SNP Links for Protein (Select 145386559) - SNP

Links from Protein

Items: 1 to 20 of 50

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Select item 14490667051.

rs1449066705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:23971361 (GRCh38)
22:24313550 (GRCh37)
Canonical SPDI:: NC_000022.11:23971360:G:A,NC_000022.11:23971360:G:T
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.23971361G>A, NC_000022.11:g.23971361G>T, NT_187633.1:g.207725G>A, NT_187633.1:g.207725G>T, NC_000022.10:g.24313550G>A, NC_000022.10:g.24313550G>T, NM_001084393.2:c.360G>A, NM_001084393.2:c.360G>T, NM_001084393.1:c.360G>A, NM_001084393.1:c.360G>T, NP_001077862.1:p.Lys120Asn

Select item 14355693712.

rs1435569371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:23971287 (GRCh38)
22:24313476 (GRCh37)
Canonical SPDI:: NC_000022.11:23971286:T:C
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.23971287T>C, NT_187633.1:g.207651T>C, NC_000022.10:g.24313476T>C, NM_001084393.2:c.286T>C, NM_001084393.1:c.286T>C, NP_001077862.1:p.Phe96Leu

Select item 14312943993.

rs1431294399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:23971344 (GRCh38)
22:24313533 (GRCh37)
Canonical SPDI:: NC_000022.11:23971343:G:T
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.23971344G>T, NT_187633.1:g.207708G>T, NC_000022.10:g.24313533G>T, NM_001084393.2:c.343G>T, NM_001084393.1:c.343G>T, NP_001077862.1:p.Glu115Ter

Select item 14194737444.

rs1419473744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:23971313 (GRCh38)
22:24313502 (GRCh37)
Canonical SPDI:: NC_000022.11:23971312:T:C,NC_000022.11:23971312:T:G
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.23971313T>C, NC_000022.11:g.23971313T>G, NT_187633.1:g.207677T>C, NT_187633.1:g.207677T>G, NC_000022.10:g.24313502T>C, NC_000022.10:g.24313502T>G, NM_001084393.2:c.312T>C, NM_001084393.2:c.312T>G, NM_001084393.1:c.312T>C, NM_001084393.1:c.312T>G

Select item 14044898625.

rs1404489862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:23971333 (GRCh38)
22:24313522 (GRCh37)
Canonical SPDI:: NC_000022.11:23971332:G:A
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.23971333G>A, NT_187633.1:g.207697G>A, NC_000022.10:g.24313522G>A, NM_001084393.2:c.332G>A, NM_001084393.1:c.332G>A, NP_001077862.1:p.Arg111Lys

Select item 13858758906.

rs1385875890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:23971386 (GRCh38)
22:24313575 (GRCh37)
Canonical SPDI:: NC_000022.11:23971385:C:G,NC_000022.11:23971385:C:T
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.23971386C>G, NC_000022.11:g.23971386C>T, NT_187633.1:g.207750C>G, NT_187633.1:g.207750C>T, NC_000022.10:g.24313575C>G, NC_000022.10:g.24313575C>T, NM_001355.4:c.*165G>C, NM_001355.4:c.*165G>A, NM_001355.3:c.*165G>C, NM_001355.3:c.*165G>A, NM_001084392.3:c.*165G>C, NM_001084392.3:c.*165G>A, NM_001084392.2:c.*165G>C, NM_001084392.2:c.*165G>A, NM_001084392.1:c.*165G>C, NM_001084392.1:c.*165G>A, NM_001084393.2:c.385C>G, NM_001084393.2:c.385C>T, NM_001084393.1:c.385C>G, NM_001084393.1:c.385C>T, NM_001397485.1:c.*165G>C, NM_001397485.1:c.*165G>A, NP_001077862.1:p.Leu129Val, NP_001077862.1:p.Leu129Phe

Select item 13825093567.

rs1382509356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:23971393 (GRCh38)
22:24313582 (GRCh37)
Canonical SPDI:: NC_000022.11:23971392:T:C
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.23971393T>C, NT_187633.1:g.207757T>C, NC_000022.10:g.24313582T>C, NM_001355.4:c.*158A>G, NM_001355.3:c.*158A>G, NM_001084392.3:c.*158A>G, NM_001084392.2:c.*158A>G, NM_001084392.1:c.*158A>G, NM_001084393.2:c.392T>C, NM_001084393.1:c.392T>C, NM_001397485.1:c.*158A>G, NP_001077862.1:p.Ile131Thr

Select item 13623189158.

rs1362318915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:23971309 (GRCh38)
22:24313498 (GRCh37)
Canonical SPDI:: NC_000022.11:23971308:G:C
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: 500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.23971309G>C, NT_187633.1:g.207673G>C, NC_000022.10:g.24313498G>C, NM_001084393.2:c.308G>C, NM_001084393.1:c.308G>C, NP_001077862.1:p.Ser103Thr

Select item 13581147269.

rs1358114726 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTAAG>- [Show Flanks]
Chromosome:: 22:23971357 (GRCh38)
22:24313546 (GRCh37)
Canonical SPDI:: NC_000022.11:23971353:AAGGTAAG:AAG
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: 500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.23971357_23971361del, NT_187633.1:g.207721_207725del, NC_000022.10:g.24313546_24313550del, NM_001084393.2:c.356_360del, NM_001084393.1:c.356_360del, NP_001077862.1:p.Gly119fs

Select item 134934736110.

rs1349347361 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:23971370 (GRCh38)
22:24313559 (GRCh37)
Canonical SPDI:: NC_000022.11:23971369:T:C
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.23971370T>C, NT_187633.1:g.207734T>C, NC_000022.10:g.24313559T>C, NM_001355.4:c.*181A>G, NM_001355.3:c.*181A>G, NM_001084392.3:c.*181A>G, NM_001084392.2:c.*181A>G, NM_001084392.1:c.*181A>G, NM_001084393.1:c.369T>C, NM_001084393.2:c.369T>C, NM_001397485.1:c.*181A>G

Select item 121972739011.

rs1219727390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:23971358 (GRCh38)
22:24313547 (GRCh37)
Canonical SPDI:: NC_000022.11:23971357:T:C
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.23971358T>C, NT_187633.1:g.207722T>C, NC_000022.10:g.24313547T>C, NM_001084393.2:c.357T>C, NM_001084393.1:c.357T>C

Select item 118643954812.

rs1186439548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:23971323 (GRCh38)
22:24313512 (GRCh37)
Canonical SPDI:: NC_000022.11:23971322:G:C
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.23971323G>C, NT_187633.1:g.207687G>C, NC_000022.10:g.24313512G>C, NM_001084393.2:c.322G>C, NM_001084393.1:c.322G>C, NP_001077862.1:p.Gly108Arg

Select item 116899203213.

rs1168992032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:23971312 (GRCh38)
22:24313501 (GRCh37)
Canonical SPDI:: NC_000022.11:23971311:C:A,NC_000022.11:23971311:C:T
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.23971312C>A, NC_000022.11:g.23971312C>T, NT_187633.1:g.207676C>A, NT_187633.1:g.207676C>T, NC_000022.10:g.24313501C>A, NC_000022.10:g.24313501C>T, NM_001084393.2:c.311C>A, NM_001084393.2:c.311C>T, NM_001084393.1:c.311C>A, NM_001084393.1:c.311C>T, NP_001077862.1:p.Pro104His, NP_001077862.1:p.Pro104Leu

Select item 99157210714.

rs991572107 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:23971360 (GRCh38)
22:24313549 (GRCh37)
Canonical SPDI:: NC_000022.11:23971359:A:G
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.23971360A>G, NT_187633.1:g.207724A>G, NC_000022.10:g.24313549A>G, NM_001084393.2:c.359A>G, NM_001084393.1:c.359A>G, NP_001077862.1:p.Lys120Arg

Select item 95880724615.

rs958807246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:23971355 (GRCh38)
22:24313544 (GRCh37)
Canonical SPDI:: NC_000022.11:23971354:A:C
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.23971355A>C, NT_187633.1:g.207719A>C, NC_000022.10:g.24313544A>C, NM_001084393.2:c.354A>C, NM_001084393.1:c.354A>C, NP_001077862.1:p.Glu118Asp

Select item 88971805416.

rs889718054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:23971377 (GRCh38)
22:24313566 (GRCh37)
Canonical SPDI:: NC_000022.11:23971376:G:A
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000022.11:g.23971377G>A, NT_187633.1:g.207741G>A, NC_000022.10:g.24313566G>A, NM_001355.4:c.*174C>T, NM_001355.3:c.*174C>T, NM_001084392.3:c.*174C>T, NM_001084392.2:c.*174C>T, NM_001084392.1:c.*174C>T, NM_001084393.1:c.376G>A, NM_001084393.2:c.376G>A, NM_001397485.1:c.*174C>T, NP_001077862.1:p.Glu126Lys

Select item 78052249117.

rs780522491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:23971373 (GRCh38)
22:24313562 (GRCh37)
Canonical SPDI:: NC_000022.11:23971372:G:A
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/1 (ExAC)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.23971373G>A, NT_187633.1:g.207737G>A, NC_000022.10:g.24313562G>A, NM_001355.4:c.*178C>T, NM_001355.3:c.*178C>T, NM_001084392.3:c.*178C>T, NM_001084392.2:c.*178C>T, NM_001084392.1:c.*178C>T, NM_001084393.1:c.372G>A, NM_001084393.2:c.372G>A, NM_001397485.1:c.*178C>T

Select item 78010712418.

rs780107124 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CCC [Show Flanks]
Chromosome:: 22:23971310 (GRCh38)
22:24313499 (GRCh37)
Canonical SPDI:: NC_000022.11:23971309:CCC:CC,NC_000022.11:23971309:CCC:CCCCC
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: frameshift_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
CC=0.000004/1 (TOPMED)
-=0.000008/1 (ExAC)
HGVS:: NC_000022.11:g.23971312del, NC_000022.11:g.23971311_23971312dup, NT_187633.1:g.207676del, NT_187633.1:g.207675_207676dup, NC_000022.10:g.24313501del, NC_000022.10:g.24313500_24313501dup, NM_001084393.2:c.311del, NM_001084393.2:c.310_311dup, NM_001084393.1:c.311del, NM_001084393.1:c.310_311dup, NP_001077862.1:p.Pro104fs, NP_001077862.1:p.Ala105fs

Select item 77742808019.

rs777428080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:23971404 (GRCh38)
22:24313593 (GRCh37)
Canonical SPDI:: NC_000022.11:23971403:T:C,NC_000022.11:23971403:T:G
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: 3_prime_UTR_variant,stop_lost,genic_downstream_transcript_variant,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.23971404T>C, NC_000022.11:g.23971404T>G, NT_187633.1:g.207768T>C, NT_187633.1:g.207768T>G, NC_000022.10:g.24313593T>C, NC_000022.10:g.24313593T>G, NM_001355.4:c.*147A>G, NM_001355.4:c.*147A>C, NM_001355.3:c.*147A>G, NM_001355.3:c.*147A>C, NM_001084392.3:c.*147A>G, NM_001084392.3:c.*147A>C, NM_001084392.2:c.*147A>G, NM_001084392.2:c.*147A>C, NM_001084392.1:c.*147A>G, NM_001084392.1:c.*147A>C, NM_001084393.2:c.403T>C, NM_001084393.2:c.403T>G, NM_001084393.1:c.403T>C, NM_001084393.1:c.403T>G, NM_001397485.1:c.*147A>G, NM_001397485.1:c.*147A>C, NP_001077862.1:p.Ter135Arg, NP_001077862.1:p.Ter135Gly

Select item 77658291820.

rs776582918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:23971341 (GRCh38)
22:24313530 (GRCh37)
Canonical SPDI:: NC_000022.11:23971340:G:C
Gene:: DDT (Varview), DDTL (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000008/1 (ExAC)
HGVS:: NC_000022.11:g.23971341G>C, NT_187633.1:g.207705G>C, NC_000022.10:g.24313530G>C, NM_001084393.2:c.340G>C, NM_001084393.1:c.340G>C, NP_001077862.1:p.Gly114Arg

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