SNP Links for Protein (Select 110349756) - SNP

Links from Protein

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Select item 14903369491.

rs1490336949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:36590942 (GRCh38)
2:36818085 (GRCh37)
Canonical SPDI:: NC_000002.12:36590941:C:T
Gene:: FEZ2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.36590942C>T, NC_000002.11:g.36818085C>T, XR_244972.4:n.362G>A, XR_244972.3:n.384G>A, XR_244972.2:n.384G>A, XR_244972.1:n.384G>A, NM_005102.3:c.336G>A, NM_005102.2:c.336G>A, NM_001042548.2:c.336G>A, NM_001042548.1:c.336G>A

Select item 14882238762.

rs1488223876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:36597982 (GRCh38)
2:36825125 (GRCh37)
Canonical SPDI:: NC_000002.12:36597981:A:T
Gene:: FEZ2 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.36597982A>T, NC_000002.11:g.36825125A>T, XR_244972.4:n.187T>A, XR_244972.3:n.209T>A, XR_244972.2:n.209T>A, XR_244972.1:n.209T>A, NM_005102.3:c.161T>A, NM_005102.2:c.161T>A, NM_001042548.2:c.161T>A, NM_001042548.1:c.161T>A, NP_005093.2:p.Leu54Ter, NP_001036013.1:p.Leu54Ter

Select item 14876096823.

rs1487609682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:36598109 (GRCh38)
2:36825252 (GRCh37)
Canonical SPDI:: NC_000002.12:36598108:C:T
Gene:: FEZ2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.36598109C>T, NC_000002.11:g.36825252C>T, XR_244972.4:n.60G>A, XR_244972.3:n.82G>A, XR_244972.2:n.82G>A, XR_244972.1:n.82G>A, NM_005102.3:c.34G>A, NM_005102.2:c.34G>A, NM_001042548.2:c.34G>A, NM_001042548.1:c.34G>A, NP_005093.2:p.Glu12Lys, NP_001036013.1:p.Glu12Lys

Select item 14868050714.

rs1486805071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:36598121 (GRCh38)
2:36825264 (GRCh37)
Canonical SPDI:: NC_000002.12:36598120:G:A
Gene:: FEZ2 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,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_000002.12:g.36598121G>A, NC_000002.11:g.36825264G>A, XR_244972.4:n.48C>T, XR_244972.3:n.70C>T, XR_244972.2:n.70C>T, XR_244972.1:n.70C>T, NM_005102.3:c.22C>T, NM_005102.2:c.22C>T, NM_001042548.2:c.22C>T, NM_001042548.1:c.22C>T, NP_005093.2:p.Gln8Ter, NP_001036013.1:p.Gln8Ter

Select item 14851361815.

rs1485136181 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:36598075 (GRCh38)
2:36825218 (GRCh37)
Canonical SPDI:: NC_000002.12:36598074:T:C,NC_000002.12:36598074:T:G
Gene:: FEZ2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.36598075T>C, NC_000002.12:g.36598075T>G, NC_000002.11:g.36825218T>C, NC_000002.11:g.36825218T>G, XR_244972.4:n.94A>G, XR_244972.4:n.94A>C, XR_244972.3:n.116A>G, XR_244972.3:n.116A>C, XR_244972.2:n.116A>G, XR_244972.2:n.116A>C, XR_244972.1:n.116A>G, XR_244972.1:n.116A>C, NM_005102.3:c.68A>G, NM_005102.3:c.68A>C, NM_005102.2:c.68A>G, NM_005102.2:c.68A>C, NM_001042548.2:c.68A>G, NM_001042548.2:c.68A>C, NM_001042548.1:c.68A>G, NM_001042548.1:c.68A>C, NP_005093.2:p.Gln23Arg, NP_005093.2:p.Gln23Pro, NP_001036013.1:p.Gln23Arg, NP_001036013.1:p.Gln23Pro

Select item 14810777956.

rs1481077795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:36558448 (GRCh38)
2:36785591 (GRCh37)
Canonical SPDI:: NC_000002.12:36558447:T:C
Gene:: FEZ2 (Varview)
Functional Consequence:: intron_variant,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)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.36558448T>C, NC_000002.11:g.36785591T>C, NM_005102.3:c.969A>G, NM_005102.2:c.969A>G, NM_001042548.2:c.1050A>G, NM_001042548.1:c.1050A>G, NP_005093.2:p.Ile323Met, NP_001036013.1:p.Ile350Met

Select item 14799067917.

rs1479906791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:36598057 (GRCh38)
2:36825200 (GRCh37)
Canonical SPDI:: NC_000002.12:36598056:C:A,NC_000002.12:36598056:C:T
Gene:: FEZ2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.36598057C>A, NC_000002.12:g.36598057C>T, NC_000002.11:g.36825200C>A, NC_000002.11:g.36825200C>T, XR_244972.4:n.112G>T, XR_244972.4:n.112G>A, XR_244972.3:n.134G>T, XR_244972.3:n.134G>A, XR_244972.2:n.134G>T, XR_244972.2:n.134G>A, XR_244972.1:n.134G>T, XR_244972.1:n.134G>A, NM_005102.3:c.86G>T, NM_005102.3:c.86G>A, NM_005102.2:c.86G>T, NM_005102.2:c.86G>A, NM_001042548.2:c.86G>T, NM_001042548.2:c.86G>A, NM_001042548.1:c.86G>T, NM_001042548.1:c.86G>A, NP_005093.2:p.Ser29Ile, NP_005093.2:p.Ser29Asn, NP_001036013.1:p.Ser29Ile, NP_001036013.1:p.Ser29Asn

Select item 14771153608.

rs1477115360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:36598053 (GRCh38)
2:36825196 (GRCh37)
Canonical SPDI:: NC_000002.12:36598052:G:A,NC_000002.12:36598052:G:C
Gene:: FEZ2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000035/4 (GnomAD)
HGVS:: NC_000002.12:g.36598053G>A, NC_000002.12:g.36598053G>C, NC_000002.11:g.36825196G>A, NC_000002.11:g.36825196G>C, XR_244972.4:n.116C>T, XR_244972.4:n.116C>G, XR_244972.3:n.138C>T, XR_244972.3:n.138C>G, XR_244972.2:n.138C>T, XR_244972.2:n.138C>G, XR_244972.1:n.138C>T, XR_244972.1:n.138C>G, NM_005102.3:c.90C>T, NM_005102.3:c.90C>G, NM_005102.2:c.90C>T, NM_005102.2:c.90C>G, NM_001042548.2:c.90C>T, NM_001042548.2:c.90C>G, NM_001042548.1:c.90C>T, NM_001042548.1:c.90C>G

Select item 14744620969.

rs1474462096 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:36598111 (GRCh38)
2:36825254 (GRCh37)
Canonical SPDI:: NC_000002.12:36598109:ATA:A
Gene:: FEZ2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.36598111_36598112del, NC_000002.11:g.36825254_36825255del, XR_244972.4:n.58_59del, XR_244972.3:n.80_81del, XR_244972.2:n.80_81del, XR_244972.1:n.80_81del, NM_005102.3:c.32_33del, NM_005102.2:c.32_33del, NM_001042548.2:c.32_33del, NM_001042548.1:c.32_33del, NP_005093.2:p.Phe10_Tyr11insTer, NP_001036013.1:p.Phe10_Tyr11insTer

Select item 147385601310.

rs1473856013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:36558512 (GRCh38)
2:36785655 (GRCh37)
Canonical SPDI:: NC_000002.12:36558511:T:A,NC_000002.12:36558511:T:C
Gene:: FEZ2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000016/2 (GnomAD_exomes)
A=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.36558512T>A, NC_000002.12:g.36558512T>C, NC_000002.11:g.36785655T>A, NC_000002.11:g.36785655T>C, NM_005102.3:c.905A>T, NM_005102.3:c.905A>G, NM_005102.2:c.905A>T, NM_005102.2:c.905A>G, NM_001042548.2:c.986A>T, NM_001042548.2:c.986A>G, NM_001042548.1:c.986A>T, NM_001042548.1:c.986A>G, NP_005093.2:p.Tyr302Phe, NP_005093.2:p.Tyr302Cys, NP_001036013.1:p.Tyr329Phe, NP_001036013.1:p.Tyr329Cys

Select item 147159956211.

rs1471599562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:36555746 (GRCh38)
2:36782889 (GRCh37)
Canonical SPDI:: NC_000002.12:36555745:G:C
Gene:: FEZ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.36555746G>C, NC_000002.11:g.36782889G>C, XR_244972.4:n.932C>G, XR_244972.3:n.954C>G, XR_244972.2:n.954C>G, XR_244972.1:n.954C>G, NM_005102.3:c.982C>G, NM_005102.2:c.982C>G, NM_001042548.2:c.1063C>G, NM_001042548.1:c.1063C>G, NP_005093.2:p.Leu328Val, NP_001036013.1:p.Leu355Val

Select item 146981236412.

rs1469812364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:36578820 (GRCh38)
2:36805963 (GRCh37)
Canonical SPDI:: NC_000002.12:36578819:T:G
Gene:: FEZ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.36578820T>G, NC_000002.11:g.36805963T>G, XR_244972.4:n.706A>C, XR_244972.3:n.728A>C, XR_244972.2:n.728A>C, XR_244972.1:n.728A>C, NM_005102.3:c.680A>C, NM_005102.2:c.680A>C, NM_001042548.2:c.680A>C, NM_001042548.1:c.680A>C, NP_005093.2:p.Glu227Ala, NP_001036013.1:p.Glu227Ala

Select item 146979366513.

rs1469793665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:36597973 (GRCh38)
2:36825116 (GRCh37)
Canonical SPDI:: NC_000002.12:36597972:T:A
Gene:: FEZ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.36597973T>A, NC_000002.11:g.36825116T>A, XR_244972.4:n.196A>T, XR_244972.3:n.218A>T, XR_244972.2:n.218A>T, XR_244972.1:n.218A>T, NM_005102.3:c.170A>T, NM_005102.2:c.170A>T, NM_001042548.2:c.170A>T, NM_001042548.1:c.170A>T, NP_005093.2:p.Lys57Met, NP_001036013.1:p.Lys57Met

Select item 146642118814.

rs1466421188 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 2:36598065 (GRCh38)
2:36825208 (GRCh37)
Canonical SPDI:: NC_000002.12:36598064:A:C,NC_000002.12:36598064:A:G,NC_000002.12:36598064:A:T
Gene:: FEZ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000008/1 (GnomAD)
G=0.00001/1 (GnomAD_exomes)
T=0.000569/1 (Korea1K)
HGVS:: NC_000002.12:g.36598065A>C, NC_000002.12:g.36598065A>G, NC_000002.12:g.36598065A>T, NC_000002.11:g.36825208A>C, NC_000002.11:g.36825208A>G, NC_000002.11:g.36825208A>T, XR_244972.4:n.104T>G, XR_244972.4:n.104T>C, XR_244972.4:n.104T>A, XR_244972.3:n.126T>G, XR_244972.3:n.126T>C, XR_244972.3:n.126T>A, XR_244972.2:n.126T>G, XR_244972.2:n.126T>C, XR_244972.2:n.126T>A, XR_244972.1:n.126T>G, XR_244972.1:n.126T>C, XR_244972.1:n.126T>A, NM_005102.3:c.78T>G, NM_005102.3:c.78T>C, NM_005102.3:c.78T>A, NM_005102.2:c.78T>G, NM_005102.2:c.78T>C, NM_005102.2:c.78T>A, NM_001042548.2:c.78T>G, NM_001042548.2:c.78T>C, NM_001042548.2:c.78T>A, NM_001042548.1:c.78T>G, NM_001042548.1:c.78T>C, NM_001042548.1:c.78T>A, NP_005093.2:p.Cys26Trp, NP_005093.2:p.Cys26Ter, NP_001036013.1:p.Cys26Trp, NP_001036013.1:p.Cys26Ter

Select item 146492475415.

rs1464924754 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:36555734 (GRCh38)
2:36782877 (GRCh37)
Canonical SPDI:: NC_000002.12:36555733:T:C
Gene:: FEZ2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.36555734T>C, NC_000002.11:g.36782877T>C, XR_244972.4:n.944A>G, XR_244972.3:n.966A>G, XR_244972.2:n.966A>G, XR_244972.1:n.966A>G, NM_005102.3:c.994A>G, NM_005102.2:c.994A>G, NM_001042548.2:c.1075A>G, NM_001042548.1:c.1075A>G, NP_005093.2:p.Lys332Glu, NP_001036013.1:p.Lys359Glu

Select item 146415970616.

rs1464159706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:36581398 (GRCh38)
2:36808541 (GRCh37)
Canonical SPDI:: NC_000002.12:36581397:A:T
Gene:: FEZ2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.36581398A>T, NC_000002.11:g.36808541A>T, XR_244972.4:n.552T>A, XR_244972.3:n.574T>A, XR_244972.2:n.574T>A, XR_244972.1:n.574T>A, NM_005102.3:c.526T>A, NM_005102.2:c.526T>A, NM_001042548.2:c.526T>A, NM_001042548.1:c.526T>A, NP_005093.2:p.Ser176Thr, NP_001036013.1:p.Ser176Thr

Select item 146366554717.

rs1463665547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:36598024 (GRCh38)
2:36825167 (GRCh37)
Canonical SPDI:: NC_000002.12:36598023:G:C
Gene:: FEZ2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.00179/8 (Estonian)
C=0.01139/20 (Korea1K)
C=0.03746/627 (TOMMO)
HGVS:: NC_000002.12:g.36598024G>C, NC_000002.11:g.36825167G>C, XR_244972.4:n.145C>G, XR_244972.3:n.167C>G, XR_244972.2:n.167C>G, XR_244972.1:n.167C>G, NM_005102.3:c.119C>G, NM_005102.2:c.119C>G, NM_001042548.2:c.119C>G, NM_001042548.1:c.119C>G, NP_005093.2:p.Ala40Gly, NP_001036013.1:p.Ala40Gly

Select item 146282243218.

rs1462822432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:36583454 (GRCh38)
2:36810597 (GRCh37)
Canonical SPDI:: NC_000002.12:36583453:G:C
Gene:: FEZ2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.36583454G>C, NC_000002.11:g.36810597G>C, XR_244972.4:n.417C>G, XR_244972.3:n.439C>G, XR_244972.2:n.439C>G, XR_244972.1:n.439C>G, NM_005102.3:c.391C>G, NM_005102.2:c.391C>G, NM_001042548.2:c.391C>G, NM_001042548.1:c.391C>G, NP_005093.2:p.Leu131Val, NP_001036013.1:p.Leu131Val

Select item 146265738919.

rs1462657389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:36578798 (GRCh38)
2:36805941 (GRCh37)
Canonical SPDI:: NC_000002.12:36578797:C:G,NC_000002.12:36578797:C:T
Gene:: FEZ2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.36578798C>G, NC_000002.12:g.36578798C>T, NC_000002.11:g.36805941C>G, NC_000002.11:g.36805941C>T, XR_244972.4:n.728G>C, XR_244972.4:n.728G>A, XR_244972.3:n.750G>C, XR_244972.3:n.750G>A, XR_244972.2:n.750G>C, XR_244972.2:n.750G>A, XR_244972.1:n.750G>C, XR_244972.1:n.750G>A, NM_005102.3:c.702G>C, NM_005102.3:c.702G>A, NM_005102.2:c.702G>C, NM_005102.2:c.702G>A, NM_001042548.2:c.702G>C, NM_001042548.2:c.702G>A, NM_001042548.1:c.702G>C, NM_001042548.1:c.702G>A, NP_005093.2:p.Glu234Asp, NP_001036013.1:p.Glu234Asp

Select item 146207373620.

rs1462073736 [Homo sapiens]

Variant type:: DEL
Alleles:: TTCCTGGGAAA>- [Show Flanks]
Chromosome:: 2:36581333 (GRCh38)
2:36808476 (GRCh37)
Canonical SPDI:: NC_000002.12:36581332:TTCCTGGGAAA:
Gene:: FEZ2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.36581333_36581343del, NC_000002.11:g.36808476_36808486del, XR_244972.4:n.607_617del, XR_244972.3:n.629_639del, XR_244972.2:n.629_639del, XR_244972.1:n.629_639del, NM_005102.3:c.581_591del, NM_005102.2:c.581_591del, NM_001042548.2:c.581_591del, NM_001042548.1:c.581_591del, NP_005093.2:p.Leu194fs, NP_001036013.1:p.Leu194fs

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