SNP Links for Protein (Select 212549782) - SNP

Links from Protein

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Select item 14900945601.

rs1490094560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:89866254 (GRCh38)
6:90575973 (GRCh37)
Canonical SPDI:: NC_000006.12:89866253:A:C,NC_000006.12:89866253:A:G
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.89866254A>C, NC_000006.12:g.89866254A>G, NC_000006.11:g.90575973A>C, NC_000006.11:g.90575973A>G, NW_017363815.1:g.61599A>C, NW_017363815.1:g.61599A>G, NM_012115.4:c.2964A>C, NM_012115.4:c.2964A>G, NM_012115.3:c.2964A>C, NM_012115.3:c.2964A>G, NM_001137667.2:c.2964A>C, NM_001137667.2:c.2964A>G, NM_001137667.1:c.2964A>C, NM_001137667.1:c.2964A>G, NM_001137668.2:c.2964A>C, NM_001137668.2:c.2964A>G, NM_001137668.1:c.2964A>C, NM_001137668.1:c.2964A>G

Select item 14895628052.

rs1489562805 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:89862193 (GRCh38)
6:90571912 (GRCh37)
Canonical SPDI:: NC_000006.12:89862192:A:C
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.89862193A>C, NC_000006.11:g.90571912A>C, NW_017363815.1:g.57538A>C, NM_012115.4:c.484A>C, NM_012115.3:c.484A>C, NM_001137667.2:c.484A>C, NM_001137667.1:c.484A>C, NM_001137668.2:c.484A>C, NM_001137668.1:c.484A>C, NP_036247.1:p.Lys162Gln, NP_001131139.1:p.Lys162Gln, NP_001131140.1:p.Lys162Gln

Select item 14891453233.

rs1489145323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:89862616 (GRCh38)
6:90572335 (GRCh37)
Canonical SPDI:: NC_000006.12:89862615:T:G
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.89862616T>G, NC_000006.11:g.90572335T>G, NW_017363815.1:g.57961T>G, NM_012115.4:c.907T>G, NM_012115.3:c.907T>G, NM_001137667.2:c.907T>G, NM_001137667.1:c.907T>G, NM_001137668.2:c.907T>G, NM_001137668.1:c.907T>G, NP_036247.1:p.Ser303Ala, NP_001131139.1:p.Ser303Ala, NP_001131140.1:p.Ser303Ala

Select item 14891207214.

rs1489120721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:89866705 (GRCh38)
6:90576424 (GRCh37)
Canonical SPDI:: NC_000006.12:89866704:C:T
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.89866705C>T, NC_000006.11:g.90576424C>T, NW_017363815.1:g.62050C>T, NM_012115.4:c.3415C>T, NM_012115.3:c.3415C>T, NM_001137667.2:c.3415C>T, NM_001137667.1:c.3415C>T, NM_001137668.2:c.3415C>T, NM_001137668.1:c.3415C>T, NP_036247.1:p.Leu1139Phe, NP_001131139.1:p.Leu1139Phe, NP_001131140.1:p.Leu1139Phe

Select item 14881438215.

rs1488143821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:89868872 (GRCh38)
6:90578591 (GRCh37)
Canonical SPDI:: NC_000006.12:89868871:C:T
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.89868872C>T, NC_000006.11:g.90578591C>T, NW_017363815.1:g.64217C>T, NM_012115.4:c.5582C>T, NM_012115.3:c.5582C>T, NM_001137667.2:c.5582C>T, NM_001137667.1:c.5582C>T, NM_001137668.2:c.5582C>T, NM_001137668.1:c.5582C>T, NP_036247.1:p.Thr1861Ile, NP_001131139.1:p.Thr1861Ile, NP_001131140.1:p.Thr1861Ile

Select item 14879013676.

rs1487901367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:89871366 (GRCh38)
6:90581085 (GRCh37)
Canonical SPDI:: NC_000006.12:89871365:A:G
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.89871366A>G, NC_000006.11:g.90581085A>G, NW_017363815.1:g.66711A>G, NM_012115.4:c.5870A>G, NM_012115.3:c.5870A>G, NM_001137667.2:c.5870A>G, NM_001137667.1:c.5870A>G, NM_001137668.2:c.5870A>G, NM_001137668.1:c.5870A>G, NP_036247.1:p.Lys1957Arg, NP_001131139.1:p.Lys1957Arg, NP_001131140.1:p.Lys1957Arg

Select item 14875896857.

rs1487589685 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:89867077 (GRCh38)
6:90576796 (GRCh37)
Canonical SPDI:: NC_000006.12:89867076:A:G
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.89867077A>G, NC_000006.11:g.90576796A>G, NW_017363815.1:g.62422A>G, NM_012115.4:c.3787A>G, NM_012115.3:c.3787A>G, NM_001137667.2:c.3787A>G, NM_001137667.1:c.3787A>G, NM_001137668.2:c.3787A>G, NM_001137668.1:c.3787A>G, NP_036247.1:p.Lys1263Glu, NP_001131139.1:p.Lys1263Glu, NP_001131140.1:p.Lys1263Glu

Select item 14872748848.

rs1487274884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:89862741 (GRCh38)
6:90572460 (GRCh37)
Canonical SPDI:: NC_000006.12:89862740:A:G
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.89862741A>G, NC_000006.11:g.90572460A>G, NW_017363815.1:g.58086A>G, NM_012115.4:c.1032A>G, NM_012115.3:c.1032A>G, NM_001137667.2:c.1032A>G, NM_001137667.1:c.1032A>G, NM_001137668.2:c.1032A>G, NM_001137668.1:c.1032A>G

Select item 14871694019.

rs1487169401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:89864138 (GRCh38)
6:90573857 (GRCh37)
Canonical SPDI:: NC_000006.12:89864137:A:G
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.89864138A>G, NC_000006.11:g.90573857A>G, NW_017363815.1:g.59483A>G, NM_012115.4:c.2429A>G, NM_012115.3:c.2429A>G, NM_001137667.2:c.2429A>G, NM_001137667.1:c.2429A>G, NM_001137668.2:c.2429A>G, NM_001137668.1:c.2429A>G, NP_036247.1:p.Glu810Gly, NP_001131139.1:p.Glu810Gly, NP_001131140.1:p.Glu810Gly

Select item 148709870110.

rs1487098701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:89866813 (GRCh38)
6:90576532 (GRCh37)
Canonical SPDI:: NC_000006.12:89866812:C:G,NC_000006.12:89866812:C:T
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.89866813C>G, NC_000006.12:g.89866813C>T, NC_000006.11:g.90576532C>G, NC_000006.11:g.90576532C>T, NW_017363815.1:g.62158C>G, NW_017363815.1:g.62158C>T, NM_012115.4:c.3523C>G, NM_012115.4:c.3523C>T, NM_012115.3:c.3523C>G, NM_012115.3:c.3523C>T, NM_001137667.2:c.3523C>G, NM_001137667.2:c.3523C>T, NM_001137667.1:c.3523C>G, NM_001137667.1:c.3523C>T, NM_001137668.2:c.3523C>G, NM_001137668.2:c.3523C>T, NM_001137668.1:c.3523C>G, NM_001137668.1:c.3523C>T, NP_036247.1:p.Gln1175Glu, NP_036247.1:p.Gln1175Ter, NP_001131139.1:p.Gln1175Glu, NP_001131139.1:p.Gln1175Ter, NP_001131140.1:p.Gln1175Glu, NP_001131140.1:p.Gln1175Ter

Select item 148632400111.

rs1486324001 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:89864286 (GRCh38)
6:90574005 (GRCh37)
Canonical SPDI:: NC_000006.12:89864285:T:C
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.89864286T>C, NC_000006.11:g.90574005T>C, NW_017363815.1:g.59631T>C, NM_012115.4:c.2577T>C, NM_012115.3:c.2577T>C, NM_001137667.2:c.2577T>C, NM_001137667.1:c.2577T>C, NM_001137668.2:c.2577T>C, NM_001137668.1:c.2577T>C

Select item 148593356512.

rs1485933565 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:89868459 (GRCh38)
6:90578178 (GRCh37)
Canonical SPDI:: NC_000006.12:89868458:A:G,NC_000006.12:89868458:A:T
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.89868459A>G, NC_000006.12:g.89868459A>T, NC_000006.11:g.90578178A>G, NC_000006.11:g.90578178A>T, NW_017363815.1:g.63804A>G, NW_017363815.1:g.63804A>T, NM_012115.4:c.5169A>G, NM_012115.4:c.5169A>T, NM_012115.3:c.5169A>G, NM_012115.3:c.5169A>T, NM_001137667.2:c.5169A>G, NM_001137667.2:c.5169A>T, NM_001137667.1:c.5169A>G, NM_001137667.1:c.5169A>T, NM_001137668.2:c.5169A>G, NM_001137668.2:c.5169A>T, NM_001137668.1:c.5169A>G, NM_001137668.1:c.5169A>T, NP_036247.1:p.Gln1723His, NP_001131139.1:p.Gln1723His, NP_001131140.1:p.Gln1723His

Select item 148524638813.

rs1485246388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:89863007 (GRCh38)
6:90572726 (GRCh37)
Canonical SPDI:: NC_000006.12:89863006:G:A,NC_000006.12:89863006:G:T
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.89863007G>A, NC_000006.12:g.89863007G>T, NC_000006.11:g.90572726G>A, NC_000006.11:g.90572726G>T, NW_017363815.1:g.58352G>A, NW_017363815.1:g.58352G>T, NM_012115.4:c.1298G>A, NM_012115.4:c.1298G>T, NM_012115.3:c.1298G>A, NM_012115.3:c.1298G>T, NM_001137667.2:c.1298G>A, NM_001137667.2:c.1298G>T, NM_001137667.1:c.1298G>A, NM_001137667.1:c.1298G>T, NM_001137668.2:c.1298G>A, NM_001137668.2:c.1298G>T, NM_001137668.1:c.1298G>A, NM_001137668.1:c.1298G>T, NP_036247.1:p.Cys433Tyr, NP_036247.1:p.Cys433Phe, NP_001131139.1:p.Cys433Tyr, NP_001131139.1:p.Cys433Phe, NP_001131140.1:p.Cys433Tyr, NP_001131140.1:p.Cys433Phe

Select item 148519722514.

rs1485197225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:89863727 (GRCh38)
6:90573446 (GRCh37)
Canonical SPDI:: NC_000006.12:89863726:C:G,NC_000006.12:89863726:C:T
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.89863727C>G, NC_000006.12:g.89863727C>T, NC_000006.11:g.90573446C>G, NC_000006.11:g.90573446C>T, NW_017363815.1:g.59072C>G, NW_017363815.1:g.59072C>T, NM_012115.4:c.2018C>G, NM_012115.4:c.2018C>T, NM_012115.3:c.2018C>G, NM_012115.3:c.2018C>T, NM_001137667.2:c.2018C>G, NM_001137667.2:c.2018C>T, NM_001137667.1:c.2018C>G, NM_001137667.1:c.2018C>T, NM_001137668.2:c.2018C>G, NM_001137668.2:c.2018C>T, NM_001137668.1:c.2018C>G, NM_001137668.1:c.2018C>T, NP_036247.1:p.Pro673Arg, NP_036247.1:p.Pro673Leu, NP_001131139.1:p.Pro673Arg, NP_001131139.1:p.Pro673Leu, NP_001131140.1:p.Pro673Arg, NP_001131140.1:p.Pro673Leu

Select item 148412745915.

rs1484127459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:89868336 (GRCh38)
6:90578055 (GRCh37)
Canonical SPDI:: NC_000006.12:89868335:A:G
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.89868336A>G, NC_000006.11:g.90578055A>G, NW_017363815.1:g.63681A>G, NM_012115.4:c.5046A>G, NM_012115.3:c.5046A>G, NM_001137667.2:c.5046A>G, NM_001137667.1:c.5046A>G, NM_001137668.2:c.5046A>G, NM_001137668.1:c.5046A>G

Select item 148341499416.

rs1483414994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:89866952 (GRCh38)
6:90576671 (GRCh37)
Canonical SPDI:: NC_000006.12:89866951:A:G
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.89866952A>G, NC_000006.11:g.90576671A>G, NW_017363815.1:g.62297A>G, NM_012115.4:c.3662A>G, NM_012115.3:c.3662A>G, NM_001137667.2:c.3662A>G, NM_001137667.1:c.3662A>G, NM_001137668.2:c.3662A>G, NM_001137668.1:c.3662A>G, NP_036247.1:p.Gln1221Arg, NP_001131139.1:p.Gln1221Arg, NP_001131140.1:p.Gln1221Arg

Select item 148305915817.

rs1483059158 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:89868499 (GRCh38)
6:90578218 (GRCh37)
Canonical SPDI:: NC_000006.12:89868498:T:G
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.89868499T>G, NC_000006.11:g.90578218T>G, NW_017363815.1:g.63844T>G, NM_012115.4:c.5209T>G, NM_012115.3:c.5209T>G, NM_001137667.2:c.5209T>G, NM_001137667.1:c.5209T>G, NM_001137668.2:c.5209T>G, NM_001137668.1:c.5209T>G, NP_036247.1:p.Phe1737Val, NP_001131139.1:p.Phe1737Val, NP_001131140.1:p.Phe1737Val

Select item 148304621618.

rs1483046216 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:89867425 (GRCh38)
6:90577144 (GRCh37)
Canonical SPDI:: NC_000006.12:89867424:T:G
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.89867425T>G, NC_000006.11:g.90577144T>G, NW_017363815.1:g.62770T>G, NM_012115.4:c.4135T>G, NM_012115.3:c.4135T>G, NM_001137667.2:c.4135T>G, NM_001137667.1:c.4135T>G, NM_001137668.2:c.4135T>G, NM_001137668.1:c.4135T>G, NP_036247.1:p.Trp1379Gly, NP_001131139.1:p.Trp1379Gly, NP_001131140.1:p.Trp1379Gly

Select item 148213811119.

rs1482138111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:89864357 (GRCh38)
6:90574076 (GRCh37)
Canonical SPDI:: NC_000006.12:89864356:A:G
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.89864357A>G, NC_000006.11:g.90574076A>G, NW_017363815.1:g.59702A>G, NM_012115.4:c.2648A>G, NM_012115.3:c.2648A>G, NM_001137667.2:c.2648A>G, NM_001137667.1:c.2648A>G, NM_001137668.2:c.2648A>G, NM_001137668.1:c.2648A>G, NP_036247.1:p.Asn883Ser, NP_001131139.1:p.Asn883Ser, NP_001131140.1:p.Asn883Ser

Select item 148188684720.

rs1481886847 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:89867522 (GRCh38)
6:90577241 (GRCh37)
Canonical SPDI:: NC_000006.12:89867521:T:G
Gene:: CASP8AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.89867522T>G, NC_000006.11:g.90577241T>G, NW_017363815.1:g.62867T>G, NM_012115.4:c.4232T>G, NM_012115.3:c.4232T>G, NM_001137667.2:c.4232T>G, NM_001137667.1:c.4232T>G, NM_001137668.2:c.4232T>G, NM_001137668.1:c.4232T>G, NP_036247.1:p.Val1411Gly, NP_001131139.1:p.Val1411Gly, NP_001131140.1:p.Val1411Gly

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