SNP Links for Protein (Select 9966867) - SNP

Links from Protein

Items: 1 to 20 of 120

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Select item 14900154311.

rs1490015431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:170907024 (GRCh38)
3:170624813 (GRCh37)
Canonical SPDI:: NC_000003.12:170907023:T:C
Gene:: EIF5A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.170907024T>C, NC_000003.11:g.170624813T>C, NM_020390.6:c.235A>G, NM_020390.5:c.235A>G, NP_065123.1:p.Met79Val

Select item 14670654612.

rs1467065461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:170907700 (GRCh38)
3:170625489 (GRCh37)
Canonical SPDI:: NC_000003.12:170907699:C:T
Gene:: EIF5A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.170907700C>T, NC_000003.11:g.170625489C>T, NM_020390.6:c.107G>A, NM_020390.5:c.107G>A, NP_065123.1:p.Arg36Gln

Select item 14641709943.

rs1464170994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:170894368 (GRCh38)
3:170612157 (GRCh37)
Canonical SPDI:: NC_000003.12:170894367:C:G,NC_000003.12:170894367:C:T
Gene:: EIF5A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.170894368C>G, NC_000003.12:g.170894368C>T, NC_000003.11:g.170612157C>G, NC_000003.11:g.170612157C>T, NM_020390.6:c.326G>C, NM_020390.6:c.326G>A, NM_020390.5:c.326G>C, NM_020390.5:c.326G>A, NP_065123.1:p.Arg109Pro, NP_065123.1:p.Arg109His

Select item 14574525154.

rs1457452515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:170907064 (GRCh38)
3:170624853 (GRCh37)
Canonical SPDI:: NC_000003.12:170907063:C:T
Gene:: EIF5A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.170907064C>T, NC_000003.11:g.170624853C>T, NM_020390.6:c.195G>A, NM_020390.5:c.195G>A

Select item 14446524915.

rs1444652491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:170894345 (GRCh38)
3:170612134 (GRCh37)
Canonical SPDI:: NC_000003.12:170894344:C:T
Gene:: EIF5A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.170894345C>T, NC_000003.11:g.170612134C>T, NM_020390.6:c.349G>A, NM_020390.5:c.349G>A, NP_065123.1:p.Gly117Ser

Select item 14403072206.

rs1440307220 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:170907049 (GRCh38)
3:170624838 (GRCh37)
Canonical SPDI:: NC_000003.12:170907048:T:C
Gene:: EIF5A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.170907049T>C, NC_000003.11:g.170624838T>C, NM_020390.6:c.210A>G, NM_020390.5:c.210A>G

Select item 14340996087.

rs1434099608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:170907771 (GRCh38)
3:170625560 (GRCh37)
Canonical SPDI:: NC_000003.12:170907770:G:T
Gene:: EIF5A2 (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=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.170907771G>T, NC_000003.11:g.170625560G>T, NM_020390.6:c.36C>A, NM_020390.5:c.36C>A

Select item 14174140648.

rs1417414064 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:170894316 (GRCh38)
3:170612105 (GRCh37)
Canonical SPDI:: NC_000003.12:170894315:T:A
Gene:: EIF5A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.170894316T>A, NC_000003.11:g.170612105T>A, NM_020390.6:c.378A>T, NM_020390.5:c.378A>T, NP_065123.1:p.Lys126Asn

Select item 14148386289.

rs1414838628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:170907706 (GRCh38)
3:170625495 (GRCh37)
Canonical SPDI:: NC_000003.12:170907705:T:C
Gene:: EIF5A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.170907706T>C, NC_000003.11:g.170625495T>C, NM_020390.6:c.101A>G, NM_020390.5:c.101A>G, NP_065123.1:p.Lys34Arg

Select item 140262696310.

rs1402626963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:170894372 (GRCh38)
3:170612161 (GRCh37)
Canonical SPDI:: NC_000003.12:170894371:C:T
Gene:: EIF5A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000003.12:g.170894372C>T, NC_000003.11:g.170612161C>T, NM_020390.6:c.322G>A, NM_020390.5:c.322G>A, NP_065123.1:p.Val108Ile

Select item 139761750011.

rs1397617500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:170907707 (GRCh38)
3:170625496 (GRCh37)
Canonical SPDI:: NC_000003.12:170907706:T:C
Gene:: EIF5A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.170907707T>C, NC_000003.11:g.170625496T>C, NM_020390.6:c.100A>G, NM_020390.5:c.100A>G, NP_065123.1:p.Lys34Glu

Select item 138943428012.

rs1389434280 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:170893414 (GRCh38)
3:170611203 (GRCh37)
Canonical SPDI:: NC_000003.12:170893413:A:G
Gene:: EIF5A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.170893414A>G, NC_000003.11:g.170611203A>G, NM_020390.6:c.408T>C, NM_020390.5:c.408T>C

Select item 136683704113.

rs1366837041 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:170907055 (GRCh38)
3:170624844 (GRCh37)
Canonical SPDI:: NC_000003.12:170907054:TTTTTT:TTTTT
Gene:: EIF5A2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.170907060del, NC_000003.11:g.170624849del, NM_020390.6:c.204del, NM_020390.5:c.204del, NP_065123.1:p.Lys68fs

Select item 135922348914.

rs1359223489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:170907779 (GRCh38)
3:170625568 (GRCh37)
Canonical SPDI:: NC_000003.12:170907778:C:T
Gene:: EIF5A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.170907779C>T, NC_000003.11:g.170625568C>T, NM_020390.6:c.28G>A, NM_020390.5:c.28G>A, NP_065123.1:p.Gly10Arg

Select item 135893627915.

rs1358936279 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:170907697 (GRCh38)
3:170625486 (GRCh37)
Canonical SPDI:: NC_000003.12:170907696:GG:G
Gene:: EIF5A2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.170907698del, NC_000003.11:g.170625487del, NM_020390.6:c.110del, NM_020390.5:c.110del, NP_065123.1:p.Pro37fs

Select item 135686892416.

rs1356868924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:170907705 (GRCh38)
3:170625494 (GRCh37)
Canonical SPDI:: NC_000003.12:170907704:T:C
Gene:: EIF5A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.170907705T>C, NC_000003.11:g.170625494T>C, NM_020390.6:c.102A>G, NM_020390.5:c.102A>G

Select item 133999854017.

rs1339998540 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:170894381 (GRCh38)
3:170612170 (GRCh37)
Canonical SPDI:: NC_000003.12:170894380:T:C
Gene:: EIF5A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.170894381T>C, NC_000003.11:g.170612170T>C, NM_020390.6:c.313A>G, NM_020390.5:c.313A>G, NP_065123.1:p.Thr105Ala

Select item 133321396218.

rs1333213962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:170894297 (GRCh38)
3:170612086 (GRCh37)
Canonical SPDI:: NC_000003.12:170894296:C:G
Gene:: EIF5A2 (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=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.170894297C>G, NC_000003.11:g.170612086C>G, NM_020390.6:c.397G>C, NM_020390.5:c.397G>C, NP_065123.1:p.Val133Leu

Select item 133116371019.

rs1331163710 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:170907089 (GRCh38)
3:170624878 (GRCh37)
Canonical SPDI:: NC_000003.12:170907088:T:C
Gene:: EIF5A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.170907089T>C, NC_000003.11:g.170624878T>C, NM_020390.6:c.170A>G, NM_020390.5:c.170A>G, NP_065123.1:p.His57Arg

Select item 132712384120.

rs1327123841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:170907798 (GRCh38)
3:170625587 (GRCh37)
Canonical SPDI:: NC_000003.12:170907797:G:C
Gene:: EIF5A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.170907798G>C, NC_000003.11:g.170625587G>C, NM_020390.6:c.9C>G, NM_020390.5:c.9C>G, NP_065123.1:p.Asp3Glu

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