SNP Links for Nucleotide (Select 508083040) - SNP

Links from Nucleotide

Items: 1 to 20 of 855

<< First< Prev

Page of 43

Next >Last >>

Select item 14895525711.

rs1489552571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122208434 (GRCh38)
12:122692981 (GRCh37)
Canonical SPDI:: NC_000012.12:122208433:C:T
Gene:: DIABLO (Varview), B3GNT4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122208434C>T, NC_000012.11:g.122692981C>T, NG_029459.1:g.24088G>A, NM_019887.6:c.667G>A, NM_019887.5:c.667G>A, NM_138930.3:c.508G>A, NM_001278304.2:c.508G>A, NM_001278304.1:c.508G>A, NM_001278342.1:c.535G>A, NM_001278303.1:c.448G>A, NM_001278302.1:c.376G>A, NM_001371333.1:c.667G>A, NM_030765.4:c.*1046C>T, NM_030765.3:c.*1046C>T, NM_138929.3:c.535G>A, NM_001330492.2:c.*1046C>T, NM_001330492.1:c.*1046C>T, NM_138929.2:c.535G>A, NR_024600.1:n.1443G>A, NR_024601.1:n.1311G>A, NM_138929.1:c.535G>A, NP_063940.1:p.Glu223Lys, NP_620308.1:p.Glu170Lys, NP_001265233.1:p.Glu170Lys, NP_001265271.1:p.Glu179Lys, NP_001265232.1:p.Glu150Lys, NP_001265231.1:p.Glu126Lys, NP_001358262.1:p.Glu223Lys

Select item 14893464162.

rs1489346416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:122207874 (GRCh38)
12:122692421 (GRCh37)
Canonical SPDI:: NC_000012.12:122207873:T:A,NC_000012.12:122207873:T:C
Gene:: DIABLO (Varview), B3GNT4 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122207874T>A, NC_000012.12:g.122207874T>C, NC_000012.11:g.122692421T>A, NC_000012.11:g.122692421T>C, NG_029459.1:g.24648A>T, NG_029459.1:g.24648A>G, NM_019887.6:c.*507A>T, NM_019887.6:c.*507A>G, NM_019887.5:c.*507A>T, NM_019887.5:c.*507A>G, NM_138930.3:c.*507A>T, NM_138930.3:c.*507A>G, NM_001278304.2:c.*507A>T, NM_001278304.2:c.*507A>G, NM_001278304.1:c.*507A>T, NM_001278304.1:c.*507A>G, NM_001278342.1:c.*507A>T, NM_001278342.1:c.*507A>G, NM_001278303.1:c.*507A>T, NM_001278303.1:c.*507A>G, NM_001278302.1:c.*507A>T, NM_001278302.1:c.*507A>G, NM_001371333.1:c.*507A>T, NM_001371333.1:c.*507A>G, NM_030765.4:c.*486T>A, NM_030765.4:c.*486T>C, NM_030765.3:c.*486T>A, NM_030765.3:c.*486T>C, NM_138929.3:c.*507A>T, NM_138929.3:c.*507A>G, NM_001330492.2:c.*486T>A, NM_001330492.2:c.*486T>C, NM_001330492.1:c.*486T>A, NM_001330492.1:c.*486T>C, NM_138929.2:c.*507A>T, NM_138929.2:c.*507A>G, NR_024600.1:n.2003A>T, NR_024600.1:n.2003A>G, NR_024601.1:n.1871A>T, NR_024601.1:n.1871A>G, NM_138929.1:c.*507A>T, NM_138929.1:c.*507A>G

Select item 14887923153.

rs1488792315 has merged into rs546228931 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG>-,GGAGGCGGGGCCGGGCG,GGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG,GGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG,GGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG,GGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG [Show Flanks]
Chromosome:: 12:122226382 (GRCh38)
12:122710929 (GRCh37)
Canonical SPDI:: NC_000012.12:122226363:GGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG:GGGAGGCGGGGCCGGGCG,NC_000012.12:122226363:GGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG:GGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG,NC_000012.12:122226363:GGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG:GGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG,NC_000012.12:122226363:GGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG:GGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG,NC_000012.12:122226363:GGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG:GGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG,NC_000012.12:122226363:GGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG:GGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG
Gene:: DIABLO (Varview), LOC101593348 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: GGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCG=0.00009/2 (ALFA)
-=0.07129/357 (1000Genomes)
-=0.18963/1159 (ExAC)
HGVS:: NC_000012.12:g.122226365GGAGGCGGGGCCGGGCG[1], NC_000012.12:g.122226365GGAGGCGGGGCCGGGCG[2], NC_000012.12:g.122226365GGAGGCGGGGCCGGGCG[4], NC_000012.12:g.122226365GGAGGCGGGGCCGGGCG[5], NC_000012.12:g.122226365GGAGGCGGGGCCGGGCG[6], NC_000012.12:g.122226365GGAGGCGGGGCCGGGCG[7], NC_000012.11:g.122710912GGAGGCGGGGCCGGGCG[1], NC_000012.11:g.122710912GGAGGCGGGGCCGGGCG[2], NC_000012.11:g.122710912GGAGGCGGGGCCGGGCG[4], NC_000012.11:g.122710912GGAGGCGGGGCCGGGCG[5], NC_000012.11:g.122710912GGAGGCGGGGCCGGGCG[6], NC_000012.11:g.122710912GGAGGCGGGGCCGGGCG[7], NG_029459.1:g.6108GCCCGGCCCCGCCTCCC[1], NG_029459.1:g.6108GCCCGGCCCCGCCTCCC[2], NG_029459.1:g.6108GCCCGGCCCCGCCTCCC[4], NG_029459.1:g.6108GCCCGGCCCCGCCTCCC[5], NG_029459.1:g.6108GCCCGGCCCCGCCTCCC[6], NG_029459.1:g.6108GCCCGGCCCCGCCTCCC[7], NM_019887.6:c.-400GCCCGGCCCCGCCTCCC[1], NM_019887.6:c.-400GCCCGGCCCCGCCTCCC[2], NM_019887.6:c.-400GCCCGGCCCCGCCTCCC[4], NM_019887.6:c.-400GCCCGGCCCCGCCTCCC[5], NM_019887.6:c.-400GCCCGGCCCCGCCTCCC[6], NM_019887.6:c.-400GCCCGGCCCCGCCTCCC[7], NM_019887.5:c.-400GCCCGGCCCCGCCTCCC[1], NM_019887.5:c.-400GCCCGGCCCCGCCTCCC[2], NM_019887.5:c.-400GCCCGGCCCCGCCTCCC[4], NM_019887.5:c.-400GCCCGGCCCCGCCTCCC[5], NM_019887.5:c.-400GCCCGGCCCCGCCTCCC[6], NM_019887.5:c.-400GCCCGGCCCCGCCTCCC[7], NM_138930.3:c.-530GCCCGGCCCCGCCTCCC[1], NM_138930.3:c.-530GCCCGGCCCCGCCTCCC[2], NM_138930.3:c.-530GCCCGGCCCCGCCTCCC[4], NM_138930.3:c.-530GCCCGGCCCCGCCTCCC[5], NM_138930.3:c.-530GCCCGGCCCCGCCTCCC[6], NM_138930.3:c.-530GCCCGGCCCCGCCTCCC[7], NM_001278342.1:c.-400GCCCGGCCCCGCCTCCC[1], NM_001278342.1:c.-400GCCCGGCCCCGCCTCCC[2], NM_001278342.1:c.-400GCCCGGCCCCGCCTCCC[4], NM_001278342.1:c.-400GCCCGGCCCCGCCTCCC[5], NM_001278342.1:c.-400GCCCGGCCCCGCCTCCC[6], NM_001278342.1:c.-400GCCCGGCCCCGCCTCCC[7], NM_001278303.1:c.-486GCCCGGCCCCGCCTCCC[1], NM_001278303.1:c.-486GCCCGGCCCCGCCTCCC[2], NM_001278303.1:c.-486GCCCGGCCCCGCCTCCC[4], NM_001278303.1:c.-486GCCCGGCCCCGCCTCCC[5], NM_001278303.1:c.-486GCCCGGCCCCGCCTCCC[6], NM_001278303.1:c.-486GCCCGGCCCCGCCTCCC[7], NM_001278302.1:c.-530GCCCGGCCCCGCCTCCC[1], NM_001278302.1:c.-530GCCCGGCCCCGCCTCCC[2], NM_001278302.1:c.-530GCCCGGCCCCGCCTCCC[4], NM_001278302.1:c.-530GCCCGGCCCCGCCTCCC[5], NM_001278302.1:c.-530GCCCGGCCCCGCCTCCC[6], NM_001278302.1:c.-530GCCCGGCCCCGCCTCCC[7], NG_056557.1:g.344GGAGGCGGGGCCGGGCG[1], NG_056557.1:g.344GGAGGCGGGGCCGGGCG[2], NG_056557.1:g.344GGAGGCGGGGCCGGGCG[4], NG_056557.1:g.344GGAGGCGGGGCCGGGCG[5], NG_056557.1:g.344GGAGGCGGGGCCGGGCG[6], NG_056557.1:g.344GGAGGCGGGGCCGGGCG[7], NM_138929.3:c.-400GCCCGGCCCCGCCTCCC[1], NM_138929.3:c.-400GCCCGGCCCCGCCTCCC[2], NM_138929.3:c.-400GCCCGGCCCCGCCTCCC[4], NM_138929.3:c.-400GCCCGGCCCCGCCTCCC[5], NM_138929.3:c.-400GCCCGGCCCCGCCTCCC[6], NM_138929.3:c.-400GCCCGGCCCCGCCTCCC[7], NR_024600.1:n.406GCCCGGCCCCGCCTCCC[1], NR_024600.1:n.406GCCCGGCCCCGCCTCCC[2], NR_024600.1:n.406GCCCGGCCCCGCCTCCC[4], NR_024600.1:n.406GCCCGGCCCCGCCTCCC[5], NR_024600.1:n.406GCCCGGCCCCGCCTCCC[6], NR_024600.1:n.406GCCCGGCCCCGCCTCCC[7], NR_024601.1:n.406GCCCGGCCCCGCCTCCC[1], NR_024601.1:n.406GCCCGGCCCCGCCTCCC[2], NR_024601.1:n.406GCCCGGCCCCGCCTCCC[4], NR_024601.1:n.406GCCCGGCCCCGCCTCCC[5], NR_024601.1:n.406GCCCGGCCCCGCCTCCC[6], NR_024601.1:n.406GCCCGGCCCCGCCTCCC[7]

Select item 14880086214.

rs1488008621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122226294 (GRCh38)
12:122710841 (GRCh37)
Canonical SPDI:: NC_000012.12:122226293:G:A
Gene:: DIABLO (Varview), LOC101593348 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122226294G>A, NC_000012.11:g.122710841G>A, NG_029459.1:g.6228C>T, NM_019887.6:c.-280C>T, NM_019887.5:c.-280C>T, NM_138930.3:c.-410C>T, NM_001278342.1:c.-280C>T, NM_001278303.1:c.-366C>T, NM_001278302.1:c.-410C>T, NG_056557.1:g.273G>A, NM_138929.3:c.-280C>T, NR_024600.1:n.526C>T, NR_024601.1:n.526C>T

Select item 14878742715.

rs1487874271 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGGAGGCGGGGCCGGG [Show Flanks]
Chromosome:: 12:122226362 (GRCh38)
12:122710910 (GRCh37)
Canonical SPDI:: NC_000012.12:122226362:AGGGAGGCGGGGCCGGG:AGGGAGGCGGGGCCGGGAGGGAGGCGGGGCCGGG
Gene:: DIABLO (Varview), LOC101593348 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: AGGGAGGCGGGGCCGGG=0.00001/1 (GnomAD)
HGVS:: NC_000012.12:g.122226363_122226379dup, NC_000012.11:g.122710910_122710926dup, NG_029459.1:g.6143_6159dup, NM_019887.6:c.-365_-349dup, NM_019887.5:c.-365_-349dup, NM_138930.3:c.-495_-479dup, NM_001278342.1:c.-365_-349dup, NM_001278303.1:c.-451_-435dup, NM_001278302.1:c.-495_-479dup, NG_056557.1:g.342_358dup, NM_138929.3:c.-365_-349dup, NR_024600.1:n.441_457dup, NR_024601.1:n.441_457dup

Select item 14873112776.

rs1487311277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:122226393 (GRCh38)
12:122710940 (GRCh37)
Canonical SPDI:: NC_000012.12:122226392:C:G,NC_000012.12:122226392:C:T
Gene:: DIABLO (Varview), LOC101593348 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
G=0.01853/53 (KOREAN)
HGVS:: NC_000012.12:g.122226393C>G, NC_000012.12:g.122226393C>T, NC_000012.11:g.122710940C>G, NC_000012.11:g.122710940C>T, NG_029459.1:g.6129G>C, NG_029459.1:g.6129G>A, NM_019887.6:c.-379G>C, NM_019887.6:c.-379G>A, NM_019887.5:c.-379G>C, NM_019887.5:c.-379G>A, NM_138930.3:c.-509G>C, NM_138930.3:c.-509G>A, NM_001278342.1:c.-379G>C, NM_001278342.1:c.-379G>A, NM_001278303.1:c.-465G>C, NM_001278303.1:c.-465G>A, NM_001278302.1:c.-509G>C, NM_001278302.1:c.-509G>A, NG_056557.1:g.372C>G, NG_056557.1:g.372C>T, NM_138929.3:c.-379G>C, NM_138929.3:c.-379G>A, NR_024600.1:n.427G>C, NR_024600.1:n.427G>A, NR_024601.1:n.427G>C, NR_024601.1:n.427G>A

Select item 14864767467.

rs1486476746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122208223 (GRCh38)
12:122692770 (GRCh37)
Canonical SPDI:: NC_000012.12:122208222:G:A
Gene:: DIABLO (Varview), B3GNT4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
HGVS:: NC_000012.12:g.122208223G>A, NC_000012.11:g.122692770G>A, NG_029459.1:g.24299C>T, NM_019887.6:c.*158C>T, NM_019887.5:c.*158C>T, NM_138930.3:c.*158C>T, NM_001278304.2:c.*158C>T, NM_001278304.1:c.*158C>T, NM_001278342.1:c.*158C>T, NM_001278303.1:c.*158C>T, NM_001278302.1:c.*158C>T, NM_001371333.1:c.*158C>T, NM_030765.4:c.*835G>A, NM_030765.3:c.*835G>A, NM_138929.3:c.*158C>T, NM_001330492.2:c.*835G>A, NM_001330492.1:c.*835G>A, NM_138929.2:c.*158C>T, NR_024600.1:n.1654C>T, NR_024601.1:n.1522C>T, NM_138929.1:c.*158C>T

Select item 14859201168.

rs1485920116 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 12:122216804 (GRCh38)
12:122701351 (GRCh37)
Canonical SPDI:: NC_000012.12:122216798:TCCTCCTC:TCCTC
Gene:: DIABLO (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TCCTC=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.122216801CTC[1], NC_000012.11:g.122701348CTC[1], NG_029459.1:g.15718GGA[1], NM_019887.6:c.381GGA[1], NM_019887.5:c.381GGA[1], NM_138930.3:c.222GGA[1], NM_001278304.2:c.222GGA[1], NM_001278304.1:c.222GGA[1], NM_001278342.1:c.249GGA[1], NM_001278303.1:c.162GGA[1], NM_001278302.1:c.90GGA[1], NM_001371333.1:c.381GGA[1], NM_138929.3:c.249GGA[1], NM_138929.2:c.249GGA[1], NR_024600.1:n.1157GGA[1], NR_024601.1:n.1025GGA[1], NM_138929.1:c.249GGA[1], NP_063940.1:p.Glu129del, NP_620308.1:p.Glu76del, NP_001265233.1:p.Glu76del, NP_001265271.1:p.Glu85del, NP_001265232.1:p.Glu56del, NP_001265231.1:p.Glu32del, NP_001358262.1:p.Glu129del

Select item 14852129849.

rs1485212984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122208025 (GRCh38)
12:122692572 (GRCh37)
Canonical SPDI:: NC_000012.12:122208024:C:T
Gene:: DIABLO (Varview), B3GNT4 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000023/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122208025C>T, NC_000012.11:g.122692572C>T, NG_029459.1:g.24497G>A, NM_019887.6:c.*356G>A, NM_019887.5:c.*356G>A, NM_138930.3:c.*356G>A, NM_001278304.2:c.*356G>A, NM_001278304.1:c.*356G>A, NM_001278342.1:c.*356G>A, NM_001278303.1:c.*356G>A, NM_001278302.1:c.*356G>A, NM_001371333.1:c.*356G>A, NM_030765.4:c.*637C>T, NM_030765.3:c.*637C>T, NM_138929.3:c.*356G>A, NM_001330492.2:c.*637C>T, NM_001330492.1:c.*637C>T, NM_138929.2:c.*356G>A, NR_024600.1:n.1852G>A, NR_024601.1:n.1720G>A, NM_138929.1:c.*356G>A

Select item 148376008210.

rs1483760082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122208245 (GRCh38)
12:122692792 (GRCh37)
Canonical SPDI:: NC_000012.12:122208244:G:A
Gene:: DIABLO (Varview), B3GNT4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000026/4 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122208245G>A, NC_000012.11:g.122692792G>A, NG_029459.1:g.24277C>T, NM_019887.6:c.*136C>T, NM_019887.5:c.*136C>T, NM_138930.3:c.*136C>T, NM_001278304.2:c.*136C>T, NM_001278304.1:c.*136C>T, NM_001278342.1:c.*136C>T, NM_001278303.1:c.*136C>T, NM_001278302.1:c.*136C>T, NM_001371333.1:c.*136C>T, NM_030765.4:c.*857G>A, NM_030765.3:c.*857G>A, NM_138929.3:c.*136C>T, NM_001330492.2:c.*857G>A, NM_001330492.1:c.*857G>A, NM_138929.2:c.*136C>T, NR_024600.1:n.1632C>T, NR_024601.1:n.1500C>T, NM_138929.1:c.*136C>T

Select item 148353690511.

rs1483536905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122207952 (GRCh38)
12:122692499 (GRCh37)
Canonical SPDI:: NC_000012.12:122207951:C:T
Gene:: DIABLO (Varview), B3GNT4 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.122207952C>T, NC_000012.11:g.122692499C>T, NG_029459.1:g.24570G>A, NM_019887.6:c.*429G>A, NM_019887.5:c.*429G>A, NM_138930.3:c.*429G>A, NM_001278304.2:c.*429G>A, NM_001278304.1:c.*429G>A, NM_001278342.1:c.*429G>A, NM_001278303.1:c.*429G>A, NM_001278302.1:c.*429G>A, NM_001371333.1:c.*429G>A, NM_030765.4:c.*564C>T, NM_030765.3:c.*564C>T, NM_138929.3:c.*429G>A, NM_001330492.2:c.*564C>T, NM_001330492.1:c.*564C>T, NM_138929.2:c.*429G>A, NR_024600.1:n.1925G>A, NR_024601.1:n.1793G>A, NM_138929.1:c.*429G>A

Select item 148341172312.

rs1483411723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122208447 (GRCh38)
12:122692994 (GRCh37)
Canonical SPDI:: NC_000012.12:122208446:C:T
Gene:: DIABLO (Varview), B3GNT4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_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_000012.12:g.122208447C>T, NC_000012.11:g.122692994C>T, NG_029459.1:g.24075G>A, NM_019887.6:c.654G>A, NM_019887.5:c.654G>A, NM_138930.3:c.495G>A, NM_001278304.2:c.495G>A, NM_001278304.1:c.495G>A, NM_001278342.1:c.522G>A, NM_001278303.1:c.435G>A, NM_001278302.1:c.363G>A, NM_001371333.1:c.654G>A, NM_030765.4:c.*1059C>T, NM_030765.3:c.*1059C>T, NM_138929.3:c.522G>A, NM_001330492.2:c.*1059C>T, NM_001330492.1:c.*1059C>T, NM_138929.2:c.522G>A, NR_024600.1:n.1430G>A, NR_024601.1:n.1298G>A, NM_138929.1:c.522G>A

Select item 147981090113.

rs1479810901 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:122226371 (GRCh38)
12:122710918 (GRCh37)
Canonical SPDI:: NC_000012.12:122226370:GGGG:GGG
Gene:: DIABLO (Varview), LOC101593348 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000015/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122226374del, NC_000012.11:g.122710921del, NG_029459.1:g.6151del, NM_019887.6:c.-357del, NM_019887.5:c.-357del, NM_138930.3:c.-487del, NM_001278342.1:c.-357del, NM_001278303.1:c.-443del, NM_001278302.1:c.-487del, NG_056557.1:g.353del, NM_138929.3:c.-357del, NR_024600.1:n.449del, NR_024601.1:n.449del

Select item 147861966314.

rs1478619663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122226526 (GRCh38)
12:122711073 (GRCh37)
Canonical SPDI:: NC_000012.12:122226525:C:T
Gene:: DIABLO (Varview), LOC101593348 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.122226526C>T, NC_000012.11:g.122711073C>T, NG_029459.1:g.5996G>A, NM_019887.6:c.-512G>A, NM_019887.5:c.-512G>A, NM_138930.3:c.-642G>A, NM_001278342.1:c.-512G>A, NM_001278303.1:c.-598G>A, NM_001278302.1:c.-642G>A, NM_138929.3:c.-512G>A, NR_103497.1:n.85C>T, NR_024600.1:n.294G>A, NR_024601.1:n.294G>A

Select item 147817834515.

rs1478178345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122226063 (GRCh38)
12:122710610 (GRCh37)
Canonical SPDI:: NC_000012.12:122226062:C:T
Gene:: DIABLO (Varview), LOC101593348 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.122226063C>T, NC_000012.11:g.122710610C>T, NG_029459.1:g.6459G>A, NM_019887.6:c.-49G>A, NM_019887.5:c.-49G>A, NM_138930.3:c.-179G>A, NM_001278342.1:c.-49G>A, NM_001278303.1:c.-135G>A, NM_001278302.1:c.-179G>A, NG_056557.1:g.42C>T, NM_138929.3:c.-49G>A, NR_024600.1:n.757G>A, NR_024601.1:n.757G>A

Select item 147802756916.

rs1478027569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:122226250 (GRCh38)
12:122710797 (GRCh37)
Canonical SPDI:: NC_000012.12:122226249:G:C
Gene:: DIABLO (Varview), LOC101593348 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000025/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122226250G>C, NC_000012.11:g.122710797G>C, NG_029459.1:g.6272C>G, NM_019887.6:c.-236C>G, NM_019887.5:c.-236C>G, NM_138930.3:c.-366C>G, NM_001278342.1:c.-236C>G, NM_001278303.1:c.-322C>G, NM_001278302.1:c.-366C>G, NG_056557.1:g.229G>C, NM_138929.3:c.-236C>G, NR_024600.1:n.570C>G, NR_024601.1:n.570C>G

Select item 147777937217.

rs1477779372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:122226518 (GRCh38)
12:122711065 (GRCh37)
Canonical SPDI:: NC_000012.12:122226517:A:C
Gene:: DIABLO (Varview), LOC101593348 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122226518A>C, NC_000012.11:g.122711065A>C, NG_029459.1:g.6004T>G, NM_019887.6:c.-504T>G, NM_019887.5:c.-504T>G, NM_138930.3:c.-634T>G, NM_001278342.1:c.-504T>G, NM_001278303.1:c.-590T>G, NM_001278302.1:c.-634T>G, NM_138929.3:c.-504T>G, NR_103497.1:n.77A>C, NR_024600.1:n.302T>G, NR_024601.1:n.302T>G

Select item 147752916418.

rs1477529164 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:122208123 (GRCh38)
12:122692671 (GRCh37)
Canonical SPDI:: NC_000012.12:122208123::G
Gene:: DIABLO (Varview), B3GNT4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.122208123_122208124insG, NC_000012.11:g.122692670_122692671insG, NG_029459.1:g.24398_24399insC, NM_019887.6:c.*257_*258insC, NM_019887.5:c.*257_*258insC, NM_138930.3:c.*257_*258insC, NM_001278304.2:c.*257_*258insC, NM_001278304.1:c.*257_*258insC, NM_001278342.1:c.*257_*258insC, NM_001278303.1:c.*257_*258insC, NM_001278302.1:c.*257_*258insC, NM_001371333.1:c.*257_*258insC, NM_030765.4:c.*735_*736insG, NM_030765.3:c.*735_*736insG, NM_138929.3:c.*257_*258insC, NM_001330492.2:c.*735_*736insG, NM_001330492.1:c.*735_*736insG, NM_138929.2:c.*257_*258insC, NR_024600.1:n.1753_1754insC, NR_024601.1:n.1621_1622insC, NM_138929.1:c.*257_*258insC

Select item 147571958219.

rs1475719582 [Homo sapiens]

Variant type:: DEL
Alleles:: TCAGCCCG>- [Show Flanks]
Chromosome:: 12:122208415 (GRCh38)
12:122692962 (GRCh37)
Canonical SPDI:: NC_000012.12:122208414:TCAGCCCG:
Gene:: DIABLO (Varview), B3GNT4 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.122208415_122208422del, NC_000012.11:g.122692962_122692969del, NG_029459.1:g.24100_24107del, NM_019887.6:c.679_686del, NM_019887.5:c.679_686del, NM_138930.3:c.520_527del, NM_001278304.2:c.520_527del, NM_001278304.1:c.520_527del, NM_001278342.1:c.547_554del, NM_001278303.1:c.460_467del, NM_001278302.1:c.388_395del, NM_001371333.1:c.679_686del, NM_030765.4:c.*1027_*1034del, NM_030765.3:c.*1027_*1034del, NM_138929.3:c.547_554del, NM_001330492.2:c.*1027_*1034del, NM_001330492.1:c.*1027_*1034del, NM_138929.2:c.547_554del, NR_024600.1:n.1455_1462del, NR_024601.1:n.1323_1330del, NM_138929.1:c.547_554del, NP_063940.1:p.Arg227fs, NP_620308.1:p.Arg174fs, NP_001265233.1:p.Arg174fs, NP_001265271.1:p.Arg183fs, NP_001265232.1:p.Arg154fs, NP_001265231.1:p.Arg130fs, NP_001358262.1:p.Arg227fs

Select item 147487013320.

rs1474870133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122226079 (GRCh38)
12:122710626 (GRCh37)
Canonical SPDI:: NC_000012.12:122226078:G:A
Gene:: DIABLO (Varview), LOC101593348 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.122226079G>A, NC_000012.11:g.122710626G>A, NG_029459.1:g.6443C>T, NM_019887.6:c.-65C>T, NM_019887.5:c.-65C>T, NM_138930.3:c.-195C>T, NM_001278342.1:c.-65C>T, NM_001278303.1:c.-151C>T, NM_001278302.1:c.-195C>T, NG_056557.1:g.58G>A, NM_138929.3:c.-65C>T, NR_024600.1:n.741C>T, NR_024601.1:n.741C>T

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 855

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity