SNP Links for Protein (Select 307691225) - SNP

Select item 14898414191.

rs1489841419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6625254 (GRCh38)
1:6685314 (GRCh37)
Canonical SPDI:: NC_000001.11:6625253:C:T
Gene:: THAP3 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000071/10 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6625254C>T, NC_000001.10:g.6685314C>T, NM_138350.4:c.36C>T, NM_138350.3:c.36C>T, NM_001195753.2:c.36C>T, NM_001195753.1:c.36C>T, NM_001195752.2:c.36C>T, NM_001195752.1:c.36C>T, XM_024450686.2:c.36C>T, XM_024450686.1:c.36C>T, NM_001394497.1:c.36C>T, NM_001394498.1:c.36C>T, NM_001394496.1:c.36C>T, XM_047433628.1:c.36C>T, NM_001394499.1:c.36C>T, NM_001394500.1:c.36C>T

Select item 14898064172.

rs1489806417 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:6633041 (GRCh38)
1:6693101 (GRCh37)
Canonical SPDI:: NC_000001.11:6633040:A:G
Gene:: THAP3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.6633041A>G, NC_000001.10:g.6693101A>G, XM_011542400.3:c.540A>G, XM_011542400.2:c.540A>G, XM_011542400.1:c.540A>G, NM_001195753.2:c.684A>G, NM_001195753.1:c.684A>G, NM_001195752.2:c.681A>G, NM_001195752.1:c.681A>G, XM_024450686.2:c.*119A>G, XM_024450686.1:c.*119A>G, NM_001394496.1:c.705A>G, XM_047433628.1:c.*119A>G, NM_001394499.1:c.*119A>G, NM_001394500.1:c.*119A>G

Select item 14862642133.

rs1486264213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:6625245 (GRCh38)
1:6685305 (GRCh37)
Canonical SPDI:: NC_000001.11:6625244:G:A,NC_000001.11:6625244:G:C
Gene:: THAP3 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6625245G>A, NC_000001.11:g.6625245G>C, NC_000001.10:g.6685305G>A, NC_000001.10:g.6685305G>C, NM_138350.4:c.27G>A, NM_138350.4:c.27G>C, NM_138350.3:c.27G>A, NM_138350.3:c.27G>C, NM_001195753.2:c.27G>A, NM_001195753.2:c.27G>C, NM_001195753.1:c.27G>A, NM_001195753.1:c.27G>C, NM_001195752.2:c.27G>A, NM_001195752.2:c.27G>C, NM_001195752.1:c.27G>A, NM_001195752.1:c.27G>C, XM_024450686.2:c.27G>A, XM_024450686.2:c.27G>C, XM_024450686.1:c.27G>A, XM_024450686.1:c.27G>C, NM_001394497.1:c.27G>A, NM_001394497.1:c.27G>C, NM_001394498.1:c.27G>A, NM_001394498.1:c.27G>C, NM_001394496.1:c.27G>A, NM_001394496.1:c.27G>C, XM_047433628.1:c.27G>A, XM_047433628.1:c.27G>C, NM_001394499.1:c.27G>A, NM_001394499.1:c.27G>C, NM_001394500.1:c.27G>A, NM_001394500.1:c.27G>C, NP_612359.2:p.Gln9His, NP_001182682.1:p.Gln9His, NP_001182681.1:p.Gln9His, XP_024306454.1:p.Gln9His, NP_001381426.1:p.Gln9His, NP_001381427.1:p.Gln9His, NP_001381425.1:p.Gln9His, XP_047289584.1:p.Gln9His, NP_001381428.1:p.Gln9His, NP_001381429.1:p.Gln9His

Select item 14793892234.

rs1479389223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:6625223 (GRCh38)
1:6685283 (GRCh37)
Canonical SPDI:: NC_000001.11:6625222:C:A,NC_000001.11:6625222:C:G,NC_000001.11:6625222:C:T
Gene:: THAP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000156/1 (1000Genomes)
A=0.000566/1 (Korea1K)
G=0.000688/2 (KOREAN)
HGVS:: NC_000001.11:g.6625223C>A, NC_000001.11:g.6625223C>G, NC_000001.11:g.6625223C>T, NC_000001.10:g.6685283C>A, NC_000001.10:g.6685283C>G, NC_000001.10:g.6685283C>T, NM_138350.4:c.5C>A, NM_138350.4:c.5C>G, NM_138350.4:c.5C>T, NM_138350.3:c.5C>A, NM_138350.3:c.5C>G, NM_138350.3:c.5C>T, NM_001195753.2:c.5C>A, NM_001195753.2:c.5C>G, NM_001195753.2:c.5C>T, NM_001195753.1:c.5C>A, NM_001195753.1:c.5C>G, NM_001195753.1:c.5C>T, NM_001195752.2:c.5C>A, NM_001195752.2:c.5C>G, NM_001195752.2:c.5C>T, NM_001195752.1:c.5C>A, NM_001195752.1:c.5C>G, NM_001195752.1:c.5C>T, XM_024450686.2:c.5C>A, XM_024450686.2:c.5C>G, XM_024450686.2:c.5C>T, XM_024450686.1:c.5C>A, XM_024450686.1:c.5C>G, XM_024450686.1:c.5C>T, NM_001394497.1:c.5C>A, NM_001394497.1:c.5C>G, NM_001394497.1:c.5C>T, NM_001394498.1:c.5C>A, NM_001394498.1:c.5C>G, NM_001394498.1:c.5C>T, NM_001394496.1:c.5C>A, NM_001394496.1:c.5C>G, NM_001394496.1:c.5C>T, XM_047433628.1:c.5C>A, XM_047433628.1:c.5C>G, XM_047433628.1:c.5C>T, NM_001394499.1:c.5C>A, NM_001394499.1:c.5C>G, NM_001394499.1:c.5C>T, NM_001394500.1:c.5C>A, NM_001394500.1:c.5C>G, NM_001394500.1:c.5C>T, NP_612359.2:p.Pro2Gln, NP_612359.2:p.Pro2Arg, NP_612359.2:p.Pro2Leu, NP_001182682.1:p.Pro2Gln, NP_001182682.1:p.Pro2Arg, NP_001182682.1:p.Pro2Leu, NP_001182681.1:p.Pro2Gln, NP_001182681.1:p.Pro2Arg, NP_001182681.1:p.Pro2Leu, XP_024306454.1:p.Pro2Gln, XP_024306454.1:p.Pro2Arg, XP_024306454.1:p.Pro2Leu, NP_001381426.1:p.Pro2Gln, NP_001381426.1:p.Pro2Arg, NP_001381426.1:p.Pro2Leu, NP_001381427.1:p.Pro2Gln, NP_001381427.1:p.Pro2Arg, NP_001381427.1:p.Pro2Leu, NP_001381425.1:p.Pro2Gln, NP_001381425.1:p.Pro2Arg, NP_001381425.1:p.Pro2Leu, XP_047289584.1:p.Pro2Gln, XP_047289584.1:p.Pro2Arg, XP_047289584.1:p.Pro2Leu, NP_001381428.1:p.Pro2Gln, NP_001381428.1:p.Pro2Arg, NP_001381428.1:p.Pro2Leu, NP_001381429.1:p.Pro2Gln, NP_001381429.1:p.Pro2Arg, NP_001381429.1:p.Pro2Leu

Select item 14656244985.

rs1465624498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6633057 (GRCh38)
1:6693117 (GRCh37)
Canonical SPDI:: NC_000001.11:6633056:G:A
Gene:: THAP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
HGVS:: NC_000001.11:g.6633057G>A, NC_000001.10:g.6693117G>A, XM_011542400.3:c.556G>A, XM_011542400.2:c.556G>A, XM_011542400.1:c.556G>A, NM_001195753.2:c.700G>A, NM_001195753.1:c.700G>A, NM_001195752.2:c.697G>A, NM_001195752.1:c.697G>A, XM_024450686.2:c.*135G>A, XM_024450686.1:c.*135G>A, NM_001394496.1:c.721G>A, XM_047433628.1:c.*135G>A, NM_001394499.1:c.*135G>A, NM_001394500.1:c.*135G>A, XP_011540702.1:p.Gly186Arg, NP_001182682.1:p.Gly234Arg, NP_001182681.1:p.Gly233Arg, NP_001381425.1:p.Gly241Arg

Select item 14643708446.

rs1464370844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:6632452 (GRCh38)
1:6692512 (GRCh37)
Canonical SPDI:: NC_000001.11:6632451:A:C
Gene:: THAP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6632452A>C, NC_000001.10:g.6692512A>C, NM_138350.4:c.416A>C, NM_138350.3:c.416A>C, XM_011542400.3:c.251A>C, XM_011542400.2:c.251A>C, XM_011542400.1:c.251A>C, NM_001195753.2:c.395A>C, NM_001195753.1:c.395A>C, NM_001195752.2:c.392A>C, NM_001195752.1:c.392A>C, XM_024450686.2:c.392A>C, XM_024450686.1:c.392A>C, NM_001394497.1:c.395A>C, NM_001394498.1:c.392A>C, NM_001394496.1:c.416A>C, XM_047433628.1:c.395A>C, NM_001394499.1:c.395A>C, NM_001394500.1:c.392A>C, NP_612359.2:p.Glu139Ala, XP_011540702.1:p.Glu84Ala, NP_001182682.1:p.Glu132Ala, NP_001182681.1:p.Glu131Ala, XP_024306454.1:p.Glu131Ala, NP_001381426.1:p.Glu132Ala, NP_001381427.1:p.Glu131Ala, NP_001381425.1:p.Glu139Ala, XP_047289584.1:p.Glu132Ala, NP_001381428.1:p.Glu132Ala, NP_001381429.1:p.Glu131Ala

Select item 14643235077.

rs1464323507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6633050 (GRCh38)
1:6693110 (GRCh37)
Canonical SPDI:: NC_000001.11:6633049:C:T
Gene:: THAP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.6633050C>T, NC_000001.10:g.6693110C>T, XM_011542400.3:c.549C>T, XM_011542400.2:c.549C>T, XM_011542400.1:c.549C>T, NM_001195753.2:c.693C>T, NM_001195753.1:c.693C>T, NM_001195752.2:c.690C>T, NM_001195752.1:c.690C>T, XM_024450686.2:c.*128C>T, XM_024450686.1:c.*128C>T, NM_001394496.1:c.714C>T, XM_047433628.1:c.*128C>T, NM_001394499.1:c.*128C>T, NM_001394500.1:c.*128C>T

Select item 14610602338.

rs1461060233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:6632995 (GRCh38)
1:6693055 (GRCh37)
Canonical SPDI:: NC_000001.11:6632994:T:C
Gene:: THAP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.6632995T>C, NC_000001.10:g.6693055T>C, XM_011542400.3:c.494T>C, XM_011542400.2:c.494T>C, XM_011542400.1:c.494T>C, NM_001195753.2:c.638T>C, NM_001195753.1:c.638T>C, NM_001195752.2:c.635T>C, NM_001195752.1:c.635T>C, XM_024450686.2:c.*73T>C, XM_024450686.1:c.*73T>C, NM_001394496.1:c.659T>C, XM_047433628.1:c.*73T>C, NM_001394499.1:c.*73T>C, NM_001394500.1:c.*73T>C, XP_011540702.1:p.Met165Thr, NP_001182682.1:p.Met213Thr, NP_001182681.1:p.Met212Thr, NP_001381425.1:p.Met220Thr

Select item 14597505379.

rs1459750537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6633005 (GRCh38)
1:6693065 (GRCh37)
Canonical SPDI:: NC_000001.11:6633004:G:A
Gene:: THAP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.6633005G>A, NC_000001.10:g.6693065G>A, XM_011542400.3:c.504G>A, XM_011542400.2:c.504G>A, XM_011542400.1:c.504G>A, NM_001195753.2:c.648G>A, NM_001195753.1:c.648G>A, NM_001195752.2:c.645G>A, NM_001195752.1:c.645G>A, XM_024450686.2:c.*83G>A, XM_024450686.1:c.*83G>A, NM_001394496.1:c.669G>A, XM_047433628.1:c.*83G>A, NM_001394499.1:c.*83G>A, NM_001394500.1:c.*83G>A, XP_011540702.1:p.Met168Ile, NP_001182682.1:p.Met216Ile, NP_001182681.1:p.Met215Ile, NP_001381425.1:p.Met223Ile

Select item 145793828410.

rs1457938284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:6632487 (GRCh38)
1:6692547 (GRCh37)
Canonical SPDI:: NC_000001.11:6632486:G:A,NC_000001.11:6632486:G:T
Gene:: THAP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6632487G>A, NC_000001.11:g.6632487G>T, NC_000001.10:g.6692547G>A, NC_000001.10:g.6692547G>T, NM_138350.4:c.451G>A, NM_138350.4:c.451G>T, NM_138350.3:c.451G>A, NM_138350.3:c.451G>T, XM_011542400.3:c.286G>A, XM_011542400.3:c.286G>T, XM_011542400.2:c.286G>A, XM_011542400.2:c.286G>T, XM_011542400.1:c.286G>A, XM_011542400.1:c.286G>T, NM_001195753.2:c.430G>A, NM_001195753.2:c.430G>T, NM_001195753.1:c.430G>A, NM_001195753.1:c.430G>T, NM_001195752.2:c.427G>A, NM_001195752.2:c.427G>T, NM_001195752.1:c.427G>A, NM_001195752.1:c.427G>T, XM_024450686.2:c.427G>A, XM_024450686.2:c.427G>T, XM_024450686.1:c.427G>A, XM_024450686.1:c.427G>T, NM_001394497.1:c.430G>A, NM_001394497.1:c.430G>T, NM_001394498.1:c.427G>A, NM_001394498.1:c.427G>T, NM_001394496.1:c.451G>A, NM_001394496.1:c.451G>T, XM_047433628.1:c.430G>A, XM_047433628.1:c.430G>T, NM_001394499.1:c.430G>A, NM_001394499.1:c.430G>T, NM_001394500.1:c.427G>A, NM_001394500.1:c.427G>T, NP_612359.2:p.Val151Ile, NP_612359.2:p.Val151Leu, XP_011540702.1:p.Val96Ile, XP_011540702.1:p.Val96Leu, NP_001182682.1:p.Val144Ile, NP_001182682.1:p.Val144Leu, NP_001182681.1:p.Val143Ile, NP_001182681.1:p.Val143Leu, XP_024306454.1:p.Val143Ile, XP_024306454.1:p.Val143Leu, NP_001381426.1:p.Val144Ile, NP_001381426.1:p.Val144Leu, NP_001381427.1:p.Val143Ile, NP_001381427.1:p.Val143Leu, NP_001381425.1:p.Val151Ile, NP_001381425.1:p.Val151Leu, XP_047289584.1:p.Val144Ile, XP_047289584.1:p.Val144Leu, NP_001381428.1:p.Val144Ile, NP_001381428.1:p.Val144Leu, NP_001381429.1:p.Val143Ile, NP_001381429.1:p.Val143Leu

Select item 145210142611.

rs1452101426 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:6632458 (GRCh38)
1:6692518 (GRCh37)
Canonical SPDI:: NC_000001.11:6632457:T:C
Gene:: THAP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6632458T>C, NC_000001.10:g.6692518T>C, NM_138350.4:c.422T>C, NM_138350.3:c.422T>C, XM_011542400.3:c.257T>C, XM_011542400.2:c.257T>C, XM_011542400.1:c.257T>C, NM_001195753.2:c.401T>C, NM_001195753.1:c.401T>C, NM_001195752.2:c.398T>C, NM_001195752.1:c.398T>C, XM_024450686.2:c.398T>C, XM_024450686.1:c.398T>C, NM_001394497.1:c.401T>C, NM_001394498.1:c.398T>C, NM_001394496.1:c.422T>C, XM_047433628.1:c.401T>C, NM_001394499.1:c.401T>C, NM_001394500.1:c.398T>C, NP_612359.2:p.Leu141Pro, XP_011540702.1:p.Leu86Pro, NP_001182682.1:p.Leu134Pro, NP_001182681.1:p.Leu133Pro, XP_024306454.1:p.Leu133Pro, NP_001381426.1:p.Leu134Pro, NP_001381427.1:p.Leu133Pro, NP_001381425.1:p.Leu141Pro, XP_047289584.1:p.Leu134Pro, NP_001381428.1:p.Leu134Pro, NP_001381429.1:p.Leu133Pro

Select item 143689973512.

rs1436899735 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:6628650 (GRCh38)
1:6688710 (GRCh37)
Canonical SPDI:: NC_000001.11:6628649:A:G
Gene:: THAP3 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.6628650A>G, NC_000001.10:g.6688710A>G, NM_138350.4:c.226A>G, NM_138350.3:c.226A>G, XM_011542400.3:c.-1A>G, XM_011542400.2:c.-1A>G, XM_011542400.1:c.-1A>G, NM_001195753.2:c.226A>G, NM_001195753.1:c.226A>G, NM_001195752.2:c.226A>G, NM_001195752.1:c.226A>G, XM_024450686.2:c.226A>G, XM_024450686.1:c.226A>G, NM_001394497.1:c.226A>G, NM_001394498.1:c.226A>G, NM_001394496.1:c.226A>G, XM_047433628.1:c.226A>G, NM_001394499.1:c.226A>G, NM_001394500.1:c.226A>G, NP_612359.2:p.Asn76Asp, NP_001182682.1:p.Asn76Asp, NP_001182681.1:p.Asn76Asp, XP_024306454.1:p.Asn76Asp, NP_001381426.1:p.Asn76Asp, NP_001381427.1:p.Asn76Asp, NP_001381425.1:p.Asn76Asp, XP_047289584.1:p.Asn76Asp, NP_001381428.1:p.Asn76Asp, NP_001381429.1:p.Asn76Asp

Select item 143530407513.

rs1435304075 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:6630305 (GRCh38)
1:6690365 (GRCh37)
Canonical SPDI:: NC_000001.11:6630304:A:C
Gene:: THAP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.6630305A>C, NC_000001.10:g.6690365A>C, NM_138350.4:c.285A>C, NM_138350.3:c.285A>C, XM_011542400.3:c.141A>C, XM_011542400.2:c.141A>C, XM_011542400.1:c.141A>C, NM_001195753.2:c.285A>C, NM_001195753.1:c.285A>C, NM_001195752.2:c.282A>C, NM_001195752.1:c.282A>C, XM_024450686.2:c.282A>C, XM_024450686.1:c.282A>C, NM_001394497.1:c.285A>C, NM_001394498.1:c.282A>C, NM_001394496.1:c.285A>C, XM_047433628.1:c.285A>C, NM_001394499.1:c.285A>C, NM_001394500.1:c.282A>C

Select item 143181373114.

rs1431813731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:6628545 (GRCh38)
1:6688605 (GRCh37)
Canonical SPDI:: NC_000001.11:6628544:A:G
Gene:: THAP3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.6628545A>G, NC_000001.10:g.6688605A>G, NM_138350.4:c.121A>G, NM_138350.3:c.121A>G, XM_011542400.3:c.-106A>G, NM_001195753.2:c.121A>G, NM_001195753.1:c.121A>G, NM_001195752.2:c.121A>G, NM_001195752.1:c.121A>G, XM_024450686.2:c.121A>G, XM_024450686.1:c.121A>G, NM_001394497.1:c.121A>G, NM_001394498.1:c.121A>G, NM_001394496.1:c.121A>G, XM_047433628.1:c.121A>G, NM_001394499.1:c.121A>G, NM_001394500.1:c.121A>G, NP_612359.2:p.Ile41Val, NP_001182682.1:p.Ile41Val, NP_001182681.1:p.Ile41Val, XP_024306454.1:p.Ile41Val, NP_001381426.1:p.Ile41Val, NP_001381427.1:p.Ile41Val, NP_001381425.1:p.Ile41Val, XP_047289584.1:p.Ile41Val, NP_001381428.1:p.Ile41Val, NP_001381429.1:p.Ile41Val

Select item 143115185215.

rs1431151852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:6632929 (GRCh38)
1:6692989 (GRCh37)
Canonical SPDI:: NC_000001.11:6632928:A:C,NC_000001.11:6632928:A:G
Gene:: THAP3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6632929A>C, NC_000001.11:g.6632929A>G, NC_000001.10:g.6692989A>C, NC_000001.10:g.6692989A>G, XM_011542400.3:c.428A>C, XM_011542400.3:c.428A>G, XM_011542400.2:c.428A>C, XM_011542400.2:c.428A>G, XM_011542400.1:c.428A>C, XM_011542400.1:c.428A>G, NM_001195753.2:c.572A>C, NM_001195753.2:c.572A>G, NM_001195753.1:c.572A>C, NM_001195753.1:c.572A>G, NM_001195752.2:c.569A>C, NM_001195752.2:c.569A>G, NM_001195752.1:c.569A>C, NM_001195752.1:c.569A>G, XM_024450686.2:c.*7A>C, XM_024450686.2:c.*7A>G, XM_024450686.1:c.*7A>C, XM_024450686.1:c.*7A>G, NM_001394496.1:c.593A>C, NM_001394496.1:c.593A>G, XM_047433628.1:c.*7A>C, XM_047433628.1:c.*7A>G, NM_001394499.1:c.*7A>C, NM_001394499.1:c.*7A>G, NM_001394500.1:c.*7A>C, NM_001394500.1:c.*7A>G, XP_011540702.1:p.Lys143Thr, XP_011540702.1:p.Lys143Arg, NP_001182682.1:p.Lys191Thr, NP_001182682.1:p.Lys191Arg, NP_001182681.1:p.Lys190Thr, NP_001182681.1:p.Lys190Arg, NP_001381425.1:p.Lys198Thr, NP_001381425.1:p.Lys198Arg

Select item 142495886916.

rs1424958869 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:6628686 (GRCh38)
1:6688747 (GRCh37)
Canonical SPDI:: NC_000001.11:6628686:C:CC
Gene:: THAP3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.6628687dup, NC_000001.10:g.6688747dup, NM_138350.4:c.263dup, NM_138350.3:c.263dup, XM_011542400.3:c.37dup, XM_011542400.2:c.37dup, XM_011542400.1:c.37dup, NM_001195753.2:c.263dup, NM_001195753.1:c.263dup, NM_001195752.2:c.263dup, NM_001195752.1:c.263dup, XM_024450686.2:c.263dup, XM_024450686.1:c.263dup, NM_001394497.1:c.263dup, NM_001394498.1:c.263dup, NM_001394496.1:c.263dup, XM_047433628.1:c.263dup, NM_001394499.1:c.263dup, NM_001394500.1:c.263dup, NP_612359.2:p.Gln89fs, XP_011540702.1:p.His13fs, NP_001182682.1:p.Gln89fs, NP_001182681.1:p.Gln89fs, XP_024306454.1:p.Gln89fs, NP_001381426.1:p.Gln89fs, NP_001381427.1:p.Gln89fs, NP_001381425.1:p.Gln89fs, XP_047289584.1:p.Gln89fs, NP_001381428.1:p.Gln89fs, NP_001381429.1:p.Gln89fs

Select item 142493615917.

rs1424936159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:6628526 (GRCh38)
1:6688586 (GRCh37)
Canonical SPDI:: NC_000001.11:6628525:G:A,NC_000001.11:6628525:G:T
Gene:: THAP3 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.6628526G>A, NC_000001.11:g.6628526G>T, NC_000001.10:g.6688586G>A, NC_000001.10:g.6688586G>T, NM_138350.4:c.102G>A, NM_138350.4:c.102G>T, NM_138350.3:c.102G>A, NM_138350.3:c.102G>T, XM_011542400.3:c.-125G>A, XM_011542400.3:c.-125G>T, NM_001195753.2:c.102G>A, NM_001195753.2:c.102G>T, NM_001195753.1:c.102G>A, NM_001195753.1:c.102G>T, NM_001195752.2:c.102G>A, NM_001195752.2:c.102G>T, NM_001195752.1:c.102G>A, NM_001195752.1:c.102G>T, XM_024450686.2:c.102G>A, XM_024450686.2:c.102G>T, XM_024450686.1:c.102G>A, XM_024450686.1:c.102G>T, NM_001394497.1:c.102G>A, NM_001394497.1:c.102G>T, NM_001394498.1:c.102G>A, NM_001394498.1:c.102G>T, NM_001394496.1:c.102G>A, NM_001394496.1:c.102G>T, XM_047433628.1:c.102G>A, XM_047433628.1:c.102G>T, NM_001394499.1:c.102G>A, NM_001394499.1:c.102G>T, NM_001394500.1:c.102G>A, NM_001394500.1:c.102G>T

Select item 142333859318.

rs1423338593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:6633047 (GRCh38)
1:6693107 (GRCh37)
Canonical SPDI:: NC_000001.11:6633046:G:C,NC_000001.11:6633046:G:T
Gene:: THAP3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6633047G>C, NC_000001.11:g.6633047G>T, NC_000001.10:g.6693107G>C, NC_000001.10:g.6693107G>T, XM_011542400.3:c.546G>C, XM_011542400.3:c.546G>T, XM_011542400.2:c.546G>C, XM_011542400.2:c.546G>T, XM_011542400.1:c.546G>C, XM_011542400.1:c.546G>T, NM_001195753.2:c.690G>C, NM_001195753.2:c.690G>T, NM_001195753.1:c.690G>C, NM_001195753.1:c.690G>T, NM_001195752.2:c.687G>C, NM_001195752.2:c.687G>T, NM_001195752.1:c.687G>C, NM_001195752.1:c.687G>T, XM_024450686.2:c.*125G>C, XM_024450686.2:c.*125G>T, XM_024450686.1:c.*125G>C, XM_024450686.1:c.*125G>T, NM_001394496.1:c.711G>C, NM_001394496.1:c.711G>T, XM_047433628.1:c.*125G>C, XM_047433628.1:c.*125G>T, NM_001394499.1:c.*125G>C, NM_001394499.1:c.*125G>T, NM_001394500.1:c.*125G>C, NM_001394500.1:c.*125G>T, XP_011540702.1:p.Gln182His, XP_011540702.1:p.Gln182His, NP_001182682.1:p.Gln230His, NP_001182682.1:p.Gln230His, NP_001182681.1:p.Gln229His, NP_001182681.1:p.Gln229His, NP_001381425.1:p.Gln237His, NP_001381425.1:p.Gln237His

Select item 142303364319.

rs1423033643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:6628533 (GRCh38)
1:6688593 (GRCh37)
Canonical SPDI:: NC_000001.11:6628532:T:C
Gene:: THAP3 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6628533T>C, NC_000001.10:g.6688593T>C, NM_138350.4:c.109T>C, NM_138350.3:c.109T>C, XM_011542400.3:c.-118T>C, NM_001195753.2:c.109T>C, NM_001195753.1:c.109T>C, NM_001195752.2:c.109T>C, NM_001195752.1:c.109T>C, XM_024450686.2:c.109T>C, XM_024450686.1:c.109T>C, NM_001394497.1:c.109T>C, NM_001394498.1:c.109T>C, NM_001394496.1:c.109T>C, XM_047433628.1:c.109T>C, NM_001394499.1:c.109T>C, NM_001394500.1:c.109T>C, NP_612359.2:p.Trp37Arg, NP_001182682.1:p.Trp37Arg, NP_001182681.1:p.Trp37Arg, XP_024306454.1:p.Trp37Arg, NP_001381426.1:p.Trp37Arg, NP_001381427.1:p.Trp37Arg, NP_001381425.1:p.Trp37Arg, XP_047289584.1:p.Trp37Arg, NP_001381428.1:p.Trp37Arg, NP_001381429.1:p.Trp37Arg

Select item 142027007720.

rs1420270077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:6632999 (GRCh38)
1:6693059 (GRCh37)
Canonical SPDI:: NC_000001.11:6632998:A:T
Gene:: THAP3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6632999A>T, NC_000001.10:g.6693059A>T, XM_011542400.3:c.498A>T, XM_011542400.2:c.498A>T, XM_011542400.1:c.498A>T, NM_001195753.2:c.642A>T, NM_001195753.1:c.642A>T, NM_001195752.2:c.639A>T, NM_001195752.1:c.639A>T, XM_024450686.2:c.*77A>T, XM_024450686.1:c.*77A>T, NM_001394496.1:c.663A>T, XM_047433628.1:c.*77A>T, NM_001394499.1:c.*77A>T, NM_001394500.1:c.*77A>T

dbSNP

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Result Filters

Validation Status

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Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 261

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