SNP Links for Protein (Select 767993687) - SNP

Links from Protein

Items: 1 to 20 of 388

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Select item 14909593881.

rs1490959388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:62387357 (GRCh38)
17:60464718 (GRCh37)
Canonical SPDI:: NC_000017.11:62387356:G:A,NC_000017.11:62387356:G:T
Gene:: EFCAB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.62387357G>A, NC_000017.11:g.62387357G>T, NC_000017.10:g.60464718G>A, NC_000017.10:g.60464718G>T, NM_173503.4:c.92G>A, NM_173503.4:c.92G>T, NM_173503.3:c.92G>A, NM_173503.3:c.92G>T, XM_011524381.3:c.158G>A, XM_011524381.3:c.158G>T, XM_011524381.2:c.158G>A, XM_011524381.2:c.158G>T, XM_011524381.1:c.92G>A, XM_011524381.1:c.92G>T, NM_001144933.2:c.248G>A, NM_001144933.2:c.248G>T, NM_001144933.1:c.248G>A, NM_001144933.1:c.248G>T, XM_011524380.2:c.92G>A, XM_011524380.2:c.92G>T, XM_011524380.1:c.92G>A, XM_011524380.1:c.92G>T, NP_775774.1:p.Gly31Glu, NP_775774.1:p.Gly31Val, XP_011522683.2:p.Gly53Glu, XP_011522683.2:p.Gly53Val, NP_001138405.1:p.Gly83Glu, NP_001138405.1:p.Gly83Val, XP_011522682.1:p.Gly31Glu, XP_011522682.1:p.Gly31Val

Select item 14865653942.

rs1486565394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:62406580 (GRCh38)
17:60483941 (GRCh37)
Canonical SPDI:: NC_000017.11:62406579:C:A
Gene:: EFCAB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.62406580C>A, NC_000017.10:g.60483941C>A, NM_173503.4:c.589C>A, NM_173503.3:c.589C>A, XM_011524381.3:c.655C>A, XM_011524381.2:c.655C>A, XM_011524381.1:c.589C>A, NM_001144933.2:c.745C>A, NM_001144933.1:c.745C>A, XM_011524380.2:c.589C>A, XM_011524380.1:c.589C>A, NP_775774.1:p.Pro197Thr, XP_011522683.2:p.Pro219Thr, NP_001138405.1:p.Pro249Thr, XP_011522682.1:p.Pro197Thr

Select item 14831302273.

rs1483130227 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:62391887 (GRCh38)
17:60469248 (GRCh37)
Canonical SPDI:: NC_000017.11:62391886:A:T
Gene:: EFCAB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.62391887A>T, NC_000017.10:g.60469248A>T, NM_173503.4:c.217A>T, NM_173503.3:c.217A>T, XM_011524381.3:c.283A>T, XM_011524381.2:c.283A>T, XM_011524381.1:c.217A>T, NM_001144933.2:c.373A>T, NM_001144933.1:c.373A>T, XM_011524380.2:c.217A>T, XM_011524380.1:c.217A>T, NP_775774.1:p.Met73Leu, XP_011522683.2:p.Met95Leu, NP_001138405.1:p.Met125Leu, XP_011522682.1:p.Met73Leu

Select item 14816057984.

rs1481605798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:62416270 (GRCh38)
17:60493631 (GRCh37)
Canonical SPDI:: NC_000017.11:62416269:T:A
Gene:: EFCAB3 (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_000017.11:g.62416270T>A, NC_000017.10:g.60493631T>A, NM_173503.4:c.1258T>A, NM_173503.3:c.1258T>A, XM_011524381.3:c.1324T>A, XM_011524381.2:c.1324T>A, XM_011524381.1:c.1258T>A, NM_001144933.2:c.1414T>A, NM_001144933.1:c.1414T>A, XM_011524380.2:c.1258T>A, XM_011524380.1:c.1258T>A, NP_775774.1:p.Cys420Ser, XP_011522683.2:p.Cys442Ser, NP_001138405.1:p.Cys472Ser, XP_011522682.1:p.Cys420Ser

Select item 14808205905.

rs1480820590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:62407211 (GRCh38)
17:60484572 (GRCh37)
Canonical SPDI:: NC_000017.11:62407210:A:G
Gene:: EFCAB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.62407211A>G, NC_000017.10:g.60484572A>G, NM_173503.4:c.866A>G, NM_173503.3:c.866A>G, XM_011524381.3:c.932A>G, XM_011524381.2:c.932A>G, XM_011524381.1:c.866A>G, NM_001144933.2:c.1022A>G, NM_001144933.1:c.1022A>G, XM_011524380.2:c.866A>G, XM_011524380.1:c.866A>G, NP_775774.1:p.Gln289Arg, XP_011522683.2:p.Gln311Arg, NP_001138405.1:p.Gln341Arg, XP_011522682.1:p.Gln289Arg

Select item 14782312476.

rs1478231247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:62413821 (GRCh38)
17:60491182 (GRCh37)
Canonical SPDI:: NC_000017.11:62413820:T:C
Gene:: EFCAB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.62413821T>C, NC_000017.10:g.60491182T>C, NM_173503.4:c.957T>C, NM_173503.3:c.957T>C, XM_011524381.3:c.1023T>C, XM_011524381.2:c.1023T>C, XM_011524381.1:c.957T>C, NM_001144933.2:c.1113T>C, NM_001144933.1:c.1113T>C, XM_011524380.2:c.957T>C, XM_011524380.1:c.957T>C

Select item 14757669967.

rs1475766996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:62395097 (GRCh38)
17:60472458 (GRCh37)
Canonical SPDI:: NC_000017.11:62395096:G:T
Gene:: EFCAB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.62395097G>T, NC_000017.10:g.60472458G>T, NM_173503.4:c.397G>T, NM_173503.3:c.397G>T, XM_011524381.3:c.463G>T, XM_011524381.2:c.463G>T, XM_011524381.1:c.397G>T, NM_001144933.2:c.553G>T, NM_001144933.1:c.553G>T, XM_011524380.2:c.397G>T, XM_011524380.1:c.397G>T, NP_775774.1:p.Ala133Ser, XP_011522683.2:p.Ala155Ser, NP_001138405.1:p.Ala185Ser, XP_011522682.1:p.Ala133Ser

Select item 14717866548.

rs1471786654 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:62413810 (GRCh38)
17:60491171 (GRCh37)
Canonical SPDI:: NC_000017.11:62413809:A:T
Gene:: EFCAB3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.62413810A>T, NC_000017.10:g.60491171A>T, NM_173503.4:c.946A>T, NM_173503.3:c.946A>T, XM_011524381.3:c.1012A>T, XM_011524381.2:c.1012A>T, XM_011524381.1:c.946A>T, NM_001144933.2:c.1102A>T, NM_001144933.1:c.1102A>T, XM_011524380.2:c.946A>T, XM_011524380.1:c.946A>T, NP_775774.1:p.Lys316Ter, XP_011522683.2:p.Lys338Ter, NP_001138405.1:p.Lys368Ter, XP_011522682.1:p.Lys316Ter

Select item 14707207939.

rs1470720793 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:62391907 (GRCh38)
17:60469268 (GRCh37)
Canonical SPDI:: NC_000017.11:62391906:G:A
Gene:: EFCAB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.62391907G>A, NC_000017.10:g.60469268G>A, NM_173503.4:c.237G>A, NM_173503.3:c.237G>A, XM_011524381.3:c.303G>A, XM_011524381.2:c.303G>A, XM_011524381.1:c.237G>A, NM_001144933.2:c.393G>A, NM_001144933.1:c.393G>A, XM_011524380.2:c.237G>A, XM_011524380.1:c.237G>A

Select item 147066558110.

rs1470665581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:62395145 (GRCh38)
17:60472506 (GRCh37)
Canonical SPDI:: NC_000017.11:62395144:G:C
Gene:: EFCAB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.62395145G>C, NC_000017.10:g.60472506G>C, NM_173503.4:c.445G>C, NM_173503.3:c.445G>C, XM_011524381.3:c.511G>C, XM_011524381.2:c.511G>C, XM_011524381.1:c.445G>C, NM_001144933.2:c.601G>C, NM_001144933.1:c.601G>C, XM_011524380.2:c.445G>C, XM_011524380.1:c.445G>C, NP_775774.1:p.Glu149Gln, XP_011522683.2:p.Glu171Gln, NP_001138405.1:p.Glu201Gln, XP_011522682.1:p.Glu149Gln

Select item 146524293111.

rs1465242931 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:62395125 (GRCh38)
17:60472486 (GRCh37)
Canonical SPDI:: NC_000017.11:62395124:A:C
Gene:: EFCAB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.62395125A>C, NC_000017.10:g.60472486A>C, NM_173503.4:c.425A>C, NM_173503.3:c.425A>C, XM_011524381.3:c.491A>C, XM_011524381.2:c.491A>C, XM_011524381.1:c.425A>C, NM_001144933.2:c.581A>C, NM_001144933.1:c.581A>C, XM_011524380.2:c.425A>C, XM_011524380.1:c.425A>C, NP_775774.1:p.Glu142Ala, XP_011522683.2:p.Glu164Ala, NP_001138405.1:p.Glu194Ala, XP_011522682.1:p.Glu142Ala

Select item 146386215512.

rs1463862155 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:62395132 (GRCh38)
17:60472493 (GRCh37)
Canonical SPDI:: NC_000017.11:62395131:A:G,NC_000017.11:62395131:A:T
Gene:: EFCAB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.62395132A>G, NC_000017.11:g.62395132A>T, NC_000017.10:g.60472493A>G, NC_000017.10:g.60472493A>T, NM_173503.4:c.432A>G, NM_173503.4:c.432A>T, NM_173503.3:c.432A>G, NM_173503.3:c.432A>T, XM_011524381.3:c.498A>G, XM_011524381.3:c.498A>T, XM_011524381.2:c.498A>G, XM_011524381.2:c.498A>T, XM_011524381.1:c.432A>G, XM_011524381.1:c.432A>T, NM_001144933.2:c.588A>G, NM_001144933.2:c.588A>T, NM_001144933.1:c.588A>G, NM_001144933.1:c.588A>T, XM_011524380.2:c.432A>G, XM_011524380.2:c.432A>T, XM_011524380.1:c.432A>G, XM_011524380.1:c.432A>T

Select item 146376269713.

rs1463762697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:62406601 (GRCh38)
17:60483962 (GRCh37)
Canonical SPDI:: NC_000017.11:62406600:G:T
Gene:: EFCAB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.62406601G>T, NC_000017.10:g.60483962G>T, NM_173503.4:c.610G>T, NM_173503.3:c.610G>T, XM_011524381.3:c.676G>T, XM_011524381.2:c.676G>T, XM_011524381.1:c.610G>T, NM_001144933.2:c.766G>T, NM_001144933.1:c.766G>T, XM_011524380.2:c.610G>T, XM_011524380.1:c.610G>T, NP_775774.1:p.Ala204Ser, XP_011522683.2:p.Ala226Ser, NP_001138405.1:p.Ala256Ser, XP_011522682.1:p.Ala204Ser

Select item 146292711014.

rs1462927110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:62395158 (GRCh38)
17:60472519 (GRCh37)
Canonical SPDI:: NC_000017.11:62395157:T:C
Gene:: EFCAB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000017.11:g.62395158T>C, NC_000017.10:g.60472519T>C, NM_173503.4:c.458T>C, NM_173503.3:c.458T>C, XM_011524381.3:c.524T>C, XM_011524381.2:c.524T>C, XM_011524381.1:c.458T>C, NM_001144933.2:c.614T>C, NM_001144933.1:c.614T>C, XM_011524380.2:c.458T>C, XM_011524380.1:c.458T>C, NP_775774.1:p.Leu153Pro, XP_011522683.2:p.Leu175Pro, NP_001138405.1:p.Leu205Pro, XP_011522682.1:p.Leu153Pro

Select item 145986839315.

rs1459868393 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:62395092 (GRCh38)
17:60472453 (GRCh37)
Canonical SPDI:: NC_000017.11:62395091:A:C
Gene:: EFCAB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.62395092A>C, NC_000017.10:g.60472453A>C, NM_173503.4:c.392A>C, NM_173503.3:c.392A>C, XM_011524381.3:c.458A>C, XM_011524381.2:c.458A>C, XM_011524381.1:c.392A>C, NM_001144933.2:c.548A>C, NM_001144933.1:c.548A>C, XM_011524380.2:c.392A>C, XM_011524380.1:c.392A>C, NP_775774.1:p.Asp131Ala, XP_011522683.2:p.Asp153Ala, NP_001138405.1:p.Asp183Ala, XP_011522682.1:p.Asp131Ala

Select item 145702022316.

rs1457020223 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:62406585 (GRCh38)
17:60483946 (GRCh37)
Canonical SPDI:: NC_000017.11:62406584:A:G
Gene:: EFCAB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.62406585A>G, NC_000017.10:g.60483946A>G, NM_173503.4:c.594A>G, NM_173503.3:c.594A>G, XM_011524381.3:c.660A>G, XM_011524381.2:c.660A>G, XM_011524381.1:c.594A>G, NM_001144933.2:c.750A>G, NM_001144933.1:c.750A>G, XM_011524380.2:c.594A>G, XM_011524380.1:c.594A>G

Select item 145450887417.

rs1454508874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:62406613 (GRCh38)
17:60483974 (GRCh37)
Canonical SPDI:: NC_000017.11:62406612:G:A
Gene:: EFCAB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000017.11:g.62406613G>A, NC_000017.10:g.60483974G>A, NM_173503.4:c.622G>A, NM_173503.3:c.622G>A, XM_011524381.3:c.688G>A, XM_011524381.2:c.688G>A, XM_011524381.1:c.622G>A, NM_001144933.2:c.778G>A, NM_001144933.1:c.778G>A, XM_011524380.2:c.622G>A, XM_011524380.1:c.622G>A, NP_775774.1:p.Ala208Thr, XP_011522683.2:p.Ala230Thr, NP_001138405.1:p.Ala260Thr, XP_011522682.1:p.Ala208Thr

Select item 145419291818.

rs1454192918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:62407070 (GRCh38)
17:60484431 (GRCh37)
Canonical SPDI:: NC_000017.11:62407069:T:C
Gene:: EFCAB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.62407070T>C, NC_000017.10:g.60484431T>C, NM_173503.4:c.725T>C, NM_173503.3:c.725T>C, XM_011524381.3:c.791T>C, XM_011524381.2:c.791T>C, XM_011524381.1:c.725T>C, NM_001144933.2:c.881T>C, NM_001144933.1:c.881T>C, XM_011524380.2:c.725T>C, XM_011524380.1:c.725T>C, NP_775774.1:p.Ile242Thr, XP_011522683.2:p.Ile264Thr, NP_001138405.1:p.Ile294Thr, XP_011522682.1:p.Ile242Thr

Select item 145020568419.

rs1450205684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:62413765 (GRCh38)
17:60491126 (GRCh37)
Canonical SPDI:: NC_000017.11:62413764:G:A
Gene:: EFCAB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.62413765G>A, NC_000017.10:g.60491126G>A, NM_173503.4:c.901G>A, NM_173503.3:c.901G>A, XM_011524381.3:c.967G>A, XM_011524381.2:c.967G>A, XM_011524381.1:c.901G>A, NM_001144933.2:c.1057G>A, NM_001144933.1:c.1057G>A, XM_011524380.2:c.901G>A, XM_011524380.1:c.901G>A, NP_775774.1:p.Gly301Ser, XP_011522683.2:p.Gly323Ser, NP_001138405.1:p.Gly353Ser, XP_011522682.1:p.Gly301Ser

Select item 144658167620.

rs1446581676 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:62416219 (GRCh38)
17:60493580 (GRCh37)
Canonical SPDI:: NC_000017.11:62416218:A:G
Gene:: EFCAB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.62416219A>G, NC_000017.10:g.60493580A>G, NM_173503.4:c.1207A>G, NM_173503.3:c.1207A>G, XM_011524381.3:c.1273A>G, XM_011524381.2:c.1273A>G, XM_011524381.1:c.1207A>G, NM_001144933.2:c.1363A>G, NM_001144933.1:c.1363A>G, XM_011524380.2:c.1207A>G, XM_011524380.1:c.1207A>G, NP_775774.1:p.Arg403Gly, XP_011522683.2:p.Arg425Gly, NP_001138405.1:p.Arg455Gly, XP_011522682.1:p.Arg403Gly

dbSNP

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