SNP Links for Protein (Select 14249386) - SNP

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 1:247301236 (GRCh38)
1:247464538 (GRCh37)
Canonical SPDI:: NC_000001.11:247301231:CTTCTTC:CTTC
Gene:: ZNF496 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTTC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.247301233TTC[1], NC_000001.10:g.247464535TTC[1], NW_025791757.1:g.67676TTC[1], NM_032752.3:c.1046AAG[1], NM_032752.2:c.1046AAG[1], NM_032752.1:c.1046AAG[1], NP_116141.1:p.Glu350del

Select item 14816789316.

rs1481678931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:247300879 (GRCh38)
1:247464181 (GRCh37)
Canonical SPDI:: NC_000001.11:247300878:G:A
Gene:: ZNF496 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.247300879G>A, NC_000001.10:g.247464181G>A, NW_025791757.1:g.67322G>A, NM_032752.3:c.1404C>T, NM_032752.2:c.1404C>T, NM_032752.1:c.1404C>T

Select item 14733145727.

rs1473314572 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:247308580 (GRCh38)
1:247471882 (GRCh37)
Canonical SPDI:: NC_000001.11:247308579:T:G
Gene:: ZNF496 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.247308580T>G, NC_000001.10:g.247471882T>G, NW_025791757.1:g.75023T>G, NM_032752.3:c.901A>C, NM_032752.2:c.901A>C, NM_032752.1:c.901A>C, NM_001329733.2:c.901A>C, NM_001329733.1:c.901A>C, NP_116141.1:p.Ser301Arg, NP_001316662.1:p.Ser301Arg

Select item 14707030038.

rs1470703003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:247300943 (GRCh38)
1:247464245 (GRCh37)
Canonical SPDI:: NC_000001.11:247300942:C:A
Gene:: ZNF496 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.247300943C>A, NC_000001.10:g.247464245C>A, NW_025791757.1:g.67386C>A, NM_032752.3:c.1340G>T, NM_032752.2:c.1340G>T, NM_032752.1:c.1340G>T, NP_116141.1:p.Ser447Ile

Select item 14700928819.

rs1470092881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:247301116 (GRCh38)
1:247464418 (GRCh37)
Canonical SPDI:: NC_000001.11:247301115:G:C
Gene:: ZNF496 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.247301116G>C, NC_000001.10:g.247464418G>C, NW_025791757.1:g.67559G>C, NM_032752.3:c.1167C>G, NM_032752.2:c.1167C>G, NM_032752.1:c.1167C>G, NP_116141.1:p.His389Gln

Select item 146716724110.

rs1467167241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:247329303 (GRCh38)
1:247492605 (GRCh37)
Canonical SPDI:: NC_000001.11:247329302:G:T
Gene:: ZNF496 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.247329303G>T, NC_000001.10:g.247492605G>T, NW_025791757.1:g.95746G>T, NM_032752.3:c.276C>A, NM_032752.2:c.276C>A, NM_032752.1:c.276C>A, NM_001329733.2:c.276C>A, NM_001329733.1:c.276C>A

Select item 146320983611.

rs1463209836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:247329441 (GRCh38)
1:247492743 (GRCh37)
Canonical SPDI:: NC_000001.11:247329440:G:A,NC_000001.11:247329440:G:C
Gene:: ZNF496 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.247329441G>A, NC_000001.11:g.247329441G>C, NC_000001.10:g.247492743G>A, NC_000001.10:g.247492743G>C, NW_025791757.1:g.95884G>A, NW_025791757.1:g.95884G>C, NM_032752.3:c.138C>T, NM_032752.3:c.138C>G, NM_032752.2:c.138C>T, NM_032752.2:c.138C>G, NM_032752.1:c.138C>T, NM_032752.1:c.138C>G, NM_001329733.2:c.138C>T, NM_001329733.2:c.138C>G, NM_001329733.1:c.138C>T, NM_001329733.1:c.138C>G

Select item 145796016112.

rs1457960161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:247329467 (GRCh38)
1:247492769 (GRCh37)
Canonical SPDI:: NC_000001.11:247329466:G:C
Gene:: ZNF496 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.247329467G>C, NC_000001.10:g.247492769G>C, NW_025791757.1:g.95910G>C, NM_032752.3:c.112C>G, NM_032752.2:c.112C>G, NM_032752.1:c.112C>G, NM_001329733.2:c.112C>G, NM_001329733.1:c.112C>G, NP_116141.1:p.Pro38Ala, NP_001316662.1:p.Pro38Ala

Select item 145532129813.

rs1455321298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:247329384 (GRCh38)
1:247492686 (GRCh37)
Canonical SPDI:: NC_000001.11:247329383:G:A
Gene:: ZNF496 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.247329384G>A, NC_000001.10:g.247492686G>A, NW_025791757.1:g.95827G>A, NM_032752.3:c.195C>T, NM_032752.2:c.195C>T, NM_032752.1:c.195C>T, NM_001329733.2:c.195C>T, NM_001329733.1:c.195C>T

Select item 145531502314.

rs1455315023 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:247301045 (GRCh38)
1:247464347 (GRCh37)
Canonical SPDI:: NC_000001.11:247301044:T:C
Gene:: ZNF496 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_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_000001.11:g.247301045T>C, NC_000001.10:g.247464347T>C, NW_025791757.1:g.67488T>C, NM_032752.3:c.1238A>G, NM_032752.2:c.1238A>G, NM_032752.1:c.1238A>G, NP_116141.1:p.Lys413Arg

Select item 145338243315.

rs1453382433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:247328784 (GRCh38)
1:247492086 (GRCh37)
Canonical SPDI:: NC_000001.11:247328783:G:A
Gene:: ZNF496 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.247328784G>A, NC_000001.10:g.247492086G>A, NW_025791757.1:g.95227G>A, NM_032752.3:c.473C>T, NM_032752.2:c.473C>T, NM_032752.1:c.473C>T, NM_001329733.2:c.473C>T, NM_001329733.1:c.473C>T, NP_116141.1:p.Pro158Leu, NP_001316662.1:p.Pro158Leu

Select item 145317195816.

rs1453171958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:247301042 (GRCh38)
1:247464344 (GRCh37)
Canonical SPDI:: NC_000001.11:247301041:A:G
Gene:: ZNF496 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.247301042A>G, NC_000001.10:g.247464344A>G, NW_025791757.1:g.67485A>G, NM_032752.3:c.1241T>C, NM_032752.2:c.1241T>C, NM_032752.1:c.1241T>C, NP_116141.1:p.Ile414Thr

Select item 145166244317.

rs1451662443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:247300584 (GRCh38)
1:247463886 (GRCh37)
Canonical SPDI:: NC_000001.11:247300583:C:T
Gene:: ZNF496 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.247300584C>T, NC_000001.10:g.247463886C>T, NW_025791757.1:g.67027C>T, NM_032752.3:c.1699G>A, NM_032752.2:c.1699G>A, NM_032752.1:c.1699G>A, NP_116141.1:p.Asp567Asn

Select item 144881569418.

rs1448815694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:247300549 (GRCh38)
1:247463851 (GRCh37)
Canonical SPDI:: NC_000001.11:247300548:G:C,NC_000001.11:247300548:G:T
Gene:: ZNF496 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.247300549G>C, NC_000001.11:g.247300549G>T, NC_000001.10:g.247463851G>C, NC_000001.10:g.247463851G>T, NW_025791757.1:g.66992G>C, NW_025791757.1:g.66992G>T, NM_032752.3:c.1734C>G, NM_032752.3:c.1734C>A, NM_032752.2:c.1734C>G, NM_032752.2:c.1734C>A, NM_032752.1:c.1734C>G, NM_032752.1:c.1734C>A

Select item 144819577219.

rs1448195772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:247301153 (GRCh38)
1:247464455 (GRCh37)
Canonical SPDI:: NC_000001.11:247301152:C:T
Gene:: ZNF496 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.247301153C>T, NC_000001.10:g.247464455C>T, NW_025791757.1:g.67596C>T, NM_032752.3:c.1130G>A, NM_032752.2:c.1130G>A, NM_032752.1:c.1130G>A, NP_116141.1:p.Ser377Asn

Select item 144816287720.

rs1448162877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:247300990 (GRCh38)
1:247464292 (GRCh37)
Canonical SPDI:: NC_000001.11:247300989:C:T
Gene:: ZNF496 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.247300990C>T, NC_000001.10:g.247464292C>T, NW_025791757.1:g.67433C>T, NM_032752.3:c.1293G>A, NM_032752.2:c.1293G>A, NM_032752.1:c.1293G>A

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