SNP Links for Protein (Select 31982899) - SNP

Links from Protein

Items: 1 to 20 of 246

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Select item 14896141041.

rs1489614104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:150762665 (GRCh38)
3:150480452 (GRCh37)
Canonical SPDI:: NC_000003.12:150762664:C:T
Gene:: SIAH2 (Varview), SIAH2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000003.12:g.150762665C>T, NC_000003.11:g.150480452C>T, NM_005067.7:c.185G>A, NM_005067.6:c.185G>A, NM_005067.5:c.185G>A, NP_005058.3:p.Gly62Asp

Select item 14895782192.

rs1489578219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:150762745 (GRCh38)
3:150480532 (GRCh37)
Canonical SPDI:: NC_000003.12:150762744:G:A
Gene:: SIAH2 (Varview), SIAH2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000015/2 (GnomAD)
HGVS:: NC_000003.12:g.150762745G>A, NC_000003.11:g.150480532G>A, NM_005067.7:c.105C>T, NM_005067.6:c.105C>T, NM_005067.5:c.105C>T

Select item 14893837663.

rs1489383766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:150762452 (GRCh38)
3:150480239 (GRCh37)
Canonical SPDI:: NC_000003.12:150762451:G:A
Gene:: SIAH2 (Varview), SIAH2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.150762452G>A, NC_000003.11:g.150480239G>A, NM_005067.7:c.398C>T, NM_005067.6:c.398C>T, NM_005067.5:c.398C>T, NP_005058.3:p.Ala133Val

Select item 14824543714.

rs1482454371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:150742662 (GRCh38)
3:150460449 (GRCh37)
Canonical SPDI:: NC_000003.12:150742661:T:C
Gene:: SIAH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150742662T>C, NC_000003.11:g.150460449T>C, NM_005067.7:c.454A>G, NM_005067.6:c.454A>G, NM_005067.5:c.454A>G, NP_005058.3:p.Thr152Ala

Select item 14736130885.

rs1473613088 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:150742533 (GRCh38)
3:150460320 (GRCh37)
Canonical SPDI:: NC_000003.12:150742532:T:C
Gene:: SIAH2 (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_000003.12:g.150742533T>C, NC_000003.11:g.150460320T>C, NM_005067.7:c.583A>G, NM_005067.6:c.583A>G, NM_005067.5:c.583A>G, NP_005058.3:p.Ile195Val

Select item 14719596706.

rs1471959670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:150742506 (GRCh38)
3:150460293 (GRCh37)
Canonical SPDI:: NC_000003.12:150742505:C:T
Gene:: SIAH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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)
T=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.150742506C>T, NC_000003.11:g.150460293C>T, NM_005067.7:c.610G>A, NM_005067.6:c.610G>A, NM_005067.5:c.610G>A, NP_005058.3:p.Val204Ile

Select item 14696184197.

rs1469618419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:150762833 (GRCh38)
3:150480620 (GRCh37)
Canonical SPDI:: NC_000003.12:150762832:G:A
Gene:: SIAH2 (Varview), SIAH2-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.150762833G>A, NC_000003.11:g.150480620G>A, NM_005067.7:c.17C>T, NM_005067.6:c.17C>T, NM_005067.5:c.17C>T, NP_005058.3:p.Ser6Phe

Select item 14679020228.

rs1467902022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:150742302 (GRCh38)
3:150460089 (GRCh37)
Canonical SPDI:: NC_000003.12:150742301:G:A
Gene:: SIAH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.150742302G>A, NC_000003.11:g.150460089G>A, NM_005067.7:c.814C>T, NM_005067.6:c.814C>T, NM_005067.5:c.814C>T, NP_005058.3:p.Arg272Trp

Select item 14631015599.

rs1463101559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:150742224 (GRCh38)
3:150460011 (GRCh37)
Canonical SPDI:: NC_000003.12:150742223:C:T
Gene:: SIAH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150742224C>T, NC_000003.11:g.150460011C>T, NM_005067.7:c.892G>A, NM_005067.6:c.892G>A, NM_005067.5:c.892G>A, NP_005058.3:p.Val298Ile

Select item 146162432010.

rs1461624320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:150742271 (GRCh38)
3:150460058 (GRCh37)
Canonical SPDI:: NC_000003.12:150742270:G:A
Gene:: SIAH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.150742271G>A, NC_000003.11:g.150460058G>A, NM_005067.7:c.845C>T, NM_005067.6:c.845C>T, NM_005067.5:c.845C>T, NP_005058.3:p.Ser282Leu

Select item 146072979711.

rs1460729797 has merged into rs973080041 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGC>-,GGCGGC [Show Flanks]
Chromosome:: 3:150762794 (GRCh38)
3:150480581 (GRCh37)
Canonical SPDI:: NC_000003.12:150762785:GCGGCGGCGGC:GCGGCGGC,NC_000003.12:150762785:GCGGCGGCGGC:GCGGCGGCGGCGGC
Gene:: SIAH2 (Varview), SIAH2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,inframe_insertion,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGGCGGCGGCGGC=0./0 (ALFA)
GCG=0.000007/1 (GnomAD)
GCG=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.150762788GGC[2], NC_000003.12:g.150762788GGC[4], NC_000003.11:g.150480575GGC[2], NC_000003.11:g.150480575GGC[4], NM_005067.7:c.56CGC[2], NM_005067.7:c.56CGC[4], NM_005067.6:c.56CGC[2], NM_005067.6:c.56CGC[4], NM_005067.5:c.56CGC[2], NM_005067.5:c.56CGC[4], NP_005058.3:p.Pro21del, NP_005058.3:p.Pro21dup

Select item 146027203912.

rs1460272039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:150742285 (GRCh38)
3:150460072 (GRCh37)
Canonical SPDI:: NC_000003.12:150742284:C:T
Gene:: SIAH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.150742285C>T, NC_000003.11:g.150460072C>T, NM_005067.7:c.831G>A, NM_005067.6:c.831G>A, NM_005067.5:c.831G>A

Select item 145231669113.

rs1452316691 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:150762752 (GRCh38)
3:150480539 (GRCh37)
Canonical SPDI:: NC_000003.12:150762751:GGGGG:GGGG
Gene:: SIAH2 (Varview), SIAH2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
HGVS:: NC_000003.12:g.150762756del, NC_000003.11:g.150480543del, NM_005067.7:c.98del, NM_005067.6:c.98del, NM_005067.5:c.98del, NP_005058.3:p.Pro33fs

Select item 144802106214.

rs1448021062 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:150762592 (GRCh38)
3:150480379 (GRCh37)
Canonical SPDI:: NC_000003.12:150762591:A:G
Gene:: SIAH2 (Varview), SIAH2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150762592A>G, NC_000003.11:g.150480379A>G, NM_005067.7:c.258T>C, NM_005067.6:c.258T>C, NM_005067.5:c.258T>C

Select item 144531233015.

rs1445312330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:150762670 (GRCh38)
3:150480457 (GRCh37)
Canonical SPDI:: NC_000003.12:150762669:G:T
Gene:: SIAH2 (Varview), SIAH2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.150762670G>T, NC_000003.11:g.150480457G>T, NM_005067.7:c.180C>A, NM_005067.6:c.180C>A, NM_005067.5:c.180C>A

Select item 144375042816.

rs1443750428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:150762678 (GRCh38)
3:150480465 (GRCh37)
Canonical SPDI:: NC_000003.12:150762677:G:A
Gene:: SIAH2 (Varview), SIAH2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150762678G>A, NC_000003.11:g.150480465G>A, NM_005067.7:c.172C>T, NM_005067.6:c.172C>T, NM_005067.5:c.172C>T, NP_005058.3:p.Pro58Ser

Select item 143623577817.

rs1436235778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:150762664 (GRCh38)
3:150480451 (GRCh37)
Canonical SPDI:: NC_000003.12:150762663:G:C
Gene:: SIAH2 (Varview), SIAH2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150762664G>C, NC_000003.11:g.150480451G>C, NM_005067.7:c.186C>G, NM_005067.6:c.186C>G, NM_005067.5:c.186C>G

Select item 142870482818.

rs1428704828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:150742479 (GRCh38)
3:150460266 (GRCh37)
Canonical SPDI:: NC_000003.12:150742478:G:T
Gene:: SIAH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.150742479G>T, NC_000003.11:g.150460266G>T, NM_005067.7:c.637C>A, NM_005067.6:c.637C>A, NM_005067.5:c.637C>A, NP_005058.3:p.Pro213Thr

Select item 142747472019.

rs1427474720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:150762516 (GRCh38)
3:150480303 (GRCh37)
Canonical SPDI:: NC_000003.12:150762515:G:A
Gene:: SIAH2 (Varview), SIAH2-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150762516G>A, NC_000003.11:g.150480303G>A, NM_005067.7:c.334C>T, NM_005067.6:c.334C>T, NM_005067.5:c.334C>T, NP_005058.3:p.Pro112Ser

Select item 142474872320.

rs1424748723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:150762696 (GRCh38)
3:150480483 (GRCh37)
Canonical SPDI:: NC_000003.12:150762695:C:T
Gene:: SIAH2 (Varview), SIAH2-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000003.12:g.150762696C>T, NC_000003.11:g.150480483C>T, NM_005067.7:c.154G>A, NM_005067.6:c.154G>A, NM_005067.5:c.154G>A, NP_005058.3:p.Ala52Thr

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Items: 1 to 20 of 246

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