SNP Links for Protein (Select 397739047) - SNP

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Links from Protein

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Select item 14886033381.

rs1488603338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:4182132 (GRCh38)
20:4162779 (GRCh37)
Canonical SPDI:: NC_000020.11:4182131:C:T
Gene:: SMOX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.4182132C>T, NC_000020.10:g.4162779C>T, XM_011529261.3:c.653C>T, XM_011529261.2:c.653C>T, XM_011529261.1:c.653C>T, NM_175839.3:c.653C>T, NM_175839.2:c.653C>T, NM_175842.3:c.653C>T, NM_175842.2:c.653C>T, NM_175840.3:c.653C>T, NM_175840.2:c.653C>T, NM_001270691.2:c.653C>T, NM_001270691.1:c.653C>T, NM_019025.2:c.653C>T, XM_047440218.1:c.653C>T, XM_047440219.1:c.653C>T, NM_019025.1:c.653C>T, XM_047440217.1:c.653C>T, XM_047440222.1:c.653C>T, XM_047440220.1:c.653C>T, XM_047440221.1:c.653C>T, XM_047440223.1:c.653C>T, XP_011527563.1:p.Ser218Phe, NP_787033.1:p.Ser218Phe, NP_787036.1:p.Ser218Phe, NP_787034.1:p.Ser218Phe, NP_001257620.1:p.Ser218Phe, XP_047296174.1:p.Ser218Phe, XP_047296175.1:p.Ser218Phe, XP_047296173.1:p.Ser218Phe, XP_047296178.1:p.Ser218Phe, XP_047296176.1:p.Ser218Phe, XP_047296177.1:p.Ser218Phe, XP_047296179.1:p.Ser218Phe

Select item 14879045682.

rs1487904568 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:4177406 (GRCh38)
20:4158053 (GRCh37)
Canonical SPDI:: NC_000020.11:4177405:T:A
Gene:: SMOX (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.4177406T>A, NC_000020.10:g.4158053T>A, XM_011529261.3:c.264T>A, XM_011529261.2:c.264T>A, XM_011529261.1:c.264T>A, NM_175839.3:c.264T>A, NM_175839.2:c.264T>A, NM_175842.3:c.264T>A, NM_175842.2:c.264T>A, NM_175840.3:c.264T>A, NM_175840.2:c.264T>A, NM_175841.3:c.264T>A, NM_175841.2:c.264T>A, NM_001270691.2:c.264T>A, NM_001270691.1:c.264T>A, NM_019025.2:c.264T>A, XM_047440218.1:c.264T>A, XM_047440219.1:c.264T>A, NM_019025.1:c.264T>A, XM_047440217.1:c.264T>A, XM_047440222.1:c.264T>A, XM_047440220.1:c.264T>A, XM_047440221.1:c.264T>A, XM_047440223.1:c.264T>A

Select item 14863568423.

rs1486356842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:4187379 (GRCh38)
20:4168026 (GRCh37)
Canonical SPDI:: NC_000020.11:4187378:A:G
Gene:: SMOX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000020.11:g.4187379A>G, NC_000020.10:g.4168026A>G, XM_011529261.3:c.1730A>G, XM_011529261.2:c.1730A>G, XM_011529261.1:c.1730A>G, NM_175839.3:c.1640A>G, NM_175839.2:c.1640A>G, NM_175842.3:c.1571A>G, NM_175842.2:c.1571A>G, NM_175840.3:c.1481A>G, NM_175840.2:c.1481A>G, NM_175841.3:c.545A>G, NM_175841.2:c.545A>G, NM_001270691.2:c.1730A>G, NM_001270691.1:c.1730A>G, NM_019025.2:c.1640A>G, XM_047440218.1:c.1730A>G, XM_047440219.1:c.1730A>G, NM_019025.1:c.1640A>G, XM_047440217.1:c.1730A>G, XM_047440222.1:c.1481A>G, XM_047440220.1:c.1640A>G, XM_047440221.1:c.1481A>G, XM_047440223.1:c.1481A>G, XP_011527563.1:p.Tyr577Cys, NP_787033.1:p.Tyr547Cys, NP_787036.1:p.Tyr524Cys, NP_787034.1:p.Tyr494Cys, NP_787035.1:p.Tyr182Cys, NP_001257620.1:p.Tyr577Cys, XP_047296174.1:p.Tyr577Cys, XP_047296175.1:p.Tyr577Cys, XP_047296173.1:p.Tyr577Cys, XP_047296178.1:p.Tyr494Cys, XP_047296176.1:p.Tyr547Cys, XP_047296177.1:p.Tyr494Cys, XP_047296179.1:p.Tyr494Cys

Select item 14852615034.

rs1485261503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:4182201 (GRCh38)
20:4162848 (GRCh37)
Canonical SPDI:: NC_000020.11:4182200:G:A
Gene:: SMOX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.4182201G>A, NC_000020.10:g.4162848G>A, XM_011529261.3:c.722G>A, XM_011529261.2:c.722G>A, XM_011529261.1:c.722G>A, NM_175839.3:c.722G>A, NM_175839.2:c.722G>A, NM_175842.3:c.722G>A, NM_175842.2:c.722G>A, NM_175840.3:c.722G>A, NM_175840.2:c.722G>A, NM_001270691.2:c.722G>A, NM_001270691.1:c.722G>A, NM_019025.2:c.722G>A, XM_047440218.1:c.722G>A, XM_047440219.1:c.722G>A, NM_019025.1:c.722G>A, XM_047440217.1:c.722G>A, XM_047440222.1:c.722G>A, XM_047440220.1:c.722G>A, XM_047440221.1:c.722G>A, XM_047440223.1:c.722G>A, XP_011527563.1:p.Arg241Gln, NP_787033.1:p.Arg241Gln, NP_787036.1:p.Arg241Gln, NP_787034.1:p.Arg241Gln, NP_001257620.1:p.Arg241Gln, XP_047296174.1:p.Arg241Gln, XP_047296175.1:p.Arg241Gln, XP_047296173.1:p.Arg241Gln, XP_047296178.1:p.Arg241Gln, XP_047296176.1:p.Arg241Gln, XP_047296177.1:p.Arg241Gln, XP_047296179.1:p.Arg241Gln

Select item 14818461995.

rs1481846199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:4175080 (GRCh38)
20:4155727 (GRCh37)
Canonical SPDI:: NC_000020.11:4175079:G:C
Gene:: SMOX (Varview)
Functional Consequence:: coding_sequence_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_000020.11:g.4175080G>C, NC_000020.10:g.4155727G>C, XM_011529261.3:c.25G>C, XM_011529261.2:c.25G>C, XM_011529261.1:c.25G>C, NM_175839.3:c.25G>C, NM_175839.2:c.25G>C, NM_175842.3:c.25G>C, NM_175842.2:c.25G>C, NM_175840.3:c.25G>C, NM_175840.2:c.25G>C, NM_175841.3:c.25G>C, NM_175841.2:c.25G>C, NM_001270691.2:c.25G>C, NM_001270691.1:c.25G>C, NM_019025.2:c.25G>C, XM_047440218.1:c.25G>C, XM_047440219.1:c.25G>C, NM_019025.1:c.25G>C, XM_047440217.1:c.25G>C, XM_047440222.1:c.25G>C, XM_047440220.1:c.25G>C, XM_047440221.1:c.25G>C, XM_047440223.1:c.25G>C, XP_011527563.1:p.Asp9His, NP_787033.1:p.Asp9His, NP_787036.1:p.Asp9His, NP_787034.1:p.Asp9His, NP_787035.1:p.Asp9His, NP_001257620.1:p.Asp9His, XP_047296174.1:p.Asp9His, XP_047296175.1:p.Asp9His, XP_047296173.1:p.Asp9His, XP_047296178.1:p.Asp9His, XP_047296176.1:p.Asp9His, XP_047296177.1:p.Asp9His, XP_047296179.1:p.Asp9His

Select item 14780822846.

rs1478082284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:4175245 (GRCh38)
20:4155892 (GRCh37)
Canonical SPDI:: NC_000020.11:4175244:G:A
Gene:: SMOX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.4175245G>A, NC_000020.10:g.4155892G>A, XM_011529261.3:c.190G>A, XM_011529261.2:c.190G>A, XM_011529261.1:c.190G>A, NM_175839.3:c.190G>A, NM_175839.2:c.190G>A, NM_175842.3:c.190G>A, NM_175842.2:c.190G>A, NM_175840.3:c.190G>A, NM_175840.2:c.190G>A, NM_175841.3:c.190G>A, NM_175841.2:c.190G>A, NM_001270691.2:c.190G>A, NM_001270691.1:c.190G>A, NM_019025.2:c.190G>A, XM_047440218.1:c.190G>A, XM_047440219.1:c.190G>A, NM_019025.1:c.190G>A, XM_047440217.1:c.190G>A, XM_047440222.1:c.190G>A, XM_047440220.1:c.190G>A, XM_047440221.1:c.190G>A, XM_047440223.1:c.190G>A, XP_011527563.1:p.Val64Met, NP_787033.1:p.Val64Met, NP_787036.1:p.Val64Met, NP_787034.1:p.Val64Met, NP_787035.1:p.Val64Met, NP_001257620.1:p.Val64Met, XP_047296174.1:p.Val64Met, XP_047296175.1:p.Val64Met, XP_047296173.1:p.Val64Met, XP_047296178.1:p.Val64Met, XP_047296176.1:p.Val64Met, XP_047296177.1:p.Val64Met, XP_047296179.1:p.Val64Met

Select item 14758934817.

rs1475893481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:4182744 (GRCh38)
20:4163391 (GRCh37)
Canonical SPDI:: NC_000020.11:4182743:A:G
Gene:: SMOX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.4182744A>G, NC_000020.10:g.4163391A>G, XM_011529261.3:c.1265A>G, XM_011529261.2:c.1265A>G, XM_011529261.1:c.1265A>G, NM_175839.3:c.1265A>G, NM_175839.2:c.1265A>G, NM_175842.3:c.1106A>G, NM_175842.2:c.1106A>G, NM_175840.3:c.1106A>G, NM_175840.2:c.1106A>G, NM_001270691.2:c.1265A>G, NM_001270691.1:c.1265A>G, NM_019025.2:c.1265A>G, XM_047440218.1:c.1265A>G, XM_047440219.1:c.1265A>G, NM_019025.1:c.1265A>G, XM_047440217.1:c.1265A>G, XM_047440222.1:c.1106A>G, XM_047440220.1:c.1265A>G, XM_047440221.1:c.1106A>G, XM_047440223.1:c.1106A>G, XP_011527563.1:p.His422Arg, NP_787033.1:p.His422Arg, NP_787036.1:p.His369Arg, NP_787034.1:p.His369Arg, NP_001257620.1:p.His422Arg, XP_047296174.1:p.His422Arg, XP_047296175.1:p.His422Arg, XP_047296173.1:p.His422Arg, XP_047296178.1:p.His369Arg, XP_047296176.1:p.His422Arg, XP_047296177.1:p.His369Arg, XP_047296179.1:p.His369Arg

Select item 14743109278.

rs1474310927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:4183654 (GRCh38)
20:4164301 (GRCh37)
Canonical SPDI:: NC_000020.11:4183653:G:A
Gene:: SMOX (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.4183654G>A, NC_000020.10:g.4164301G>A, XM_011529261.3:c.1530G>A, XM_011529261.2:c.1530G>A, XM_011529261.1:c.1530G>A, NM_175839.3:c.1530G>A, NM_175839.2:c.1530G>A, NM_175842.3:c.1371G>A, NM_175842.2:c.1371G>A, NM_175840.3:c.1371G>A, NM_175840.2:c.1371G>A, NM_001270691.2:c.1530G>A, NM_001270691.1:c.1530G>A, NM_019025.2:c.1530G>A, XM_047440218.1:c.1530G>A, XM_047440219.1:c.1530G>A, NM_019025.1:c.1530G>A, XM_047440217.1:c.1530G>A, XM_047440222.1:c.1371G>A, XM_047440220.1:c.1530G>A, XM_047440221.1:c.1371G>A, XM_047440223.1:c.1371G>A

Select item 14733011259.

rs1473301125 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:4182626 (GRCh38)
20:4163273 (GRCh37)
Canonical SPDI:: NC_000020.11:4182625:A:G
Gene:: SMOX (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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_000020.11:g.4182626A>G, NC_000020.10:g.4163273A>G, XM_011529261.3:c.1147A>G, XM_011529261.2:c.1147A>G, XM_011529261.1:c.1147A>G, NM_175839.3:c.1147A>G, NM_175839.2:c.1147A>G, NM_175842.3:c.988A>G, NM_175842.2:c.988A>G, NM_175840.3:c.988A>G, NM_175840.2:c.988A>G, NM_001270691.2:c.1147A>G, NM_001270691.1:c.1147A>G, NM_019025.2:c.1147A>G, XM_047440218.1:c.1147A>G, XM_047440219.1:c.1147A>G, NM_019025.1:c.1147A>G, XM_047440217.1:c.1147A>G, XM_047440222.1:c.988A>G, XM_047440220.1:c.1147A>G, XM_047440221.1:c.988A>G, XM_047440223.1:c.988A>G, XP_011527563.1:p.Ser383Gly, NP_787033.1:p.Ser383Gly, NP_787036.1:p.Ser330Gly, NP_787034.1:p.Ser330Gly, NP_001257620.1:p.Ser383Gly, XP_047296174.1:p.Ser383Gly, XP_047296175.1:p.Ser383Gly, XP_047296173.1:p.Ser383Gly, XP_047296178.1:p.Ser330Gly, XP_047296176.1:p.Ser383Gly, XP_047296177.1:p.Ser330Gly, XP_047296179.1:p.Ser330Gly

Select item 147002765110.

rs1470027651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:4182369 (GRCh38)
20:4163016 (GRCh37)
Canonical SPDI:: NC_000020.11:4182368:G:A
Gene:: SMOX (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.4182369G>A, NC_000020.10:g.4163016G>A, XM_011529261.3:c.890G>A, XM_011529261.2:c.890G>A, XM_011529261.1:c.890G>A, NM_175839.3:c.890G>A, NM_175839.2:c.890G>A, NM_001270691.2:c.890G>A, NM_001270691.1:c.890G>A, NM_019025.2:c.890G>A, XM_047440218.1:c.890G>A, XM_047440219.1:c.890G>A, NM_019025.1:c.890G>A, XM_047440217.1:c.890G>A, XM_047440220.1:c.890G>A, XP_011527563.1:p.Gly297Glu, NP_787033.1:p.Gly297Glu, NP_001257620.1:p.Gly297Glu, XP_047296174.1:p.Gly297Glu, XP_047296175.1:p.Gly297Glu, XP_047296173.1:p.Gly297Glu, XP_047296176.1:p.Gly297Glu

Select item 146994853511.

rs1469948535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:4177498 (GRCh38)
20:4158145 (GRCh37)
Canonical SPDI:: NC_000020.11:4177497:G:A
Gene:: SMOX (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.4177498G>A, NC_000020.10:g.4158145G>A, XM_011529261.3:c.356G>A, XM_011529261.2:c.356G>A, XM_011529261.1:c.356G>A, NM_175839.3:c.356G>A, NM_175839.2:c.356G>A, NM_175842.3:c.356G>A, NM_175842.2:c.356G>A, NM_175840.3:c.356G>A, NM_175840.2:c.356G>A, NM_175841.3:c.356G>A, NM_175841.2:c.356G>A, NM_001270691.2:c.356G>A, NM_001270691.1:c.356G>A, NM_019025.2:c.356G>A, XM_047440218.1:c.356G>A, XM_047440219.1:c.356G>A, NM_019025.1:c.356G>A, XM_047440217.1:c.356G>A, XM_047440222.1:c.356G>A, XM_047440220.1:c.356G>A, XM_047440221.1:c.356G>A, XM_047440223.1:c.356G>A, XP_011527563.1:p.Gly119Asp, NP_787033.1:p.Gly119Asp, NP_787036.1:p.Gly119Asp, NP_787034.1:p.Gly119Asp, NP_787035.1:p.Gly119Asp, NP_001257620.1:p.Gly119Asp, XP_047296174.1:p.Gly119Asp, XP_047296175.1:p.Gly119Asp, XP_047296173.1:p.Gly119Asp, XP_047296178.1:p.Gly119Asp, XP_047296176.1:p.Gly119Asp, XP_047296177.1:p.Gly119Asp, XP_047296179.1:p.Gly119Asp

Select item 146824331512.

rs1468243315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:4182733 (GRCh38)
20:4163380 (GRCh37)
Canonical SPDI:: NC_000020.11:4182732:G:T
Gene:: SMOX (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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_000020.11:g.4182733G>T, NC_000020.10:g.4163380G>T, XM_011529261.3:c.1254G>T, XM_011529261.2:c.1254G>T, XM_011529261.1:c.1254G>T, NM_175839.3:c.1254G>T, NM_175839.2:c.1254G>T, NM_175842.3:c.1095G>T, NM_175842.2:c.1095G>T, NM_175840.3:c.1095G>T, NM_175840.2:c.1095G>T, NM_001270691.2:c.1254G>T, NM_001270691.1:c.1254G>T, NM_019025.2:c.1254G>T, XM_047440218.1:c.1254G>T, XM_047440219.1:c.1254G>T, NM_019025.1:c.1254G>T, XM_047440217.1:c.1254G>T, XM_047440222.1:c.1095G>T, XM_047440220.1:c.1254G>T, XM_047440221.1:c.1095G>T, XM_047440223.1:c.1095G>T, XP_011527563.1:p.Glu418Asp, NP_787033.1:p.Glu418Asp, NP_787036.1:p.Glu365Asp, NP_787034.1:p.Glu365Asp, NP_001257620.1:p.Glu418Asp, XP_047296174.1:p.Glu418Asp, XP_047296175.1:p.Glu418Asp, XP_047296173.1:p.Glu418Asp, XP_047296178.1:p.Glu365Asp, XP_047296176.1:p.Glu418Asp, XP_047296177.1:p.Glu365Asp, XP_047296179.1:p.Glu365Asp

Select item 146817040013.

rs1468170400 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:4181935 (GRCh38)
20:4162582 (GRCh37)
Canonical SPDI:: NC_000020.11:4181934:A:G
Gene:: SMOX (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.4181935A>G, NC_000020.10:g.4162582A>G, XM_011529261.3:c.568A>G, XM_011529261.2:c.568A>G, XM_011529261.1:c.568A>G, NM_175839.3:c.568A>G, NM_175839.2:c.568A>G, NM_175842.3:c.568A>G, NM_175842.2:c.568A>G, NM_175840.3:c.568A>G, NM_175840.2:c.568A>G, NM_001270691.2:c.568A>G, NM_001270691.1:c.568A>G, NM_019025.2:c.568A>G, XM_047440218.1:c.568A>G, XM_047440219.1:c.568A>G, NM_019025.1:c.568A>G, XM_047440217.1:c.568A>G, XM_047440222.1:c.568A>G, XM_047440220.1:c.568A>G, XM_047440221.1:c.568A>G, XM_047440223.1:c.568A>G, XP_011527563.1:p.Thr190Ala, NP_787033.1:p.Thr190Ala, NP_787036.1:p.Thr190Ala, NP_787034.1:p.Thr190Ala, NP_001257620.1:p.Thr190Ala, XP_047296174.1:p.Thr190Ala, XP_047296175.1:p.Thr190Ala, XP_047296173.1:p.Thr190Ala, XP_047296178.1:p.Thr190Ala, XP_047296176.1:p.Thr190Ala, XP_047296177.1:p.Thr190Ala, XP_047296179.1:p.Thr190Ala

Select item 146733357114.

rs1467333571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:4177514 (GRCh38)
20:4158161 (GRCh37)
Canonical SPDI:: NC_000020.11:4177513:T:C
Gene:: SMOX (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.4177514T>C, NC_000020.10:g.4158161T>C, XM_011529261.3:c.372T>C, XM_011529261.2:c.372T>C, XM_011529261.1:c.372T>C, NM_175839.3:c.372T>C, NM_175839.2:c.372T>C, NM_175842.3:c.372T>C, NM_175842.2:c.372T>C, NM_175840.3:c.372T>C, NM_175840.2:c.372T>C, NM_175841.3:c.372T>C, NM_175841.2:c.372T>C, NM_001270691.2:c.372T>C, NM_001270691.1:c.372T>C, NM_019025.2:c.372T>C, XM_047440218.1:c.372T>C, XM_047440219.1:c.372T>C, NM_019025.1:c.372T>C, XM_047440217.1:c.372T>C, XM_047440222.1:c.372T>C, XM_047440220.1:c.372T>C, XM_047440221.1:c.372T>C, XM_047440223.1:c.372T>C

Select item 146667527215.

rs1466675272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:4175139 (GRCh38)
20:4155786 (GRCh37)
Canonical SPDI:: NC_000020.11:4175138:G:C
Gene:: SMOX (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000020.11:g.4175139G>C, NC_000020.10:g.4155786G>C, XM_011529261.3:c.84G>C, XM_011529261.2:c.84G>C, XM_011529261.1:c.84G>C, NM_175839.3:c.84G>C, NM_175839.2:c.84G>C, NM_175842.3:c.84G>C, NM_175842.2:c.84G>C, NM_175840.3:c.84G>C, NM_175840.2:c.84G>C, NM_175841.3:c.84G>C, NM_175841.2:c.84G>C, NM_001270691.2:c.84G>C, NM_001270691.1:c.84G>C, NM_019025.2:c.84G>C, XM_047440218.1:c.84G>C, XM_047440219.1:c.84G>C, NM_019025.1:c.84G>C, XM_047440217.1:c.84G>C, XM_047440222.1:c.84G>C, XM_047440220.1:c.84G>C, XM_047440221.1:c.84G>C, XM_047440223.1:c.84G>C

Select item 146634917916.

rs1466349179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:4187296 (GRCh38)
20:4167943 (GRCh37)
Canonical SPDI:: NC_000020.11:4187295:G:A
Gene:: SMOX (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000672/11 (TOMMO)
HGVS:: NC_000020.11:g.4187296G>A, NC_000020.10:g.4167943G>A, XM_011529261.3:c.1647G>A, XM_011529261.2:c.1647G>A, XM_011529261.1:c.1647G>A, NM_175839.3:c.1557G>A, NM_175839.2:c.1557G>A, NM_175842.3:c.1488G>A, NM_175842.2:c.1488G>A, NM_175840.3:c.1398G>A, NM_175840.2:c.1398G>A, NM_175841.3:c.462G>A, NM_175841.2:c.462G>A, NM_001270691.2:c.1647G>A, NM_001270691.1:c.1647G>A, NM_019025.2:c.1557G>A, XM_047440218.1:c.1647G>A, XM_047440219.1:c.1647G>A, NM_019025.1:c.1557G>A, XM_047440217.1:c.1647G>A, XM_047440222.1:c.1398G>A, XM_047440220.1:c.1557G>A, XM_047440221.1:c.1398G>A, XM_047440223.1:c.1398G>A

Select item 146632564517.

rs1466325645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:4177367 (GRCh38)
20:4158014 (GRCh37)
Canonical SPDI:: NC_000020.11:4177366:G:C
Gene:: SMOX (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.4177367G>C, NC_000020.10:g.4158014G>C, XM_011529261.3:c.225G>C, XM_011529261.2:c.225G>C, XM_011529261.1:c.225G>C, NM_175839.3:c.225G>C, NM_175839.2:c.225G>C, NM_175842.3:c.225G>C, NM_175842.2:c.225G>C, NM_175840.3:c.225G>C, NM_175840.2:c.225G>C, NM_175841.3:c.225G>C, NM_175841.2:c.225G>C, NM_001270691.2:c.225G>C, NM_001270691.1:c.225G>C, NM_019025.2:c.225G>C, XM_047440218.1:c.225G>C, XM_047440219.1:c.225G>C, NM_019025.1:c.225G>C, XM_047440217.1:c.225G>C, XM_047440222.1:c.225G>C, XM_047440220.1:c.225G>C, XM_047440221.1:c.225G>C, XM_047440223.1:c.225G>C, XP_011527563.1:p.Glu75Asp, NP_787033.1:p.Glu75Asp, NP_787036.1:p.Glu75Asp, NP_787034.1:p.Glu75Asp, NP_787035.1:p.Glu75Asp, NP_001257620.1:p.Glu75Asp, XP_047296174.1:p.Glu75Asp, XP_047296175.1:p.Glu75Asp, XP_047296173.1:p.Glu75Asp, XP_047296178.1:p.Glu75Asp, XP_047296176.1:p.Glu75Asp, XP_047296177.1:p.Glu75Asp, XP_047296179.1:p.Glu75Asp

Select item 146301680218.

rs1463016802 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACGGC [Show Flanks]
Chromosome:: 20:4182799 (GRCh38)
20:4163447 (GRCh37)
Canonical SPDI:: NC_000020.11:4182799::ACGGC
Gene:: SMOX (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACGGC=0.059/794 (ALFA)
HGVS:: NC_000020.11:g.4182799_4182800insACGGC, NC_000020.10:g.4163446_4163447insACGGC, XM_011529261.3:c.1320_1321insACGGC, XM_011529261.2:c.1320_1321insACGGC, XM_011529261.1:c.1320_1321insACGGC, NM_175839.3:c.1320_1321insACGGC, NM_175839.2:c.1320_1321insACGGC, NM_175842.3:c.1161_1162insACGGC, NM_175842.2:c.1161_1162insACGGC, NM_175840.3:c.1161_1162insACGGC, NM_175840.2:c.1161_1162insACGGC, NM_001270691.2:c.1320_1321insACGGC, NM_001270691.1:c.1320_1321insACGGC, NM_019025.2:c.1320_1321insACGGC, XM_047440218.1:c.1320_1321insACGGC, XM_047440219.1:c.1320_1321insACGGC, NM_019025.1:c.1320_1321insACGGC, XM_047440217.1:c.1320_1321insACGGC, XM_047440222.1:c.1161_1162insACGGC, XM_047440220.1:c.1320_1321insACGGC, XM_047440221.1:c.1161_1162insACGGC, XM_047440223.1:c.1161_1162insACGGC, XP_011527563.1:p.Asp441fs, NP_787033.1:p.Asp441fs, NP_787036.1:p.Asp388fs, NP_787034.1:p.Asp388fs, NP_001257620.1:p.Asp441fs, XP_047296174.1:p.Asp441fs, XP_047296175.1:p.Asp441fs, XP_047296173.1:p.Asp441fs, XP_047296178.1:p.Asp388fs, XP_047296176.1:p.Asp441fs, XP_047296177.1:p.Asp388fs, XP_047296179.1:p.Asp388fs

Select item 146264150819.

rs1462641508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:4182680 (GRCh38)
20:4163327 (GRCh37)
Canonical SPDI:: NC_000020.11:4182679:C:T
Gene:: SMOX (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.4182680C>T, NC_000020.10:g.4163327C>T, XM_011529261.3:c.1201C>T, XM_011529261.2:c.1201C>T, XM_011529261.1:c.1201C>T, NM_175839.3:c.1201C>T, NM_175839.2:c.1201C>T, NM_175842.3:c.1042C>T, NM_175842.2:c.1042C>T, NM_175840.3:c.1042C>T, NM_175840.2:c.1042C>T, NM_001270691.2:c.1201C>T, NM_001270691.1:c.1201C>T, NM_019025.2:c.1201C>T, XM_047440218.1:c.1201C>T, XM_047440219.1:c.1201C>T, NM_019025.1:c.1201C>T, XM_047440217.1:c.1201C>T, XM_047440222.1:c.1042C>T, XM_047440220.1:c.1201C>T, XM_047440221.1:c.1042C>T, XM_047440223.1:c.1042C>T, XP_011527563.1:p.Pro401Ser, NP_787033.1:p.Pro401Ser, NP_787036.1:p.Pro348Ser, NP_787034.1:p.Pro348Ser, NP_001257620.1:p.Pro401Ser, XP_047296174.1:p.Pro401Ser, XP_047296175.1:p.Pro401Ser, XP_047296173.1:p.Pro401Ser, XP_047296178.1:p.Pro348Ser, XP_047296176.1:p.Pro401Ser, XP_047296177.1:p.Pro348Ser, XP_047296179.1:p.Pro348Ser

Select item 146211174720.

rs1462111747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:4182308 (GRCh38)
20:4162955 (GRCh37)
Canonical SPDI:: NC_000020.11:4182307:G:A
Gene:: SMOX (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.4182308G>A, NC_000020.10:g.4162955G>A, XM_011529261.3:c.829G>A, XM_011529261.2:c.829G>A, XM_011529261.1:c.829G>A, NM_175839.3:c.829G>A, NM_175839.2:c.829G>A, NM_175842.3:c.829G>A, NM_175842.2:c.829G>A, NM_175840.3:c.829G>A, NM_175840.2:c.829G>A, NM_001270691.2:c.829G>A, NM_001270691.1:c.829G>A, NM_019025.2:c.829G>A, XM_047440218.1:c.829G>A, XM_047440219.1:c.829G>A, NM_019025.1:c.829G>A, XM_047440217.1:c.829G>A, XM_047440222.1:c.829G>A, XM_047440220.1:c.829G>A, XM_047440221.1:c.829G>A, XM_047440223.1:c.829G>A, XP_011527563.1:p.Glu277Lys, NP_787033.1:p.Glu277Lys, NP_787036.1:p.Glu277Lys, NP_787034.1:p.Glu277Lys, NP_001257620.1:p.Glu277Lys, XP_047296174.1:p.Glu277Lys, XP_047296175.1:p.Glu277Lys, XP_047296173.1:p.Glu277Lys, XP_047296178.1:p.Glu277Lys, XP_047296176.1:p.Glu277Lys, XP_047296177.1:p.Glu277Lys, XP_047296179.1:p.Glu277Lys

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