SNP Links for Protein (Select 1034651925) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106628935 (GRCh38)
6:107076810 (GRCh37)
Canonical SPDI:: NC_000006.12:106628934:T:C
Gene:: QRSL1 (Varview), RTN4IP1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.106628935T>C, NC_000006.11:g.107076810T>C, NG_047205.1:g.6566A>G, NM_032730.5:c.87A>G, NM_032730.4:c.87A>G, XM_017011376.3:c.87A>G, XM_017011376.2:c.87A>G, XM_017011376.1:c.87A>G

Select item 14631138038.

rs1463113803 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:106619281 (GRCh38)
6:107067156 (GRCh37)
Canonical SPDI:: NC_000006.12:106619279:AAA:A
Gene:: RTN4IP1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106619281_106619282del, NC_000006.11:g.107067156_107067157del, NG_047205.1:g.16220_16221del, NM_032730.5:c.541_542del, NM_032730.4:c.541_542del, NM_001318746.1:c.241_242del, XM_017011376.3:c.541_542del, XM_017011376.2:c.541_542del, XM_017011376.1:c.541_542del, XM_011536192.3:c.301_302del, XM_011536192.2:c.301_302del, XM_011536192.1:c.301_302del, NP_116119.2:p.Leu181fs, NP_001305675.1:p.Leu81fs, XP_016866865.1:p.Leu181fs, XP_011534494.1:p.Leu101fs

Select item 14606817689.

rs1460681768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:106619228 (GRCh38)
6:107067103 (GRCh37)
Canonical SPDI:: NC_000006.12:106619227:C:A
Gene:: RTN4IP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.106619228C>A, NC_000006.11:g.107067103C>A, NG_047205.1:g.16273G>T, NM_032730.5:c.594G>T, NM_032730.4:c.594G>T, NM_001318746.1:c.294G>T, XM_017011376.3:c.594G>T, XM_017011376.2:c.594G>T, XM_017011376.1:c.594G>T, XM_011536192.3:c.354G>T, XM_011536192.2:c.354G>T, XM_011536192.1:c.354G>T

Select item 145852495810.

rs1458524958 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106628848 (GRCh38)
6:107076723 (GRCh37)
Canonical SPDI:: NC_000006.12:106628847:T:C
Gene:: QRSL1 (Varview), RTN4IP1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106628848T>C, NC_000006.11:g.107076723T>C, NG_047205.1:g.6653A>G, NM_032730.5:c.174A>G, NM_032730.4:c.174A>G, XM_017011376.3:c.174A>G, XM_017011376.2:c.174A>G, XM_017011376.1:c.174A>G

Select item 145378396111.

rs1453783961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106583410 (GRCh38)
6:107031285 (GRCh37)
Canonical SPDI:: NC_000006.12:106583409:T:C
Gene:: RTN4IP1 (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_000006.12:g.106583410T>C, NC_000006.11:g.107031285T>C, NG_047205.1:g.52091A>G, NM_032730.5:c.1001A>G, NM_032730.4:c.1001A>G, NM_001318746.1:c.701A>G, XM_017011376.3:c.817A>G, XM_017011376.2:c.817A>G, XM_017011376.1:c.817A>G, XM_011536192.3:c.761A>G, XM_011536192.2:c.761A>G, XM_011536192.1:c.761A>G, NP_116119.2:p.Lys334Arg, NP_001305675.1:p.Lys234Arg, XP_016866865.1:p.Lys273Glu, XP_011534494.1:p.Lys254Arg

Select item 145317594912.

rs1453175949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106622920 (GRCh38)
6:107070795 (GRCh37)
Canonical SPDI:: NC_000006.12:106622919:C:T
Gene:: RTN4IP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106622920C>T, NC_000006.11:g.107070795C>T, NG_047205.1:g.12581G>A, NM_032730.5:c.324G>A, NM_032730.4:c.324G>A, NM_001318746.1:c.24G>A, XM_017011376.3:c.324G>A, XM_017011376.2:c.324G>A, XM_017011376.1:c.324G>A, XM_011536192.3:c.84G>A, XM_011536192.2:c.84G>A, XM_011536192.1:c.84G>A

Select item 145292291613.

rs1452922916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:106592272 (GRCh38)
6:107040147 (GRCh37)
Canonical SPDI:: NC_000006.12:106592271:G:A
Gene:: RTN4IP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.106592272G>A, NC_000006.11:g.107040147G>A, NG_047205.1:g.43229C>T, NM_032730.5:c.698C>T, NM_032730.4:c.698C>T, NM_001318746.1:c.398C>T, XM_017011376.3:c.698C>T, XM_017011376.2:c.698C>T, XM_017011376.1:c.698C>T, XM_011536192.3:c.458C>T, XM_011536192.2:c.458C>T, XM_011536192.1:c.458C>T, NP_116119.2:p.Thr233Ile, NP_001305675.1:p.Thr133Ile, XP_016866865.1:p.Thr233Ile, XP_011534494.1:p.Thr153Ile

Select item 145241626114.

rs1452416261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:106619285 (GRCh38)
6:107067160 (GRCh37)
Canonical SPDI:: NC_000006.12:106619284:G:A,NC_000006.12:106619284:G:C
Gene:: RTN4IP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.106619285G>A, NC_000006.12:g.106619285G>C, NC_000006.11:g.107067160G>A, NC_000006.11:g.107067160G>C, NG_047205.1:g.16216C>T, NG_047205.1:g.16216C>G, NM_032730.5:c.537C>T, NM_032730.5:c.537C>G, NM_032730.4:c.537C>T, NM_032730.4:c.537C>G, NM_001318746.1:c.237C>T, NM_001318746.1:c.237C>G, XM_017011376.3:c.537C>T, XM_017011376.3:c.537C>G, XM_017011376.2:c.537C>T, XM_017011376.2:c.537C>G, XM_017011376.1:c.537C>T, XM_017011376.1:c.537C>G, XM_011536192.3:c.297C>T, XM_011536192.3:c.297C>G, XM_011536192.2:c.297C>T, XM_011536192.2:c.297C>G, XM_011536192.1:c.297C>T, XM_011536192.1:c.297C>G

Select item 144971241215.

rs1449712412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:106619214 (GRCh38)
6:107067089 (GRCh37)
Canonical SPDI:: NC_000006.12:106619213:C:A
Gene:: RTN4IP1 (Varview)
Functional Consequence:: missense_variant,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_000006.12:g.106619214C>A, NC_000006.11:g.107067089C>A, NG_047205.1:g.16287G>T, NM_032730.5:c.608G>T, NM_032730.4:c.608G>T, NM_001318746.1:c.308G>T, XM_017011376.3:c.608G>T, XM_017011376.2:c.608G>T, XM_017011376.1:c.608G>T, XM_011536192.3:c.368G>T, XM_011536192.2:c.368G>T, XM_011536192.1:c.368G>T, NP_116119.2:p.Cys203Phe, NP_001305675.1:p.Cys103Phe, XP_016866865.1:p.Cys203Phe, XP_011534494.1:p.Cys123Phe

Select item 144727398516.

rs1447273985 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106619220 (GRCh38)
6:107067095 (GRCh37)
Canonical SPDI:: NC_000006.12:106619219:T:C
Gene:: RTN4IP1 (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_000006.12:g.106619220T>C, NC_000006.11:g.107067095T>C, NG_047205.1:g.16281A>G, NM_032730.5:c.602A>G, NM_032730.4:c.602A>G, NM_001318746.1:c.302A>G, XM_017011376.3:c.602A>G, XM_017011376.2:c.602A>G, XM_017011376.1:c.602A>G, XM_011536192.3:c.362A>G, XM_011536192.2:c.362A>G, XM_011536192.1:c.362A>G, NP_116119.2:p.Lys201Arg, NP_001305675.1:p.Lys101Arg, XP_016866865.1:p.Lys201Arg, XP_011534494.1:p.Lys121Arg

Select item 144373009217.

rs1443730092 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:106619229 (GRCh38)
6:107067104 (GRCh37)
Canonical SPDI:: NC_000006.12:106619228:A:C
Gene:: RTN4IP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106619229A>C, NC_000006.11:g.107067104A>C, NG_047205.1:g.16272T>G, NM_032730.5:c.593T>G, NM_032730.4:c.593T>G, NM_001318746.1:c.293T>G, XM_017011376.3:c.593T>G, XM_017011376.2:c.593T>G, XM_017011376.1:c.593T>G, XM_011536192.3:c.353T>G, XM_011536192.2:c.353T>G, XM_011536192.1:c.353T>G, NP_116119.2:p.Leu198Arg, NP_001305675.1:p.Leu98Arg, XP_016866865.1:p.Leu198Arg, XP_011534494.1:p.Leu118Arg

Select item 144332997018.

rs1443329970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106621426 (GRCh38)
6:107069301 (GRCh37)
Canonical SPDI:: NC_000006.12:106621425:T:C
Gene:: RTN4IP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106621426T>C, NC_000006.11:g.107069301T>C, NG_047205.1:g.14075A>G, NM_032730.5:c.494A>G, NM_032730.4:c.494A>G, NM_001318746.1:c.194A>G, XM_017011376.3:c.494A>G, XM_017011376.2:c.494A>G, XM_017011376.1:c.494A>G, XM_011536192.3:c.254A>G, XM_011536192.2:c.254A>G, XM_011536192.1:c.254A>G, NP_116119.2:p.Glu165Gly, NP_001305675.1:p.Glu65Gly, XP_016866865.1:p.Glu165Gly, XP_011534494.1:p.Glu85Gly

Select item 144117199219.

rs1441171992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106592252 (GRCh38)
6:107040127 (GRCh37)
Canonical SPDI:: NC_000006.12:106592251:C:T
Gene:: RTN4IP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.106592252C>T, NC_000006.11:g.107040127C>T, NG_047205.1:g.43249G>A, NM_032730.5:c.718G>A, NM_032730.4:c.718G>A, NM_001318746.1:c.418G>A, XM_017011376.3:c.718G>A, XM_017011376.2:c.718G>A, XM_017011376.1:c.718G>A, XM_011536192.3:c.478G>A, XM_011536192.2:c.478G>A, XM_011536192.1:c.478G>A, NP_116119.2:p.Ala240Thr, NP_001305675.1:p.Ala140Thr, XP_016866865.1:p.Ala240Thr, XP_011534494.1:p.Ala160Thr

Select item 143756482620.

rs1437564826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106628867 (GRCh38)
6:107076742 (GRCh37)
Canonical SPDI:: NC_000006.12:106628866:C:T
Gene:: QRSL1 (Varview), RTN4IP1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106628867C>T, NC_000006.11:g.107076742C>T, NG_047205.1:g.6634G>A, NM_032730.5:c.155G>A, NM_032730.4:c.155G>A, XM_017011376.3:c.155G>A, XM_017011376.2:c.155G>A, XM_017011376.1:c.155G>A, NP_116119.2:p.Gly52Glu, XP_016866865.1:p.Gly52Glu

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