SNP Links for Protein (Select 356582445) - SNP

Links from Protein

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Select item 14888832801.

rs1488883280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:92843394 (GRCh38)
1:93308951 (GRCh37)
Canonical SPDI:: NC_000001.11:92843393:T:C
Gene:: DIPK1A (Varview)
Functional Consequence:: intron_variant,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)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.92843394T>C, NC_000001.10:g.93308951T>C, NG_011779.2:g.16409T>C, NG_033051.1:g.123129A>G, NM_001006605.5:c.1276A>G, NM_001006605.4:c.1276A>G, NM_001252271.2:c.1201A>G, NM_001252271.1:c.1201A>G, NM_001252269.2:c.1141A>G, NM_001252269.1:c.1141A>G, NM_001252270.2:c.1099A>G, NM_001252270.1:c.1099A>G, NP_001006606.2:p.Asn426Asp, NP_001239200.1:p.Asn401Asp, NP_001239198.1:p.Asn381Asp, NP_001239199.1:p.Asn367Asp

Select item 14888588902.

rs1488858890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:92843942 (GRCh38)
1:93309499 (GRCh37)
Canonical SPDI:: NC_000001.11:92843941:C:G
Gene:: DIPK1A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.00003/8 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000038/6 (GnomAD_exomes)
HGVS:: NC_000001.11:g.92843942C>G, NC_000001.10:g.93309499C>G, NG_033051.1:g.122581G>C, NM_001006605.5:c.728G>C, NM_001006605.4:c.728G>C, NM_001252271.2:c.653G>C, NM_001252271.1:c.653G>C, NM_001252269.2:c.593G>C, NM_001252269.1:c.593G>C, NM_001252270.2:c.551G>C, NM_001252270.1:c.551G>C, NP_001006606.2:p.Trp243Ser, NP_001239200.1:p.Trp218Ser, NP_001239198.1:p.Trp198Ser, NP_001239199.1:p.Trp184Ser

Select item 14853007703.

rs1485300770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:92843442 (GRCh38)
1:93308999 (GRCh37)
Canonical SPDI:: NC_000001.11:92843441:T:C
Gene:: DIPK1A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.92843442T>C, NC_000001.10:g.93308999T>C, NG_011779.2:g.16457T>C, NG_033051.1:g.123081A>G, NM_001006605.5:c.1228A>G, NM_001006605.4:c.1228A>G, NM_001252271.2:c.1153A>G, NM_001252271.1:c.1153A>G, NM_001252269.2:c.1093A>G, NM_001252269.1:c.1093A>G, NM_001252270.2:c.1051A>G, NM_001252270.1:c.1051A>G, NP_001006606.2:p.Ile410Val, NP_001239200.1:p.Ile385Val, NP_001239198.1:p.Ile365Val, NP_001239199.1:p.Ile351Val

Select item 14786417924.

rs1478641792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:92843985 (GRCh38)
1:93309542 (GRCh37)
Canonical SPDI:: NC_000001.11:92843984:C:A,NC_000001.11:92843984:C:G
Gene:: DIPK1A (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.92843985C>A, NC_000001.11:g.92843985C>G, NC_000001.10:g.93309542C>A, NC_000001.10:g.93309542C>G, NG_033051.1:g.122538G>T, NG_033051.1:g.122538G>C, NM_001006605.5:c.685G>T, NM_001006605.5:c.685G>C, NM_001006605.4:c.685G>T, NM_001006605.4:c.685G>C, NM_001252271.2:c.610G>T, NM_001252271.2:c.610G>C, NM_001252271.1:c.610G>T, NM_001252271.1:c.610G>C, NM_001252269.2:c.550G>T, NM_001252269.2:c.550G>C, NM_001252269.1:c.550G>T, NM_001252269.1:c.550G>C, NM_001252270.2:c.508G>T, NM_001252270.2:c.508G>C, NM_001252270.1:c.508G>T, NM_001252270.1:c.508G>C, NP_001006606.2:p.Glu229Ter, NP_001006606.2:p.Glu229Gln, NP_001239200.1:p.Glu204Ter, NP_001239200.1:p.Glu204Gln, NP_001239198.1:p.Glu184Ter, NP_001239198.1:p.Glu184Gln, NP_001239199.1:p.Glu170Ter, NP_001239199.1:p.Glu170Gln

Select item 14776789705.

rs1477678970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:92843416 (GRCh38)
1:93308973 (GRCh37)
Canonical SPDI:: NC_000001.11:92843415:C:T
Gene:: DIPK1A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.92843416C>T, NC_000001.10:g.93308973C>T, NG_011779.2:g.16431C>T, NG_033051.1:g.123107G>A, NM_001006605.5:c.1254G>A, NM_001006605.4:c.1254G>A, NM_001252271.2:c.1179G>A, NM_001252271.1:c.1179G>A, NM_001252269.2:c.1119G>A, NM_001252269.1:c.1119G>A, NM_001252270.2:c.1077G>A, NM_001252270.1:c.1077G>A

Select item 14769539366.

rs1476953936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:92843829 (GRCh38)
1:93309386 (GRCh37)
Canonical SPDI:: NC_000001.11:92843828:C:A
Gene:: DIPK1A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000094/1 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.92843829C>A, NC_000001.10:g.93309386C>A, NG_011779.2:g.16844C>A, NG_033051.1:g.122694G>T, NM_001006605.5:c.841G>T, NM_001006605.4:c.841G>T, NM_001252271.2:c.766G>T, NM_001252271.1:c.766G>T, NM_001252269.2:c.706G>T, NM_001252269.1:c.706G>T, NM_001252270.2:c.664G>T, NM_001252270.1:c.664G>T, NP_001006606.2:p.Asp281Tyr, NP_001239200.1:p.Asp256Tyr, NP_001239198.1:p.Asp236Tyr, NP_001239199.1:p.Asp222Tyr

Select item 14751980897.

rs1475198089 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:92847236 (GRCh38)
1:93312793 (GRCh37)
Canonical SPDI:: NC_000001.11:92847235:T:G
Gene:: DIPK1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.92847236T>G, NC_000001.10:g.93312793T>G, NG_033051.1:g.119287A>C, NM_001006605.5:c.421A>C, NM_001006605.4:c.421A>C, NM_001252271.2:c.346A>C, NM_001252271.1:c.346A>C, NM_001252269.2:c.286A>C, NM_001252269.1:c.286A>C, NM_001252273.2:c.421A>C, NM_001252273.1:c.421A>C, NP_001006606.2:p.Thr141Pro, NP_001239200.1:p.Thr116Pro, NP_001239198.1:p.Thr96Pro, NP_001239202.1:p.Thr141Pro

Select item 14750627068.

rs1475062706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:92843703 (GRCh38)
1:93309260 (GRCh37)
Canonical SPDI:: NC_000001.11:92843702:T:C
Gene:: DIPK1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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.92843703T>C, NC_000001.10:g.93309260T>C, NG_011779.2:g.16718T>C, NG_033051.1:g.122820A>G, NM_001006605.5:c.967A>G, NM_001006605.4:c.967A>G, NM_001252271.2:c.892A>G, NM_001252271.1:c.892A>G, NM_001252269.2:c.832A>G, NM_001252269.1:c.832A>G, NM_001252270.2:c.790A>G, NM_001252270.1:c.790A>G, NP_001006606.2:p.Lys323Glu, NP_001239200.1:p.Lys298Glu, NP_001239198.1:p.Lys278Glu, NP_001239199.1:p.Lys264Glu

Select item 14733855059.

rs1473385505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:92843879 (GRCh38)
1:93309436 (GRCh37)
Canonical SPDI:: NC_000001.11:92843878:G:A
Gene:: DIPK1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.92843879G>A, NC_000001.10:g.93309436G>A, NG_011779.2:g.16894G>A, NG_033051.1:g.122644C>T, NM_001006605.5:c.791C>T, NM_001006605.4:c.791C>T, NM_001252271.2:c.716C>T, NM_001252271.1:c.716C>T, NM_001252269.2:c.656C>T, NM_001252269.1:c.656C>T, NM_001252270.2:c.614C>T, NM_001252270.1:c.614C>T, NP_001006606.2:p.Ser264Leu, NP_001239200.1:p.Ser239Leu, NP_001239198.1:p.Ser219Leu, NP_001239199.1:p.Ser205Leu

Select item 146856041210.

rs1468560412 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:92843557 (GRCh38)
1:93309114 (GRCh37)
Canonical SPDI:: NC_000001.11:92843556:T:G
Gene:: DIPK1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.92843557T>G, NC_000001.10:g.93309114T>G, NG_011779.2:g.16572T>G, NG_033051.1:g.122966A>C, NM_001006605.5:c.1113A>C, NM_001006605.4:c.1113A>C, NM_001252271.2:c.1038A>C, NM_001252271.1:c.1038A>C, NM_001252269.2:c.978A>C, NM_001252269.1:c.978A>C, NM_001252270.2:c.936A>C, NM_001252270.1:c.936A>C, NP_001006606.2:p.Lys371Asn, NP_001239200.1:p.Lys346Asn, NP_001239198.1:p.Lys326Asn, NP_001239199.1:p.Lys312Asn

Select item 146792982111.

rs1467929821 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:92850879 (GRCh38)
1:93316436 (GRCh37)
Canonical SPDI:: NC_000001.11:92850878:CC:C
Gene:: DIPK1A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.92850880del, NC_000001.10:g.93316437del, NG_033051.1:g.115644del, NM_001006605.5:c.266del, NM_001006605.4:c.266del, NM_001252271.2:c.191del, NM_001252271.1:c.191del, NM_001252269.2:c.131del, NM_001252269.1:c.131del, NM_001252270.2:c.266del, NM_001252270.1:c.266del, NM_001252273.2:c.266del, NM_001252273.1:c.266del, NP_001006606.2:p.Gly89fs, NP_001239200.1:p.Gly64fs, NP_001239198.1:p.Gly44fs, NP_001239199.1:p.Gly89fs, NP_001239202.1:p.Gly89fs

Select item 146479144112.

rs1464791441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:92847335 (GRCh38)
1:93312892 (GRCh37)
Canonical SPDI:: NC_000001.11:92847334:G:A
Gene:: DIPK1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.92847335G>A, NC_000001.10:g.93312892G>A, NG_033051.1:g.119188C>T, NM_001006605.5:c.322C>T, NM_001006605.4:c.322C>T, NM_001252271.2:c.247C>T, NM_001252271.1:c.247C>T, NM_001252269.2:c.187C>T, NM_001252269.1:c.187C>T, NM_001252273.2:c.322C>T, NM_001252273.1:c.322C>T

Select item 146099388813.

rs1460993888 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:92843771 (GRCh38)
1:93309328 (GRCh37)
Canonical SPDI:: NC_000001.11:92843770:A:G
Gene:: DIPK1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
HGVS:: NC_000001.11:g.92843771A>G, NC_000001.10:g.93309328A>G, NG_011779.2:g.16786A>G, NG_033051.1:g.122752T>C, NM_001006605.5:c.899T>C, NM_001006605.4:c.899T>C, NM_001252271.2:c.824T>C, NM_001252271.1:c.824T>C, NM_001252269.2:c.764T>C, NM_001252269.1:c.764T>C, NM_001252270.2:c.722T>C, NM_001252270.1:c.722T>C, NP_001006606.2:p.Leu300Pro, NP_001239200.1:p.Leu275Pro, NP_001239198.1:p.Leu255Pro, NP_001239199.1:p.Leu241Pro

Select item 145923250814.

rs1459232508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:92843794 (GRCh38)
1:93309351 (GRCh37)
Canonical SPDI:: NC_000001.11:92843793:C:T
Gene:: DIPK1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.92843794C>T, NC_000001.10:g.93309351C>T, NG_011779.2:g.16809C>T, NG_033051.1:g.122729G>A, NM_001006605.5:c.876G>A, NM_001006605.4:c.876G>A, NM_001252271.2:c.801G>A, NM_001252271.1:c.801G>A, NM_001252269.2:c.741G>A, NM_001252269.1:c.741G>A, NM_001252270.2:c.699G>A, NM_001252270.1:c.699G>A, NP_001006606.2:p.Met292Ile, NP_001239200.1:p.Met267Ile, NP_001239198.1:p.Met247Ile, NP_001239199.1:p.Met233Ile

Select item 145918881415.

rs1459188814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:92850934 (GRCh38)
1:93316491 (GRCh37)
Canonical SPDI:: NC_000001.11:92850933:C:T
Gene:: DIPK1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.92850934C>T, NC_000001.10:g.93316491C>T, NG_033051.1:g.115589G>A, NM_001006605.5:c.211G>A, NM_001006605.4:c.211G>A, NM_001252271.2:c.136G>A, NM_001252271.1:c.136G>A, NM_001252269.2:c.76G>A, NM_001252269.1:c.76G>A, NM_001252270.2:c.211G>A, NM_001252270.1:c.211G>A, NM_001252273.2:c.211G>A, NM_001252273.1:c.211G>A, NP_001006606.2:p.Val71Ile, NP_001239200.1:p.Val46Ile, NP_001239198.1:p.Val26Ile, NP_001239199.1:p.Val71Ile, NP_001239202.1:p.Val71Ile

Select item 145448588716.

rs1454485887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:92844171 (GRCh38)
1:93309728 (GRCh37)
Canonical SPDI:: NC_000001.11:92844170:G:A
Gene:: DIPK1A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.92844171G>A, NC_000001.10:g.93309728G>A, NG_033051.1:g.122352C>T, NM_001006605.5:c.499C>T, NM_001006605.4:c.499C>T, NM_001252271.2:c.424C>T, NM_001252271.1:c.424C>T, NM_001252269.2:c.364C>T, NM_001252269.1:c.364C>T, NM_001252270.2:c.322C>T, NM_001252270.1:c.322C>T, NP_001006606.2:p.Leu167Phe, NP_001239200.1:p.Leu142Phe, NP_001239198.1:p.Leu122Phe, NP_001239199.1:p.Leu108Phe

Select item 145444973417.

rs1454449734 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:92843392 (GRCh38)
1:93308949 (GRCh37)
Canonical SPDI:: NC_000001.11:92843391:A:G
Gene:: DIPK1A (Varview)
Functional Consequence:: coding_sequence_variant,intron_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_000001.11:g.92843392A>G, NC_000001.10:g.93308949A>G, NG_011779.2:g.16407A>G, NG_033051.1:g.123131T>C, NM_001006605.5:c.1278T>C, NM_001006605.4:c.1278T>C, NM_001252271.2:c.1203T>C, NM_001252271.1:c.1203T>C, NM_001252269.2:c.1143T>C, NM_001252269.1:c.1143T>C, NM_001252270.2:c.1101T>C, NM_001252270.1:c.1101T>C

Select item 145293586818.

rs1452935868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:92843702 (GRCh38)
1:93309259 (GRCh37)
Canonical SPDI:: NC_000001.11:92843701:T:C
Gene:: DIPK1A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.92843702T>C, NC_000001.10:g.93309259T>C, NG_011779.2:g.16717T>C, NG_033051.1:g.122821A>G, NM_001006605.5:c.968A>G, NM_001006605.4:c.968A>G, NM_001252271.2:c.893A>G, NM_001252271.1:c.893A>G, NM_001252269.2:c.833A>G, NM_001252269.1:c.833A>G, NM_001252270.2:c.791A>G, NM_001252270.1:c.791A>G, NP_001006606.2:p.Lys323Arg, NP_001239200.1:p.Lys298Arg, NP_001239198.1:p.Lys278Arg, NP_001239199.1:p.Lys264Arg

Select item 145284508319.

rs1452845083 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:92843386 (GRCh38)
1:93308943 (GRCh37)
Canonical SPDI:: NC_000001.11:92843385:A:G
Gene:: DIPK1A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.92843386A>G, NC_000001.10:g.93308943A>G, NG_011779.2:g.16401A>G, NG_033051.1:g.123137T>C, NM_001006605.5:c.1284T>C, NM_001006605.4:c.1284T>C, NM_001252271.2:c.1209T>C, NM_001252271.1:c.1209T>C, NM_001252269.2:c.1149T>C, NM_001252269.1:c.1149T>C, NM_001252270.2:c.1107T>C, NM_001252270.1:c.1107T>C

Select item 144976577020.

rs1449765770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:92843951 (GRCh38)
1:93309508 (GRCh37)
Canonical SPDI:: NC_000001.11:92843950:C:T
Gene:: DIPK1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000013/2 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.92843951C>T, NC_000001.10:g.93309508C>T, NG_033051.1:g.122572G>A, NM_001006605.5:c.719G>A, NM_001006605.4:c.719G>A, NM_001252271.2:c.644G>A, NM_001252271.1:c.644G>A, NM_001252269.2:c.584G>A, NM_001252269.1:c.584G>A, NM_001252270.2:c.542G>A, NM_001252270.1:c.542G>A, NP_001006606.2:p.Ser240Asn, NP_001239200.1:p.Ser215Asn, NP_001239198.1:p.Ser195Asn, NP_001239199.1:p.Ser181Asn

dbSNP

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