SNP Links for Protein (Select 13937401) - SNP

Select item 14904897551.

rs1490489755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:845603 (GRCh38)
20:826246 (GRCh37)
Canonical SPDI:: NC_000020.11:845602:G:A
Gene:: FAM110A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.845603G>A, NC_000020.10:g.826246G>A, NM_031424.6:c.799G>A, NM_031424.5:c.799G>A, NM_031424.4:c.799G>A, NM_207121.5:c.799G>A, NM_207121.4:c.799G>A, NM_207121.3:c.799G>A, XM_011529381.3:c.799G>A, XM_011529381.2:c.799G>A, XM_011529381.1:c.799G>A, NM_001042353.3:c.799G>A, NM_001042353.2:c.799G>A, NM_001042353.1:c.799G>A, NM_001289145.2:c.799G>A, NM_001289145.1:c.799G>A, NM_001289146.2:c.799G>A, NM_001289146.1:c.799G>A, NM_001289147.2:c.799G>A, NM_001289147.1:c.799G>A, XM_047440531.1:c.799G>A, NP_113612.1:p.Gly267Ser, NP_997004.1:p.Gly267Ser, XP_011527683.1:p.Gly267Ser, NP_001035812.1:p.Gly267Ser, NP_001276074.1:p.Gly267Ser, NP_001276075.1:p.Gly267Ser, NP_001276076.1:p.Gly267Ser, XP_047296487.1:p.Gly267Ser

Select item 14894314602.

rs1489431460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:845279 (GRCh38)
20:825922 (GRCh37)
Canonical SPDI:: NC_000020.11:845278:C:G
Gene:: FAM110A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.845279C>G, NC_000020.10:g.825922C>G, NM_031424.6:c.475C>G, NM_031424.5:c.475C>G, NM_031424.4:c.475C>G, NM_207121.5:c.475C>G, NM_207121.4:c.475C>G, NM_207121.3:c.475C>G, XM_011529381.3:c.475C>G, XM_011529381.2:c.475C>G, XM_011529381.1:c.475C>G, NM_001042353.3:c.475C>G, NM_001042353.2:c.475C>G, NM_001042353.1:c.475C>G, NM_001289145.2:c.475C>G, NM_001289145.1:c.475C>G, NM_001289146.2:c.475C>G, NM_001289146.1:c.475C>G, NM_001289147.2:c.475C>G, NM_001289147.1:c.475C>G, XM_047440531.1:c.475C>G, NP_113612.1:p.Leu159Val, NP_997004.1:p.Leu159Val, XP_011527683.1:p.Leu159Val, NP_001035812.1:p.Leu159Val, NP_001276074.1:p.Leu159Val, NP_001276075.1:p.Leu159Val, NP_001276076.1:p.Leu159Val, XP_047296487.1:p.Leu159Val

Select item 14856791633.

rs1485679163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:845006 (GRCh38)
20:825649 (GRCh37)
Canonical SPDI:: NC_000020.11:845005:C:A,NC_000020.11:845005:C:T
Gene:: FAM110A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.845006C>A, NC_000020.11:g.845006C>T, NC_000020.10:g.825649C>A, NC_000020.10:g.825649C>T, NM_031424.6:c.202C>A, NM_031424.6:c.202C>T, NM_031424.5:c.202C>A, NM_031424.5:c.202C>T, NM_031424.4:c.202C>A, NM_031424.4:c.202C>T, NM_207121.5:c.202C>A, NM_207121.5:c.202C>T, NM_207121.4:c.202C>A, NM_207121.4:c.202C>T, NM_207121.3:c.202C>A, NM_207121.3:c.202C>T, XM_011529381.3:c.202C>A, XM_011529381.3:c.202C>T, XM_011529381.2:c.202C>A, XM_011529381.2:c.202C>T, XM_011529381.1:c.202C>A, XM_011529381.1:c.202C>T, NM_001042353.3:c.202C>A, NM_001042353.3:c.202C>T, NM_001042353.2:c.202C>A, NM_001042353.2:c.202C>T, NM_001042353.1:c.202C>A, NM_001042353.1:c.202C>T, NM_001289145.2:c.202C>A, NM_001289145.2:c.202C>T, NM_001289145.1:c.202C>A, NM_001289145.1:c.202C>T, NM_001289146.2:c.202C>A, NM_001289146.2:c.202C>T, NM_001289146.1:c.202C>A, NM_001289146.1:c.202C>T, NM_001289147.2:c.202C>A, NM_001289147.2:c.202C>T, NM_001289147.1:c.202C>A, NM_001289147.1:c.202C>T, XM_047440531.1:c.202C>A, XM_047440531.1:c.202C>T, NP_113612.1:p.Gln68Lys, NP_113612.1:p.Gln68Ter, NP_997004.1:p.Gln68Lys, NP_997004.1:p.Gln68Ter, XP_011527683.1:p.Gln68Lys, XP_011527683.1:p.Gln68Ter, NP_001035812.1:p.Gln68Lys, NP_001035812.1:p.Gln68Ter, NP_001276074.1:p.Gln68Lys, NP_001276074.1:p.Gln68Ter, NP_001276075.1:p.Gln68Lys, NP_001276075.1:p.Gln68Ter, NP_001276076.1:p.Gln68Lys, NP_001276076.1:p.Gln68Ter, XP_047296487.1:p.Gln68Lys, XP_047296487.1:p.Gln68Ter

Select item 14843109944.

rs1484310994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:845001 (GRCh38)
20:825644 (GRCh37)
Canonical SPDI:: NC_000020.11:845000:C:T
Gene:: FAM110A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.845001C>T, NC_000020.10:g.825644C>T, NM_031424.6:c.197C>T, NM_031424.5:c.197C>T, NM_031424.4:c.197C>T, NM_207121.5:c.197C>T, NM_207121.4:c.197C>T, NM_207121.3:c.197C>T, XM_011529381.3:c.197C>T, XM_011529381.2:c.197C>T, XM_011529381.1:c.197C>T, NM_001042353.3:c.197C>T, NM_001042353.2:c.197C>T, NM_001042353.1:c.197C>T, NM_001289145.2:c.197C>T, NM_001289145.1:c.197C>T, NM_001289146.2:c.197C>T, NM_001289146.1:c.197C>T, NM_001289147.2:c.197C>T, NM_001289147.1:c.197C>T, XM_047440531.1:c.197C>T, NP_113612.1:p.Pro66Leu, NP_997004.1:p.Pro66Leu, XP_011527683.1:p.Pro66Leu, NP_001035812.1:p.Pro66Leu, NP_001276074.1:p.Pro66Leu, NP_001276075.1:p.Pro66Leu, NP_001276076.1:p.Pro66Leu, XP_047296487.1:p.Pro66Leu

Select item 14837193495.

rs1483719349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:845461 (GRCh38)
20:826104 (GRCh37)
Canonical SPDI:: NC_000020.11:845460:G:T
Gene:: FAM110A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.845461G>T, NC_000020.10:g.826104G>T, NM_031424.6:c.657G>T, NM_031424.5:c.657G>T, NM_031424.4:c.657G>T, NM_207121.5:c.657G>T, NM_207121.4:c.657G>T, NM_207121.3:c.657G>T, XM_011529381.3:c.657G>T, XM_011529381.2:c.657G>T, XM_011529381.1:c.657G>T, NM_001042353.3:c.657G>T, NM_001042353.2:c.657G>T, NM_001042353.1:c.657G>T, NM_001289145.2:c.657G>T, NM_001289145.1:c.657G>T, NM_001289146.2:c.657G>T, NM_001289146.1:c.657G>T, NM_001289147.2:c.657G>T, NM_001289147.1:c.657G>T, XM_047440531.1:c.657G>T, NP_113612.1:p.Leu219Phe, NP_997004.1:p.Leu219Phe, XP_011527683.1:p.Leu219Phe, NP_001035812.1:p.Leu219Phe, NP_001276074.1:p.Leu219Phe, NP_001276075.1:p.Leu219Phe, NP_001276076.1:p.Leu219Phe, XP_047296487.1:p.Leu219Phe

Select item 14820806636.

rs1482080663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:845220 (GRCh38)
20:825863 (GRCh37)
Canonical SPDI:: NC_000020.11:845219:C:T
Gene:: FAM110A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.845220C>T, NC_000020.10:g.825863C>T, NM_031424.6:c.416C>T, NM_031424.5:c.416C>T, NM_031424.4:c.416C>T, NM_207121.5:c.416C>T, NM_207121.4:c.416C>T, NM_207121.3:c.416C>T, XM_011529381.3:c.416C>T, XM_011529381.2:c.416C>T, XM_011529381.1:c.416C>T, NM_001042353.3:c.416C>T, NM_001042353.2:c.416C>T, NM_001042353.1:c.416C>T, NM_001289145.2:c.416C>T, NM_001289145.1:c.416C>T, NM_001289146.2:c.416C>T, NM_001289146.1:c.416C>T, NM_001289147.2:c.416C>T, NM_001289147.1:c.416C>T, XM_047440531.1:c.416C>T, NP_113612.1:p.Ala139Val, NP_997004.1:p.Ala139Val, XP_011527683.1:p.Ala139Val, NP_001035812.1:p.Ala139Val, NP_001276074.1:p.Ala139Val, NP_001276075.1:p.Ala139Val, NP_001276076.1:p.Ala139Val, XP_047296487.1:p.Ala139Val

Select item 14802510207.

rs1480251020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:845638 (GRCh38)
20:826281 (GRCh37)
Canonical SPDI:: NC_000020.11:845637:C:G,NC_000020.11:845637:C:T
Gene:: FAM110A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.845638C>G, NC_000020.11:g.845638C>T, NC_000020.10:g.826281C>G, NC_000020.10:g.826281C>T, NM_031424.6:c.834C>G, NM_031424.6:c.834C>T, NM_031424.5:c.834C>G, NM_031424.5:c.834C>T, NM_031424.4:c.834C>G, NM_031424.4:c.834C>T, NM_207121.5:c.834C>G, NM_207121.5:c.834C>T, NM_207121.4:c.834C>G, NM_207121.4:c.834C>T, NM_207121.3:c.834C>G, NM_207121.3:c.834C>T, XM_011529381.3:c.834C>G, XM_011529381.3:c.834C>T, XM_011529381.2:c.834C>G, XM_011529381.2:c.834C>T, XM_011529381.1:c.834C>G, XM_011529381.1:c.834C>T, NM_001042353.3:c.834C>G, NM_001042353.3:c.834C>T, NM_001042353.2:c.834C>G, NM_001042353.2:c.834C>T, NM_001042353.1:c.834C>G, NM_001042353.1:c.834C>T, NM_001289145.2:c.834C>G, NM_001289145.2:c.834C>T, NM_001289145.1:c.834C>G, NM_001289145.1:c.834C>T, NM_001289146.2:c.834C>G, NM_001289146.2:c.834C>T, NM_001289146.1:c.834C>G, NM_001289146.1:c.834C>T, NM_001289147.2:c.834C>G, NM_001289147.2:c.834C>T, NM_001289147.1:c.834C>G, NM_001289147.1:c.834C>T, XM_047440531.1:c.834C>G, XM_047440531.1:c.834C>T, NP_113612.1:p.Ile278Met, NP_997004.1:p.Ile278Met, XP_011527683.1:p.Ile278Met, NP_001035812.1:p.Ile278Met, NP_001276074.1:p.Ile278Met, NP_001276075.1:p.Ile278Met, NP_001276076.1:p.Ile278Met, XP_047296487.1:p.Ile278Met

Select item 14766742948.

rs1476674294 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:845607 (GRCh38)
20:826250 (GRCh37)
Canonical SPDI:: NC_000020.11:845606:T:C
Gene:: FAM110A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.845607T>C, NC_000020.10:g.826250T>C, NM_031424.6:c.803T>C, NM_031424.5:c.803T>C, NM_031424.4:c.803T>C, NM_207121.5:c.803T>C, NM_207121.4:c.803T>C, NM_207121.3:c.803T>C, XM_011529381.3:c.803T>C, XM_011529381.2:c.803T>C, XM_011529381.1:c.803T>C, NM_001042353.3:c.803T>C, NM_001042353.2:c.803T>C, NM_001042353.1:c.803T>C, NM_001289145.2:c.803T>C, NM_001289145.1:c.803T>C, NM_001289146.2:c.803T>C, NM_001289146.1:c.803T>C, NM_001289147.2:c.803T>C, NM_001289147.1:c.803T>C, XM_047440531.1:c.803T>C, NP_113612.1:p.Val268Ala, NP_997004.1:p.Val268Ala, XP_011527683.1:p.Val268Ala, NP_001035812.1:p.Val268Ala, NP_001276074.1:p.Val268Ala, NP_001276075.1:p.Val268Ala, NP_001276076.1:p.Val268Ala, XP_047296487.1:p.Val268Ala

Select item 14763723919.

rs1476372391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:845405 (GRCh38)
20:826048 (GRCh37)
Canonical SPDI:: NC_000020.11:845404:G:A
Gene:: FAM110A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.845405G>A, NC_000020.10:g.826048G>A, NM_031424.6:c.601G>A, NM_031424.5:c.601G>A, NM_031424.4:c.601G>A, NM_207121.5:c.601G>A, NM_207121.4:c.601G>A, NM_207121.3:c.601G>A, XM_011529381.3:c.601G>A, XM_011529381.2:c.601G>A, XM_011529381.1:c.601G>A, NM_001042353.3:c.601G>A, NM_001042353.2:c.601G>A, NM_001042353.1:c.601G>A, NM_001289145.2:c.601G>A, NM_001289145.1:c.601G>A, NM_001289146.2:c.601G>A, NM_001289146.1:c.601G>A, NM_001289147.2:c.601G>A, NM_001289147.1:c.601G>A, XM_047440531.1:c.601G>A, NP_113612.1:p.Asp201Asn, NP_997004.1:p.Asp201Asn, XP_011527683.1:p.Asp201Asn, NP_001035812.1:p.Asp201Asn, NP_001276074.1:p.Asp201Asn, NP_001276075.1:p.Asp201Asn, NP_001276076.1:p.Asp201Asn, XP_047296487.1:p.Asp201Asn

Select item 147532697110.

rs1475326971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:844960 (GRCh38)
20:825603 (GRCh37)
Canonical SPDI:: NC_000020.11:844959:G:A,NC_000020.11:844959:G:C
Gene:: FAM110A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.844960G>A, NC_000020.11:g.844960G>C, NC_000020.10:g.825603G>A, NC_000020.10:g.825603G>C, NM_031424.6:c.156G>A, NM_031424.6:c.156G>C, NM_031424.5:c.156G>A, NM_031424.5:c.156G>C, NM_031424.4:c.156G>A, NM_031424.4:c.156G>C, NM_207121.5:c.156G>A, NM_207121.5:c.156G>C, NM_207121.4:c.156G>A, NM_207121.4:c.156G>C, NM_207121.3:c.156G>A, NM_207121.3:c.156G>C, XM_011529381.3:c.156G>A, XM_011529381.3:c.156G>C, XM_011529381.2:c.156G>A, XM_011529381.2:c.156G>C, XM_011529381.1:c.156G>A, XM_011529381.1:c.156G>C, NM_001042353.3:c.156G>A, NM_001042353.3:c.156G>C, NM_001042353.2:c.156G>A, NM_001042353.2:c.156G>C, NM_001042353.1:c.156G>A, NM_001042353.1:c.156G>C, NM_001289145.2:c.156G>A, NM_001289145.2:c.156G>C, NM_001289145.1:c.156G>A, NM_001289145.1:c.156G>C, NM_001289146.2:c.156G>A, NM_001289146.2:c.156G>C, NM_001289146.1:c.156G>A, NM_001289146.1:c.156G>C, NM_001289147.2:c.156G>A, NM_001289147.2:c.156G>C, NM_001289147.1:c.156G>A, NM_001289147.1:c.156G>C, XM_047440531.1:c.156G>A, XM_047440531.1:c.156G>C, NP_113612.1:p.Lys52Asn, NP_997004.1:p.Lys52Asn, XP_011527683.1:p.Lys52Asn, NP_001035812.1:p.Lys52Asn, NP_001276074.1:p.Lys52Asn, NP_001276075.1:p.Lys52Asn, NP_001276076.1:p.Lys52Asn, XP_047296487.1:p.Lys52Asn

Select item 147391121811.

rs1473911218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:845230 (GRCh38)
20:825873 (GRCh37)
Canonical SPDI:: NC_000020.11:845229:G:A
Gene:: FAM110A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000156/1 (1000Genomes)
A=0.000562/1 (Korea1K)
HGVS:: NC_000020.11:g.845230G>A, NC_000020.10:g.825873G>A, NM_031424.6:c.426G>A, NM_031424.5:c.426G>A, NM_031424.4:c.426G>A, NM_207121.5:c.426G>A, NM_207121.4:c.426G>A, NM_207121.3:c.426G>A, XM_011529381.3:c.426G>A, XM_011529381.2:c.426G>A, XM_011529381.1:c.426G>A, NM_001042353.3:c.426G>A, NM_001042353.2:c.426G>A, NM_001042353.1:c.426G>A, NM_001289145.2:c.426G>A, NM_001289145.1:c.426G>A, NM_001289146.2:c.426G>A, NM_001289146.1:c.426G>A, NM_001289147.2:c.426G>A, NM_001289147.1:c.426G>A, XM_047440531.1:c.426G>A

Select item 147290459012.

rs1472904590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:844963 (GRCh38)
20:825606 (GRCh37)
Canonical SPDI:: NC_000020.11:844962:C:T
Gene:: FAM110A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.844963C>T, NC_000020.10:g.825606C>T, NM_031424.6:c.159C>T, NM_031424.5:c.159C>T, NM_031424.4:c.159C>T, NM_207121.5:c.159C>T, NM_207121.4:c.159C>T, NM_207121.3:c.159C>T, XM_011529381.3:c.159C>T, XM_011529381.2:c.159C>T, XM_011529381.1:c.159C>T, NM_001042353.3:c.159C>T, NM_001042353.2:c.159C>T, NM_001042353.1:c.159C>T, NM_001289145.2:c.159C>T, NM_001289145.1:c.159C>T, NM_001289146.2:c.159C>T, NM_001289146.1:c.159C>T, NM_001289147.2:c.159C>T, NM_001289147.1:c.159C>T, XM_047440531.1:c.159C>T

Select item 147048223813.

rs1470482238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:845173 (GRCh38)
20:825816 (GRCh37)
Canonical SPDI:: NC_000020.11:845172:C:T
Gene:: FAM110A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000020.11:g.845173C>T, NC_000020.10:g.825816C>T, NM_031424.6:c.369C>T, NM_031424.5:c.369C>T, NM_031424.4:c.369C>T, NM_207121.5:c.369C>T, NM_207121.4:c.369C>T, NM_207121.3:c.369C>T, XM_011529381.3:c.369C>T, XM_011529381.2:c.369C>T, XM_011529381.1:c.369C>T, NM_001042353.3:c.369C>T, NM_001042353.2:c.369C>T, NM_001042353.1:c.369C>T, NM_001289145.2:c.369C>T, NM_001289145.1:c.369C>T, NM_001289146.2:c.369C>T, NM_001289146.1:c.369C>T, NM_001289147.2:c.369C>T, NM_001289147.1:c.369C>T, XM_047440531.1:c.369C>T

Select item 146953044314.

rs1469530443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:845585 (GRCh38)
20:826228 (GRCh37)
Canonical SPDI:: NC_000020.11:845584:C:G,NC_000020.11:845584:C:T
Gene:: FAM110A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.845585C>G, NC_000020.11:g.845585C>T, NC_000020.10:g.826228C>G, NC_000020.10:g.826228C>T, NM_031424.6:c.781C>G, NM_031424.6:c.781C>T, NM_031424.5:c.781C>G, NM_031424.5:c.781C>T, NM_031424.4:c.781C>G, NM_031424.4:c.781C>T, NM_207121.5:c.781C>G, NM_207121.5:c.781C>T, NM_207121.4:c.781C>G, NM_207121.4:c.781C>T, NM_207121.3:c.781C>G, NM_207121.3:c.781C>T, XM_011529381.3:c.781C>G, XM_011529381.3:c.781C>T, XM_011529381.2:c.781C>G, XM_011529381.2:c.781C>T, XM_011529381.1:c.781C>G, XM_011529381.1:c.781C>T, NM_001042353.3:c.781C>G, NM_001042353.3:c.781C>T, NM_001042353.2:c.781C>G, NM_001042353.2:c.781C>T, NM_001042353.1:c.781C>G, NM_001042353.1:c.781C>T, NM_001289145.2:c.781C>G, NM_001289145.2:c.781C>T, NM_001289145.1:c.781C>G, NM_001289145.1:c.781C>T, NM_001289146.2:c.781C>G, NM_001289146.2:c.781C>T, NM_001289146.1:c.781C>G, NM_001289146.1:c.781C>T, NM_001289147.2:c.781C>G, NM_001289147.2:c.781C>T, NM_001289147.1:c.781C>G, NM_001289147.1:c.781C>T, XM_047440531.1:c.781C>G, XM_047440531.1:c.781C>T, NP_113612.1:p.Arg261Gly, NP_113612.1:p.Arg261Trp, NP_997004.1:p.Arg261Gly, NP_997004.1:p.Arg261Trp, XP_011527683.1:p.Arg261Gly, XP_011527683.1:p.Arg261Trp, NP_001035812.1:p.Arg261Gly, NP_001035812.1:p.Arg261Trp, NP_001276074.1:p.Arg261Gly, NP_001276074.1:p.Arg261Trp, NP_001276075.1:p.Arg261Gly, NP_001276075.1:p.Arg261Trp, NP_001276076.1:p.Arg261Gly, NP_001276076.1:p.Arg261Trp, XP_047296487.1:p.Arg261Gly, XP_047296487.1:p.Arg261Trp

Select item 146673388415.

rs1466733884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:845535 (GRCh38)
20:826178 (GRCh37)
Canonical SPDI:: NC_000020.11:845534:C:G
Gene:: FAM110A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.845535C>G, NC_000020.10:g.826178C>G, NM_031424.6:c.731C>G, NM_031424.5:c.731C>G, NM_031424.4:c.731C>G, NM_207121.5:c.731C>G, NM_207121.4:c.731C>G, NM_207121.3:c.731C>G, XM_011529381.3:c.731C>G, XM_011529381.2:c.731C>G, XM_011529381.1:c.731C>G, NM_001042353.3:c.731C>G, NM_001042353.2:c.731C>G, NM_001042353.1:c.731C>G, NM_001289145.2:c.731C>G, NM_001289145.1:c.731C>G, NM_001289146.2:c.731C>G, NM_001289146.1:c.731C>G, NM_001289147.2:c.731C>G, NM_001289147.1:c.731C>G, XM_047440531.1:c.731C>G, NP_113612.1:p.Ser244Cys, NP_997004.1:p.Ser244Cys, XP_011527683.1:p.Ser244Cys, NP_001035812.1:p.Ser244Cys, NP_001276074.1:p.Ser244Cys, NP_001276075.1:p.Ser244Cys, NP_001276076.1:p.Ser244Cys, XP_047296487.1:p.Ser244Cys

Select item 146329331416.

rs1463293314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:845114 (GRCh38)
20:825757 (GRCh37)
Canonical SPDI:: NC_000020.11:845113:C:T
Gene:: FAM110A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.845114C>T, NC_000020.10:g.825757C>T, NM_031424.6:c.310C>T, NM_031424.5:c.310C>T, NM_031424.4:c.310C>T, NM_207121.5:c.310C>T, NM_207121.4:c.310C>T, NM_207121.3:c.310C>T, XM_011529381.3:c.310C>T, XM_011529381.2:c.310C>T, XM_011529381.1:c.310C>T, NM_001042353.3:c.310C>T, NM_001042353.2:c.310C>T, NM_001042353.1:c.310C>T, NM_001289145.2:c.310C>T, NM_001289145.1:c.310C>T, NM_001289146.2:c.310C>T, NM_001289146.1:c.310C>T, NM_001289147.2:c.310C>T, NM_001289147.1:c.310C>T, XM_047440531.1:c.310C>T

Select item 146166301217.

rs1461663012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 20:844895 (GRCh38)
20:825538 (GRCh37)
Canonical SPDI:: NC_000020.11:844894:G:A,NC_000020.11:844894:G:C,NC_000020.11:844894:G:T
Gene:: FAM110A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.844895G>A, NC_000020.11:g.844895G>C, NC_000020.11:g.844895G>T, NC_000020.10:g.825538G>A, NC_000020.10:g.825538G>C, NC_000020.10:g.825538G>T, NM_031424.6:c.91G>A, NM_031424.6:c.91G>C, NM_031424.6:c.91G>T, NM_031424.5:c.91G>A, NM_031424.5:c.91G>C, NM_031424.5:c.91G>T, NM_031424.4:c.91G>A, NM_031424.4:c.91G>C, NM_031424.4:c.91G>T, NM_207121.5:c.91G>A, NM_207121.5:c.91G>C, NM_207121.5:c.91G>T, NM_207121.4:c.91G>A, NM_207121.4:c.91G>C, NM_207121.4:c.91G>T, NM_207121.3:c.91G>A, NM_207121.3:c.91G>C, NM_207121.3:c.91G>T, XM_011529381.3:c.91G>A, XM_011529381.3:c.91G>C, XM_011529381.3:c.91G>T, XM_011529381.2:c.91G>A, XM_011529381.2:c.91G>C, XM_011529381.2:c.91G>T, XM_011529381.1:c.91G>A, XM_011529381.1:c.91G>C, XM_011529381.1:c.91G>T, NM_001042353.3:c.91G>A, NM_001042353.3:c.91G>C, NM_001042353.3:c.91G>T, NM_001042353.2:c.91G>A, NM_001042353.2:c.91G>C, NM_001042353.2:c.91G>T, NM_001042353.1:c.91G>A, NM_001042353.1:c.91G>C, NM_001042353.1:c.91G>T, NM_001289145.2:c.91G>A, NM_001289145.2:c.91G>C, NM_001289145.2:c.91G>T, NM_001289145.1:c.91G>A, NM_001289145.1:c.91G>C, NM_001289145.1:c.91G>T, NM_001289146.2:c.91G>A, NM_001289146.2:c.91G>C, NM_001289146.2:c.91G>T, NM_001289146.1:c.91G>A, NM_001289146.1:c.91G>C, NM_001289146.1:c.91G>T, NM_001289147.2:c.91G>A, NM_001289147.2:c.91G>C, NM_001289147.2:c.91G>T, NM_001289147.1:c.91G>A, NM_001289147.1:c.91G>C, NM_001289147.1:c.91G>T, XM_047440531.1:c.91G>A, XM_047440531.1:c.91G>C, XM_047440531.1:c.91G>T, NP_113612.1:p.Gly31Arg, NP_113612.1:p.Gly31Arg, NP_113612.1:p.Gly31Trp, NP_997004.1:p.Gly31Arg, NP_997004.1:p.Gly31Arg, NP_997004.1:p.Gly31Trp, XP_011527683.1:p.Gly31Arg, XP_011527683.1:p.Gly31Arg, XP_011527683.1:p.Gly31Trp, NP_001035812.1:p.Gly31Arg, NP_001035812.1:p.Gly31Arg, NP_001035812.1:p.Gly31Trp, NP_001276074.1:p.Gly31Arg, NP_001276074.1:p.Gly31Arg, NP_001276074.1:p.Gly31Trp, NP_001276075.1:p.Gly31Arg, NP_001276075.1:p.Gly31Arg, NP_001276075.1:p.Gly31Trp, NP_001276076.1:p.Gly31Arg, NP_001276076.1:p.Gly31Arg, NP_001276076.1:p.Gly31Trp, XP_047296487.1:p.Gly31Arg, XP_047296487.1:p.Gly31Arg, XP_047296487.1:p.Gly31Trp

Select item 145853429518.

rs1458534295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:845362 (GRCh38)
20:826005 (GRCh37)
Canonical SPDI:: NC_000020.11:845361:C:T
Gene:: FAM110A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000020.11:g.845362C>T, NC_000020.10:g.826005C>T, NM_031424.6:c.558C>T, NM_031424.5:c.558C>T, NM_031424.4:c.558C>T, NM_207121.5:c.558C>T, NM_207121.4:c.558C>T, NM_207121.3:c.558C>T, XM_011529381.3:c.558C>T, XM_011529381.2:c.558C>T, XM_011529381.1:c.558C>T, NM_001042353.3:c.558C>T, NM_001042353.2:c.558C>T, NM_001042353.1:c.558C>T, NM_001289145.2:c.558C>T, NM_001289145.1:c.558C>T, NM_001289146.2:c.558C>T, NM_001289146.1:c.558C>T, NM_001289147.2:c.558C>T, NM_001289147.1:c.558C>T, XM_047440531.1:c.558C>T

Select item 145830670519.

rs1458306705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:844886 (GRCh38)
20:825529 (GRCh37)
Canonical SPDI:: NC_000020.11:844885:C:T
Gene:: FAM110A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000045/7 (GnomAD_exomes)
HGVS:: NC_000020.11:g.844886C>T, NC_000020.10:g.825529C>T, NM_031424.6:c.82C>T, NM_031424.5:c.82C>T, NM_031424.4:c.82C>T, NM_207121.5:c.82C>T, NM_207121.4:c.82C>T, NM_207121.3:c.82C>T, XM_011529381.3:c.82C>T, XM_011529381.2:c.82C>T, XM_011529381.1:c.82C>T, NM_001042353.3:c.82C>T, NM_001042353.2:c.82C>T, NM_001042353.1:c.82C>T, NM_001289145.2:c.82C>T, NM_001289145.1:c.82C>T, NM_001289146.2:c.82C>T, NM_001289146.1:c.82C>T, NM_001289147.2:c.82C>T, NM_001289147.1:c.82C>T, XM_047440531.1:c.82C>T

Select item 145716057720.

rs1457160577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:844967 (GRCh38)
20:825610 (GRCh37)
Canonical SPDI:: NC_000020.11:844966:A:G
Gene:: FAM110A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.844967A>G, NC_000020.10:g.825610A>G, NM_031424.6:c.163A>G, NM_031424.5:c.163A>G, NM_031424.4:c.163A>G, NM_207121.5:c.163A>G, NM_207121.4:c.163A>G, NM_207121.3:c.163A>G, XM_011529381.3:c.163A>G, XM_011529381.2:c.163A>G, XM_011529381.1:c.163A>G, NM_001042353.3:c.163A>G, NM_001042353.2:c.163A>G, NM_001042353.1:c.163A>G, NM_001289145.2:c.163A>G, NM_001289145.1:c.163A>G, NM_001289146.2:c.163A>G, NM_001289146.1:c.163A>G, NM_001289147.2:c.163A>G, NM_001289147.1:c.163A>G, XM_047440531.1:c.163A>G, NP_113612.1:p.Lys55Glu, NP_997004.1:p.Lys55Glu, XP_011527683.1:p.Lys55Glu, NP_001035812.1:p.Lys55Glu, NP_001276074.1:p.Lys55Glu, NP_001276075.1:p.Lys55Glu, NP_001276076.1:p.Lys55Glu, XP_047296487.1:p.Lys55Glu

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