SNP Links for Protein (Select 14249340) - SNP

Links from Protein

Items: 1 to 20 of 705

<< First< Prev

Page of 36

Next >Last >>

Select item 14906062901.

rs1490606290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218632207 (GRCh38)
2:219496930 (GRCh37)
Canonical SPDI:: NC_000002.12:218632206:G:A
Gene:: PLCD4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.218632207G>A, NC_000002.11:g.219496930G>A, NM_032726.4:c.1344G>A, NM_032726.3:c.1344G>A, XM_005246913.3:c.1344G>A, XM_005246913.2:c.1344G>A, XM_005246913.1:c.1344G>A, XM_011512012.2:c.1344G>A, XM_011512012.1:c.1344G>A, XM_024453182.2:c.1344G>A, XM_024453182.1:c.1344G>A, XM_047446074.1:c.1344G>A, XM_047446072.1:c.1344G>A, XM_047446076.1:c.1344G>A, XM_047446077.1:c.1191G>A, XM_047446075.1:c.1344G>A, XM_047446078.1:c.1344G>A

Select item 14899677522.

rs1489967752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:218628056 (GRCh38)
2:219492779 (GRCh37)
Canonical SPDI:: NC_000002.12:218628055:A:C,NC_000002.12:218628055:A:G
Gene:: PLCD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218628056A>C, NC_000002.12:g.218628056A>G, NC_000002.11:g.219492779A>C, NC_000002.11:g.219492779A>G, NM_032726.4:c.800A>C, NM_032726.4:c.800A>G, NM_032726.3:c.800A>C, NM_032726.3:c.800A>G, XM_005246913.3:c.800A>C, XM_005246913.3:c.800A>G, XM_005246913.2:c.800A>C, XM_005246913.2:c.800A>G, XM_005246913.1:c.800A>C, XM_005246913.1:c.800A>G, XM_011512012.2:c.800A>C, XM_011512012.2:c.800A>G, XM_011512012.1:c.800A>C, XM_011512012.1:c.800A>G, XM_024453182.2:c.800A>C, XM_024453182.2:c.800A>G, XM_024453182.1:c.800A>C, XM_024453182.1:c.800A>G, XM_047446074.1:c.800A>C, XM_047446074.1:c.800A>G, XM_047446072.1:c.800A>C, XM_047446072.1:c.800A>G, XM_047446076.1:c.800A>C, XM_047446076.1:c.800A>G, XM_047446077.1:c.800A>C, XM_047446077.1:c.800A>G, XM_047446075.1:c.800A>C, XM_047446075.1:c.800A>G, XM_047446078.1:c.800A>C, XM_047446078.1:c.800A>G, NP_116115.1:p.Asp267Ala, NP_116115.1:p.Asp267Gly, XP_005246970.1:p.Asp267Ala, XP_005246970.1:p.Asp267Gly, XP_011510314.1:p.Asp267Ala, XP_011510314.1:p.Asp267Gly, XP_024308950.1:p.Asp267Ala, XP_024308950.1:p.Asp267Gly, XP_047302030.1:p.Asp267Ala, XP_047302030.1:p.Asp267Gly, XP_047302028.1:p.Asp267Ala, XP_047302028.1:p.Asp267Gly, XP_047302032.1:p.Asp267Ala, XP_047302032.1:p.Asp267Gly, XP_047302033.1:p.Asp267Ala, XP_047302033.1:p.Asp267Gly, XP_047302031.1:p.Asp267Ala, XP_047302031.1:p.Asp267Gly, XP_047302034.1:p.Asp267Ala, XP_047302034.1:p.Asp267Gly

Select item 14899178853.

rs1489917885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218630785 (GRCh38)
2:219495508 (GRCh37)
Canonical SPDI:: NC_000002.12:218630784:C:T
Gene:: PLCD4 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218630785C>T, NC_000002.11:g.219495508C>T, NM_032726.4:c.1255C>T, NM_032726.3:c.1255C>T, XM_005246913.3:c.1255C>T, XM_005246913.2:c.1255C>T, XM_005246913.1:c.1255C>T, XM_011512012.2:c.1255C>T, XM_011512012.1:c.1255C>T, XM_024453182.2:c.1255C>T, XM_024453182.1:c.1255C>T, XM_047446074.1:c.1255C>T, XM_047446072.1:c.1255C>T, XM_047446076.1:c.1255C>T, XM_047446075.1:c.1255C>T, XM_047446078.1:c.1255C>T, NP_116115.1:p.Gln419Ter, XP_005246970.1:p.Gln419Ter, XP_011510314.1:p.Gln419Ter, XP_024308950.1:p.Gln419Ter, XP_047302030.1:p.Gln419Ter, XP_047302028.1:p.Gln419Ter, XP_047302032.1:p.Gln419Ter, XP_047302031.1:p.Gln419Ter, XP_047302034.1:p.Gln419Ter

Select item 14891471624.

rs1489147162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:218634553 (GRCh38)
2:219499276 (GRCh37)
Canonical SPDI:: NC_000002.12:218634552:T:G
Gene:: ZNF142 (Varview), PLCD4 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218634553T>G, NC_000002.11:g.219499276T>G, NM_032726.4:c.1819T>G, NM_032726.3:c.1819T>G, NM_001366290.3:c.*3786A>C, XM_011511786.3:c.*3786A>C, XM_011511788.3:c.*3786A>C, XM_005246913.3:c.1819T>G, XM_005246913.2:c.1819T>G, XM_005246913.1:c.1819T>G, XM_011512012.2:c.1915T>G, XM_011512012.1:c.1915T>G, XM_024453182.2:c.1915T>G, XM_024453182.1:c.1915T>G, XM_047445777.1:c.*3786A>C, NM_001379659.1:c.*3786A>C, NM_001379661.1:c.*3786A>C, NM_001379660.1:c.*3786A>C, XM_047445779.1:c.*3786A>C, NM_001379662.1:c.*3786A>C, XM_047445778.1:c.*3786A>C, XM_047445780.1:c.*3786A>C, XM_047445781.1:c.*3786A>C, XM_047445782.1:c.*3786A>C, XM_047445783.1:c.*3786A>C, XM_047445784.1:c.*3786A>C, XM_047446074.1:c.2038T>G, XM_047446072.1:c.2038T>G, XM_047446076.1:c.2038T>G, XM_047446077.1:c.1885T>G, XM_047446075.1:c.2038T>G, NP_116115.1:p.Phe607Val, XP_005246970.1:p.Phe607Val, XP_011510314.1:p.Phe639Val, XP_024308950.1:p.Phe639Val, XP_047302030.1:p.Phe680Val, XP_047302028.1:p.Phe680Val, XP_047302032.1:p.Phe680Val, XP_047302033.1:p.Phe629Val, XP_047302031.1:p.Phe680Val

Select item 14880973125.

rs1488097312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:218635827 (GRCh38)
2:219500550 (GRCh37)
Canonical SPDI:: NC_000002.12:218635826:A:T
Gene:: ZNF142 (Varview), PLCD4 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218635827A>T, NC_000002.11:g.219500550A>T, NM_032726.4:c.1928A>T, NM_032726.3:c.1928A>T, NM_001366290.3:c.*2512T>A, XM_011511786.3:c.*2512T>A, XM_011511788.3:c.*2512T>A, XM_005246913.3:c.1928A>T, XM_005246913.2:c.1928A>T, XM_005246913.1:c.1928A>T, XM_011512012.2:c.2024A>T, XM_011512012.1:c.2024A>T, XM_024453182.2:c.2024A>T, XM_024453182.1:c.2024A>T, XM_047445777.1:c.*2512T>A, NM_001379659.1:c.*2512T>A, NM_001379661.1:c.*2512T>A, NM_001379660.1:c.*2512T>A, XM_047445779.1:c.*2512T>A, NM_001379662.1:c.*2512T>A, XM_047445778.1:c.*2512T>A, XM_047445780.1:c.*2512T>A, XM_047445781.1:c.*2512T>A, XM_047445782.1:c.*2512T>A, XM_047445783.1:c.*2512T>A, XM_047445784.1:c.*2512T>A, XM_047446074.1:c.2147A>T, XM_047446072.1:c.2147A>T, XM_047446076.1:c.2147A>T, XM_047446077.1:c.1994A>T, XM_047446075.1:c.2147A>T, NP_116115.1:p.Asp643Val, XP_005246970.1:p.Asp643Val, XP_011510314.1:p.Asp675Val, XP_024308950.1:p.Asp675Val, XP_047302030.1:p.Asp716Val, XP_047302028.1:p.Asp716Val, XP_047302032.1:p.Asp716Val, XP_047302033.1:p.Asp665Val, XP_047302031.1:p.Asp716Val

Select item 14859495146.

rs1485949514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:218618782 (GRCh38)
2:219483505 (GRCh37)
Canonical SPDI:: NC_000002.12:218618781:A:G
Gene:: PLCD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218618782A>G, NC_000002.11:g.219483505A>G, NM_032726.4:c.385A>G, NM_032726.3:c.385A>G, XM_005246913.3:c.385A>G, XM_005246913.2:c.385A>G, XM_005246913.1:c.385A>G, XM_011512012.2:c.385A>G, XM_011512012.1:c.385A>G, XM_024453182.2:c.385A>G, XM_024453182.1:c.385A>G, XM_047446074.1:c.385A>G, XM_047446072.1:c.385A>G, XM_047446076.1:c.385A>G, XM_047446077.1:c.385A>G, XM_047446075.1:c.385A>G, XM_047446078.1:c.385A>G, NP_116115.1:p.Met129Val, XP_005246970.1:p.Met129Val, XP_011510314.1:p.Met129Val, XP_024308950.1:p.Met129Val, XP_047302030.1:p.Met129Val, XP_047302028.1:p.Met129Val, XP_047302032.1:p.Met129Val, XP_047302033.1:p.Met129Val, XP_047302031.1:p.Met129Val, XP_047302034.1:p.Met129Val

Select item 14853063177.

rs1485306317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:218616026 (GRCh38)
2:219480749 (GRCh37)
Canonical SPDI:: NC_000002.12:218616025:C:G
Gene:: PLCD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218616026C>G, NC_000002.11:g.219480749C>G, NM_032726.4:c.145C>G, NM_032726.3:c.145C>G, XM_005246913.3:c.145C>G, XM_005246913.2:c.145C>G, XM_005246913.1:c.145C>G, XM_011512012.2:c.145C>G, XM_011512012.1:c.145C>G, XM_024453182.2:c.145C>G, XM_024453182.1:c.145C>G, XM_047446074.1:c.145C>G, XM_047446072.1:c.145C>G, XM_047446076.1:c.145C>G, XM_047446077.1:c.145C>G, XM_047446075.1:c.145C>G, XM_047446078.1:c.145C>G, NP_116115.1:p.His49Asp, XP_005246970.1:p.His49Asp, XP_011510314.1:p.His49Asp, XP_024308950.1:p.His49Asp, XP_047302030.1:p.His49Asp, XP_047302028.1:p.His49Asp, XP_047302032.1:p.His49Asp, XP_047302033.1:p.His49Asp, XP_047302031.1:p.His49Asp, XP_047302034.1:p.His49Asp

Select item 14841152838.

rs1484115283 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:218635821 (GRCh38)
2:219500544 (GRCh37)
Canonical SPDI:: NC_000002.12:218635820:A:G
Gene:: ZNF142 (Varview), PLCD4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218635821A>G, NC_000002.11:g.219500544A>G, NM_032726.4:c.1922A>G, NM_032726.3:c.1922A>G, NM_001366290.3:c.*2518T>C, XM_011511786.3:c.*2518T>C, XM_011511788.3:c.*2518T>C, XM_005246913.3:c.1922A>G, XM_005246913.2:c.1922A>G, XM_005246913.1:c.1922A>G, XM_011512012.2:c.2018A>G, XM_011512012.1:c.2018A>G, XM_024453182.2:c.2018A>G, XM_024453182.1:c.2018A>G, XM_047445777.1:c.*2518T>C, NM_001379659.1:c.*2518T>C, NM_001379661.1:c.*2518T>C, NM_001379660.1:c.*2518T>C, XM_047445779.1:c.*2518T>C, NM_001379662.1:c.*2518T>C, XM_047445778.1:c.*2518T>C, XM_047445780.1:c.*2518T>C, XM_047445781.1:c.*2518T>C, XM_047445782.1:c.*2518T>C, XM_047445783.1:c.*2518T>C, XM_047445784.1:c.*2518T>C, XM_047446074.1:c.2141A>G, XM_047446072.1:c.2141A>G, XM_047446076.1:c.2141A>G, XM_047446077.1:c.1988A>G, XM_047446075.1:c.2141A>G, NP_116115.1:p.Lys641Arg, XP_005246970.1:p.Lys641Arg, XP_011510314.1:p.Lys673Arg, XP_024308950.1:p.Lys673Arg, XP_047302030.1:p.Lys714Arg, XP_047302028.1:p.Lys714Arg, XP_047302032.1:p.Lys714Arg, XP_047302033.1:p.Lys663Arg, XP_047302031.1:p.Lys714Arg

Select item 14837589759.

rs1483758975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218633664 (GRCh38)
2:219498387 (GRCh37)
Canonical SPDI:: NC_000002.12:218633663:C:T
Gene:: ZNF142 (Varview), PLCD4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218633664C>T, NC_000002.11:g.219498387C>T, NM_032726.4:c.1509C>T, NM_032726.3:c.1509C>T, NM_001366290.3:c.*4675G>A, XM_011511786.3:c.*4675G>A, XM_011511788.3:c.*4675G>A, XM_005246913.3:c.1509C>T, XM_005246913.2:c.1509C>T, XM_005246913.1:c.1509C>T, XM_011512012.2:c.1605C>T, XM_011512012.1:c.1605C>T, XM_024453182.2:c.1605C>T, XM_024453182.1:c.1605C>T, XM_047445777.1:c.*4675G>A, NM_001379659.1:c.*4675G>A, NM_001379661.1:c.*4675G>A, NM_001379660.1:c.*4675G>A, XM_047445779.1:c.*4675G>A, NM_001379662.1:c.*4675G>A, XM_047445778.1:c.*4675G>A, XM_047445780.1:c.*4675G>A, XM_047445781.1:c.*4675G>A, XM_047445782.1:c.*4675G>A, XM_047445783.1:c.*4675G>A, XM_047445784.1:c.*4675G>A, XM_047446074.1:c.1728C>T, XM_047446072.1:c.1728C>T, XM_047446076.1:c.1728C>T, XM_047446077.1:c.1575C>T, XM_047446075.1:c.1728C>T

Select item 148355677910.

rs1483556779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218629556 (GRCh38)
2:219494279 (GRCh37)
Canonical SPDI:: NC_000002.12:218629555:G:A
Gene:: PLCD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.218629556G>A, NC_000002.11:g.219494279G>A, NM_032726.4:c.1012G>A, NM_032726.3:c.1012G>A, XM_005246913.3:c.1012G>A, XM_005246913.2:c.1012G>A, XM_005246913.1:c.1012G>A, XM_011512012.2:c.1012G>A, XM_011512012.1:c.1012G>A, XM_024453182.2:c.1012G>A, XM_024453182.1:c.1012G>A, XM_047446074.1:c.1012G>A, XM_047446072.1:c.1012G>A, XM_047446076.1:c.1012G>A, XM_047446077.1:c.1012G>A, XM_047446075.1:c.1012G>A, XM_047446078.1:c.1012G>A, NP_116115.1:p.Val338Ile, XP_005246970.1:p.Val338Ile, XP_011510314.1:p.Val338Ile, XP_024308950.1:p.Val338Ile, XP_047302030.1:p.Val338Ile, XP_047302028.1:p.Val338Ile, XP_047302032.1:p.Val338Ile, XP_047302033.1:p.Val338Ile, XP_047302031.1:p.Val338Ile, XP_047302034.1:p.Val338Ile

Select item 148247894411.

rs1482478944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:218636392 (GRCh38)
2:219501115 (GRCh37)
Canonical SPDI:: NC_000002.12:218636391:G:C,NC_000002.12:218636391:G:T
Gene:: ZNF142 (Varview), PLCD4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218636392G>C, NC_000002.12:g.218636392G>T, NC_000002.11:g.219501115G>C, NC_000002.11:g.219501115G>T, NG_033099.1:g.28149C>G, NG_033099.1:g.28149C>A, NM_001105537.4:c.*1947C>G, NM_001105537.4:c.*1947C>A, NM_001366290.3:c.*1947C>G, NM_001366290.3:c.*1947C>A, NM_001366290.2:c.*1947C>G, NM_001366290.2:c.*1947C>A, NM_001366291.2:c.*1947C>G, NM_001366291.2:c.*1947C>A, NM_001366287.2:c.*1947C>G, NM_001366287.2:c.*1947C>A, NM_001366288.2:c.*1947C>G, NM_001366288.2:c.*1947C>A, NM_001366289.2:c.*1947C>G, NM_001366289.2:c.*1947C>A, NM_001379659.1:c.*1947C>G, NM_001379659.1:c.*1947C>A, NM_001379661.1:c.*1947C>G, NM_001379661.1:c.*1947C>A, NM_001379660.1:c.*1947C>G, NM_001379660.1:c.*1947C>A, NM_001379662.1:c.*1947C>G, NM_001379662.1:c.*1947C>A, NM_032726.4:c.2182G>C, NM_032726.4:c.2182G>T, NM_032726.3:c.2182G>C, NM_032726.3:c.2182G>T, XM_011511786.3:c.*1947C>G, XM_011511786.3:c.*1947C>A, XM_011511788.3:c.*1947C>G, XM_011511788.3:c.*1947C>A, XM_005246913.3:c.2182G>C, XM_005246913.3:c.2182G>T, XM_005246913.2:c.2182G>C, XM_005246913.2:c.2182G>T, XM_005246913.1:c.2182G>C, XM_005246913.1:c.2182G>T, XM_011512012.2:c.2278G>C, XM_011512012.2:c.2278G>T, XM_011512012.1:c.2278G>C, XM_011512012.1:c.2278G>T, XM_024453182.2:c.2278G>C, XM_024453182.2:c.2278G>T, XM_024453182.1:c.2278G>C, XM_024453182.1:c.2278G>T, XM_047445777.1:c.*1947C>G, XM_047445777.1:c.*1947C>A, XM_047445779.1:c.*1947C>G, XM_047445779.1:c.*1947C>A, XM_047445778.1:c.*1947C>G, XM_047445778.1:c.*1947C>A, XM_047445780.1:c.*1947C>G, XM_047445780.1:c.*1947C>A, XM_047445781.1:c.*1947C>G, XM_047445781.1:c.*1947C>A, XM_047445782.1:c.*1947C>G, XM_047445782.1:c.*1947C>A, XM_047445783.1:c.*1947C>G, XM_047445783.1:c.*1947C>A, XM_047445784.1:c.*1947C>G, XM_047445784.1:c.*1947C>A, XM_047446074.1:c.2401G>C, XM_047446074.1:c.2401G>T, XM_047446072.1:c.2401G>C, XM_047446072.1:c.2401G>T, XM_047446076.1:c.2401G>C, XM_047446076.1:c.2401G>T, XM_047446077.1:c.2248G>C, XM_047446077.1:c.2248G>T, XM_047446075.1:c.2401G>C, XM_047446075.1:c.2401G>T, NP_116115.1:p.Gly728Arg, NP_116115.1:p.Gly728Cys, XP_005246970.1:p.Gly728Arg, XP_005246970.1:p.Gly728Cys, XP_011510314.1:p.Gly760Arg, XP_011510314.1:p.Gly760Cys, XP_024308950.1:p.Gly760Arg, XP_024308950.1:p.Gly760Cys, XP_047302030.1:p.Gly801Arg, XP_047302030.1:p.Gly801Cys, XP_047302028.1:p.Gly801Arg, XP_047302028.1:p.Gly801Cys, XP_047302032.1:p.Gly801Arg, XP_047302032.1:p.Gly801Cys, XP_047302033.1:p.Gly750Arg, XP_047302033.1:p.Gly750Cys, XP_047302031.1:p.Gly801Arg, XP_047302031.1:p.Gly801Cys

Select item 147922066612.

rs1479220666 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218636546 (GRCh38)
2:219501269 (GRCh37)
Canonical SPDI:: NC_000002.12:218636545:T:C
Gene:: ZNF142 (Varview), PLCD4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_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_000002.12:g.218636546T>C, NC_000002.11:g.219501269T>C, NG_033099.1:g.27995A>G, NM_001105537.4:c.*1793A>G, NM_001366290.3:c.*1793A>G, NM_001366290.2:c.*1793A>G, NM_001366291.2:c.*1793A>G, NM_001366287.2:c.*1793A>G, NM_001366288.2:c.*1793A>G, NM_001366289.2:c.*1793A>G, NM_001379659.1:c.*1793A>G, NM_001379661.1:c.*1793A>G, NM_001379660.1:c.*1793A>G, NM_001379662.1:c.*1793A>G, NM_032726.4:c.2258T>C, NM_032726.3:c.2258T>C, XM_011511786.3:c.*1793A>G, XM_011511788.3:c.*1793A>G, XM_005246913.3:c.2336T>C, XM_005246913.2:c.2336T>C, XM_005246913.1:c.2336T>C, XM_011512012.2:c.2432T>C, XM_011512012.1:c.2432T>C, XM_024453182.2:c.2354T>C, XM_024453182.1:c.2354T>C, XM_047445777.1:c.*1793A>G, XM_047445779.1:c.*1793A>G, XM_047445778.1:c.*1793A>G, XM_047445780.1:c.*1793A>G, XM_047445781.1:c.*1793A>G, XM_047445782.1:c.*1793A>G, XM_047445783.1:c.*1793A>G, XM_047445784.1:c.*1793A>G, XM_047446074.1:c.2555T>C, XM_047446072.1:c.2555T>C, XM_047446076.1:c.2477T>C, XM_047446077.1:c.2402T>C, XM_047446075.1:c.2555T>C, NP_116115.1:p.Ile753Thr, XP_005246970.1:p.Ile779Thr, XP_011510314.1:p.Ile811Thr, XP_024308950.1:p.Ile785Thr, XP_047302030.1:p.Ile852Thr, XP_047302028.1:p.Ile852Thr, XP_047302032.1:p.Ile826Thr, XP_047302033.1:p.Ile801Thr, XP_047302031.1:p.Ile852Thr

Select item 147660412013.

rs1476604120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:218632193 (GRCh38)
2:219496916 (GRCh37)
Canonical SPDI:: NC_000002.12:218632192:G:C
Gene:: PLCD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218632193G>C, NC_000002.11:g.219496916G>C, NM_032726.4:c.1330G>C, NM_032726.3:c.1330G>C, XM_005246913.3:c.1330G>C, XM_005246913.2:c.1330G>C, XM_005246913.1:c.1330G>C, XM_011512012.2:c.1330G>C, XM_011512012.1:c.1330G>C, XM_024453182.2:c.1330G>C, XM_024453182.1:c.1330G>C, XM_047446074.1:c.1330G>C, XM_047446072.1:c.1330G>C, XM_047446076.1:c.1330G>C, XM_047446077.1:c.1177G>C, XM_047446075.1:c.1330G>C, XM_047446078.1:c.1330G>C, NP_116115.1:p.Glu444Gln, XP_005246970.1:p.Glu444Gln, XP_011510314.1:p.Glu444Gln, XP_024308950.1:p.Glu444Gln, XP_047302030.1:p.Glu444Gln, XP_047302028.1:p.Glu444Gln, XP_047302032.1:p.Glu444Gln, XP_047302033.1:p.Glu393Gln, XP_047302031.1:p.Glu444Gln, XP_047302034.1:p.Glu444Gln

Select item 147656319614.

rs1476563196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218621557 (GRCh38)
2:219486280 (GRCh37)
Canonical SPDI:: NC_000002.12:218621556:G:A
Gene:: PLCD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.218621557G>A, NC_000002.11:g.219486280G>A, NM_032726.4:c.498G>A, NM_032726.3:c.498G>A, XM_005246913.3:c.498G>A, XM_005246913.2:c.498G>A, XM_005246913.1:c.498G>A, XM_011512012.2:c.498G>A, XM_011512012.1:c.498G>A, XM_024453182.2:c.498G>A, XM_024453182.1:c.498G>A, XM_047446074.1:c.498G>A, XM_047446072.1:c.498G>A, XM_047446076.1:c.498G>A, XM_047446077.1:c.498G>A, XM_047446075.1:c.498G>A, XM_047446078.1:c.498G>A, NP_116115.1:p.Met166Ile, XP_005246970.1:p.Met166Ile, XP_011510314.1:p.Met166Ile, XP_024308950.1:p.Met166Ile, XP_047302030.1:p.Met166Ile, XP_047302028.1:p.Met166Ile, XP_047302032.1:p.Met166Ile, XP_047302033.1:p.Met166Ile, XP_047302031.1:p.Met166Ile, XP_047302034.1:p.Met166Ile

Select item 147201924715.

rs1472019247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218634146 (GRCh38)
2:219498869 (GRCh37)
Canonical SPDI:: NC_000002.12:218634145:G:A
Gene:: ZNF142 (Varview), PLCD4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
HGVS:: NC_000002.12:g.218634146G>A, NC_000002.11:g.219498869G>A, NM_032726.4:c.1648G>A, NM_032726.3:c.1648G>A, NM_001366290.3:c.*4193C>T, XM_011511786.3:c.*4193C>T, XM_011511788.3:c.*4193C>T, XM_005246913.3:c.1648G>A, XM_005246913.2:c.1648G>A, XM_005246913.1:c.1648G>A, XM_011512012.2:c.1744G>A, XM_011512012.1:c.1744G>A, XM_024453182.2:c.1744G>A, XM_024453182.1:c.1744G>A, XM_047445777.1:c.*4193C>T, NM_001379659.1:c.*4193C>T, NM_001379661.1:c.*4193C>T, NM_001379660.1:c.*4193C>T, XM_047445779.1:c.*4193C>T, NM_001379662.1:c.*4193C>T, XM_047445778.1:c.*4193C>T, XM_047445780.1:c.*4193C>T, XM_047445781.1:c.*4193C>T, XM_047445782.1:c.*4193C>T, XM_047445783.1:c.*4193C>T, XM_047445784.1:c.*4193C>T, XM_047446074.1:c.1867G>A, XM_047446072.1:c.1867G>A, XM_047446076.1:c.1867G>A, XM_047446077.1:c.1714G>A, XM_047446075.1:c.1867G>A, XM_047446078.1:c.*6G>A, NP_116115.1:p.Val550Met, XP_005246970.1:p.Val550Met, XP_011510314.1:p.Val582Met, XP_024308950.1:p.Val582Met, XP_047302030.1:p.Val623Met, XP_047302028.1:p.Val623Met, XP_047302032.1:p.Val623Met, XP_047302033.1:p.Val572Met, XP_047302031.1:p.Val623Met

Select item 147194396516.

rs1471943965 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218636297 (GRCh38)
2:219501020 (GRCh37)
Canonical SPDI:: NC_000002.12:218636296:T:C
Gene:: ZNF142 (Varview), PLCD4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218636297T>C, NC_000002.11:g.219501020T>C, NG_033099.1:g.28244A>G, NM_001105537.4:c.*2042A>G, NM_001366290.3:c.*2042A>G, NM_001366290.2:c.*2042A>G, NM_001366291.2:c.*2042A>G, NM_001366287.2:c.*2042A>G, NM_001366288.2:c.*2042A>G, NM_001366289.2:c.*2042A>G, NM_001379659.1:c.*2042A>G, NM_001379661.1:c.*2042A>G, NM_001379660.1:c.*2042A>G, NM_001379662.1:c.*2042A>G, NM_032726.4:c.2087T>C, NM_032726.3:c.2087T>C, XM_011511786.3:c.*2042A>G, XM_011511788.3:c.*2042A>G, XM_005246913.3:c.2087T>C, XM_005246913.2:c.2087T>C, XM_005246913.1:c.2087T>C, XM_011512012.2:c.2183T>C, XM_011512012.1:c.2183T>C, XM_024453182.2:c.2183T>C, XM_024453182.1:c.2183T>C, XM_047445777.1:c.*2042A>G, XM_047445779.1:c.*2042A>G, XM_047445778.1:c.*2042A>G, XM_047445780.1:c.*2042A>G, XM_047445781.1:c.*2042A>G, XM_047445782.1:c.*2042A>G, XM_047445783.1:c.*2042A>G, XM_047445784.1:c.*2042A>G, XM_047446074.1:c.2306T>C, XM_047446072.1:c.2306T>C, XM_047446076.1:c.2306T>C, XM_047446077.1:c.2153T>C, XM_047446075.1:c.2306T>C, NP_116115.1:p.Leu696Pro, XP_005246970.1:p.Leu696Pro, XP_011510314.1:p.Leu728Pro, XP_024308950.1:p.Leu728Pro, XP_047302030.1:p.Leu769Pro, XP_047302028.1:p.Leu769Pro, XP_047302032.1:p.Leu769Pro, XP_047302033.1:p.Leu718Pro, XP_047302031.1:p.Leu769Pro

Select item 146929119217.

rs1469291192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:218632248 (GRCh38)
2:219496971 (GRCh37)
Canonical SPDI:: NC_000002.12:218632247:A:T
Gene:: PLCD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.218632248A>T, NC_000002.11:g.219496971A>T, NM_032726.4:c.1385A>T, NM_032726.3:c.1385A>T, XM_005246913.3:c.1385A>T, XM_005246913.2:c.1385A>T, XM_005246913.1:c.1385A>T, XM_011512012.2:c.1385A>T, XM_011512012.1:c.1385A>T, XM_024453182.2:c.1385A>T, XM_024453182.1:c.1385A>T, XM_047446074.1:c.1385A>T, XM_047446072.1:c.1385A>T, XM_047446076.1:c.1385A>T, XM_047446077.1:c.1232A>T, XM_047446075.1:c.1385A>T, XM_047446078.1:c.1385A>T, NP_116115.1:p.Glu462Val, XP_005246970.1:p.Glu462Val, XP_011510314.1:p.Glu462Val, XP_024308950.1:p.Glu462Val, XP_047302030.1:p.Glu462Val, XP_047302028.1:p.Glu462Val, XP_047302032.1:p.Glu462Val, XP_047302033.1:p.Glu411Val, XP_047302031.1:p.Glu462Val, XP_047302034.1:p.Glu462Val

Select item 146880381718.

rs1468803817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218635890 (GRCh38)
2:219500613 (GRCh37)
Canonical SPDI:: NC_000002.12:218635889:T:C
Gene:: ZNF142 (Varview), PLCD4 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.218635890T>C, NC_000002.11:g.219500613T>C, NM_032726.4:c.1991T>C, NM_032726.3:c.1991T>C, NM_001366290.3:c.*2449A>G, XM_011511786.3:c.*2449A>G, XM_011511788.3:c.*2449A>G, XM_005246913.3:c.1991T>C, XM_005246913.2:c.1991T>C, XM_005246913.1:c.1991T>C, XM_011512012.2:c.2087T>C, XM_011512012.1:c.2087T>C, XM_024453182.2:c.2087T>C, XM_024453182.1:c.2087T>C, XM_047445777.1:c.*2449A>G, NM_001379659.1:c.*2449A>G, NM_001379661.1:c.*2449A>G, NM_001379660.1:c.*2449A>G, XM_047445779.1:c.*2449A>G, NM_001379662.1:c.*2449A>G, XM_047445778.1:c.*2449A>G, XM_047445780.1:c.*2449A>G, XM_047445781.1:c.*2449A>G, XM_047445782.1:c.*2449A>G, XM_047445783.1:c.*2449A>G, XM_047445784.1:c.*2449A>G, XM_047446074.1:c.2210T>C, XM_047446072.1:c.2210T>C, XM_047446076.1:c.2210T>C, XM_047446077.1:c.2057T>C, XM_047446075.1:c.2210T>C, NP_116115.1:p.Leu664Pro, XP_005246970.1:p.Leu664Pro, XP_011510314.1:p.Leu696Pro, XP_024308950.1:p.Leu696Pro, XP_047302030.1:p.Leu737Pro, XP_047302028.1:p.Leu737Pro, XP_047302032.1:p.Leu737Pro, XP_047302033.1:p.Leu686Pro, XP_047302031.1:p.Leu737Pro

Select item 146774924819.

rs1467749248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218632245 (GRCh38)
2:219496968 (GRCh37)
Canonical SPDI:: NC_000002.12:218632244:T:C
Gene:: PLCD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218632245T>C, NC_000002.11:g.219496968T>C, NM_032726.4:c.1382T>C, NM_032726.3:c.1382T>C, XM_005246913.3:c.1382T>C, XM_005246913.2:c.1382T>C, XM_005246913.1:c.1382T>C, XM_011512012.2:c.1382T>C, XM_011512012.1:c.1382T>C, XM_024453182.2:c.1382T>C, XM_024453182.1:c.1382T>C, XM_047446074.1:c.1382T>C, XM_047446072.1:c.1382T>C, XM_047446076.1:c.1382T>C, XM_047446077.1:c.1229T>C, XM_047446075.1:c.1382T>C, XM_047446078.1:c.1382T>C, NP_116115.1:p.Leu461Pro, XP_005246970.1:p.Leu461Pro, XP_011510314.1:p.Leu461Pro, XP_024308950.1:p.Leu461Pro, XP_047302030.1:p.Leu461Pro, XP_047302028.1:p.Leu461Pro, XP_047302032.1:p.Leu461Pro, XP_047302033.1:p.Leu410Pro, XP_047302031.1:p.Leu461Pro, XP_047302034.1:p.Leu461Pro

Select item 146537293520.

rs1465372935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218632222 (GRCh38)
2:219496945 (GRCh37)
Canonical SPDI:: NC_000002.12:218632221:G:A
Gene:: PLCD4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218632222G>A, NC_000002.11:g.219496945G>A, NM_032726.4:c.1359G>A, NM_032726.3:c.1359G>A, XM_005246913.3:c.1359G>A, XM_005246913.2:c.1359G>A, XM_005246913.1:c.1359G>A, XM_011512012.2:c.1359G>A, XM_011512012.1:c.1359G>A, XM_024453182.2:c.1359G>A, XM_024453182.1:c.1359G>A, XM_047446074.1:c.1359G>A, XM_047446072.1:c.1359G>A, XM_047446076.1:c.1359G>A, XM_047446077.1:c.1206G>A, XM_047446075.1:c.1359G>A, XM_047446078.1:c.1359G>A

<< First< Prev

Page of 36

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 705

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity