SNP Links for Protein (Select 21361576) - SNP

Links from Protein

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Select item 14824567321.

rs1482456732 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:31364164 (GRCh38)
1:31837011 (GRCh37)
Canonical SPDI:: NC_000001.11:31364163:A:G
Gene:: FABP3 (Varview), ZCCHC17 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.31364164A>G, NC_000001.10:g.31837011A>G, NG_047049.1:g.14120T>C, NM_016505.4:c.697A>G, NM_016505.3:c.697A>G, NM_016505.2:c.697A>G, NM_001282568.2:c.697A>G, NM_001282568.1:c.697A>G, NM_001282569.2:c.673A>G, NM_001282569.1:c.673A>G, NM_001282566.2:c.763A>G, NM_001282566.1:c.763A>G, NM_001282567.2:c.703A>G, NM_001282567.1:c.703A>G, NM_001282571.2:c.511A>G, NM_001282571.1:c.511A>G, NM_001282570.2:c.625A>G, NM_001282570.1:c.625A>G, NM_001282574.2:c.*110A>G, NM_001282574.1:c.*110A>G, NM_001282573.2:c.426A>G, NM_001282573.1:c.426A>G, NM_001282572.2:c.450A>G, NM_001282572.1:c.450A>G, XM_047422508.1:c.697A>G, NP_057589.2:p.Lys233Glu, NP_001269497.1:p.Lys233Glu, NP_001269498.1:p.Lys225Glu, NP_001269495.1:p.Lys255Glu, NP_001269496.1:p.Lys235Glu, NP_001269500.1:p.Lys171Glu, NP_001269499.1:p.Lys209Glu, XP_047278464.1:p.Lys233Glu

Select item 14732134752.

rs1473213475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:31348829 (GRCh38)
1:31821676 (GRCh37)
Canonical SPDI:: NC_000001.11:31348828:G:T
Gene:: ZCCHC17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.31348829G>T, NC_000001.10:g.31821676G>T, NM_016505.4:c.419G>T, NM_016505.3:c.419G>T, NM_016505.2:c.419G>T, NM_001282568.2:c.419G>T, NM_001282568.1:c.419G>T, NM_001282569.2:c.395G>T, NM_001282569.1:c.395G>T, NM_001282566.2:c.485G>T, NM_001282566.1:c.485G>T, NM_001282567.2:c.425G>T, NM_001282567.1:c.425G>T, NM_001282571.2:c.233G>T, NM_001282571.1:c.233G>T, NM_001282570.2:c.347G>T, NM_001282570.1:c.347G>T, XM_047422508.1:c.419G>T, NP_057589.2:p.Gly140Val, NP_001269497.1:p.Gly140Val, NP_001269498.1:p.Gly132Val, NP_001269495.1:p.Gly162Val, NP_001269496.1:p.Cys142Phe, NP_001269500.1:p.Gly78Val, NP_001269499.1:p.Gly116Val, XP_047278464.1:p.Gly140Val

Select item 14704215173.

rs1470421517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:31338962 (GRCh38)
1:31811809 (GRCh37)
Canonical SPDI:: NC_000001.11:31338961:A:C
Gene:: ZCCHC17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31338962A>C, NC_000001.10:g.31811809A>C, NM_016505.4:c.231A>C, NM_016505.3:c.231A>C, NM_016505.2:c.231A>C, NM_001282568.2:c.231A>C, NM_001282568.1:c.231A>C, NM_001282569.2:c.207A>C, NM_001282569.1:c.207A>C, NM_001282566.2:c.297A>C, NM_001282566.1:c.297A>C, NM_001282567.2:c.159A>C, NM_001282567.1:c.159A>C, NM_001282571.2:c.45A>C, NM_001282571.1:c.45A>C, NM_001282570.2:c.159A>C, NM_001282570.1:c.159A>C, NM_001282574.2:c.231A>C, NM_001282574.1:c.231A>C, NM_001282573.2:c.207A>C, NM_001282573.1:c.207A>C, NM_001282572.2:c.231A>C, NM_001282572.1:c.231A>C, XM_047422508.1:c.231A>C, NP_057589.2:p.Lys77Asn, NP_001269497.1:p.Lys77Asn, NP_001269498.1:p.Lys69Asn, NP_001269495.1:p.Lys99Asn, NP_001269496.1:p.Lys53Asn, NP_001269500.1:p.Lys15Asn, NP_001269499.1:p.Lys53Asn, NP_001269503.1:p.Lys77Asn, NP_001269502.1:p.Lys69Asn, NP_001269501.1:p.Lys77Asn, XP_047278464.1:p.Lys77Asn

Select item 14640570884.

rs1464057088 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:31346713 (GRCh38)
1:31819560 (GRCh37)
Canonical SPDI:: NC_000001.11:31346712:A:T
Gene:: ZCCHC17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.31346713A>T, NC_000001.10:g.31819560A>T, NM_016505.4:c.391A>T, NM_016505.3:c.391A>T, NM_016505.2:c.391A>T, NM_001282568.2:c.391A>T, NM_001282568.1:c.391A>T, NM_001282569.2:c.367A>T, NM_001282569.1:c.367A>T, NM_001282566.2:c.457A>T, NM_001282566.1:c.457A>T, NM_001282567.2:c.319A>T, NM_001282567.1:c.319A>T, NM_001282571.2:c.205A>T, NM_001282571.1:c.205A>T, NM_001282570.2:c.319A>T, NM_001282570.1:c.319A>T, NM_001282574.2:c.391A>T, NM_001282574.1:c.391A>T, XM_047422508.1:c.391A>T, NP_057589.2:p.Thr131Ser, NP_001269497.1:p.Thr131Ser, NP_001269498.1:p.Thr123Ser, NP_001269495.1:p.Thr153Ser, NP_001269496.1:p.Thr107Ser, NP_001269500.1:p.Thr69Ser, NP_001269499.1:p.Thr107Ser, NP_001269503.1:p.Thr131Ser, XP_047278464.1:p.Thr131Ser

Select item 14586737195.

rs1458673719 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAGGAAGAGG>- [Show Flanks]
Chromosome:: 1:31348901 (GRCh38)
1:31821748 (GRCh37)
Canonical SPDI:: NC_000001.11:31348891:AGGAAGAGGAAAAGGAAGAGG:AGGAAGAGG
Gene:: ZCCHC17 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AGGAAGAGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.31348901_31348912del, NC_000001.10:g.31821748_31821759del, NM_016505.4:c.491_502del, NM_016505.3:c.491_502del, NM_016505.2:c.491_502del, NM_001282568.2:c.491_502del, NM_001282568.1:c.491_502del, NM_001282569.2:c.467_478del, NM_001282569.1:c.467_478del, NM_001282566.2:c.557_568del, NM_001282566.1:c.557_568del, NM_001282567.2:c.497_508del, NM_001282567.1:c.497_508del, NM_001282571.2:c.305_316del, NM_001282571.1:c.305_316del, NM_001282570.2:c.419_430del, NM_001282570.1:c.419_430del, XM_047422508.1:c.491_502del, NP_057589.2:p.Glu164_Glu167del, NP_001269497.1:p.Glu164_Glu167del, NP_001269498.1:p.Glu156_Glu159del, NP_001269495.1:p.Glu186_Glu189del, NP_001269496.1:p.Glu166_Glu169del, NP_001269500.1:p.Glu102_Glu105del, NP_001269499.1:p.Glu140_Glu143del, XP_047278464.1:p.Glu164_Glu167del

Select item 14535651346.

rs1453565134 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>- [Show Flanks]
Chromosome:: 1:31364157 (GRCh38)
1:31837004 (GRCh37)
Canonical SPDI:: NC_000001.11:31364154:AAAAA:AA
Gene:: FABP3 (Varview), ZCCHC17 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.31364157_31364159del, NC_000001.10:g.31837004_31837006del, NG_047049.1:g.14127_14129del, NM_016505.4:c.690_692del, NM_016505.3:c.690_692del, NM_016505.2:c.690_692del, NM_001282568.2:c.690_692del, NM_001282568.1:c.690_692del, NM_001282569.2:c.666_668del, NM_001282569.1:c.666_668del, NM_001282566.2:c.756_758del, NM_001282566.1:c.756_758del, NM_001282567.2:c.696_698del, NM_001282567.1:c.696_698del, NM_001282571.2:c.504_506del, NM_001282571.1:c.504_506del, NM_001282570.2:c.618_620del, NM_001282570.1:c.618_620del, NM_001282574.2:c.*103_*105del, NM_001282574.1:c.*103_*105del, NM_001282573.2:c.419_421del, NM_001282573.1:c.419_421del, NM_001282572.2:c.443_445del, NM_001282572.1:c.443_445del, XM_047422508.1:c.690_692del, NP_057589.2:p.Lys234del, NP_001269497.1:p.Lys234del, NP_001269498.1:p.Lys226del, NP_001269495.1:p.Lys256del, NP_001269496.1:p.Lys236del, NP_001269500.1:p.Lys172del, NP_001269499.1:p.Lys210del, NP_001269502.1:p.Lys140del, NP_001269501.1:p.Lys148del, XP_047278464.1:p.Lys234del

Select item 14521764457.

rs1452176445 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:31348924 (GRCh38)
1:31821771 (GRCh37)
Canonical SPDI:: NC_000001.11:31348923:G:
Gene:: ZCCHC17 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.31348924del, NC_000001.10:g.31821771del, NM_016505.4:c.514del, NM_016505.3:c.514del, NM_016505.2:c.514del, NM_001282568.2:c.514del, NM_001282568.1:c.514del, NM_001282569.2:c.490del, NM_001282569.1:c.490del, NM_001282566.2:c.580del, NM_001282566.1:c.580del, NM_001282567.2:c.520del, NM_001282567.1:c.520del, NM_001282571.2:c.328del, NM_001282571.1:c.328del, NM_001282570.2:c.442del, NM_001282570.1:c.442del, XM_047422508.1:c.514del, NP_057589.2:p.Glu172fs, NP_001269497.1:p.Glu172fs, NP_001269498.1:p.Glu164fs, NP_001269495.1:p.Glu194fs, NP_001269496.1:p.Glu174fs, NP_001269500.1:p.Glu110fs, NP_001269499.1:p.Glu148fs, XP_047278464.1:p.Glu172fs

Select item 14502523688.

rs1450252368 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:31319110 (GRCh38)
1:31791957 (GRCh37)
Canonical SPDI:: NC_000001.11:31319109:T:C,NC_000001.11:31319109:T:G
Gene:: ZCCHC17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_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.31319110T>C, NC_000001.11:g.31319110T>G, NC_000001.10:g.31791957T>C, NC_000001.10:g.31791957T>G, NM_016505.4:c.68T>C, NM_016505.4:c.68T>G, NM_016505.3:c.68T>C, NM_016505.3:c.68T>G, NM_016505.2:c.68T>C, NM_016505.2:c.68T>G, NM_001282568.2:c.68T>C, NM_001282568.2:c.68T>G, NM_001282568.1:c.68T>C, NM_001282568.1:c.68T>G, NM_001282569.2:c.44T>C, NM_001282569.2:c.44T>G, NM_001282569.1:c.44T>C, NM_001282569.1:c.44T>G, NM_001282566.2:c.134T>C, NM_001282566.2:c.134T>G, NM_001282566.1:c.134T>C, NM_001282566.1:c.134T>G, NM_001282567.2:c.-5T>C, NM_001282567.2:c.-5T>G, NM_001282567.1:c.-5T>C, NM_001282567.1:c.-5T>G, NM_001282571.2:c.-18T>C, NM_001282571.2:c.-18T>G, NM_001282571.1:c.-18T>C, NM_001282571.1:c.-18T>G, NM_001282570.2:c.-5T>C, NM_001282570.2:c.-5T>G, NM_001282570.1:c.-5T>C, NM_001282570.1:c.-5T>G, NM_001282574.2:c.68T>C, NM_001282574.2:c.68T>G, NM_001282574.1:c.68T>C, NM_001282574.1:c.68T>G, NM_001282573.2:c.44T>C, NM_001282573.2:c.44T>G, NM_001282573.1:c.44T>C, NM_001282573.1:c.44T>G, NM_001282572.2:c.68T>C, NM_001282572.2:c.68T>G, NM_001282572.1:c.68T>C, NM_001282572.1:c.68T>G, XM_047422508.1:c.68T>C, XM_047422508.1:c.68T>G, NP_057589.2:p.Val23Ala, NP_057589.2:p.Val23Gly, NP_001269497.1:p.Val23Ala, NP_001269497.1:p.Val23Gly, NP_001269498.1:p.Val15Ala, NP_001269498.1:p.Val15Gly, NP_001269495.1:p.Val45Ala, NP_001269495.1:p.Val45Gly, NP_001269503.1:p.Val23Ala, NP_001269503.1:p.Val23Gly, NP_001269502.1:p.Val15Ala, NP_001269502.1:p.Val15Gly, NP_001269501.1:p.Val23Ala, NP_001269501.1:p.Val23Gly, XP_047278464.1:p.Val23Ala, XP_047278464.1:p.Val23Gly

Select item 14491845579.

rs1449184557 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:31338995 (GRCh38)
1:31811842 (GRCh37)
Canonical SPDI:: NC_000001.11:31338994:GG:G
Gene:: ZCCHC17 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.31338996del, NC_000001.10:g.31811843del, NM_016505.4:c.265del, NM_016505.3:c.265del, NM_016505.2:c.265del, NM_001282568.2:c.265del, NM_001282568.1:c.265del, NM_001282569.2:c.241del, NM_001282569.1:c.241del, NM_001282566.2:c.331del, NM_001282566.1:c.331del, NM_001282567.2:c.193del, NM_001282567.1:c.193del, NM_001282571.2:c.79del, NM_001282571.1:c.79del, NM_001282570.2:c.193del, NM_001282570.1:c.193del, NM_001282574.2:c.265del, NM_001282574.1:c.265del, NM_001282573.2:c.241del, NM_001282573.1:c.241del, NM_001282572.2:c.265del, NM_001282572.1:c.265del, XM_047422508.1:c.265del, NP_057589.2:p.Val89fs, NP_001269497.1:p.Val89fs, NP_001269498.1:p.Val81fs, NP_001269495.1:p.Val111fs, NP_001269496.1:p.Val65fs, NP_001269500.1:p.Val27fs, NP_001269499.1:p.Val65fs, NP_001269503.1:p.Val89fs, NP_001269502.1:p.Val81fs, NP_001269501.1:p.Val89fs, XP_047278464.1:p.Val89fs

Select item 144863534810.

rs1448635348 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:31364053 (GRCh38)
1:31836900 (GRCh37)
Canonical SPDI:: NC_000001.11:31364052:A:G
Gene:: FABP3 (Varview), ZCCHC17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,terminator_codon_variant,stop_lost
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.31364053A>G, NC_000001.10:g.31836900A>G, NG_047049.1:g.14231T>C, NM_016505.4:c.586A>G, NM_016505.3:c.586A>G, NM_016505.2:c.586A>G, NM_001282568.2:c.586A>G, NM_001282568.1:c.586A>G, NM_001282569.2:c.562A>G, NM_001282569.1:c.562A>G, NM_001282566.2:c.652A>G, NM_001282566.1:c.652A>G, NM_001282567.2:c.592A>G, NM_001282567.1:c.592A>G, NM_001282571.2:c.400A>G, NM_001282571.1:c.400A>G, NM_001282570.2:c.514A>G, NM_001282570.1:c.514A>G, NM_001282574.2:c.440A>G, NM_001282574.1:c.440A>G, NM_001282573.2:c.315A>G, NM_001282573.1:c.315A>G, NM_001282572.2:c.339A>G, NM_001282572.1:c.339A>G, XM_047422508.1:c.586A>G, NP_057589.2:p.Arg196Gly, NP_001269497.1:p.Arg196Gly, NP_001269498.1:p.Arg188Gly, NP_001269495.1:p.Arg218Gly, NP_001269496.1:p.Arg198Gly, NP_001269500.1:p.Arg134Gly, NP_001269499.1:p.Arg172Gly, NP_001269503.1:p.Ter147Trp, NP_001269502.1:p.Ile105Met, NP_001269501.1:p.Ile113Met, XP_047278464.1:p.Arg196Gly

Select item 144224925811.

rs1442249258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:31364133 (GRCh38)
1:31836980 (GRCh37)
Canonical SPDI:: NC_000001.11:31364132:C:G,NC_000001.11:31364132:C:T
Gene:: FABP3 (Varview), ZCCHC17 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.31364133C>G, NC_000001.11:g.31364133C>T, NC_000001.10:g.31836980C>G, NC_000001.10:g.31836980C>T, NG_047049.1:g.14151G>C, NG_047049.1:g.14151G>A, NM_016505.4:c.666C>G, NM_016505.4:c.666C>T, NM_016505.3:c.666C>G, NM_016505.3:c.666C>T, NM_016505.2:c.666C>G, NM_016505.2:c.666C>T, NM_001282568.2:c.666C>G, NM_001282568.2:c.666C>T, NM_001282568.1:c.666C>G, NM_001282568.1:c.666C>T, NM_001282569.2:c.642C>G, NM_001282569.2:c.642C>T, NM_001282569.1:c.642C>G, NM_001282569.1:c.642C>T, NM_001282566.2:c.732C>G, NM_001282566.2:c.732C>T, NM_001282566.1:c.732C>G, NM_001282566.1:c.732C>T, NM_001282567.2:c.672C>G, NM_001282567.2:c.672C>T, NM_001282567.1:c.672C>G, NM_001282567.1:c.672C>T, NM_001282571.2:c.480C>G, NM_001282571.2:c.480C>T, NM_001282571.1:c.480C>G, NM_001282571.1:c.480C>T, NM_001282570.2:c.594C>G, NM_001282570.2:c.594C>T, NM_001282570.1:c.594C>G, NM_001282570.1:c.594C>T, NM_001282574.2:c.*79C>G, NM_001282574.2:c.*79C>T, NM_001282574.1:c.*79C>G, NM_001282574.1:c.*79C>T, NM_001282573.2:c.395C>G, NM_001282573.2:c.395C>T, NM_001282573.1:c.395C>G, NM_001282573.1:c.395C>T, NM_001282572.2:c.419C>G, NM_001282572.2:c.419C>T, NM_001282572.1:c.419C>G, NM_001282572.1:c.419C>T, XM_047422508.1:c.666C>G, XM_047422508.1:c.666C>T, NP_057589.2:p.Asp222Glu, NP_001269497.1:p.Asp222Glu, NP_001269498.1:p.Asp214Glu, NP_001269495.1:p.Asp244Glu, NP_001269496.1:p.Asp224Glu, NP_001269500.1:p.Asp160Glu, NP_001269499.1:p.Asp198Glu, NP_001269502.1:p.Thr132Arg, NP_001269502.1:p.Thr132Ile, NP_001269501.1:p.Thr140Arg, NP_001269501.1:p.Thr140Ile, XP_047278464.1:p.Asp222Glu

Select item 144136081912.

rs1441360819 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:31348836 (GRCh38)
1:31821683 (GRCh37)
Canonical SPDI:: NC_000001.11:31348835:T:C
Gene:: ZCCHC17 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.31348836T>C, NC_000001.10:g.31821683T>C, NM_016505.4:c.426T>C, NM_016505.3:c.426T>C, NM_016505.2:c.426T>C, NM_001282568.2:c.426T>C, NM_001282568.1:c.426T>C, NM_001282569.2:c.402T>C, NM_001282569.1:c.402T>C, NM_001282566.2:c.492T>C, NM_001282566.1:c.492T>C, NM_001282567.2:c.432T>C, NM_001282567.1:c.432T>C, NM_001282571.2:c.240T>C, NM_001282571.1:c.240T>C, NM_001282570.2:c.354T>C, NM_001282570.1:c.354T>C, XM_047422508.1:c.426T>C

Select item 144073996013.

rs1440739960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:31348937 (GRCh38)
1:31821784 (GRCh37)
Canonical SPDI:: NC_000001.11:31348936:C:T
Gene:: ZCCHC17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31348937C>T, NC_000001.10:g.31821784C>T, NM_016505.4:c.527C>T, NM_016505.3:c.527C>T, NM_016505.2:c.527C>T, NM_001282568.2:c.527C>T, NM_001282568.1:c.527C>T, NM_001282569.2:c.503C>T, NM_001282569.1:c.503C>T, NM_001282566.2:c.593C>T, NM_001282566.1:c.593C>T, NM_001282567.2:c.533C>T, NM_001282567.1:c.533C>T, NM_001282571.2:c.341C>T, NM_001282571.1:c.341C>T, NM_001282570.2:c.455C>T, NM_001282570.1:c.455C>T, XM_047422508.1:c.527C>T, NP_057589.2:p.Pro176Leu, NP_001269497.1:p.Pro176Leu, NP_001269498.1:p.Pro168Leu, NP_001269495.1:p.Pro198Leu, NP_001269496.1:p.Pro178Leu, NP_001269500.1:p.Pro114Leu, NP_001269499.1:p.Pro152Leu, XP_047278464.1:p.Pro176Leu

Select item 143389125614.

rs1433891256 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:31339013 (GRCh38)
1:31811860 (GRCh37)
Canonical SPDI:: NC_000001.11:31339012:T:C
Gene:: ZCCHC17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31339013T>C, NC_000001.10:g.31811860T>C, NM_016505.4:c.282T>C, NM_016505.3:c.282T>C, NM_016505.2:c.282T>C, NM_001282568.2:c.282T>C, NM_001282568.1:c.282T>C, NM_001282569.2:c.258T>C, NM_001282569.1:c.258T>C, NM_001282566.2:c.348T>C, NM_001282566.1:c.348T>C, NM_001282567.2:c.210T>C, NM_001282567.1:c.210T>C, NM_001282571.2:c.96T>C, NM_001282571.1:c.96T>C, NM_001282570.2:c.210T>C, NM_001282570.1:c.210T>C, NM_001282574.2:c.282T>C, NM_001282574.1:c.282T>C, NM_001282573.2:c.258T>C, NM_001282573.1:c.258T>C, NM_001282572.2:c.282T>C, NM_001282572.1:c.282T>C, XM_047422508.1:c.282T>C

Select item 143124723515.

rs1431247235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:31319127 (GRCh38)
1:31791974 (GRCh37)
Canonical SPDI:: NC_000001.11:31319126:T:A,NC_000001.11:31319126:T:C
Gene:: ZCCHC17 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.31319127T>A, NC_000001.11:g.31319127T>C, NC_000001.10:g.31791974T>A, NC_000001.10:g.31791974T>C, NM_016505.4:c.85T>A, NM_016505.4:c.85T>C, NM_016505.3:c.85T>A, NM_016505.3:c.85T>C, NM_016505.2:c.85T>A, NM_016505.2:c.85T>C, NM_001282568.2:c.85T>A, NM_001282568.2:c.85T>C, NM_001282568.1:c.85T>A, NM_001282568.1:c.85T>C, NM_001282569.2:c.61T>A, NM_001282569.2:c.61T>C, NM_001282569.1:c.61T>A, NM_001282569.1:c.61T>C, NM_001282566.2:c.151T>A, NM_001282566.2:c.151T>C, NM_001282566.1:c.151T>A, NM_001282566.1:c.151T>C, NM_001282567.2:c.13T>A, NM_001282567.2:c.13T>C, NM_001282567.1:c.13T>A, NM_001282567.1:c.13T>C, NM_001282571.2:c.-1T>A, NM_001282571.2:c.-1T>C, NM_001282571.1:c.-1T>A, NM_001282571.1:c.-1T>C, NM_001282570.2:c.13T>A, NM_001282570.2:c.13T>C, NM_001282570.1:c.13T>A, NM_001282570.1:c.13T>C, NM_001282574.2:c.85T>A, NM_001282574.2:c.85T>C, NM_001282574.1:c.85T>A, NM_001282574.1:c.85T>C, NM_001282573.2:c.61T>A, NM_001282573.2:c.61T>C, NM_001282573.1:c.61T>A, NM_001282573.1:c.61T>C, NM_001282572.2:c.85T>A, NM_001282572.2:c.85T>C, NM_001282572.1:c.85T>A, NM_001282572.1:c.85T>C, XM_047422508.1:c.85T>A, XM_047422508.1:c.85T>C, NP_057589.2:p.Tyr29Asn, NP_057589.2:p.Tyr29His, NP_001269497.1:p.Tyr29Asn, NP_001269497.1:p.Tyr29His, NP_001269498.1:p.Tyr21Asn, NP_001269498.1:p.Tyr21His, NP_001269495.1:p.Tyr51Asn, NP_001269495.1:p.Tyr51His, NP_001269496.1:p.Tyr5Asn, NP_001269496.1:p.Tyr5His, NP_001269499.1:p.Tyr5Asn, NP_001269499.1:p.Tyr5His, NP_001269503.1:p.Tyr29Asn, NP_001269503.1:p.Tyr29His, NP_001269502.1:p.Tyr21Asn, NP_001269502.1:p.Tyr21His, NP_001269501.1:p.Tyr29Asn, NP_001269501.1:p.Tyr29His, XP_047278464.1:p.Tyr29Asn, XP_047278464.1:p.Tyr29His

Select item 142548147416.

rs1425481474 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:31346708 (GRCh38)
1:31819555 (GRCh37)
Canonical SPDI:: NC_000001.11:31346707:T:C
Gene:: ZCCHC17 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31346708T>C, NC_000001.10:g.31819555T>C, NM_016505.4:c.386T>C, NM_016505.3:c.386T>C, NM_016505.2:c.386T>C, NM_001282568.2:c.386T>C, NM_001282568.1:c.386T>C, NM_001282569.2:c.362T>C, NM_001282569.1:c.362T>C, NM_001282566.2:c.452T>C, NM_001282566.1:c.452T>C, NM_001282567.2:c.314T>C, NM_001282567.1:c.314T>C, NM_001282571.2:c.200T>C, NM_001282571.1:c.200T>C, NM_001282570.2:c.314T>C, NM_001282570.1:c.314T>C, NM_001282574.2:c.386T>C, NM_001282574.1:c.386T>C, XM_047422508.1:c.386T>C, NP_057589.2:p.Leu129Ser, NP_001269497.1:p.Leu129Ser, NP_001269498.1:p.Leu121Ser, NP_001269495.1:p.Leu151Ser, NP_001269496.1:p.Leu105Ser, NP_001269500.1:p.Leu67Ser, NP_001269499.1:p.Leu105Ser, NP_001269503.1:p.Leu129Ser, XP_047278464.1:p.Leu129Ser

Select item 142082621217.

rs1420826212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:31348837 (GRCh38)
1:31821684 (GRCh37)
Canonical SPDI:: NC_000001.11:31348836:G:C
Gene:: ZCCHC17 (Varview)
Functional Consequence:: coding_sequence_variant,intron_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_000001.11:g.31348837G>C, NC_000001.10:g.31821684G>C, NM_016505.4:c.427G>C, NM_016505.3:c.427G>C, NM_016505.2:c.427G>C, NM_001282568.2:c.427G>C, NM_001282568.1:c.427G>C, NM_001282569.2:c.403G>C, NM_001282569.1:c.403G>C, NM_001282566.2:c.493G>C, NM_001282566.1:c.493G>C, NM_001282567.2:c.433G>C, NM_001282567.1:c.433G>C, NM_001282571.2:c.241G>C, NM_001282571.1:c.241G>C, NM_001282570.2:c.355G>C, NM_001282570.1:c.355G>C, XM_047422508.1:c.427G>C, NP_057589.2:p.Ala143Pro, NP_001269497.1:p.Ala143Pro, NP_001269498.1:p.Ala135Pro, NP_001269495.1:p.Ala165Pro, NP_001269496.1:p.Ala145Pro, NP_001269500.1:p.Ala81Pro, NP_001269499.1:p.Ala119Pro, XP_047278464.1:p.Ala143Pro

Select item 141601612918.

rs1416016129 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAA>- [Show Flanks]
Chromosome:: 1:31364046 (GRCh38)
1:31836893 (GRCh37)
Canonical SPDI:: NC_000001.11:31364042:AAAGAAA:AAA
Gene:: FABP3 (Varview), ZCCHC17 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31364046_31364049del, NC_000001.10:g.31836893_31836896del, NG_047049.1:g.14238_14241del, NM_016505.4:c.579_582del, NM_016505.3:c.579_582del, NM_016505.2:c.579_582del, NM_001282568.2:c.579_582del, NM_001282568.1:c.579_582del, NM_001282569.2:c.555_558del, NM_001282569.1:c.555_558del, NM_001282566.2:c.645_648del, NM_001282566.1:c.645_648del, NM_001282567.2:c.585_588del, NM_001282567.1:c.585_588del, NM_001282571.2:c.393_396del, NM_001282571.1:c.393_396del, NM_001282570.2:c.507_510del, NM_001282570.1:c.507_510del, NM_001282574.2:c.433_436del, NM_001282574.1:c.433_436del, NM_001282573.2:c.308_311del, NM_001282573.1:c.308_311del, NM_001282572.2:c.332_335del, NM_001282572.1:c.332_335del, XM_047422508.1:c.579_582del, NP_057589.2:p.Lys193fs, NP_001269497.1:p.Lys193fs, NP_001269498.1:p.Lys185fs, NP_001269495.1:p.Lys215fs, NP_001269496.1:p.Lys195fs, NP_001269500.1:p.Lys131fs, NP_001269499.1:p.Lys169fs, NP_001269503.1:p.Glu145fs, NP_001269502.1:p.Arg103fs, NP_001269501.1:p.Arg111fs, XP_047278464.1:p.Lys193fs

Select item 141435346719.

rs1414353467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:31346688 (GRCh38)
1:31819535 (GRCh37)
Canonical SPDI:: NC_000001.11:31346687:G:C
Gene:: ZCCHC17 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31346688G>C, NC_000001.10:g.31819535G>C, NM_016505.4:c.366G>C, NM_016505.3:c.366G>C, NM_016505.2:c.366G>C, NM_001282568.2:c.366G>C, NM_001282568.1:c.366G>C, NM_001282569.2:c.342G>C, NM_001282569.1:c.342G>C, NM_001282566.2:c.432G>C, NM_001282566.1:c.432G>C, NM_001282567.2:c.294G>C, NM_001282567.1:c.294G>C, NM_001282571.2:c.180G>C, NM_001282571.1:c.180G>C, NM_001282570.2:c.294G>C, NM_001282570.1:c.294G>C, NM_001282574.2:c.366G>C, NM_001282574.1:c.366G>C, XM_047422508.1:c.366G>C, NP_057589.2:p.Lys122Asn, NP_001269497.1:p.Lys122Asn, NP_001269498.1:p.Lys114Asn, NP_001269495.1:p.Lys144Asn, NP_001269496.1:p.Lys98Asn, NP_001269500.1:p.Lys60Asn, NP_001269499.1:p.Lys98Asn, NP_001269503.1:p.Lys122Asn, XP_047278464.1:p.Lys122Asn

Select item 141105425920.

rs1411054259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:31338999 (GRCh38)
1:31811846 (GRCh37)
Canonical SPDI:: NC_000001.11:31338998:G:A
Gene:: ZCCHC17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.31338999G>A, NC_000001.10:g.31811846G>A, NM_016505.4:c.268G>A, NM_016505.3:c.268G>A, NM_016505.2:c.268G>A, NM_001282568.2:c.268G>A, NM_001282568.1:c.268G>A, NM_001282569.2:c.244G>A, NM_001282569.1:c.244G>A, NM_001282566.2:c.334G>A, NM_001282566.1:c.334G>A, NM_001282567.2:c.196G>A, NM_001282567.1:c.196G>A, NM_001282571.2:c.82G>A, NM_001282571.1:c.82G>A, NM_001282570.2:c.196G>A, NM_001282570.1:c.196G>A, NM_001282574.2:c.268G>A, NM_001282574.1:c.268G>A, NM_001282573.2:c.244G>A, NM_001282573.1:c.244G>A, NM_001282572.2:c.268G>A, NM_001282572.1:c.268G>A, XM_047422508.1:c.268G>A, NP_057589.2:p.Val90Ile, NP_001269497.1:p.Val90Ile, NP_001269498.1:p.Val82Ile, NP_001269495.1:p.Val112Ile, NP_001269496.1:p.Val66Ile, NP_001269500.1:p.Val28Ile, NP_001269499.1:p.Val66Ile, NP_001269503.1:p.Val90Ile, NP_001269502.1:p.Val82Ile, NP_001269501.1:p.Val90Ile, XP_047278464.1:p.Val90Ile

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