SNP Links for Protein (Select 9506687) - SNP

Links from Protein

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Select item 14906610181.

rs1490661018 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCAGGGCAAGAGCTGCCACAGCGTGG>- [Show Flanks]
Chromosome:: 10:72274944 (GRCh38)
10:74034702 (GRCh37)
Canonical SPDI:: NC_000010.11:72274937:GCGTGGAGCAGGGCAAGAGCTGCCACAGCGTGG:GCGTGG
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: 2KB_upstream_variant,inframe_deletion,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72274944_72274970del, NC_000010.10:g.74034702_74034728del, NM_019058.4:c.455_481del, NM_019058.3:c.455_481del, NM_019058.2:c.455_481del, NP_061931.1:p.Glu152_Val160del

Select item 14903336442.

rs1490333644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72274242 (GRCh38)
10:74034000 (GRCh37)
Canonical SPDI:: NC_000010.11:72274241:C:T
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.72274242C>T, NC_000010.10:g.74034000C>T, NM_019058.4:c.26C>T, NM_019058.3:c.26C>T, NM_019058.2:c.26C>T, NP_061931.1:p.Ser9Leu

Select item 14866299373.

rs1486629937 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:72274820 (GRCh38)
10:74034578 (GRCh37)
Canonical SPDI:: NC_000010.11:72274819:T:C,NC_000010.11:72274819:T:G
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72274820T>C, NC_000010.11:g.72274820T>G, NC_000010.10:g.74034578T>C, NC_000010.10:g.74034578T>G, NM_019058.4:c.331T>C, NM_019058.4:c.331T>G, NM_019058.3:c.331T>C, NM_019058.3:c.331T>G, NM_019058.2:c.331T>C, NM_019058.2:c.331T>G, NP_061931.1:p.Ser111Pro, NP_061931.1:p.Ser111Ala

Select item 14833360364.

rs1483336036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72274719 (GRCh38)
10:74034477 (GRCh37)
Canonical SPDI:: NC_000010.11:72274718:C:T
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72274719C>T, NC_000010.10:g.74034477C>T, NM_019058.4:c.230C>T, NM_019058.3:c.230C>T, NM_019058.2:c.230C>T, NP_061931.1:p.Ser77Leu

Select item 14830325195.

rs1483032519 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 10:72274410 (GRCh38)
10:74034168 (GRCh37)
Canonical SPDI:: NC_000010.11:72274408:GGG:G
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.72274410_72274411del, NC_000010.10:g.74034168_74034169del, NM_019058.4:c.194_195del, NM_019058.3:c.194_195del, NM_019058.2:c.194_195del, NP_061931.1:p.Gly65fs

Select item 14828285116.

rs1482828511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72275161 (GRCh38)
10:74034919 (GRCh37)
Canonical SPDI:: NC_000010.11:72275160:G:A
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.72275161G>A, NC_000010.10:g.74034919G>A, NM_019058.4:c.672G>A, NM_019058.3:c.672G>A, NM_019058.2:c.672G>A

Select item 14756518657.

rs1475651865 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:72274806 (GRCh38)
10:74034564 (GRCh37)
Canonical SPDI:: NC_000010.11:72274805:A:G
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.72274806A>G, NC_000010.10:g.74034564A>G, NM_019058.4:c.317A>G, NM_019058.3:c.317A>G, NM_019058.2:c.317A>G, NP_061931.1:p.Gln106Arg

Select item 14715847928.

rs1471584792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72275014 (GRCh38)
10:74034772 (GRCh37)
Canonical SPDI:: NC_000010.11:72275013:G:A
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_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_000010.11:g.72275014G>A, NC_000010.10:g.74034772G>A, NM_019058.4:c.525G>A, NM_019058.3:c.525G>A, NM_019058.2:c.525G>A

Select item 14710195679.

rs1471019567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72274387 (GRCh38)
10:74034145 (GRCh37)
Canonical SPDI:: NC_000010.11:72274386:G:A
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72274387G>A, NC_000010.10:g.74034145G>A, NM_019058.4:c.171G>A, NM_019058.3:c.171G>A, NM_019058.2:c.171G>A

Select item 147095627210.

rs1470956272 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 10:72274969 (GRCh38)
10:74034727 (GRCh37)
Canonical SPDI:: NC_000010.11:72274968:GGG:GG
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72274971del, NC_000010.10:g.74034729del, NM_019058.4:c.482del, NM_019058.3:c.482del, NM_019058.2:c.482del, NP_061931.1:p.Gly161fs

Select item 146887782011.

rs1468877820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72274348 (GRCh38)
10:74034106 (GRCh37)
Canonical SPDI:: NC_000010.11:72274347:C:T
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72274348C>T, NC_000010.10:g.74034106C>T, NM_019058.4:c.132C>T, NM_019058.3:c.132C>T, NM_019058.2:c.132C>T

Select item 146792857312.

rs1467928573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:72274906 (GRCh38)
10:74034664 (GRCh37)
Canonical SPDI:: NC_000010.11:72274905:G:A,NC_000010.11:72274905:G:T
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72274906G>A, NC_000010.11:g.72274906G>T, NC_000010.10:g.74034664G>A, NC_000010.10:g.74034664G>T, NM_019058.4:c.417G>A, NM_019058.4:c.417G>T, NM_019058.3:c.417G>A, NM_019058.3:c.417G>T, NM_019058.2:c.417G>A, NM_019058.2:c.417G>T

Select item 146607027713.

rs1466070277 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:72274750 (GRCh38)
10:74034508 (GRCh37)
Canonical SPDI:: NC_000010.11:72274749:T:A
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72274750T>A, NC_000010.10:g.74034508T>A, NM_019058.4:c.261T>A, NM_019058.3:c.261T>A, NM_019058.2:c.261T>A

Select item 146059077814.

rs1460590778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72274356 (GRCh38)
10:74034114 (GRCh37)
Canonical SPDI:: NC_000010.11:72274355:C:T
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.72274356C>T, NC_000010.10:g.74034114C>T, NM_019058.4:c.140C>T, NM_019058.3:c.140C>T, NM_019058.2:c.140C>T, NP_061931.1:p.Thr47Met

Select item 146057350315.

rs1460573503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72275121 (GRCh38)
10:74034879 (GRCh37)
Canonical SPDI:: NC_000010.11:72275120:G:A
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72275121G>A, NC_000010.10:g.74034879G>A, NM_019058.4:c.632G>A, NM_019058.3:c.632G>A, NM_019058.2:c.632G>A, NP_061931.1:p.Ser211Asn

Select item 146013799616.

rs1460137996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:72274818 (GRCh38)
10:74034576 (GRCh37)
Canonical SPDI:: NC_000010.11:72274817:G:T
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72274818G>T, NC_000010.10:g.74034576G>T, NM_019058.4:c.329G>T, NM_019058.3:c.329G>T, NM_019058.2:c.329G>T, NP_061931.1:p.Gly110Val

Select item 145488803817.

rs1454888038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72275128 (GRCh38)
10:74034886 (GRCh37)
Canonical SPDI:: NC_000010.11:72275127:C:T
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.72275128C>T, NC_000010.10:g.74034886C>T, NM_019058.4:c.639C>T, NM_019058.3:c.639C>T, NM_019058.2:c.639C>T

Select item 145481583818.

rs1454815838 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:72274260 (GRCh38)
10:74034018 (GRCh37)
Canonical SPDI:: NC_000010.11:72274257:CTCT:CT
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.72274258CT[1], NC_000010.10:g.74034016CT[1], NM_019058.4:c.44_45del, NM_019058.3:c.44_45del, NM_019058.2:c.44_45del, NP_061931.1:p.Ser15fs

Select item 145471847519.

rs1454718475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72275132 (GRCh38)
10:74034890 (GRCh37)
Canonical SPDI:: NC_000010.11:72275131:C:T
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_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_000010.11:g.72275132C>T, NC_000010.10:g.74034890C>T, NM_019058.4:c.643C>T, NM_019058.3:c.643C>T, NM_019058.2:c.643C>T, NP_061931.1:p.Arg215Ter

Select item 144905490920.

rs1449054909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:72274887 (GRCh38)
10:74034645 (GRCh37)
Canonical SPDI:: NC_000010.11:72274886:G:A,NC_000010.11:72274886:G:T
Gene:: DDIT4 (Varview), LOC124902449 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72274887G>A, NC_000010.11:g.72274887G>T, NC_000010.10:g.74034645G>A, NC_000010.10:g.74034645G>T, NM_019058.4:c.398G>A, NM_019058.4:c.398G>T, NM_019058.3:c.398G>A, NM_019058.3:c.398G>T, NM_019058.2:c.398G>A, NM_019058.2:c.398G>T, NP_061931.1:p.Arg133His, NP_061931.1:p.Arg133Leu

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