SNP Links for Protein (Select 4826724) - SNP

Links from Protein

Items: 1 to 20 of 322

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Select item 14879669411.

rs1487966941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:125455957 (GRCh38)
11:125325853 (GRCh37)
Canonical SPDI:: NC_000011.10:125455956:C:A,NC_000011.10:125455956:C:G
Gene:: FEZ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
A=0.000685/2 (KOREAN)
HGVS:: NC_000011.10:g.125455957C>A, NC_000011.10:g.125455957C>G, NC_000011.9:g.125325853C>A, NC_000011.9:g.125325853C>G, NM_005103.5:c.817G>T, NM_005103.5:c.817G>C, NM_005103.4:c.817G>T, NM_005103.4:c.817G>C, XM_005271735.3:c.817G>T, XM_005271735.3:c.817G>C, XM_005271735.2:c.817G>T, XM_005271735.2:c.817G>C, XM_005271735.1:c.817G>T, XM_005271735.1:c.817G>C, XM_005271734.3:c.817G>T, XM_005271734.3:c.817G>C, XM_005271734.2:c.817G>T, XM_005271734.2:c.817G>C, XM_005271734.1:c.817G>T, XM_005271734.1:c.817G>C, NP_005094.1:p.Val273Leu, NP_005094.1:p.Val273Leu, XP_005271792.1:p.Val273Leu, XP_005271792.1:p.Val273Leu, XP_005271791.1:p.Val273Leu, XP_005271791.1:p.Val273Leu

Select item 14850843612.

rs1485084361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:125481564 (GRCh38)
11:125351460 (GRCh37)
Canonical SPDI:: NC_000011.10:125481563:C:T
Gene:: FEZ1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.125481564C>T, NC_000011.9:g.125351460C>T, NM_005103.5:c.381G>A, NM_005103.4:c.381G>A, XM_005271735.3:c.381G>A, XM_005271735.2:c.381G>A, XM_005271735.1:c.381G>A, XM_005271734.3:c.381G>A, XM_005271734.2:c.381G>A, XM_005271734.1:c.381G>A

Select item 14806960743.

rs1480696074 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:125489643 (GRCh38)
11:125359539 (GRCh37)
Canonical SPDI:: NC_000011.10:125489642:C:A
Gene:: FEZ1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.125489643C>A, NC_000011.9:g.125359539C>A, NM_005103.5:c.135G>T, NM_005103.4:c.135G>T, NM_022549.4:c.135G>T, NM_022549.3:c.135G>T, XM_005271735.3:c.135G>T, XM_005271735.2:c.135G>T, XM_005271735.1:c.135G>T, XM_005271734.3:c.135G>T, XM_005271734.2:c.135G>T, XM_005271734.1:c.135G>T, NP_005094.1:p.Glu45Asp, NP_072043.1:p.Glu45Asp, XP_005271792.1:p.Glu45Asp, XP_005271791.1:p.Glu45Asp

Select item 14790933774.

rs1479093377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:125454143 (GRCh38)
11:125324039 (GRCh37)
Canonical SPDI:: NC_000011.10:125454142:C:T
Gene:: FEZ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00007/1 (TOMMO)
HGVS:: NC_000011.10:g.125454143C>T, NC_000011.9:g.125324039C>T, NM_005103.5:c.1007G>A, NM_005103.4:c.1007G>A, XM_005271735.3:c.1007G>A, XM_005271735.2:c.1007G>A, XM_005271735.1:c.1007G>A, XM_005271734.3:c.1007G>A, XM_005271734.2:c.1007G>A, XM_005271734.1:c.1007G>A, NP_005094.1:p.Gly336Glu, XP_005271792.1:p.Gly336Glu, XP_005271791.1:p.Gly336Glu

Select item 14623133445.

rs1462313344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:125463548 (GRCh38)
11:125333444 (GRCh37)
Canonical SPDI:: NC_000011.10:125463547:T:C
Gene:: FEZ1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.125463548T>C, NC_000011.9:g.125333444T>C, NM_005103.5:c.434A>G, NM_005103.4:c.434A>G, XM_005271735.3:c.434A>G, XM_005271735.2:c.434A>G, XM_005271735.1:c.434A>G, XM_005271734.3:c.434A>G, XM_005271734.2:c.434A>G, XM_005271734.1:c.434A>G, NP_005094.1:p.Glu145Gly, XP_005271792.1:p.Glu145Gly, XP_005271791.1:p.Glu145Gly

Select item 14600768576.

rs1460076857 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:125460663 (GRCh38)
11:125330559 (GRCh37)
Canonical SPDI:: NC_000011.10:125460662:T:C
Gene:: FEZ1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.125460663T>C, NC_000011.9:g.125330559T>C, NM_005103.5:c.502A>G, NM_005103.4:c.502A>G, XM_005271735.3:c.502A>G, XM_005271735.2:c.502A>G, XM_005271735.1:c.502A>G, XM_005271734.3:c.502A>G, XM_005271734.2:c.502A>G, XM_005271734.1:c.502A>G, NP_005094.1:p.Ile168Val, XP_005271792.1:p.Ile168Val, XP_005271791.1:p.Ile168Val

Select item 14589824507.

rs1458982450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:125489760 (GRCh38)
11:125359656 (GRCh37)
Canonical SPDI:: NC_000011.10:125489759:C:T
Gene:: FEZ1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.125489760C>T, NC_000011.9:g.125359656C>T, NM_005103.5:c.18G>A, NM_005103.4:c.18G>A, NM_022549.4:c.18G>A, NM_022549.3:c.18G>A, XM_005271735.3:c.18G>A, XM_005271735.2:c.18G>A, XM_005271735.1:c.18G>A, XM_005271734.3:c.18G>A, XM_005271734.2:c.18G>A, XM_005271734.1:c.18G>A

Select item 14549917628.

rs1454991762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:125463527 (GRCh38)
11:125333423 (GRCh37)
Canonical SPDI:: NC_000011.10:125463526:T:C
Gene:: FEZ1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_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_000011.10:g.125463527T>C, NC_000011.9:g.125333423T>C, NM_005103.5:c.455A>G, NM_005103.4:c.455A>G, XM_005271735.3:c.455A>G, XM_005271735.2:c.455A>G, XM_005271735.1:c.455A>G, XM_005271734.3:c.455A>G, XM_005271734.2:c.455A>G, XM_005271734.1:c.455A>G, NP_005094.1:p.Asn152Ser, XP_005271792.1:p.Asn152Ser, XP_005271791.1:p.Asn152Ser

Select item 14495611549.

rs1449561154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:125446111 (GRCh38)
11:125316007 (GRCh37)
Canonical SPDI:: NC_000011.10:125446110:A:G
Gene:: FEZ1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.125446111A>G, NC_000011.9:g.125316007A>G, NM_005103.5:c.1163T>C, NM_005103.4:c.1163T>C, XM_005271735.3:c.1163T>C, XM_005271735.2:c.1163T>C, XM_005271735.1:c.1163T>C, XM_005271734.3:c.1163T>C, XM_005271734.2:c.1163T>C, XM_005271734.1:c.1163T>C, NP_005094.1:p.Val388Ala, XP_005271792.1:p.Val388Ala, XP_005271791.1:p.Val388Ala

Select item 144844696510.

rs1448446965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:125452374 (GRCh38)
11:125322270 (GRCh37)
Canonical SPDI:: NC_000011.10:125452373:G:A
Gene:: FEZ1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.125452374G>A, NC_000011.9:g.125322270G>A, NM_005103.5:c.1056C>T, NM_005103.4:c.1056C>T, XM_005271735.3:c.1056C>T, XM_005271735.2:c.1056C>T, XM_005271735.1:c.1056C>T, XM_005271734.3:c.1056C>T, XM_005271734.2:c.1056C>T, XM_005271734.1:c.1056C>T

Select item 144670705711.

rs1446707057 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:125463521 (GRCh38)
11:125333418 (GRCh37)
Canonical SPDI:: NC_000011.10:125463521:AA:AAA
Gene:: FEZ1 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.00008/1 (GoESP)
HGVS:: NC_000011.10:g.125463523dup, NC_000011.9:g.125333419dup, NM_005103.5:c.460dup, NM_005103.4:c.460dup, XM_005271735.3:c.460dup, XM_005271735.2:c.460dup, XM_005271735.1:c.460dup, XM_005271734.3:c.460dup, XM_005271734.2:c.460dup, XM_005271734.1:c.460dup, NP_005094.1:p.Ser154fs, XP_005271792.1:p.Ser154fs, XP_005271791.1:p.Ser154fs

Select item 144670355912.

rs1446703559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:125460542 (GRCh38)
11:125330438 (GRCh37)
Canonical SPDI:: NC_000011.10:125460541:A:C,NC_000011.10:125460541:A:G
Gene:: FEZ1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.125460542A>C, NC_000011.10:g.125460542A>G, NC_000011.9:g.125330438A>C, NC_000011.9:g.125330438A>G, NM_005103.5:c.623T>G, NM_005103.5:c.623T>C, NM_005103.4:c.623T>G, NM_005103.4:c.623T>C, XM_005271735.3:c.623T>G, XM_005271735.3:c.623T>C, XM_005271735.2:c.623T>G, XM_005271735.2:c.623T>C, XM_005271735.1:c.623T>G, XM_005271735.1:c.623T>C, XM_005271734.3:c.623T>G, XM_005271734.3:c.623T>C, XM_005271734.2:c.623T>G, XM_005271734.2:c.623T>C, XM_005271734.1:c.623T>G, XM_005271734.1:c.623T>C, NP_005094.1:p.Met208Arg, NP_005094.1:p.Met208Thr, XP_005271792.1:p.Met208Arg, XP_005271792.1:p.Met208Thr, XP_005271791.1:p.Met208Arg, XP_005271791.1:p.Met208Thr

Select item 144619361413.

rs1446193614 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:125460659 (GRCh38)
11:125330555 (GRCh37)
Canonical SPDI:: NC_000011.10:125460658:T:G
Gene:: FEZ1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000032/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.125460659T>G, NC_000011.9:g.125330555T>G, NM_005103.5:c.506A>C, NM_005103.4:c.506A>C, XM_005271735.3:c.506A>C, XM_005271735.2:c.506A>C, XM_005271735.1:c.506A>C, XM_005271734.3:c.506A>C, XM_005271734.2:c.506A>C, XM_005271734.1:c.506A>C, NP_005094.1:p.Glu169Ala, XP_005271792.1:p.Glu169Ala, XP_005271791.1:p.Glu169Ala

Select item 144464864614.

rs1444648646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:125463518 (GRCh38)
11:125333414 (GRCh37)
Canonical SPDI:: NC_000011.10:125463517:C:T
Gene:: FEZ1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_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_000011.10:g.125463518C>T, NC_000011.9:g.125333414C>T, NM_005103.5:c.464G>A, NM_005103.4:c.464G>A, XM_005271735.3:c.464G>A, XM_005271735.2:c.464G>A, XM_005271735.1:c.464G>A, XM_005271734.3:c.464G>A, XM_005271734.2:c.464G>A, XM_005271734.1:c.464G>A, NP_005094.1:p.Gly155Asp, XP_005271792.1:p.Gly155Asp, XP_005271791.1:p.Gly155Asp

Select item 144022237115.

rs1440222371 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:125460633 (GRCh38)
11:125330529 (GRCh37)
Canonical SPDI:: NC_000011.10:125460632:A:G
Gene:: FEZ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.125460633A>G, NC_000011.9:g.125330529A>G, NM_005103.5:c.532T>C, NM_005103.4:c.532T>C, XM_005271735.3:c.532T>C, XM_005271735.2:c.532T>C, XM_005271735.1:c.532T>C, XM_005271734.3:c.532T>C, XM_005271734.2:c.532T>C, XM_005271734.1:c.532T>C, NP_005094.1:p.Ser178Pro, XP_005271792.1:p.Ser178Pro, XP_005271791.1:p.Ser178Pro

Select item 143488408416.

rs1434884084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:125481623 (GRCh38)
11:125351519 (GRCh37)
Canonical SPDI:: NC_000011.10:125481622:C:T
Gene:: FEZ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.125481623C>T, NC_000011.9:g.125351519C>T, NM_005103.5:c.322G>A, NM_005103.4:c.322G>A, XM_005271735.3:c.322G>A, XM_005271735.2:c.322G>A, XM_005271735.1:c.322G>A, XM_005271734.3:c.322G>A, XM_005271734.2:c.322G>A, XM_005271734.1:c.322G>A, NP_005094.1:p.Ala108Thr, XP_005271792.1:p.Ala108Thr, XP_005271791.1:p.Ala108Thr

Select item 143294716317.

rs1432947163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:125489724 (GRCh38)
11:125359620 (GRCh37)
Canonical SPDI:: NC_000011.10:125489723:G:A
Gene:: FEZ1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.125489724G>A, NC_000011.9:g.125359620G>A, NM_005103.5:c.54C>T, NM_005103.4:c.54C>T, NM_022549.4:c.54C>T, NM_022549.3:c.54C>T, XM_005271735.3:c.54C>T, XM_005271735.2:c.54C>T, XM_005271735.1:c.54C>T, XM_005271734.3:c.54C>T, XM_005271734.2:c.54C>T, XM_005271734.1:c.54C>T

Select item 143259952018.

rs1432599520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:125456078 (GRCh38)
11:125325974 (GRCh37)
Canonical SPDI:: NC_000011.10:125456077:C:T
Gene:: FEZ1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.125456078C>T, NC_000011.9:g.125325974C>T, NM_005103.5:c.696G>A, NM_005103.4:c.696G>A, XM_005271735.3:c.696G>A, XM_005271735.2:c.696G>A, XM_005271735.1:c.696G>A, XM_005271734.3:c.696G>A, XM_005271734.2:c.696G>A, XM_005271734.1:c.696G>A

Select item 143157628519.

rs1431576285 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:125489751 (GRCh38)
11:125359647 (GRCh37)
Canonical SPDI:: NC_000011.10:125489750:A:T
Gene:: FEZ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.125489751A>T, NC_000011.9:g.125359647A>T, NM_005103.5:c.27T>A, NM_005103.4:c.27T>A, NM_022549.4:c.27T>A, NM_022549.3:c.27T>A, XM_005271735.3:c.27T>A, XM_005271735.2:c.27T>A, XM_005271735.1:c.27T>A, XM_005271734.3:c.27T>A, XM_005271734.2:c.27T>A, XM_005271734.1:c.27T>A, NP_005094.1:p.Asp9Glu, NP_072043.1:p.Asp9Glu, XP_005271792.1:p.Asp9Glu, XP_005271791.1:p.Asp9Glu

Select item 143077405420.

rs1430774054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:125455987 (GRCh38)
11:125325883 (GRCh37)
Canonical SPDI:: NC_000011.10:125455986:C:G
Gene:: FEZ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.125455987C>G, NC_000011.9:g.125325883C>G, NM_005103.5:c.787G>C, NM_005103.4:c.787G>C, XM_005271735.3:c.787G>C, XM_005271735.2:c.787G>C, XM_005271735.1:c.787G>C, XM_005271734.3:c.787G>C, XM_005271734.2:c.787G>C, XM_005271734.1:c.787G>C, NP_005094.1:p.Glu263Gln, XP_005271792.1:p.Glu263Gln, XP_005271791.1:p.Glu263Gln

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