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119073037 (GRCh38)
10:120832549 (GRCh37)
Canonical SPDI:: NC_000010.11:119073036:C:T
Gene:: EIF3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119073037C>T, NC_000010.10:g.120832549C>T, NM_003750.4:c.394G>A, NM_003750.3:c.394G>A, NM_003750.2:c.394G>A, NP_003741.1:p.Val132Ile

Select item 147753613119.

rs1477536131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119058027 (GRCh38)
10:120817539 (GRCh37)
Canonical SPDI:: NC_000010.11:119058026:C:T
Gene:: EIF3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119058027C>T, NC_000010.10:g.120817539C>T, NM_003750.4:c.1906G>A, NM_003750.3:c.1906G>A, NM_003750.2:c.1906G>A, NP_003741.1:p.Val636Ile

Select item 147643536920.

rs1476435369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119042638 (GRCh38)
10:120802150 (GRCh37)
Canonical SPDI:: NC_000010.11:119042637:C:T
Gene:: EIF3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119042638C>T, NC_000010.10:g.120802150C>T, NM_003750.4:c.2882G>A, NM_003750.3:c.2882G>A, NM_003750.2:c.2882G>A, NP_003741.1:p.Gly961Asp

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