SNP Links for Protein (Select 1212624023) - SNP

Links from Protein

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Select item 14895706731.

rs1489570673 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:6760437 (GRCh38)
17:6663757 (GRCh37)
Canonical SPDI:: NC_000017.11:6760437:T:TT
Gene:: XAF1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6760438dup, NC_000017.10:g.6663757dup, NM_017523.5:c.258dup, NM_017523.4:c.258dup, NM_017523.3:c.258dup, NM_199139.4:c.201dup, NM_199139.3:c.201dup, NM_199139.2:c.201dup, NM_001353136.2:c.78dup, NM_001353136.1:c.78dup, NM_001353134.2:c.-286dup, NM_001353134.1:c.-286dup, NM_001353138.2:c.-186dup, NM_001353138.1:c.-186dup, NM_001353137.2:c.-186dup, NM_001353137.1:c.-186dup, NM_001353139.2:c.191dup, NM_001353139.1:c.191dup, NM_001353140.2:c.134dup, NM_001353140.1:c.134dup, XR_934053.2:n.657dup, XR_934053.1:n.887dup, XM_011523948.2:c.564dup, XM_011523948.1:c.564dup, XM_047436317.1:c.276dup, NM_001353135.1:c.258dup, NR_046396.1:n.500dup, NR_046397.1:n.443dup, XM_047436316.1:c.564dup, XR_007065308.1:n.657dup, XR_007065309.1:n.291dup, XR_007065310.1:n.234dup, NP_059993.2:p.Lys87Ter, NP_954590.1:p.Lys68Ter, NP_001340065.1:p.Lys27Ter, NP_001340068.1:p.Ser65fs, NP_001340069.1:p.Ser46fs, XP_011522250.1:p.Lys189Ter, XP_047292273.1:p.Lys93Ter, NP_001340064.1:p.Lys87Ter, XP_047292272.1:p.Lys189Ter

Select item 14893717162.

rs1489371716 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:6770808 (GRCh38)
17:6674128 (GRCh37)
Canonical SPDI:: NC_000017.11:6770808:AAA:AAAA
Gene:: XAF1 (Varview), LOC124903905 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6770811dup, NC_000017.10:g.6674130dup, NM_017523.5:c.676dup, NM_017523.4:c.676dup, NM_017523.3:c.676dup, NM_199139.4:c.619dup, NM_199139.3:c.619dup, NM_199139.2:c.619dup, NR_046398.3:n.456dup, NR_046398.2:n.669dup, NR_046398.1:n.665dup, NM_001353136.2:c.496dup, NM_001353136.1:c.496dup, NM_001353134.2:c.289dup, NM_001353134.1:c.289dup, NM_001353138.2:c.385dup, NM_001353138.1:c.385dup, NM_001353137.2:c.385dup, NM_001353137.1:c.385dup, NM_001353139.2:c.523dup, NM_001353139.1:c.523dup, NM_001353140.2:c.466dup, NM_001353140.1:c.466dup, XM_047436317.1:c.694dup, NM_001353135.1:c.676dup, NR_046396.1:n.832dup, NR_046397.1:n.775dup, XM_047436318.1:c.370dup, XM_047436316.1:c.982dup, NP_059993.2:p.Ser226fs, NP_954590.1:p.Ser207fs, NP_001340065.1:p.Ser166fs, NP_001340063.1:p.Ser97fs, NP_001340067.1:p.Ser129fs, NP_001340066.1:p.Ser129fs, NP_001340068.1:p.Ser175fs, NP_001340069.1:p.Ser156fs, XP_047292273.1:p.Ser232fs, NP_001340064.1:p.Ser226fs, XP_047292274.1:p.Ser124fs, XP_047292272.1:p.Ser328fs

Select item 14873834883.

rs1487383488 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:6770667 (GRCh38)
17:6673986 (GRCh37)
Canonical SPDI:: NC_000017.11:6770666:T:C
Gene:: XAF1 (Varview), LOC124903905 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6770667T>C, NC_000017.10:g.6673986T>C, NM_017523.5:c.532T>C, NM_017523.4:c.532T>C, NM_017523.3:c.532T>C, NM_199139.4:c.475T>C, NM_199139.3:c.475T>C, NM_199139.2:c.475T>C, NR_046398.3:n.312T>C, NR_046398.2:n.525T>C, NR_046398.1:n.521T>C, NM_001353136.2:c.352T>C, NM_001353136.1:c.352T>C, NM_001353134.2:c.145T>C, NM_001353134.1:c.145T>C, NM_001353138.2:c.241T>C, NM_001353138.1:c.241T>C, NM_001353137.2:c.241T>C, NM_001353137.1:c.241T>C, NM_001353139.2:c.379T>C, NM_001353139.1:c.379T>C, NM_001353140.2:c.322T>C, NM_001353140.1:c.322T>C, XR_934053.2:n.1033T>C, XR_934053.1:n.1263T>C, XM_011523948.2:c.*20T>C, XM_011523948.1:c.*20T>C, XM_047436317.1:c.550T>C, NM_001353135.1:c.532T>C, NR_046396.1:n.688T>C, NR_046397.1:n.631T>C, XM_047436318.1:c.226T>C, XM_047436316.1:c.838T>C, NP_059993.2:p.Phe178Leu, NP_954590.1:p.Phe159Leu, NP_001340065.1:p.Phe118Leu, NP_001340063.1:p.Phe49Leu, NP_001340067.1:p.Phe81Leu, NP_001340066.1:p.Phe81Leu, NP_001340068.1:p.Phe127Leu, NP_001340069.1:p.Phe108Leu, XP_047292273.1:p.Phe184Leu, NP_001340064.1:p.Phe178Leu, XP_047292274.1:p.Phe76Leu, XP_047292272.1:p.Phe280Leu

Select item 14836438744.

rs1483643874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6758219 (GRCh38)
17:6661538 (GRCh37)
Canonical SPDI:: NC_000017.11:6758218:C:T
Gene:: XAF1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_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_000017.11:g.6758219C>T, NC_000017.10:g.6661538C>T, NM_017523.5:c.163C>T, NM_017523.4:c.163C>T, NM_017523.3:c.163C>T, NM_199139.4:c.163C>T, NM_199139.3:c.163C>T, NM_199139.2:c.163C>T, NR_046398.3:n.196C>T, NR_046398.2:n.409C>T, NR_046398.1:n.405C>T, NM_001353136.2:c.-424C>T, NM_001353136.1:c.-424C>T, NM_001353134.2:c.-381C>T, NM_001353134.1:c.-381C>T, NM_001353138.2:c.-281C>T, NM_001353138.1:c.-281C>T, NM_001353137.2:c.-224C>T, NM_001353137.1:c.-224C>T, NM_001353139.2:c.96C>T, NM_001353139.1:c.96C>T, NM_001353140.2:c.96C>T, NM_001353140.1:c.96C>T, XM_047436317.1:c.-555C>T, NM_001353135.1:c.163C>T, NR_046396.1:n.405C>T, NR_046397.1:n.405C>T, XR_007065309.1:n.196C>T, XR_007065310.1:n.196C>T, NP_059993.2:p.Gln55Ter, NP_954590.1:p.Gln55Ter, NP_001340064.1:p.Gln55Ter

Select item 14831835215.

rs1483183521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:6770650 (GRCh38)
17:6673969 (GRCh37)
Canonical SPDI:: NC_000017.11:6770649:G:C
Gene:: XAF1 (Varview), LOC124903905 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_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_000017.11:g.6770650G>C, NC_000017.10:g.6673969G>C, NM_017523.5:c.515G>C, NM_017523.4:c.515G>C, NM_017523.3:c.515G>C, NM_199139.4:c.458G>C, NM_199139.3:c.458G>C, NM_199139.2:c.458G>C, NR_046398.3:n.295G>C, NR_046398.2:n.508G>C, NR_046398.1:n.504G>C, NM_001353136.2:c.335G>C, NM_001353136.1:c.335G>C, NM_001353134.2:c.128G>C, NM_001353134.1:c.128G>C, NM_001353138.2:c.224G>C, NM_001353138.1:c.224G>C, NM_001353137.2:c.224G>C, NM_001353137.1:c.224G>C, NM_001353139.2:c.362G>C, NM_001353139.1:c.362G>C, NM_001353140.2:c.305G>C, NM_001353140.1:c.305G>C, XR_934053.2:n.1016G>C, XR_934053.1:n.1246G>C, XM_011523948.2:c.*3G>C, XM_011523948.1:c.*3G>C, XM_047436317.1:c.533G>C, NM_001353135.1:c.515G>C, NR_046396.1:n.671G>C, NR_046397.1:n.614G>C, XM_047436318.1:c.209G>C, XM_047436316.1:c.821G>C, NP_059993.2:p.Cys172Ser, NP_954590.1:p.Cys153Ser, NP_001340065.1:p.Cys112Ser, NP_001340063.1:p.Cys43Ser, NP_001340067.1:p.Cys75Ser, NP_001340066.1:p.Cys75Ser, NP_001340068.1:p.Cys121Ser, NP_001340069.1:p.Cys102Ser, XP_047292273.1:p.Cys178Ser, NP_001340064.1:p.Cys172Ser, XP_047292274.1:p.Cys70Ser, XP_047292272.1:p.Cys274Ser

Select item 14788522676.

rs1478852267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6770733 (GRCh38)
17:6674052 (GRCh37)
Canonical SPDI:: NC_000017.11:6770732:G:A
Gene:: XAF1 (Varview), LOC124903905 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6770733G>A, NC_000017.10:g.6674052G>A, NM_017523.5:c.598G>A, NM_017523.4:c.598G>A, NM_017523.3:c.598G>A, NM_199139.4:c.541G>A, NM_199139.3:c.541G>A, NM_199139.2:c.541G>A, NR_046398.3:n.378G>A, NR_046398.2:n.591G>A, NR_046398.1:n.587G>A, NM_001353136.2:c.418G>A, NM_001353136.1:c.418G>A, NM_001353134.2:c.211G>A, NM_001353134.1:c.211G>A, NM_001353138.2:c.307G>A, NM_001353138.1:c.307G>A, NM_001353137.2:c.307G>A, NM_001353137.1:c.307G>A, NM_001353139.2:c.445G>A, NM_001353139.1:c.445G>A, NM_001353140.2:c.388G>A, NM_001353140.1:c.388G>A, XM_047436317.1:c.616G>A, NM_001353135.1:c.598G>A, NR_046396.1:n.754G>A, NR_046397.1:n.697G>A, XM_047436318.1:c.292G>A, XM_047436316.1:c.904G>A, NP_059993.2:p.Glu200Lys, NP_954590.1:p.Glu181Lys, NP_001340065.1:p.Glu140Lys, NP_001340063.1:p.Glu71Lys, NP_001340067.1:p.Glu103Lys, NP_001340066.1:p.Glu103Lys, NP_001340068.1:p.Glu149Lys, NP_001340069.1:p.Glu130Lys, XP_047292273.1:p.Glu206Lys, NP_001340064.1:p.Glu200Lys, XP_047292274.1:p.Glu98Lys, XP_047292272.1:p.Glu302Lys

Select item 14775049127.

rs1477504912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:6762229 (GRCh38)
17:6665548 (GRCh37)
Canonical SPDI:: NC_000017.11:6762228:T:C,NC_000017.11:6762228:T:G
Gene:: XAF1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.6762229T>C, NC_000017.11:g.6762229T>G, NC_000017.10:g.6665548T>C, NC_000017.10:g.6665548T>G, NM_017523.5:c.496T>C, NM_017523.5:c.496T>G, NM_017523.4:c.496T>C, NM_017523.4:c.496T>G, NM_017523.3:c.496T>C, NM_017523.3:c.496T>G, NM_199139.4:c.439T>C, NM_199139.4:c.439T>G, NM_199139.3:c.439T>C, NM_199139.3:c.439T>G, NM_199139.2:c.439T>C, NM_199139.2:c.439T>G, NR_046398.3:n.276T>C, NR_046398.3:n.276T>G, NR_046398.2:n.489T>C, NR_046398.2:n.489T>G, NR_046398.1:n.485T>C, NR_046398.1:n.485T>G, NM_001353136.2:c.316T>C, NM_001353136.2:c.316T>G, NM_001353136.1:c.316T>C, NM_001353136.1:c.316T>G, NM_001353134.2:c.109T>C, NM_001353134.2:c.109T>G, NM_001353134.1:c.109T>C, NM_001353134.1:c.109T>G, NM_001353138.2:c.205T>C, NM_001353138.2:c.205T>G, NM_001353138.1:c.205T>C, NM_001353138.1:c.205T>G, NM_001353137.2:c.205T>C, NM_001353137.2:c.205T>G, NM_001353137.1:c.205T>C, NM_001353137.1:c.205T>G, XR_934053.2:n.895T>C, XR_934053.2:n.895T>G, XR_934053.1:n.1125T>C, XR_934053.1:n.1125T>G, XM_047436317.1:c.514T>C, XM_047436317.1:c.514T>G, NM_001353135.1:c.496T>C, NM_001353135.1:c.496T>G, XM_047436318.1:c.190T>C, XM_047436318.1:c.190T>G, XM_047436316.1:c.802T>C, XM_047436316.1:c.802T>G, XR_007065308.1:n.1047T>C, XR_007065308.1:n.1047T>G, XR_007065309.1:n.681T>C, XR_007065309.1:n.681T>G, XR_007065310.1:n.624T>C, XR_007065310.1:n.624T>G, NP_059993.2:p.Phe166Leu, NP_059993.2:p.Phe166Val, NP_954590.1:p.Phe147Leu, NP_954590.1:p.Phe147Val, NP_001340065.1:p.Phe106Leu, NP_001340065.1:p.Phe106Val, NP_001340063.1:p.Phe37Leu, NP_001340063.1:p.Phe37Val, NP_001340067.1:p.Phe69Leu, NP_001340067.1:p.Phe69Val, NP_001340066.1:p.Phe69Leu, NP_001340066.1:p.Phe69Val, XP_047292273.1:p.Phe172Leu, XP_047292273.1:p.Phe172Val, NP_001340064.1:p.Phe166Leu, NP_001340064.1:p.Phe166Val, XP_047292274.1:p.Phe64Leu, XP_047292274.1:p.Phe64Val, XP_047292272.1:p.Phe268Leu, XP_047292272.1:p.Phe268Val

Select item 14718456198.

rs1471845619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:6770823 (GRCh38)
17:6674142 (GRCh37)
Canonical SPDI:: NC_000017.11:6770822:A:G
Gene:: XAF1 (Varview), LOC124903905 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6770823A>G, NC_000017.10:g.6674142A>G, NM_017523.5:c.688A>G, NM_017523.4:c.688A>G, NM_017523.3:c.688A>G, NM_199139.4:c.631A>G, NM_199139.3:c.631A>G, NM_199139.2:c.631A>G, NR_046398.3:n.468A>G, NR_046398.2:n.681A>G, NR_046398.1:n.677A>G, NM_001353136.2:c.508A>G, NM_001353136.1:c.508A>G, NM_001353134.2:c.301A>G, NM_001353134.1:c.301A>G, NM_001353138.2:c.397A>G, NM_001353138.1:c.397A>G, NM_001353137.2:c.397A>G, NM_001353137.1:c.397A>G, NM_001353139.2:c.535A>G, NM_001353139.1:c.535A>G, NM_001353140.2:c.478A>G, NM_001353140.1:c.478A>G, XM_047436317.1:c.706A>G, NM_001353135.1:c.688A>G, NR_046396.1:n.844A>G, NR_046397.1:n.787A>G, XM_047436318.1:c.382A>G, XM_047436316.1:c.994A>G, NP_059993.2:p.Lys230Glu, NP_954590.1:p.Lys211Glu, NP_001340065.1:p.Lys170Glu, NP_001340063.1:p.Lys101Glu, NP_001340067.1:p.Lys133Glu, NP_001340066.1:p.Lys133Glu, NP_001340068.1:p.Lys179Glu, NP_001340069.1:p.Lys160Glu, XP_047292273.1:p.Lys236Glu, NP_001340064.1:p.Lys230Glu, XP_047292274.1:p.Lys128Glu, XP_047292272.1:p.Lys332Glu

Select item 14699259079.

rs1469925907 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:6758107 (GRCh38)
17:6661426 (GRCh37)
Canonical SPDI:: NC_000017.11:6758106:T:C
Gene:: XAF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6758107T>C, NC_000017.10:g.6661426T>C, NM_017523.5:c.51T>C, NM_017523.4:c.51T>C, NM_017523.3:c.51T>C, NM_199139.4:c.51T>C, NM_199139.3:c.51T>C, NM_199139.2:c.51T>C, NR_046398.3:n.84T>C, NR_046398.2:n.297T>C, NR_046398.1:n.293T>C, NM_001353136.2:c.-536T>C, NM_001353136.1:c.-536T>C, NM_001353134.2:c.-493T>C, NM_001353134.1:c.-493T>C, NM_001353138.2:c.-393T>C, NM_001353138.1:c.-393T>C, NM_001353137.2:c.-336T>C, NM_001353137.1:c.-336T>C, NM_001353139.2:c.-17T>C, NM_001353139.1:c.-17T>C, NM_001353140.2:c.-17T>C, NM_001353140.1:c.-17T>C, XM_047436317.1:c.-667T>C, NM_001353135.1:c.51T>C, NR_046396.1:n.293T>C, NR_046397.1:n.293T>C, XR_007065309.1:n.84T>C, XR_007065310.1:n.84T>C

Select item 146920819710.

rs1469208197 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:6760462 (GRCh38)
17:6663781 (GRCh37)
Canonical SPDI:: NC_000017.11:6760461:G:C
Gene:: XAF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6760462G>C, NC_000017.10:g.6663781G>C, NM_017523.5:c.282G>C, NM_017523.4:c.282G>C, NM_017523.3:c.282G>C, NM_199139.4:c.225G>C, NM_199139.3:c.225G>C, NM_199139.2:c.225G>C, NM_001353136.2:c.102G>C, NM_001353136.1:c.102G>C, NM_001353134.2:c.-262G>C, NM_001353134.1:c.-262G>C, NM_001353138.2:c.-162G>C, NM_001353138.1:c.-162G>C, NM_001353137.2:c.-162G>C, NM_001353137.1:c.-162G>C, NM_001353139.2:c.215G>C, NM_001353139.1:c.215G>C, NM_001353140.2:c.158G>C, NM_001353140.1:c.158G>C, XR_934053.2:n.681G>C, XR_934053.1:n.911G>C, XM_011523948.2:c.588G>C, XM_011523948.1:c.588G>C, XM_047436317.1:c.300G>C, NM_001353135.1:c.282G>C, NR_046396.1:n.524G>C, NR_046397.1:n.467G>C, XM_047436316.1:c.588G>C, XR_007065308.1:n.681G>C, XR_007065309.1:n.315G>C, XR_007065310.1:n.258G>C, NP_059993.2:p.Gln94His, NP_954590.1:p.Gln75His, NP_001340065.1:p.Gln34His, NP_001340068.1:p.Ser72Thr, NP_001340069.1:p.Ser53Thr, XP_011522250.1:p.Gln196His, XP_047292273.1:p.Gln100His, NP_001340064.1:p.Gln94His, XP_047292272.1:p.Gln196His

Select item 146723481311.

rs1467234813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6770678 (GRCh38)
17:6673997 (GRCh37)
Canonical SPDI:: NC_000017.11:6770677:C:T
Gene:: XAF1 (Varview), LOC124903905 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6770678C>T, NC_000017.10:g.6673997C>T, NM_017523.5:c.543C>T, NM_017523.4:c.543C>T, NM_017523.3:c.543C>T, NM_199139.4:c.486C>T, NM_199139.3:c.486C>T, NM_199139.2:c.486C>T, NR_046398.3:n.323C>T, NR_046398.2:n.536C>T, NR_046398.1:n.532C>T, NM_001353136.2:c.363C>T, NM_001353136.1:c.363C>T, NM_001353134.2:c.156C>T, NM_001353134.1:c.156C>T, NM_001353138.2:c.252C>T, NM_001353138.1:c.252C>T, NM_001353137.2:c.252C>T, NM_001353137.1:c.252C>T, NM_001353139.2:c.390C>T, NM_001353139.1:c.390C>T, NM_001353140.2:c.333C>T, NM_001353140.1:c.333C>T, XR_934053.2:n.1044C>T, XR_934053.1:n.1274C>T, XM_011523948.2:c.*31C>T, XM_011523948.1:c.*31C>T, XM_047436317.1:c.561C>T, NM_001353135.1:c.543C>T, NR_046396.1:n.699C>T, NR_046397.1:n.642C>T, XM_047436318.1:c.237C>T, XM_047436316.1:c.849C>T

Select item 146239660412.

rs1462396604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:6762208 (GRCh38)
17:6665527 (GRCh37)
Canonical SPDI:: NC_000017.11:6762207:A:G,NC_000017.11:6762207:A:T
Gene:: XAF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.6762208A>G, NC_000017.11:g.6762208A>T, NC_000017.10:g.6665527A>G, NC_000017.10:g.6665527A>T, NM_017523.5:c.475A>G, NM_017523.5:c.475A>T, NM_017523.4:c.475A>G, NM_017523.4:c.475A>T, NM_017523.3:c.475A>G, NM_017523.3:c.475A>T, NM_199139.4:c.418A>G, NM_199139.4:c.418A>T, NM_199139.3:c.418A>G, NM_199139.3:c.418A>T, NM_199139.2:c.418A>G, NM_199139.2:c.418A>T, NR_046398.3:n.255A>G, NR_046398.3:n.255A>T, NR_046398.2:n.468A>G, NR_046398.2:n.468A>T, NR_046398.1:n.464A>G, NR_046398.1:n.464A>T, NM_001353136.2:c.295A>G, NM_001353136.2:c.295A>T, NM_001353136.1:c.295A>G, NM_001353136.1:c.295A>T, NM_001353134.2:c.88A>G, NM_001353134.2:c.88A>T, NM_001353134.1:c.88A>G, NM_001353134.1:c.88A>T, NM_001353138.2:c.184A>G, NM_001353138.2:c.184A>T, NM_001353138.1:c.184A>G, NM_001353138.1:c.184A>T, NM_001353137.2:c.184A>G, NM_001353137.2:c.184A>T, NM_001353137.1:c.184A>G, NM_001353137.1:c.184A>T, XR_934053.2:n.874A>G, XR_934053.2:n.874A>T, XR_934053.1:n.1104A>G, XR_934053.1:n.1104A>T, XM_047436317.1:c.493A>G, XM_047436317.1:c.493A>T, NM_001353135.1:c.475A>G, NM_001353135.1:c.475A>T, XM_047436318.1:c.169A>G, XM_047436318.1:c.169A>T, XM_047436316.1:c.781A>G, XM_047436316.1:c.781A>T, XR_007065308.1:n.1026A>G, XR_007065308.1:n.1026A>T, XR_007065309.1:n.660A>G, XR_007065309.1:n.660A>T, XR_007065310.1:n.603A>G, XR_007065310.1:n.603A>T, NP_059993.2:p.Met159Val, NP_059993.2:p.Met159Leu, NP_954590.1:p.Met140Val, NP_954590.1:p.Met140Leu, NP_001340065.1:p.Met99Val, NP_001340065.1:p.Met99Leu, NP_001340063.1:p.Met30Val, NP_001340063.1:p.Met30Leu, NP_001340067.1:p.Met62Val, NP_001340067.1:p.Met62Leu, NP_001340066.1:p.Met62Val, NP_001340066.1:p.Met62Leu, XP_047292273.1:p.Met165Val, XP_047292273.1:p.Met165Leu, NP_001340064.1:p.Met159Val, NP_001340064.1:p.Met159Leu, XP_047292274.1:p.Met57Val, XP_047292274.1:p.Met57Leu, XP_047292272.1:p.Met261Val, XP_047292272.1:p.Met261Leu

Select item 146158275713.

rs1461582757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6758194 (GRCh38)
17:6661513 (GRCh37)
Canonical SPDI:: NC_000017.11:6758193:G:A
Gene:: XAF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,stop_gained,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6758194G>A, NC_000017.10:g.6661513G>A, NM_017523.5:c.138G>A, NM_017523.4:c.138G>A, NM_017523.3:c.138G>A, NM_199139.4:c.138G>A, NM_199139.3:c.138G>A, NM_199139.2:c.138G>A, NR_046398.3:n.171G>A, NR_046398.2:n.384G>A, NR_046398.1:n.380G>A, NM_001353136.2:c.-449G>A, NM_001353136.1:c.-449G>A, NM_001353134.2:c.-406G>A, NM_001353134.1:c.-406G>A, NM_001353138.2:c.-306G>A, NM_001353138.1:c.-306G>A, NM_001353137.2:c.-249G>A, NM_001353137.1:c.-249G>A, NM_001353139.2:c.71G>A, NM_001353139.1:c.71G>A, NM_001353140.2:c.71G>A, NM_001353140.1:c.71G>A, XM_047436317.1:c.-580G>A, NM_001353135.1:c.138G>A, NR_046396.1:n.380G>A, NR_046397.1:n.380G>A, XR_007065309.1:n.171G>A, XR_007065310.1:n.171G>A, NP_059993.2:p.Met46Ile, NP_954590.1:p.Met46Ile, NP_001340068.1:p.Trp24Ter, NP_001340069.1:p.Trp24Ter, NP_001340064.1:p.Met46Ile

Select item 146124372014.

rs1461243720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6770843 (GRCh38)
17:6674162 (GRCh37)
Canonical SPDI:: NC_000017.11:6770842:C:T
Gene:: XAF1 (Varview), LOC124903905 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.6770843C>T, NC_000017.10:g.6674162C>T, NM_017523.5:c.708C>T, NM_017523.4:c.708C>T, NM_017523.3:c.708C>T, NM_199139.4:c.651C>T, NM_199139.3:c.651C>T, NM_199139.2:c.651C>T, NR_046398.3:n.488C>T, NR_046398.2:n.701C>T, NR_046398.1:n.697C>T, NM_001353136.2:c.528C>T, NM_001353136.1:c.528C>T, NM_001353134.2:c.321C>T, NM_001353134.1:c.321C>T, NM_001353138.2:c.417C>T, NM_001353138.1:c.417C>T, NM_001353137.2:c.417C>T, NM_001353137.1:c.417C>T, NM_001353139.2:c.555C>T, NM_001353139.1:c.555C>T, NM_001353140.2:c.498C>T, NM_001353140.1:c.498C>T, XM_047436317.1:c.726C>T, NM_001353135.1:c.708C>T, NR_046396.1:n.864C>T, NR_046397.1:n.807C>T, XM_047436318.1:c.402C>T, XM_047436316.1:c.1014C>T

Select item 145993280815.

rs1459932808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:6760565 (GRCh38)
17:6663884 (GRCh37)
Canonical SPDI:: NC_000017.11:6760564:G:A,NC_000017.11:6760564:G:C
Gene:: XAF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.6760565G>A, NC_000017.11:g.6760565G>C, NC_000017.10:g.6663884G>A, NC_000017.10:g.6663884G>C, NM_017523.5:c.385G>A, NM_017523.5:c.385G>C, NM_017523.4:c.385G>A, NM_017523.4:c.385G>C, NM_017523.3:c.385G>A, NM_017523.3:c.385G>C, NM_199139.4:c.328G>A, NM_199139.4:c.328G>C, NM_199139.3:c.328G>A, NM_199139.3:c.328G>C, NM_199139.2:c.328G>A, NM_199139.2:c.328G>C, NM_001353136.2:c.205G>A, NM_001353136.2:c.205G>C, NM_001353136.1:c.205G>A, NM_001353136.1:c.205G>C, NM_001353134.2:c.-159G>A, NM_001353134.2:c.-159G>C, NM_001353134.1:c.-159G>A, NM_001353134.1:c.-159G>C, NM_001353138.2:c.-59G>A, NM_001353138.2:c.-59G>C, NM_001353138.1:c.-59G>A, NM_001353138.1:c.-59G>C, NM_001353137.2:c.-59G>A, NM_001353137.2:c.-59G>C, NM_001353137.1:c.-59G>A, NM_001353137.1:c.-59G>C, NM_001353139.2:c.318G>A, NM_001353139.2:c.318G>C, NM_001353139.1:c.318G>A, NM_001353139.1:c.318G>C, NM_001353140.2:c.261G>A, NM_001353140.2:c.261G>C, NM_001353140.1:c.261G>A, NM_001353140.1:c.261G>C, XR_934053.2:n.784G>A, XR_934053.2:n.784G>C, XR_934053.1:n.1014G>A, XR_934053.1:n.1014G>C, XM_011523948.2:c.691G>A, XM_011523948.2:c.691G>C, XM_011523948.1:c.691G>A, XM_011523948.1:c.691G>C, XM_047436317.1:c.403G>A, XM_047436317.1:c.403G>C, NM_001353135.1:c.385G>A, NM_001353135.1:c.385G>C, NR_046396.1:n.627G>A, NR_046396.1:n.627G>C, NR_046397.1:n.570G>A, NR_046397.1:n.570G>C, XM_047436318.1:c.-59G>A, XM_047436318.1:c.-59G>C, XM_047436316.1:c.691G>A, XM_047436316.1:c.691G>C, XR_007065308.1:n.784G>A, XR_007065308.1:n.784G>C, XR_007065309.1:n.418G>A, XR_007065309.1:n.418G>C, XR_007065310.1:n.361G>A, XR_007065310.1:n.361G>C, NP_059993.2:p.Asp129Asn, NP_059993.2:p.Asp129His, NP_954590.1:p.Asp110Asn, NP_954590.1:p.Asp110His, NP_001340065.1:p.Asp69Asn, NP_001340065.1:p.Asp69His, NP_001340068.1:p.Glu106Asp, NP_001340069.1:p.Glu87Asp, XP_011522250.1:p.Asp231Asn, XP_011522250.1:p.Asp231His, XP_047292273.1:p.Asp135Asn, XP_047292273.1:p.Asp135His, NP_001340064.1:p.Asp129Asn, NP_001340064.1:p.Asp129His, XP_047292272.1:p.Asp231Asn, XP_047292272.1:p.Asp231His

Select item 145870113216.

rs1458701132 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:6770661 (GRCh38)
17:6673980 (GRCh37)
Canonical SPDI:: NC_000017.11:6770660:T:G
Gene:: XAF1 (Varview), LOC124903905 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.6770661T>G, NC_000017.10:g.6673980T>G, NM_017523.5:c.526T>G, NM_017523.4:c.526T>G, NM_017523.3:c.526T>G, NM_199139.4:c.469T>G, NM_199139.3:c.469T>G, NM_199139.2:c.469T>G, NR_046398.3:n.306T>G, NR_046398.2:n.519T>G, NR_046398.1:n.515T>G, NM_001353136.2:c.346T>G, NM_001353136.1:c.346T>G, NM_001353134.2:c.139T>G, NM_001353134.1:c.139T>G, NM_001353138.2:c.235T>G, NM_001353138.1:c.235T>G, NM_001353137.2:c.235T>G, NM_001353137.1:c.235T>G, NM_001353139.2:c.373T>G, NM_001353139.1:c.373T>G, NM_001353140.2:c.316T>G, NM_001353140.1:c.316T>G, XR_934053.2:n.1027T>G, XR_934053.1:n.1257T>G, XM_011523948.2:c.*14T>G, XM_011523948.1:c.*14T>G, XM_047436317.1:c.544T>G, NM_001353135.1:c.526T>G, NR_046396.1:n.682T>G, NR_046397.1:n.625T>G, XM_047436318.1:c.220T>G, XM_047436316.1:c.832T>G, NP_059993.2:p.Ser176Ala, NP_954590.1:p.Ser157Ala, NP_001340065.1:p.Ser116Ala, NP_001340063.1:p.Ser47Ala, NP_001340067.1:p.Ser79Ala, NP_001340066.1:p.Ser79Ala, NP_001340068.1:p.Ser125Ala, NP_001340069.1:p.Ser106Ala, XP_047292273.1:p.Ser182Ala, NP_001340064.1:p.Ser176Ala, XP_047292274.1:p.Ser74Ala, XP_047292272.1:p.Ser278Ala

Select item 145717636517.

rs1457176365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:6770806 (GRCh38)
17:6674125 (GRCh37)
Canonical SPDI:: NC_000017.11:6770805:C:A
Gene:: XAF1 (Varview), LOC124903905 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6770806C>A, NC_000017.10:g.6674125C>A, NM_017523.5:c.671C>A, NM_017523.4:c.671C>A, NM_017523.3:c.671C>A, NM_199139.4:c.614C>A, NM_199139.3:c.614C>A, NM_199139.2:c.614C>A, NR_046398.3:n.451C>A, NR_046398.2:n.664C>A, NR_046398.1:n.660C>A, NM_001353136.2:c.491C>A, NM_001353136.1:c.491C>A, NM_001353134.2:c.284C>A, NM_001353134.1:c.284C>A, NM_001353138.2:c.380C>A, NM_001353138.1:c.380C>A, NM_001353137.2:c.380C>A, NM_001353137.1:c.380C>A, NM_001353139.2:c.518C>A, NM_001353139.1:c.518C>A, NM_001353140.2:c.461C>A, NM_001353140.1:c.461C>A, XM_047436317.1:c.689C>A, NM_001353135.1:c.671C>A, NR_046396.1:n.827C>A, NR_046397.1:n.770C>A, XM_047436318.1:c.365C>A, XM_047436316.1:c.977C>A, NP_059993.2:p.Ser224Tyr, NP_954590.1:p.Ser205Tyr, NP_001340065.1:p.Ser164Tyr, NP_001340063.1:p.Ser95Tyr, NP_001340067.1:p.Ser127Tyr, NP_001340066.1:p.Ser127Tyr, NP_001340068.1:p.Ser173Tyr, NP_001340069.1:p.Ser154Tyr, XP_047292273.1:p.Ser230Tyr, NP_001340064.1:p.Ser224Tyr, XP_047292274.1:p.Ser122Tyr, XP_047292272.1:p.Ser326Tyr

Select item 144957530618.

rs1449575306 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:6770861 (GRCh38)
17:6674180 (GRCh37)
Canonical SPDI:: NC_000017.11:6770860:T:A
Gene:: XAF1 (Varview), LOC124903905 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6770861T>A, NC_000017.10:g.6674180T>A, NM_017523.5:c.726T>A, NM_017523.4:c.726T>A, NM_017523.3:c.726T>A, NM_199139.4:c.669T>A, NM_199139.3:c.669T>A, NM_199139.2:c.669T>A, NR_046398.3:n.506T>A, NR_046398.2:n.719T>A, NR_046398.1:n.715T>A, NM_001353136.2:c.546T>A, NM_001353136.1:c.546T>A, NM_001353134.2:c.339T>A, NM_001353134.1:c.339T>A, NM_001353138.2:c.435T>A, NM_001353138.1:c.435T>A, NM_001353137.2:c.435T>A, NM_001353137.1:c.435T>A, NM_001353139.2:c.573T>A, NM_001353139.1:c.573T>A, NM_001353140.2:c.516T>A, NM_001353140.1:c.516T>A, XM_047436317.1:c.744T>A, NM_001353135.1:c.726T>A, NR_046396.1:n.882T>A, NR_046397.1:n.825T>A, XM_047436318.1:c.420T>A, XM_047436316.1:c.1032T>A

Select item 144068555919.

rs1440685559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:6770923 (GRCh38)
17:6674242 (GRCh37)
Canonical SPDI:: NC_000017.11:6770922:T:C
Gene:: XAF1 (Varview), LOC124903905 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.6770923T>C, NC_000017.10:g.6674242T>C, NM_017523.5:c.788T>C, NM_017523.4:c.788T>C, NM_017523.3:c.788T>C, NM_199139.4:c.731T>C, NM_199139.3:c.731T>C, NM_199139.2:c.731T>C, NR_046398.3:n.568T>C, NR_046398.2:n.781T>C, NR_046398.1:n.777T>C, NM_001353136.2:c.608T>C, NM_001353136.1:c.608T>C, NM_001353134.2:c.401T>C, NM_001353134.1:c.401T>C, NM_001353138.2:c.497T>C, NM_001353138.1:c.497T>C, NM_001353137.2:c.497T>C, NM_001353137.1:c.497T>C, NM_001353139.2:c.635T>C, NM_001353139.1:c.635T>C, NM_001353140.2:c.578T>C, NM_001353140.1:c.578T>C, XM_047436317.1:c.806T>C, NM_001353135.1:c.788T>C, NR_046396.1:n.944T>C, NR_046397.1:n.887T>C, XM_047436318.1:c.482T>C, XM_047436316.1:c.1094T>C, NP_059993.2:p.Ile263Thr, NP_954590.1:p.Ile244Thr, NP_001340065.1:p.Ile203Thr, NP_001340063.1:p.Ile134Thr, NP_001340067.1:p.Ile166Thr, NP_001340066.1:p.Ile166Thr, NP_001340068.1:p.Ile212Thr, NP_001340069.1:p.Ile193Thr, XP_047292273.1:p.Ile269Thr, NP_001340064.1:p.Ile263Thr, XP_047292274.1:p.Ile161Thr, XP_047292272.1:p.Ile365Thr

Select item 143707760120.

rs1437077601 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:6756108 (GRCh38)
17:6659427 (GRCh37)
Canonical SPDI:: NC_000017.11:6756107:C:
Gene:: XAF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,frameshift_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6756108del, NC_000017.10:g.6659427del, NM_017523.5:c.30del, NM_017523.4:c.30del, NM_017523.3:c.30del, NM_199139.4:c.30del, NM_199139.3:c.30del, NM_199139.2:c.30del, NR_046398.3:n.63del, NR_046398.2:n.276del, NR_046398.1:n.272del, NM_001353136.2:c.-557del, NM_001353136.1:c.-557del, NM_001353134.2:c.-514del, NM_001353134.1:c.-514del, NM_001353138.2:c.-414del, NM_001353138.1:c.-414del, NM_001353137.2:c.-357del, NM_001353137.1:c.-357del, NM_001353139.2:c.-38del, NM_001353139.1:c.-38del, NM_001353140.2:c.-38del, NM_001353140.1:c.-38del, NM_001353135.1:c.30del, NR_046396.1:n.272del, NR_046397.1:n.272del, XR_007065309.1:n.63del, XR_007065310.1:n.63del, NP_059993.2:p.Cys11fs, NP_954590.1:p.Cys11fs, NP_001340064.1:p.Cys11fs

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