SNP Links for Protein (Select 767966149) - SNP

Links from Protein

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Select item 14887805281.

rs1488780528 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:799889 (GRCh38)
11:799889 (GRCh37)
Canonical SPDI:: NC_000011.10:799888:A:G
Gene:: PIDD1 (Varview), SLC25A22 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_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_000011.10:g.799889A>G, NC_000011.9:g.799889A>G, NG_023407.1:g.3381T>C, XM_005253005.6:c.2472T>C, XM_005253005.5:c.2472T>C, XM_005253005.4:c.2472T>C, XM_005253005.3:c.2472T>C, XM_005253005.2:c.2472T>C, XM_005253005.1:c.2472T>C, XM_005253006.6:c.2472T>C, XM_005253006.5:c.2472T>C, XM_005253006.4:c.2472T>C, XM_005253006.3:c.2472T>C, XM_005253006.2:c.2472T>C, XM_005253006.1:c.2472T>C, XM_011520210.4:c.2400T>C, XM_011520210.3:c.2400T>C, XM_011520210.2:c.2400T>C, XM_011520210.1:c.2400T>C, XM_011520209.4:c.2430T>C, XM_011520209.3:c.2430T>C, XM_011520209.2:c.2430T>C, XM_011520209.1:c.2430T>C, NM_145886.4:c.2400T>C, NM_145886.3:c.2400T>C, NM_145887.4:c.2349T>C, NM_145887.3:c.2349T>C, NM_018494.3:c.1929T>C, XM_011520212.3:c.2034T>C, XM_011520212.2:c.2034T>C, XM_011520212.1:c.2034T>C, XM_011520213.3:c.1533T>C, XM_011520213.2:c.1533T>C, XM_011520213.1:c.1533T>C, NM_018494.2:c.1929T>C, XM_047427238.1:c.2553T>C, XM_047427239.1:c.2502T>C, XM_047427240.1:c.2481T>C, XM_047427241.1:c.1983T>C, XM_047427242.1:c.1962T>C, XM_047427243.1:c.1911T>C, XM_047427245.1:c.1533T>C, XM_047427246.1:c.1461T>C, NM_018494.1:c.1929T>C

Select item 14880378442.

rs1488037844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:800768 (GRCh38)
11:800768 (GRCh37)
Canonical SPDI:: NC_000011.10:800767:T:C
Gene:: PIDD1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.800768T>C, NC_000011.9:g.800768T>C, NG_023407.1:g.2502A>G, XM_005253005.6:c.1983A>G, XM_005253005.5:c.1983A>G, XM_005253005.4:c.1983A>G, XM_005253005.3:c.1983A>G, XM_005253005.2:c.1983A>G, XM_005253005.1:c.1983A>G, XM_005253006.6:c.1983A>G, XM_005253006.5:c.1983A>G, XM_005253006.4:c.1983A>G, XM_005253006.3:c.1983A>G, XM_005253006.2:c.1983A>G, XM_005253006.1:c.1983A>G, XM_011520210.4:c.1911A>G, XM_011520210.3:c.1911A>G, XM_011520210.2:c.1911A>G, XM_011520210.1:c.1911A>G, XM_011520209.4:c.1992A>G, XM_011520209.3:c.1992A>G, XM_011520209.2:c.1992A>G, XM_011520209.1:c.1992A>G, NM_145886.4:c.1911A>G, NM_145886.3:c.1911A>G, NM_145887.4:c.1911A>G, NM_145887.3:c.1911A>G, NM_018494.3:c.1440A>G, XM_011520212.3:c.1545A>G, XM_011520212.2:c.1545A>G, XM_011520212.1:c.1545A>G, XM_011520213.3:c.1044A>G, XM_011520213.2:c.1044A>G, XM_011520213.1:c.1044A>G, NM_018494.2:c.1440A>G, XM_047427238.1:c.2064A>G, XM_047427239.1:c.2064A>G, XM_047427240.1:c.1992A>G, XM_047427241.1:c.1545A>G, XM_047427242.1:c.1473A>G, XM_047427243.1:c.1473A>G, XM_047427244.1:c.*28A>G, XM_047427245.1:c.1044A>G, XM_047427246.1:c.972A>G, NM_018494.1:c.1440A>G

Select item 14875991273.

rs1487599127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:801069 (GRCh38)
11:801069 (GRCh37)
Canonical SPDI:: NC_000011.10:801068:G:A
Gene:: PIDD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.801069G>A, NC_000011.9:g.801069G>A, NG_023407.1:g.2201C>T, XM_005253005.6:c.1682C>T, XM_005253005.5:c.1682C>T, XM_005253005.4:c.1682C>T, XM_005253005.3:c.1682C>T, XM_005253005.2:c.1682C>T, XM_005253005.1:c.1682C>T, XM_005253006.6:c.1682C>T, XM_005253006.5:c.1682C>T, XM_005253006.4:c.1682C>T, XM_005253006.3:c.1682C>T, XM_005253006.2:c.1682C>T, XM_005253006.1:c.1682C>T, XM_011520210.4:c.1682C>T, XM_011520210.3:c.1682C>T, XM_011520210.2:c.1682C>T, XM_011520210.1:c.1682C>T, XM_011520209.4:c.1763C>T, XM_011520209.3:c.1763C>T, XM_011520209.2:c.1763C>T, XM_011520209.1:c.1763C>T, NM_145886.4:c.1682C>T, NM_145886.3:c.1682C>T, NM_145887.4:c.1682C>T, NM_145887.3:c.1682C>T, NM_018494.3:c.1244C>T, XM_011520212.3:c.1244C>T, XM_011520212.2:c.1244C>T, XM_011520212.1:c.1244C>T, XM_011520213.3:c.743C>T, XM_011520213.2:c.743C>T, XM_011520213.1:c.743C>T, NM_018494.2:c.1244C>T, XM_047427238.1:c.1763C>T, XM_047427239.1:c.1763C>T, XM_047427240.1:c.1763C>T, XM_047427241.1:c.1244C>T, XM_047427242.1:c.1244C>T, XM_047427243.1:c.1244C>T, XM_047427244.1:c.1763C>T, XM_047427245.1:c.743C>T, XM_047427246.1:c.743C>T, NM_018494.1:c.1244C>T, XP_005253062.1:p.Ala561Val, XP_005253063.1:p.Ala561Val, XP_011518512.1:p.Ala561Val, XP_011518511.1:p.Ala588Val, NP_665893.2:p.Ala561Val, NP_665894.2:p.Ala561Val, XP_011518514.1:p.Ala415Val, XP_011518515.1:p.Ala248Val, XP_047283194.1:p.Ala588Val, XP_047283195.1:p.Ala588Val, XP_047283196.1:p.Ala588Val, XP_047283197.1:p.Ala415Val, XP_047283198.1:p.Ala415Val, XP_047283199.1:p.Ala415Val, XP_047283200.1:p.Ala588Val, XP_047283201.1:p.Ala248Val, XP_047283202.1:p.Ala248Val

Select item 14857390054.

rs1485739005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:800995 (GRCh38)
11:800995 (GRCh37)
Canonical SPDI:: NC_000011.10:800994:G:A
Gene:: PIDD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.800995G>A, NC_000011.9:g.800995G>A, NG_023407.1:g.2275C>T, XM_005253005.6:c.1756C>T, XM_005253005.5:c.1756C>T, XM_005253005.4:c.1756C>T, XM_005253005.3:c.1756C>T, XM_005253005.2:c.1756C>T, XM_005253005.1:c.1756C>T, XM_005253006.6:c.1756C>T, XM_005253006.5:c.1756C>T, XM_005253006.4:c.1756C>T, XM_005253006.3:c.1756C>T, XM_005253006.2:c.1756C>T, XM_005253006.1:c.1756C>T, XM_011520210.4:c.1756C>T, XM_011520210.3:c.1756C>T, XM_011520210.2:c.1756C>T, XM_011520210.1:c.1756C>T, XM_011520209.4:c.1837C>T, XM_011520209.3:c.1837C>T, XM_011520209.2:c.1837C>T, XM_011520209.1:c.1837C>T, NM_145886.4:c.1756C>T, NM_145886.3:c.1756C>T, NM_145887.4:c.1756C>T, NM_145887.3:c.1756C>T, XM_011520212.3:c.1318C>T, XM_011520212.2:c.1318C>T, XM_011520212.1:c.1318C>T, XM_011520213.3:c.817C>T, XM_011520213.2:c.817C>T, XM_011520213.1:c.817C>T, XM_047427238.1:c.1837C>T, XM_047427239.1:c.1837C>T, XM_047427240.1:c.1837C>T, XM_047427241.1:c.1318C>T, XM_047427242.1:c.1318C>T, XM_047427243.1:c.1318C>T, XM_047427245.1:c.817C>T, XM_047427246.1:c.817C>T, XP_005253062.1:p.His586Tyr, XP_005253063.1:p.His586Tyr, XP_011518512.1:p.His586Tyr, XP_011518511.1:p.His613Tyr, NP_665893.2:p.His586Tyr, NP_665894.2:p.His586Tyr, XP_011518514.1:p.His440Tyr, XP_011518515.1:p.His273Tyr, XP_047283194.1:p.His613Tyr, XP_047283195.1:p.His613Tyr, XP_047283196.1:p.His613Tyr, XP_047283197.1:p.His440Tyr, XP_047283198.1:p.His440Tyr, XP_047283199.1:p.His440Tyr, XP_047283201.1:p.His273Tyr, XP_047283202.1:p.His273Tyr

Select item 14845863475.

rs1484586347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:802259 (GRCh38)
11:802259 (GRCh37)
Canonical SPDI:: NC_000011.10:802258:C:G
Gene:: PIDD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.802259C>G, NC_000011.9:g.802259C>G, NG_023407.1:g.1011G>C, XM_005253005.6:c.1112G>C, XM_005253005.5:c.1112G>C, XM_005253005.4:c.1112G>C, XM_005253005.3:c.1112G>C, XM_005253005.2:c.1112G>C, XM_005253005.1:c.1112G>C, XM_005253006.6:c.1112G>C, XM_005253006.5:c.1112G>C, XM_005253006.4:c.1112G>C, XM_005253006.3:c.1112G>C, XM_005253006.2:c.1112G>C, XM_005253006.1:c.1112G>C, XM_011520210.4:c.1112G>C, XM_011520210.3:c.1112G>C, XM_011520210.2:c.1112G>C, XM_011520210.1:c.1112G>C, XM_011520209.4:c.1193G>C, XM_011520209.3:c.1193G>C, XM_011520209.2:c.1193G>C, XM_011520209.1:c.1193G>C, NM_145886.4:c.1112G>C, NM_145886.3:c.1112G>C, NM_145887.4:c.1112G>C, NM_145887.3:c.1112G>C, NM_018494.3:c.674G>C, XM_011520212.3:c.674G>C, XM_011520212.2:c.674G>C, XM_011520212.1:c.674G>C, XM_011520213.3:c.173G>C, XM_011520213.2:c.173G>C, XM_011520213.1:c.173G>C, NM_018494.2:c.674G>C, XM_047427238.1:c.1193G>C, XM_047427239.1:c.1193G>C, XM_047427240.1:c.1193G>C, XM_047427241.1:c.674G>C, XM_047427242.1:c.674G>C, XM_047427243.1:c.674G>C, XM_047427244.1:c.1193G>C, XM_047427245.1:c.173G>C, XM_047427246.1:c.173G>C, NM_018494.1:c.674G>C, XP_005253062.1:p.Gly371Ala, XP_005253063.1:p.Gly371Ala, XP_011518512.1:p.Gly371Ala, XP_011518511.1:p.Gly398Ala, NP_665893.2:p.Gly371Ala, NP_665894.2:p.Gly371Ala, XP_011518514.1:p.Gly225Ala, XP_011518515.1:p.Gly58Ala, XP_047283194.1:p.Gly398Ala, XP_047283195.1:p.Gly398Ala, XP_047283196.1:p.Gly398Ala, XP_047283197.1:p.Gly225Ala, XP_047283198.1:p.Gly225Ala, XP_047283199.1:p.Gly225Ala, XP_047283200.1:p.Gly398Ala, XP_047283201.1:p.Gly58Ala, XP_047283202.1:p.Gly58Ala

Select item 14837164996.

rs1483716499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:799338 (GRCh38)
11:799338 (GRCh37)
Canonical SPDI:: NC_000011.10:799337:G:A
Gene:: PIDD1 (Varview), SLC25A22 (Varview), PANO1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.799338G>A, NC_000011.9:g.799338G>A, NG_023407.1:g.3932C>T, XM_005253005.6:c.2774C>T, XM_005253005.5:c.2774C>T, XM_005253005.4:c.2774C>T, XM_005253005.3:c.2774C>T, XM_005253005.2:c.2774C>T, XM_005253005.1:c.2774C>T, XM_005253006.6:c.2774C>T, XM_005253006.5:c.2774C>T, XM_005253006.4:c.2774C>T, XM_005253006.3:c.2774C>T, XM_005253006.2:c.2774C>T, XM_005253006.1:c.2774C>T, XM_011520210.4:c.2702C>T, XM_011520210.3:c.2702C>T, XM_011520210.2:c.2702C>T, XM_011520210.1:c.2702C>T, XM_011520209.4:c.2732C>T, XM_011520209.3:c.2732C>T, XM_011520209.2:c.2732C>T, XM_011520209.1:c.2732C>T, NM_145886.4:c.2702C>T, NM_145886.3:c.2702C>T, NM_145887.4:c.2651C>T, NM_145887.3:c.2651C>T, NM_018494.3:c.2231C>T, XM_011520212.3:c.2336C>T, XM_011520212.2:c.2336C>T, XM_011520212.1:c.2336C>T, XM_011520213.3:c.1835C>T, XM_011520213.2:c.1835C>T, XM_011520213.1:c.1835C>T, NM_018494.2:c.2231C>T, XM_047427238.1:c.2855C>T, XM_047427239.1:c.2804C>T, XM_047427240.1:c.2783C>T, XM_047427241.1:c.2285C>T, XM_047427242.1:c.2264C>T, XM_047427243.1:c.2213C>T, XM_047427245.1:c.1835C>T, XM_047427246.1:c.1763C>T, NM_018494.1:c.2231C>T, XP_005253062.1:p.Ala925Val, XP_005253063.1:p.Ala925Val, XP_011518512.1:p.Ala901Val, XP_011518511.1:p.Ala911Val, NP_665893.2:p.Ala901Val, NP_665894.2:p.Ala884Val, XP_011518514.1:p.Ala779Val, XP_011518515.1:p.Ala612Val, XP_047283194.1:p.Ala952Val, XP_047283195.1:p.Ala935Val, XP_047283196.1:p.Ala928Val, XP_047283197.1:p.Ala762Val, XP_047283198.1:p.Ala755Val, XP_047283199.1:p.Ala738Val, XP_047283201.1:p.Ala612Val, XP_047283202.1:p.Ala588Val

Select item 14836364207.

rs1483636420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:802006 (GRCh38)
11:802006 (GRCh37)
Canonical SPDI:: NC_000011.10:802005:A:G
Gene:: PIDD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.802006A>G, NC_000011.9:g.802006A>G, NG_023407.1:g.1264T>C, XM_005253005.6:c.1261T>C, XM_005253005.5:c.1261T>C, XM_005253005.4:c.1261T>C, XM_005253005.3:c.1261T>C, XM_005253005.2:c.1261T>C, XM_005253005.1:c.1261T>C, XM_005253006.6:c.1261T>C, XM_005253006.5:c.1261T>C, XM_005253006.4:c.1261T>C, XM_005253006.3:c.1261T>C, XM_005253006.2:c.1261T>C, XM_005253006.1:c.1261T>C, XM_011520210.4:c.1261T>C, XM_011520210.3:c.1261T>C, XM_011520210.2:c.1261T>C, XM_011520210.1:c.1261T>C, XM_011520209.4:c.1342T>C, XM_011520209.3:c.1342T>C, XM_011520209.2:c.1342T>C, XM_011520209.1:c.1342T>C, NM_145886.4:c.1261T>C, NM_145886.3:c.1261T>C, NM_145887.4:c.1261T>C, NM_145887.3:c.1261T>C, NM_018494.3:c.823T>C, XM_011520212.3:c.823T>C, XM_011520212.2:c.823T>C, XM_011520212.1:c.823T>C, XM_011520213.3:c.322T>C, XM_011520213.2:c.322T>C, XM_011520213.1:c.322T>C, NM_018494.2:c.823T>C, XM_047427238.1:c.1342T>C, XM_047427239.1:c.1342T>C, XM_047427240.1:c.1342T>C, XM_047427241.1:c.823T>C, XM_047427242.1:c.823T>C, XM_047427243.1:c.823T>C, XM_047427244.1:c.1342T>C, XM_047427245.1:c.322T>C, XM_047427246.1:c.322T>C, NM_018494.1:c.823T>C, XP_005253062.1:p.Trp421Arg, XP_005253063.1:p.Trp421Arg, XP_011518512.1:p.Trp421Arg, XP_011518511.1:p.Trp448Arg, NP_665893.2:p.Trp421Arg, NP_665894.2:p.Trp421Arg, XP_011518514.1:p.Trp275Arg, XP_011518515.1:p.Trp108Arg, XP_047283194.1:p.Trp448Arg, XP_047283195.1:p.Trp448Arg, XP_047283196.1:p.Trp448Arg, XP_047283197.1:p.Trp275Arg, XP_047283198.1:p.Trp275Arg, XP_047283199.1:p.Trp275Arg, XP_047283200.1:p.Trp448Arg, XP_047283201.1:p.Trp108Arg, XP_047283202.1:p.Trp108Arg

Select item 14826721818.

rs1482672181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:801473 (GRCh38)
11:801473 (GRCh37)
Canonical SPDI:: NC_000011.10:801472:G:C,NC_000011.10:801472:G:T
Gene:: PIDD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.801473G>C, NC_000011.10:g.801473G>T, NC_000011.9:g.801473G>C, NC_000011.9:g.801473G>T, NG_023407.1:g.1797C>G, NG_023407.1:g.1797C>A, XM_005253005.6:c.1454C>G, XM_005253005.6:c.1454C>A, XM_005253005.5:c.1454C>G, XM_005253005.5:c.1454C>A, XM_005253005.4:c.1454C>G, XM_005253005.4:c.1454C>A, XM_005253005.3:c.1454C>G, XM_005253005.3:c.1454C>A, XM_005253005.2:c.1454C>G, XM_005253005.2:c.1454C>A, XM_005253005.1:c.1454C>G, XM_005253005.1:c.1454C>A, XM_005253006.6:c.1454C>G, XM_005253006.6:c.1454C>A, XM_005253006.5:c.1454C>G, XM_005253006.5:c.1454C>A, XM_005253006.4:c.1454C>G, XM_005253006.4:c.1454C>A, XM_005253006.3:c.1454C>G, XM_005253006.3:c.1454C>A, XM_005253006.2:c.1454C>G, XM_005253006.2:c.1454C>A, XM_005253006.1:c.1454C>G, XM_005253006.1:c.1454C>A, XM_011520210.4:c.1454C>G, XM_011520210.4:c.1454C>A, XM_011520210.3:c.1454C>G, XM_011520210.3:c.1454C>A, XM_011520210.2:c.1454C>G, XM_011520210.2:c.1454C>A, XM_011520210.1:c.1454C>G, XM_011520210.1:c.1454C>A, XM_011520209.4:c.1535C>G, XM_011520209.4:c.1535C>A, XM_011520209.3:c.1535C>G, XM_011520209.3:c.1535C>A, XM_011520209.2:c.1535C>G, XM_011520209.2:c.1535C>A, XM_011520209.1:c.1535C>G, XM_011520209.1:c.1535C>A, NM_145886.4:c.1454C>G, NM_145886.4:c.1454C>A, NM_145886.3:c.1454C>G, NM_145886.3:c.1454C>A, NM_145887.4:c.1454C>G, NM_145887.4:c.1454C>A, NM_145887.3:c.1454C>G, NM_145887.3:c.1454C>A, NM_018494.3:c.1016C>G, NM_018494.3:c.1016C>A, XM_011520212.3:c.1016C>G, XM_011520212.3:c.1016C>A, XM_011520212.2:c.1016C>G, XM_011520212.2:c.1016C>A, XM_011520212.1:c.1016C>G, XM_011520212.1:c.1016C>A, XM_011520213.3:c.515C>G, XM_011520213.3:c.515C>A, XM_011520213.2:c.515C>G, XM_011520213.2:c.515C>A, XM_011520213.1:c.515C>G, XM_011520213.1:c.515C>A, NM_018494.2:c.1016C>G, NM_018494.2:c.1016C>A, XM_047427238.1:c.1535C>G, XM_047427238.1:c.1535C>A, XM_047427239.1:c.1535C>G, XM_047427239.1:c.1535C>A, XM_047427240.1:c.1535C>G, XM_047427240.1:c.1535C>A, XM_047427241.1:c.1016C>G, XM_047427241.1:c.1016C>A, XM_047427242.1:c.1016C>G, XM_047427242.1:c.1016C>A, XM_047427243.1:c.1016C>G, XM_047427243.1:c.1016C>A, XM_047427244.1:c.1535C>G, XM_047427244.1:c.1535C>A, XM_047427245.1:c.515C>G, XM_047427245.1:c.515C>A, XM_047427246.1:c.515C>G, XM_047427246.1:c.515C>A, NM_018494.1:c.1016C>G, NM_018494.1:c.1016C>A, XP_005253062.1:p.Thr485Ser, XP_005253062.1:p.Thr485Asn, XP_005253063.1:p.Thr485Ser, XP_005253063.1:p.Thr485Asn, XP_011518512.1:p.Thr485Ser, XP_011518512.1:p.Thr485Asn, XP_011518511.1:p.Thr512Ser, XP_011518511.1:p.Thr512Asn, NP_665893.2:p.Thr485Ser, NP_665893.2:p.Thr485Asn, NP_665894.2:p.Thr485Ser, NP_665894.2:p.Thr485Asn, XP_011518514.1:p.Thr339Ser, XP_011518514.1:p.Thr339Asn, XP_011518515.1:p.Thr172Ser, XP_011518515.1:p.Thr172Asn, XP_047283194.1:p.Thr512Ser, XP_047283194.1:p.Thr512Asn, XP_047283195.1:p.Thr512Ser, XP_047283195.1:p.Thr512Asn, XP_047283196.1:p.Thr512Ser, XP_047283196.1:p.Thr512Asn, XP_047283197.1:p.Thr339Ser, XP_047283197.1:p.Thr339Asn, XP_047283198.1:p.Thr339Ser, XP_047283198.1:p.Thr339Asn, XP_047283199.1:p.Thr339Ser, XP_047283199.1:p.Thr339Asn, XP_047283200.1:p.Thr512Ser, XP_047283200.1:p.Thr512Asn, XP_047283201.1:p.Thr172Ser, XP_047283201.1:p.Thr172Asn, XP_047283202.1:p.Thr172Ser, XP_047283202.1:p.Thr172Asn

Select item 14824830879.

rs1482483087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:799461 (GRCh38)
11:799461 (GRCh37)
Canonical SPDI:: NC_000011.10:799460:C:T
Gene:: PIDD1 (Varview), SLC25A22 (Varview), PANO1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.799461C>T, NC_000011.9:g.799461C>T, NG_023407.1:g.3809G>A, XM_005253005.6:c.2651G>A, XM_005253005.5:c.2651G>A, XM_005253005.4:c.2651G>A, XM_005253005.3:c.2651G>A, XM_005253005.2:c.2651G>A, XM_005253005.1:c.2651G>A, XM_005253006.6:c.2651G>A, XM_005253006.5:c.2651G>A, XM_005253006.4:c.2651G>A, XM_005253006.3:c.2651G>A, XM_005253006.2:c.2651G>A, XM_005253006.1:c.2651G>A, XM_011520210.4:c.2579G>A, XM_011520210.3:c.2579G>A, XM_011520210.2:c.2579G>A, XM_011520210.1:c.2579G>A, XM_011520209.4:c.2609G>A, XM_011520209.3:c.2609G>A, XM_011520209.2:c.2609G>A, XM_011520209.1:c.2609G>A, NM_145886.4:c.2579G>A, NM_145886.3:c.2579G>A, NM_145887.4:c.2528G>A, NM_145887.3:c.2528G>A, NM_018494.3:c.2108G>A, XM_011520212.3:c.2213G>A, XM_011520212.2:c.2213G>A, XM_011520212.1:c.2213G>A, XM_011520213.3:c.1712G>A, XM_011520213.2:c.1712G>A, XM_011520213.1:c.1712G>A, NM_018494.2:c.2108G>A, XM_047427238.1:c.2732G>A, XM_047427239.1:c.2681G>A, XM_047427240.1:c.2660G>A, XM_047427241.1:c.2162G>A, XM_047427242.1:c.2141G>A, XM_047427243.1:c.2090G>A, XM_047427245.1:c.1712G>A, XM_047427246.1:c.1640G>A, NM_018494.1:c.2108G>A, XP_005253062.1:p.Ser884Asn, XP_005253063.1:p.Ser884Asn, XP_011518512.1:p.Ser860Asn, XP_011518511.1:p.Ser870Asn, NP_665893.2:p.Ser860Asn, NP_665894.2:p.Ser843Asn, XP_011518514.1:p.Ser738Asn, XP_011518515.1:p.Ser571Asn, XP_047283194.1:p.Ser911Asn, XP_047283195.1:p.Ser894Asn, XP_047283196.1:p.Ser887Asn, XP_047283197.1:p.Ser721Asn, XP_047283198.1:p.Ser714Asn, XP_047283199.1:p.Ser697Asn, XP_047283201.1:p.Ser571Asn, XP_047283202.1:p.Ser547Asn

Select item 148062674410.

rs1480626744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:803332 (GRCh38)
11:803332 (GRCh37)
Canonical SPDI:: NC_000011.10:803331:T:C
Gene:: PIDD1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.803332T>C, NC_000011.9:g.803332T>C, XM_005253005.6:c.551A>G, XM_005253005.5:c.551A>G, XM_005253005.4:c.551A>G, XM_005253005.3:c.551A>G, XM_005253005.2:c.551A>G, XM_005253005.1:c.551A>G, XM_005253006.6:c.551A>G, XM_005253006.5:c.551A>G, XM_005253006.4:c.551A>G, XM_005253006.3:c.551A>G, XM_005253006.2:c.551A>G, XM_005253006.1:c.551A>G, XM_011520210.4:c.551A>G, XM_011520210.3:c.551A>G, XM_011520210.2:c.551A>G, XM_011520210.1:c.551A>G, XM_011520209.4:c.632A>G, XM_011520209.3:c.632A>G, XM_011520209.2:c.632A>G, XM_011520209.1:c.632A>G, NM_145886.4:c.551A>G, NM_145886.3:c.551A>G, NM_145887.4:c.551A>G, NM_145887.3:c.551A>G, NM_018494.3:c.113A>G, XM_011520212.3:c.113A>G, XM_011520212.2:c.113A>G, XM_011520212.1:c.113A>G, NM_018494.2:c.113A>G, XM_047427238.1:c.632A>G, XM_047427239.1:c.632A>G, XM_047427240.1:c.632A>G, XM_047427241.1:c.113A>G, XM_047427242.1:c.113A>G, XM_047427243.1:c.113A>G, XM_047427244.1:c.632A>G, NM_018494.1:c.113A>G, XP_005253062.1:p.Gln184Arg, XP_005253063.1:p.Gln184Arg, XP_011518512.1:p.Gln184Arg, XP_011518511.1:p.Gln211Arg, NP_665893.2:p.Gln184Arg, NP_665894.2:p.Gln184Arg, XP_011518514.1:p.Gln38Arg, XP_047283194.1:p.Gln211Arg, XP_047283195.1:p.Gln211Arg, XP_047283196.1:p.Gln211Arg, XP_047283197.1:p.Gln38Arg, XP_047283198.1:p.Gln38Arg, XP_047283199.1:p.Gln38Arg, XP_047283200.1:p.Gln211Arg

Select item 147939589411.

rs1479395894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:802003 (GRCh38)
11:802003 (GRCh37)
Canonical SPDI:: NC_000011.10:802002:C:T
Gene:: PIDD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.802003C>T, NC_000011.9:g.802003C>T, NG_023407.1:g.1267G>A, XM_005253005.6:c.1264G>A, XM_005253005.5:c.1264G>A, XM_005253005.4:c.1264G>A, XM_005253005.3:c.1264G>A, XM_005253005.2:c.1264G>A, XM_005253005.1:c.1264G>A, XM_005253006.6:c.1264G>A, XM_005253006.5:c.1264G>A, XM_005253006.4:c.1264G>A, XM_005253006.3:c.1264G>A, XM_005253006.2:c.1264G>A, XM_005253006.1:c.1264G>A, XM_011520210.4:c.1264G>A, XM_011520210.3:c.1264G>A, XM_011520210.2:c.1264G>A, XM_011520210.1:c.1264G>A, XM_011520209.4:c.1345G>A, XM_011520209.3:c.1345G>A, XM_011520209.2:c.1345G>A, XM_011520209.1:c.1345G>A, NM_145886.4:c.1264G>A, NM_145886.3:c.1264G>A, NM_145887.4:c.1264G>A, NM_145887.3:c.1264G>A, NM_018494.3:c.826G>A, XM_011520212.3:c.826G>A, XM_011520212.2:c.826G>A, XM_011520212.1:c.826G>A, XM_011520213.3:c.325G>A, XM_011520213.2:c.325G>A, XM_011520213.1:c.325G>A, NM_018494.2:c.826G>A, XM_047427238.1:c.1345G>A, XM_047427239.1:c.1345G>A, XM_047427240.1:c.1345G>A, XM_047427241.1:c.826G>A, XM_047427242.1:c.826G>A, XM_047427243.1:c.826G>A, XM_047427244.1:c.1345G>A, XM_047427245.1:c.325G>A, XM_047427246.1:c.325G>A, NM_018494.1:c.826G>A, XP_005253062.1:p.Gly422Ser, XP_005253063.1:p.Gly422Ser, XP_011518512.1:p.Gly422Ser, XP_011518511.1:p.Gly449Ser, NP_665893.2:p.Gly422Ser, NP_665894.2:p.Gly422Ser, XP_011518514.1:p.Gly276Ser, XP_011518515.1:p.Gly109Ser, XP_047283194.1:p.Gly449Ser, XP_047283195.1:p.Gly449Ser, XP_047283196.1:p.Gly449Ser, XP_047283197.1:p.Gly276Ser, XP_047283198.1:p.Gly276Ser, XP_047283199.1:p.Gly276Ser, XP_047283200.1:p.Gly449Ser, XP_047283201.1:p.Gly109Ser, XP_047283202.1:p.Gly109Ser

Select item 147920500212.

rs1479205002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:800915 (GRCh38)
11:800915 (GRCh37)
Canonical SPDI:: NC_000011.10:800914:G:A
Gene:: PIDD1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000011.10:g.800915G>A, NC_000011.9:g.800915G>A, NG_023407.1:g.2355C>T, XM_005253005.6:c.1836C>T, XM_005253005.5:c.1836C>T, XM_005253005.4:c.1836C>T, XM_005253005.3:c.1836C>T, XM_005253005.2:c.1836C>T, XM_005253005.1:c.1836C>T, XM_005253006.6:c.1836C>T, XM_005253006.5:c.1836C>T, XM_005253006.4:c.1836C>T, XM_005253006.3:c.1836C>T, XM_005253006.2:c.1836C>T, XM_005253006.1:c.1836C>T, XM_011520212.3:c.1398C>T, XM_011520212.2:c.1398C>T, XM_011520212.1:c.1398C>T, XM_011520213.3:c.897C>T, XM_011520213.2:c.897C>T, XM_011520213.1:c.897C>T, XM_047427238.1:c.1917C>T, XM_047427239.1:c.1917C>T, XM_047427241.1:c.1398C>T, XM_047427245.1:c.897C>T

Select item 147862224413.

rs1478622244 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:802289 (GRCh38)
11:802289 (GRCh37)
Canonical SPDI:: NC_000011.10:802288:A:T
Gene:: PIDD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.802289A>T, NC_000011.9:g.802289A>T, NG_023407.1:g.981T>A, XM_005253005.6:c.1082T>A, XM_005253005.5:c.1082T>A, XM_005253005.4:c.1082T>A, XM_005253005.3:c.1082T>A, XM_005253005.2:c.1082T>A, XM_005253005.1:c.1082T>A, XM_005253006.6:c.1082T>A, XM_005253006.5:c.1082T>A, XM_005253006.4:c.1082T>A, XM_005253006.3:c.1082T>A, XM_005253006.2:c.1082T>A, XM_005253006.1:c.1082T>A, XM_011520210.4:c.1082T>A, XM_011520210.3:c.1082T>A, XM_011520210.2:c.1082T>A, XM_011520210.1:c.1082T>A, XM_011520209.4:c.1163T>A, XM_011520209.3:c.1163T>A, XM_011520209.2:c.1163T>A, XM_011520209.1:c.1163T>A, NM_145886.4:c.1082T>A, NM_145886.3:c.1082T>A, NM_145887.4:c.1082T>A, NM_145887.3:c.1082T>A, NM_018494.3:c.644T>A, XM_011520212.3:c.644T>A, XM_011520212.2:c.644T>A, XM_011520212.1:c.644T>A, XM_011520213.3:c.143T>A, XM_011520213.2:c.143T>A, XM_011520213.1:c.143T>A, NM_018494.2:c.644T>A, XM_047427238.1:c.1163T>A, XM_047427239.1:c.1163T>A, XM_047427240.1:c.1163T>A, XM_047427241.1:c.644T>A, XM_047427242.1:c.644T>A, XM_047427243.1:c.644T>A, XM_047427244.1:c.1163T>A, XM_047427245.1:c.143T>A, XM_047427246.1:c.143T>A, NM_018494.1:c.644T>A, XP_005253062.1:p.Leu361Gln, XP_005253063.1:p.Leu361Gln, XP_011518512.1:p.Leu361Gln, XP_011518511.1:p.Leu388Gln, NP_665893.2:p.Leu361Gln, NP_665894.2:p.Leu361Gln, XP_011518514.1:p.Leu215Gln, XP_011518515.1:p.Leu48Gln, XP_047283194.1:p.Leu388Gln, XP_047283195.1:p.Leu388Gln, XP_047283196.1:p.Leu388Gln, XP_047283197.1:p.Leu215Gln, XP_047283198.1:p.Leu215Gln, XP_047283199.1:p.Leu215Gln, XP_047283200.1:p.Leu388Gln, XP_047283201.1:p.Leu48Gln, XP_047283202.1:p.Leu48Gln

Select item 147807839414.

rs1478078394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:800780 (GRCh38)
11:800780 (GRCh37)
Canonical SPDI:: NC_000011.10:800779:C:T
Gene:: PIDD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.800780C>T, NC_000011.9:g.800780C>T, NG_023407.1:g.2490G>A, XM_005253005.6:c.1971G>A, XM_005253005.5:c.1971G>A, XM_005253005.4:c.1971G>A, XM_005253005.3:c.1971G>A, XM_005253005.2:c.1971G>A, XM_005253005.1:c.1971G>A, XM_005253006.6:c.1971G>A, XM_005253006.5:c.1971G>A, XM_005253006.4:c.1971G>A, XM_005253006.3:c.1971G>A, XM_005253006.2:c.1971G>A, XM_005253006.1:c.1971G>A, XM_011520210.4:c.1899G>A, XM_011520210.3:c.1899G>A, XM_011520210.2:c.1899G>A, XM_011520210.1:c.1899G>A, XM_011520209.4:c.1980G>A, XM_011520209.3:c.1980G>A, XM_011520209.2:c.1980G>A, XM_011520209.1:c.1980G>A, NM_145886.4:c.1899G>A, NM_145886.3:c.1899G>A, NM_145887.4:c.1899G>A, NM_145887.3:c.1899G>A, NM_018494.3:c.1428G>A, XM_011520212.3:c.1533G>A, XM_011520212.2:c.1533G>A, XM_011520212.1:c.1533G>A, XM_011520213.3:c.1032G>A, XM_011520213.2:c.1032G>A, XM_011520213.1:c.1032G>A, NM_018494.2:c.1428G>A, XM_047427238.1:c.2052G>A, XM_047427239.1:c.2052G>A, XM_047427240.1:c.1980G>A, XM_047427241.1:c.1533G>A, XM_047427242.1:c.1461G>A, XM_047427243.1:c.1461G>A, XM_047427244.1:c.*16G>A, XM_047427245.1:c.1032G>A, XM_047427246.1:c.960G>A, NM_018494.1:c.1428G>A

Select item 147793496715.

rs1477934967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:801075 (GRCh38)
11:801075 (GRCh37)
Canonical SPDI:: NC_000011.10:801074:G:A
Gene:: PIDD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.801075G>A, NC_000011.9:g.801075G>A, NG_023407.1:g.2195C>T, XM_005253005.6:c.1676C>T, XM_005253005.5:c.1676C>T, XM_005253005.4:c.1676C>T, XM_005253005.3:c.1676C>T, XM_005253005.2:c.1676C>T, XM_005253005.1:c.1676C>T, XM_005253006.6:c.1676C>T, XM_005253006.5:c.1676C>T, XM_005253006.4:c.1676C>T, XM_005253006.3:c.1676C>T, XM_005253006.2:c.1676C>T, XM_005253006.1:c.1676C>T, XM_011520210.4:c.1676C>T, XM_011520210.3:c.1676C>T, XM_011520210.2:c.1676C>T, XM_011520210.1:c.1676C>T, XM_011520209.4:c.1757C>T, XM_011520209.3:c.1757C>T, XM_011520209.2:c.1757C>T, XM_011520209.1:c.1757C>T, NM_145886.4:c.1676C>T, NM_145886.3:c.1676C>T, NM_145887.4:c.1676C>T, NM_145887.3:c.1676C>T, NM_018494.3:c.1238C>T, XM_011520212.3:c.1238C>T, XM_011520212.2:c.1238C>T, XM_011520212.1:c.1238C>T, XM_011520213.3:c.737C>T, XM_011520213.2:c.737C>T, XM_011520213.1:c.737C>T, NM_018494.2:c.1238C>T, XM_047427238.1:c.1757C>T, XM_047427239.1:c.1757C>T, XM_047427240.1:c.1757C>T, XM_047427241.1:c.1238C>T, XM_047427242.1:c.1238C>T, XM_047427243.1:c.1238C>T, XM_047427244.1:c.1757C>T, XM_047427245.1:c.737C>T, XM_047427246.1:c.737C>T, NM_018494.1:c.1238C>T, XP_005253062.1:p.Pro559Leu, XP_005253063.1:p.Pro559Leu, XP_011518512.1:p.Pro559Leu, XP_011518511.1:p.Pro586Leu, NP_665893.2:p.Pro559Leu, NP_665894.2:p.Pro559Leu, XP_011518514.1:p.Pro413Leu, XP_011518515.1:p.Pro246Leu, XP_047283194.1:p.Pro586Leu, XP_047283195.1:p.Pro586Leu, XP_047283196.1:p.Pro586Leu, XP_047283197.1:p.Pro413Leu, XP_047283198.1:p.Pro413Leu, XP_047283199.1:p.Pro413Leu, XP_047283200.1:p.Pro586Leu, XP_047283201.1:p.Pro246Leu, XP_047283202.1:p.Pro246Leu

Select item 147742706416.

rs1477427064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:801263 (GRCh38)
11:801263 (GRCh37)
Canonical SPDI:: NC_000011.10:801262:G:C
Gene:: PIDD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.801263G>C, NC_000011.9:g.801263G>C, NG_023407.1:g.2007C>G, XM_005253005.6:c.1585C>G, XM_005253005.5:c.1585C>G, XM_005253005.4:c.1585C>G, XM_005253005.3:c.1585C>G, XM_005253005.2:c.1585C>G, XM_005253005.1:c.1585C>G, XM_005253006.6:c.1585C>G, XM_005253006.5:c.1585C>G, XM_005253006.4:c.1585C>G, XM_005253006.3:c.1585C>G, XM_005253006.2:c.1585C>G, XM_005253006.1:c.1585C>G, XM_011520210.4:c.1585C>G, XM_011520210.3:c.1585C>G, XM_011520210.2:c.1585C>G, XM_011520210.1:c.1585C>G, XM_011520209.4:c.1666C>G, XM_011520209.3:c.1666C>G, XM_011520209.2:c.1666C>G, XM_011520209.1:c.1666C>G, NM_145886.4:c.1585C>G, NM_145886.3:c.1585C>G, NM_145887.4:c.1585C>G, NM_145887.3:c.1585C>G, NM_018494.3:c.1147C>G, XM_011520212.3:c.1147C>G, XM_011520212.2:c.1147C>G, XM_011520212.1:c.1147C>G, XM_011520213.3:c.646C>G, XM_011520213.2:c.646C>G, XM_011520213.1:c.646C>G, NM_018494.2:c.1147C>G, XM_047427238.1:c.1666C>G, XM_047427239.1:c.1666C>G, XM_047427240.1:c.1666C>G, XM_047427241.1:c.1147C>G, XM_047427242.1:c.1147C>G, XM_047427243.1:c.1147C>G, XM_047427244.1:c.1666C>G, XM_047427245.1:c.646C>G, XM_047427246.1:c.646C>G, NM_018494.1:c.1147C>G, XP_005253062.1:p.Leu529Val, XP_005253063.1:p.Leu529Val, XP_011518512.1:p.Leu529Val, XP_011518511.1:p.Leu556Val, NP_665893.2:p.Leu529Val, NP_665894.2:p.Leu529Val, XP_011518514.1:p.Leu383Val, XP_011518515.1:p.Leu216Val, XP_047283194.1:p.Leu556Val, XP_047283195.1:p.Leu556Val, XP_047283196.1:p.Leu556Val, XP_047283197.1:p.Leu383Val, XP_047283198.1:p.Leu383Val, XP_047283199.1:p.Leu383Val, XP_047283200.1:p.Leu556Val, XP_047283201.1:p.Leu216Val, XP_047283202.1:p.Leu216Val

Select item 147726450017.

rs1477264500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:802690 (GRCh38)
11:802690 (GRCh37)
Canonical SPDI:: NC_000011.10:802689:C:T
Gene:: PIDD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.802690C>T, NC_000011.9:g.802690C>T, NG_023407.1:g.580G>A, XM_005253005.6:c.911G>A, XM_005253005.5:c.911G>A, XM_005253005.4:c.911G>A, XM_005253005.3:c.911G>A, XM_005253005.2:c.911G>A, XM_005253005.1:c.911G>A, XM_005253006.6:c.911G>A, XM_005253006.5:c.911G>A, XM_005253006.4:c.911G>A, XM_005253006.3:c.911G>A, XM_005253006.2:c.911G>A, XM_005253006.1:c.911G>A, XM_011520210.4:c.911G>A, XM_011520210.3:c.911G>A, XM_011520210.2:c.911G>A, XM_011520210.1:c.911G>A, XM_011520209.4:c.992G>A, XM_011520209.3:c.992G>A, XM_011520209.2:c.992G>A, XM_011520209.1:c.992G>A, NM_145886.4:c.911G>A, NM_145886.3:c.911G>A, NM_145887.4:c.911G>A, NM_145887.3:c.911G>A, NM_018494.3:c.473G>A, XM_011520212.3:c.473G>A, XM_011520212.2:c.473G>A, XM_011520212.1:c.473G>A, XM_011520213.3:c.-29G>A, XM_011520213.2:c.-29G>A, XM_011520213.1:c.-29G>A, NM_018494.2:c.473G>A, XM_047427238.1:c.992G>A, XM_047427239.1:c.992G>A, XM_047427240.1:c.992G>A, XM_047427241.1:c.473G>A, XM_047427242.1:c.473G>A, XM_047427243.1:c.473G>A, XM_047427244.1:c.992G>A, XM_047427245.1:c.-29G>A, XM_047427246.1:c.-29G>A, NM_018494.1:c.473G>A, XP_005253062.1:p.Ser304Asn, XP_005253063.1:p.Ser304Asn, XP_011518512.1:p.Ser304Asn, XP_011518511.1:p.Ser331Asn, NP_665893.2:p.Ser304Asn, NP_665894.2:p.Ser304Asn, XP_011518514.1:p.Ser158Asn, XP_047283194.1:p.Ser331Asn, XP_047283195.1:p.Ser331Asn, XP_047283196.1:p.Ser331Asn, XP_047283197.1:p.Ser158Asn, XP_047283198.1:p.Ser158Asn, XP_047283199.1:p.Ser158Asn, XP_047283200.1:p.Ser331Asn

Select item 147724900818.

rs1477249008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:802859 (GRCh38)
11:802859 (GRCh37)
Canonical SPDI:: NC_000011.10:802858:G:C
Gene:: PIDD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.802859G>C, NC_000011.9:g.802859G>C, NG_023407.1:g.411C>G, XM_005253005.6:c.742C>G, XM_005253005.5:c.742C>G, XM_005253005.4:c.742C>G, XM_005253005.3:c.742C>G, XM_005253005.2:c.742C>G, XM_005253005.1:c.742C>G, XM_005253006.6:c.742C>G, XM_005253006.5:c.742C>G, XM_005253006.4:c.742C>G, XM_005253006.3:c.742C>G, XM_005253006.2:c.742C>G, XM_005253006.1:c.742C>G, XM_011520210.4:c.742C>G, XM_011520210.3:c.742C>G, XM_011520210.2:c.742C>G, XM_011520210.1:c.742C>G, XM_011520209.4:c.823C>G, XM_011520209.3:c.823C>G, XM_011520209.2:c.823C>G, XM_011520209.1:c.823C>G, NM_145886.4:c.742C>G, NM_145886.3:c.742C>G, NM_145887.4:c.742C>G, NM_145887.3:c.742C>G, NM_018494.3:c.304C>G, XM_011520212.3:c.304C>G, XM_011520212.2:c.304C>G, XM_011520212.1:c.304C>G, NM_018494.2:c.304C>G, XM_047427238.1:c.823C>G, XM_047427239.1:c.823C>G, XM_047427240.1:c.823C>G, XM_047427241.1:c.304C>G, XM_047427242.1:c.304C>G, XM_047427243.1:c.304C>G, XM_047427244.1:c.823C>G, XM_047427245.1:c.-198C>G, NM_018494.1:c.304C>G, XP_005253062.1:p.His248Asp, XP_005253063.1:p.His248Asp, XP_011518512.1:p.His248Asp, XP_011518511.1:p.His275Asp, NP_665893.2:p.His248Asp, NP_665894.2:p.His248Asp, XP_011518514.1:p.His102Asp, XP_047283194.1:p.His275Asp, XP_047283195.1:p.His275Asp, XP_047283196.1:p.His275Asp, XP_047283197.1:p.His102Asp, XP_047283198.1:p.His102Asp, XP_047283199.1:p.His102Asp, XP_047283200.1:p.His275Asp

Select item 147711596919.

rs1477115969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:799523 (GRCh38)
11:799523 (GRCh37)
Canonical SPDI:: NC_000011.10:799522:C:T
Gene:: PIDD1 (Varview), SLC25A22 (Varview), PANO1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,stop_gained,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.799523C>T, NC_000011.9:g.799523C>T, NG_023407.1:g.3747G>A, XM_005253005.6:c.2589G>A, XM_005253005.5:c.2589G>A, XM_005253005.4:c.2589G>A, XM_005253005.3:c.2589G>A, XM_005253005.2:c.2589G>A, XM_005253005.1:c.2589G>A, XM_005253006.6:c.2589G>A, XM_005253006.5:c.2589G>A, XM_005253006.4:c.2589G>A, XM_005253006.3:c.2589G>A, XM_005253006.2:c.2589G>A, XM_005253006.1:c.2589G>A, XM_011520210.4:c.2517G>A, XM_011520210.3:c.2517G>A, XM_011520210.2:c.2517G>A, XM_011520210.1:c.2517G>A, XM_011520209.4:c.2547G>A, XM_011520209.3:c.2547G>A, XM_011520209.2:c.2547G>A, XM_011520209.1:c.2547G>A, NM_145886.4:c.2517G>A, NM_145886.3:c.2517G>A, NM_145887.4:c.2466G>A, NM_145887.3:c.2466G>A, NM_018494.3:c.2046G>A, XM_011520212.3:c.2151G>A, XM_011520212.2:c.2151G>A, XM_011520212.1:c.2151G>A, XM_011520213.3:c.1650G>A, XM_011520213.2:c.1650G>A, XM_011520213.1:c.1650G>A, NM_018494.2:c.2046G>A, XM_047427238.1:c.2670G>A, XM_047427239.1:c.2619G>A, XM_047427240.1:c.2598G>A, XM_047427241.1:c.2100G>A, XM_047427242.1:c.2079G>A, XM_047427243.1:c.2028G>A, XM_047427245.1:c.1650G>A, XM_047427246.1:c.1578G>A, NM_018494.1:c.2046G>A, XP_005253062.1:p.Trp863Ter, XP_005253063.1:p.Trp863Ter, XP_011518512.1:p.Trp839Ter, XP_011518511.1:p.Trp849Ter, NP_665893.2:p.Trp839Ter, NP_665894.2:p.Trp822Ter, XP_011518514.1:p.Trp717Ter, XP_011518515.1:p.Trp550Ter, XP_047283194.1:p.Trp890Ter, XP_047283195.1:p.Trp873Ter, XP_047283196.1:p.Trp866Ter, XP_047283197.1:p.Trp700Ter, XP_047283198.1:p.Trp693Ter, XP_047283199.1:p.Trp676Ter, XP_047283201.1:p.Trp550Ter, XP_047283202.1:p.Trp526Ter

Select item 147620145120.

rs1476201451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:799372 (GRCh38)
11:799372 (GRCh37)
Canonical SPDI:: NC_000011.10:799371:C:T
Gene:: PIDD1 (Varview), SLC25A22 (Varview), PANO1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.799372C>T, NC_000011.9:g.799372C>T, NG_023407.1:g.3898G>A, XM_005253005.6:c.2740G>A, XM_005253005.5:c.2740G>A, XM_005253005.4:c.2740G>A, XM_005253005.3:c.2740G>A, XM_005253005.2:c.2740G>A, XM_005253005.1:c.2740G>A, XM_005253006.6:c.2740G>A, XM_005253006.5:c.2740G>A, XM_005253006.4:c.2740G>A, XM_005253006.3:c.2740G>A, XM_005253006.2:c.2740G>A, XM_005253006.1:c.2740G>A, XM_011520210.4:c.2668G>A, XM_011520210.3:c.2668G>A, XM_011520210.2:c.2668G>A, XM_011520210.1:c.2668G>A, XM_011520209.4:c.2698G>A, XM_011520209.3:c.2698G>A, XM_011520209.2:c.2698G>A, XM_011520209.1:c.2698G>A, NM_145886.4:c.2668G>A, NM_145886.3:c.2668G>A, NM_145887.4:c.2617G>A, NM_145887.3:c.2617G>A, NM_018494.3:c.2197G>A, XM_011520212.3:c.2302G>A, XM_011520212.2:c.2302G>A, XM_011520212.1:c.2302G>A, XM_011520213.3:c.1801G>A, XM_011520213.2:c.1801G>A, XM_011520213.1:c.1801G>A, NM_018494.2:c.2197G>A, XM_047427238.1:c.2821G>A, XM_047427239.1:c.2770G>A, XM_047427240.1:c.2749G>A, XM_047427241.1:c.2251G>A, XM_047427242.1:c.2230G>A, XM_047427243.1:c.2179G>A, XM_047427245.1:c.1801G>A, XM_047427246.1:c.1729G>A, NM_018494.1:c.2197G>A, XP_005253062.1:p.Ala914Thr, XP_005253063.1:p.Ala914Thr, XP_011518512.1:p.Ala890Thr, XP_011518511.1:p.Ala900Thr, NP_665893.2:p.Ala890Thr, NP_665894.2:p.Ala873Thr, XP_011518514.1:p.Ala768Thr, XP_011518515.1:p.Ala601Thr, XP_047283194.1:p.Ala941Thr, XP_047283195.1:p.Ala924Thr, XP_047283196.1:p.Ala917Thr, XP_047283197.1:p.Ala751Thr, XP_047283198.1:p.Ala744Thr, XP_047283199.1:p.Ala727Thr, XP_047283201.1:p.Ala601Thr, XP_047283202.1:p.Ala577Thr

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