SNP Links for Protein (Select 4503523) - SNP

Links from Protein

Items: 1 to 20 of 398

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Select item 14907246421.

rs1490724642 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:36525675 (GRCh38)
22:36921722 (GRCh37)
Canonical SPDI:: NC_000022.11:36525674:T:C
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36525675T>C, NC_000022.10:g.36921722T>C, NM_003753.4:c.158A>G, NM_003753.3:c.158A>G, NR_156418.2:n.259A>G, NR_156418.1:n.323A>G, XM_047441560.1:c.158A>G, NP_003744.1:p.Lys53Arg, XP_047297516.1:p.Lys53Arg

Select item 14902325792.

rs1490232579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:36523952 (GRCh38)
22:36919999 (GRCh37)
Canonical SPDI:: NC_000022.11:36523951:C:T
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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_000022.11:g.36523952C>T, NC_000022.10:g.36919999C>T, NM_003753.4:c.335G>A, NM_003753.3:c.335G>A, NR_156418.2:n.436G>A, NR_156418.1:n.500G>A, XM_047441560.1:c.335G>A, NP_003744.1:p.Arg112Gln, XP_047297516.1:p.Arg112Gln

Select item 14866761853.

rs1486676185 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:36511608 (GRCh38)
22:36907655 (GRCh37)
Canonical SPDI:: NC_000022.11:36511607:T:C
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.36511608T>C, NC_000022.10:g.36907655T>C, NM_003753.4:c.1528A>G, NM_003753.3:c.1528A>G, NR_156418.2:n.1691A>G, NR_156418.1:n.1755A>G, NP_003744.1:p.Lys510Glu

Select item 14789864264.

rs1478986426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:36518889 (GRCh38)
22:36914936 (GRCh37)
Canonical SPDI:: NC_000022.11:36518888:C:T
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000022.11:g.36518889C>T, NC_000022.10:g.36914936C>T, NM_003753.4:c.733G>A, NM_003753.3:c.733G>A, NR_156418.2:n.834G>A, NR_156418.1:n.898G>A, XM_047441560.1:c.733G>A, NP_003744.1:p.Val245Met, XP_047297516.1:p.Val245Met

Select item 14668696665.

rs1466869666 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:36520590 (GRCh38)
22:36916637 (GRCh37)
Canonical SPDI:: NC_000022.11:36520589:T:A
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.36520590T>A, NC_000022.10:g.36916637T>A, NM_003753.4:c.564A>T, NM_003753.3:c.564A>T, NR_156418.2:n.665A>T, NR_156418.1:n.729A>T, XM_047441560.1:c.564A>T

Select item 14667045936.

rs1466704593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:36523270 (GRCh38)
22:36919317 (GRCh37)
Canonical SPDI:: NC_000022.11:36523269:C:T
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36523270C>T, NC_000022.10:g.36919317C>T, NM_003753.4:c.404G>A, NM_003753.3:c.404G>A, NR_156418.2:n.505G>A, NR_156418.1:n.569G>A, XM_047441560.1:c.404G>A, NP_003744.1:p.Arg135Gln, XP_047297516.1:p.Arg135Gln

Select item 14666525887.

rs1466652588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:36518836 (GRCh38)
22:36914883 (GRCh37)
Canonical SPDI:: NC_000022.11:36518835:C:T
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36518836C>T, NC_000022.10:g.36914883C>T, NM_003753.4:c.786G>A, NM_003753.3:c.786G>A, NR_156418.2:n.887G>A, NR_156418.1:n.951G>A, XM_047441560.1:c.786G>A

Select item 14665318238.

rs1466531823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:36520589 (GRCh38)
22:36916636 (GRCh37)
Canonical SPDI:: NC_000022.11:36520588:C:G
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36520589C>G, NC_000022.10:g.36916636C>G, NM_003753.4:c.565G>C, NM_003753.3:c.565G>C, NR_156418.2:n.666G>C, NR_156418.1:n.730G>C, XM_047441560.1:c.565G>C, NP_003744.1:p.Glu189Gln, XP_047297516.1:p.Glu189Gln

Select item 14658303799.

rs1465830379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:36520679 (GRCh38)
22:36916726 (GRCh37)
Canonical SPDI:: NC_000022.11:36520678:C:T
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36520679C>T, NC_000022.10:g.36916726C>T, NM_003753.4:c.475G>A, NM_003753.3:c.475G>A, NR_156418.2:n.576G>A, NR_156418.1:n.640G>A, XM_047441560.1:c.475G>A, NP_003744.1:p.Asp159Asn, XP_047297516.1:p.Asp159Asn

Select item 146482563610.

rs1464825636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:36511780 (GRCh38)
22:36907827 (GRCh37)
Canonical SPDI:: NC_000022.11:36511779:C:G
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.36511780C>G, NC_000022.10:g.36907827C>G, NM_003753.4:c.1356G>C, NM_003753.3:c.1356G>C, NR_156418.2:n.1519G>C, NR_156418.1:n.1583G>C

Select item 146477771211.

rs1464777712 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:36526044 (GRCh38)
22:36922091 (GRCh37)
Canonical SPDI:: NC_000022.11:36526043:C:A,NC_000022.11:36526043:C:T
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36526044C>A, NC_000022.11:g.36526044C>T, NC_000022.10:g.36922091C>A, NC_000022.10:g.36922091C>T, NM_003753.4:c.78G>T, NM_003753.4:c.78G>A, NM_003753.3:c.78G>T, NM_003753.3:c.78G>A, NR_156418.2:n.179G>T, NR_156418.2:n.179G>A, NR_156418.1:n.243G>T, NR_156418.1:n.243G>A, XM_047441560.1:c.78G>T, XM_047441560.1:c.78G>A

Select item 146393562912.

rs1463935629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:36526117 (GRCh38)
22:36922164 (GRCh37)
Canonical SPDI:: NC_000022.11:36526116:G:T
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.36526117G>T, NC_000022.10:g.36922164G>T, NM_003753.4:c.5C>A, NM_003753.3:c.5C>A, NR_156418.2:n.106C>A, NR_156418.1:n.170C>A, XM_047441560.1:c.5C>A, NP_003744.1:p.Ala2Glu, XP_047297516.1:p.Ala2Glu

Select item 145835737513.

rs1458357375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:36516603 (GRCh38)
22:36912650 (GRCh37)
Canonical SPDI:: NC_000022.11:36516602:G:A
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.36516603G>A, NC_000022.10:g.36912650G>A, NM_003753.4:c.1081C>T, NM_003753.3:c.1081C>T, NR_156418.2:n.1244C>T, NR_156418.1:n.1308C>T, NP_003744.1:p.Arg361Cys

Select item 145830488714.

rs1458304887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:36519433 (GRCh38)
22:36915480 (GRCh37)
Canonical SPDI:: NC_000022.11:36519432:G:A
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36519433G>A, NC_000022.10:g.36915480G>A, NM_003753.4:c.683C>T, NM_003753.3:c.683C>T, NR_156418.2:n.784C>T, NR_156418.1:n.848C>T, XM_047441560.1:c.683C>T, NP_003744.1:p.Thr228Ile, XP_047297516.1:p.Thr228Ile

Select item 145502014915.

rs1455020149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:36524599 (GRCh38)
22:36920646 (GRCh37)
Canonical SPDI:: NC_000022.11:36524598:G:A
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.36524599G>A, NC_000022.10:g.36920646G>A, NM_003753.4:c.303C>T, NM_003753.3:c.303C>T, NR_156418.2:n.404C>T, NR_156418.1:n.468C>T, XM_047441560.1:c.303C>T

Select item 145353929416.

rs1453539294 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:36525664 (GRCh38)
22:36921711 (GRCh37)
Canonical SPDI:: NC_000022.11:36525663:T:C
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.36525664T>C, NC_000022.10:g.36921711T>C, NM_003753.4:c.169A>G, NM_003753.3:c.169A>G, NR_156418.2:n.270A>G, NR_156418.1:n.334A>G, XM_047441560.1:c.169A>G, NP_003744.1:p.Asn57Asp, XP_047297516.1:p.Asn57Asp

Select item 144204874017.

rs1442048740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:36518821 (GRCh38)
22:36914868 (GRCh37)
Canonical SPDI:: NC_000022.11:36518820:A:T
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36518821A>T, NC_000022.10:g.36914868A>T, NM_003753.4:c.801T>A, NM_003753.3:c.801T>A, NR_156418.2:n.902T>A, NR_156418.1:n.966T>A, XM_047441560.1:c.801T>A

Select item 144121978318.

rs1441219783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:36516522 (GRCh38)
22:36912569 (GRCh37)
Canonical SPDI:: NC_000022.11:36516521:C:G,NC_000022.11:36516521:C:T
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.36516522C>G, NC_000022.11:g.36516522C>T, NC_000022.10:g.36912569C>G, NC_000022.10:g.36912569C>T, NM_003753.4:c.1162G>C, NM_003753.4:c.1162G>A, NM_003753.3:c.1162G>C, NM_003753.3:c.1162G>A, NR_156418.2:n.1325G>C, NR_156418.2:n.1325G>A, NR_156418.1:n.1389G>C, NR_156418.1:n.1389G>A, NP_003744.1:p.Val388Leu, NP_003744.1:p.Val388Met

Select item 143758207219.

rs1437582072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:36511751 (GRCh38)
22:36907798 (GRCh37)
Canonical SPDI:: NC_000022.11:36511750:C:T
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36511751C>T, NC_000022.10:g.36907798C>T, NM_003753.4:c.1385G>A, NM_003753.3:c.1385G>A, NR_156418.2:n.1548G>A, NR_156418.1:n.1612G>A, NP_003744.1:p.Arg462His

Select item 143494862520.

rs1434948625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:36517384 (GRCh38)
22:36913431 (GRCh37)
Canonical SPDI:: NC_000022.11:36517383:C:A
Gene:: EIF3D (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36517384C>A, NC_000022.10:g.36913431C>A, NM_003753.4:c.907G>T, NM_003753.3:c.907G>T, NR_156418.2:n.1070G>T, NR_156418.1:n.1134G>T, XM_047441560.1:c.*39G>T, NP_003744.1:p.Gly303Cys

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