SNP Links for Gene (Select 441519) - SNP

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Select item 14877328541.

rs1487732854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:135760399 (GRCh38)
X:134891279 (GRCh37)
Canonical SPDI:: NC_000023.11:135760398:G:A,NC_000023.11:135760398:G:C
Gene:: CT45A3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00017/2 (ALFA)
A=0.00113/107 (GnomAD)
A=0.00624/30 (1000Genomes)
HGVS:: NC_000023.11:g.135760399G>A, NC_000023.11:g.135760399G>C, NW_004070887.1:g.691542G>A, NW_004070887.1:g.691542G>C, NC_000023.10:g.134891279C>T, NC_000023.10:g.134891279C>G, NM_001370148.2:c.523C>T, NM_001370148.2:c.523C>G, NM_001370148.1:c.523C>T, NM_001370148.1:c.523C>G, NM_001017435.2:c.523C>T, NM_001017435.2:c.523C>G, NM_001017435.1:c.523C>T, NM_001017435.1:c.523C>G, NM_001370149.1:c.523C>T, NM_001370149.1:c.523C>G, NM_001017436.1:c.523C>T, NM_001017436.1:c.523C>G, NP_001357077.1:p.Arg175Ter, NP_001357077.1:p.Arg175Gly, NP_001017435.1:p.Arg175Ter, NP_001017435.1:p.Arg175Gly, NP_001357078.1:p.Arg175Ter, NP_001357078.1:p.Arg175Gly

Select item 14872101502.

rs1487210150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135760928 (GRCh38)
X:134890750 (GRCh37)
Canonical SPDI:: NC_000023.11:135760927:C:T
Gene:: CT45A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00017/2 (ALFA)
T=0.00053/23 (GnomAD)
T=0.00166/8 (1000Genomes)
HGVS:: NC_000023.11:g.135760928C>T, NW_004070887.1:g.692071C>T, NC_000023.10:g.134890750G>A

Select item 14867532303.

rs1486753230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:135762919 (GRCh38)
X:134888757 (GRCh37)
Canonical SPDI:: NC_000023.11:135762918:C:G,NC_000023.11:135762918:C:T
Gene:: CT45A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00003/2 (GnomAD)
T=0.15512/3410 (TOMMO)
HGVS:: NC_000023.11:g.135762919C>G, NC_000023.11:g.135762919C>T, NW_004070887.1:g.694062C>G, NW_004070887.1:g.694062C>T, NC_000023.10:g.134888757A>G, NC_000023.10:g.134888757A>C

Select item 14858232234.

rs1485823223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:135760161 (GRCh38)
X:134891517 (GRCh37)
Canonical SPDI:: NC_000023.11:135760160:G:A,NC_000023.11:135760160:G:T
Gene:: CT45A3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/3 (GnomAD)
T=0.00042/2 (1000Genomes)
T=0.00055/12 (TOMMO)
HGVS:: NC_000023.11:g.135760161G>A, NC_000023.11:g.135760161G>T, NW_004070887.1:g.691304G>A, NW_004070887.1:g.691304G>T, NC_000023.10:g.134891517C>T, NC_000023.10:g.134891517C>A, NM_001370148.2:c.*191C>T, NM_001370148.2:c.*191C>A, NM_001370148.1:c.*191C>T, NM_001370148.1:c.*191C>A, NM_001017435.2:c.*191C>T, NM_001017435.2:c.*191C>A, NM_001017435.1:c.*191C>T, NM_001017435.1:c.*191C>A, NM_001370149.1:c.*191C>T, NM_001370149.1:c.*191C>A, NM_001017436.1:c.*191C>T, NM_001017436.1:c.*191C>A

Select item 14857657285.

rs1485765728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135766016 (GRCh38)
X:134885659 (GRCh37)
Canonical SPDI:: NC_000023.11:135766015:C:T
Gene:: CT45A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00109/1 (GnomAD)
T=0.00153/15 (TOMMO)
HGVS:: NC_000023.11:g.135766016C>T, NW_004070887.1:g.697159C>T, NC_000023.10:g.134885659G>A

Select item 14824205396.

rs1482420539 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135762807 (GRCh38)
X:134888870 (GRCh37)
Canonical SPDI:: NC_000023.11:135762806:T:C
Gene:: CT45A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00017/2 (ALFA)
C=0.00027/14 (GnomAD)
HGVS:: NC_000023.11:g.135762807T>C, NW_004070887.1:g.693950T>C, NC_000023.10:g.134888870A>G

Select item 14808311167.

rs1480831116 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135762506 (GRCh38)
X:134889171 (GRCh37)
Canonical SPDI:: NC_000023.11:135762505:T:C
Gene:: CT45A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.135762506T>C, NW_004070887.1:g.693649T>C, NC_000023.10:g.134889171A>G

Select item 14777822138.

rs1477782213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135759826 (GRCh38)
X:134891852 (GRCh37)
Canonical SPDI:: NC_000023.11:135759825:C:T
Gene:: CT45A3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.135759826C>T, NW_004070887.1:g.690969C>T, NC_000023.10:g.134891852G>A

Select item 14773168919.

rs1477316891 has merged into rs1261956510 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: X:135760882 (GRCh38)
X:134890789 (GRCh37)
Canonical SPDI:: NC_000023.11:135760881:AAAAAAAA:AAAAAAA,NC_000023.11:135760881:AAAAAAAA:AAAAAAAAA
Gene:: CT45A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.135760889del, NC_000023.11:g.135760889dup, NW_004070887.1:g.692032del, NW_004070887.1:g.692032dup, NC_000023.10:g.134890796del, NC_000023.10:g.134890796dup

Select item 147633765610.

rs1476337656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:135763255 (GRCh38)
X:134888421 (GRCh37)
Canonical SPDI:: NC_000023.11:135763254:C:G
Gene:: CT45A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00017/2 (ALFA)
G=0.00107/30 (GnomAD)
G=0.00208/10 (1000Genomes)
HGVS:: NC_000023.11:g.135763255C>G, NW_004070887.1:g.694398C>G, NC_000023.10:g.134888421G>C

Select item 147573850111.

rs1475738501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: X:135760362 (GRCh38)
X:134891316 (GRCh37)
Canonical SPDI:: NC_000023.11:135760361:C:A,NC_000023.11:135760361:C:G,NC_000023.11:135760361:C:T
Gene:: CT45A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.135760362C>A, NC_000023.11:g.135760362C>G, NC_000023.11:g.135760362C>T, NW_004070887.1:g.691505C>A, NW_004070887.1:g.691505C>G, NW_004070887.1:g.691505C>T, NC_000023.10:g.134891316G>T, NC_000023.10:g.134891316G>C, NC_000023.10:g.134891316G>A, NM_001370148.2:c.560G>T, NM_001370148.2:c.560G>C, NM_001370148.2:c.560G>A, NM_001370148.1:c.560G>T, NM_001370148.1:c.560G>C, NM_001370148.1:c.560G>A, NM_001017435.2:c.560G>T, NM_001017435.2:c.560G>C, NM_001017435.2:c.560G>A, NM_001017435.1:c.560G>T, NM_001017435.1:c.560G>C, NM_001017435.1:c.560G>A, NM_001370149.1:c.560G>T, NM_001370149.1:c.560G>C, NM_001370149.1:c.560G>A, NM_001017436.1:c.560G>T, NM_001017436.1:c.560G>C, NM_001017436.1:c.560G>A, NP_001357077.1:p.Arg187Leu, NP_001357077.1:p.Arg187Pro, NP_001357077.1:p.Arg187His, NP_001017435.1:p.Arg187Leu, NP_001017435.1:p.Arg187Pro, NP_001017435.1:p.Arg187His, NP_001357078.1:p.Arg187Leu, NP_001357078.1:p.Arg187Pro, NP_001357078.1:p.Arg187His

Select item 147535226512.

rs1475352265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135769416 (GRCh38)
X:134882286 (GRCh37)
Canonical SPDI:: NC_000023.11:135769415:G:A
Gene:: CT45A3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00868/103 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.31034/18 (KOREAN)
HGVS:: NC_000023.11:g.135769416G>A, NW_004070887.1:g.700559G>A, NC_000023.10:g.134882286C>T

Select item 147140473413.

rs1471404734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135760149 (GRCh38)
X:134891529 (GRCh37)
Canonical SPDI:: NC_000023.11:135760148:T:C
Gene:: CT45A3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.135760149T>C, NW_004070887.1:g.691292T>C, NC_000023.10:g.134891529A>G, NM_001370148.2:c.*203A>G, NM_001370148.1:c.*203A>G, NM_001017435.2:c.*203A>G, NM_001370149.1:c.*203A>G

Select item 147135882614.

rs1471358826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:135765988 (GRCh38)
X:134885687 (GRCh37)
Canonical SPDI:: NC_000023.11:135765987:G:C
Gene:: CT45A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00017/2 (ALFA)
HGVS:: NC_000023.11:g.135765988G>C, NW_004070887.1:g.697131G>C, NC_000023.10:g.134885687C>G

Select item 146980582315.

rs1469805823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:135762321 (GRCh38)
X:134889356 (GRCh37)
Canonical SPDI:: NC_000023.11:135762320:A:T
Gene:: CT45A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
T=0.00478/1 (GnomAD)
HGVS:: NC_000023.11:g.135762321A>T, NW_004070887.1:g.693464A>T, NC_000023.10:g.134889356T>A, NM_001370148.2:c.205T>A, NM_001370148.1:c.205T>A, NM_001017435.2:c.205T>A, NM_001017435.1:c.205T>A, NM_001370149.1:c.205T>A, NM_001017436.1:c.205T>A, NP_001357077.1:p.Leu69Met, NP_001017435.1:p.Leu69Met, NP_001357078.1:p.Leu69Met

Select item 146973328916.

rs1469733289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:135760955 (GRCh38)
X:134890723 (GRCh37)
Canonical SPDI:: NC_000023.11:135760954:G:A,NC_000023.11:135760954:G:T
Gene:: CT45A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00028/3 (ALFA)
A=0.14069/676 (1000Genomes)
T=0.2158/265 (TOMMO)
HGVS:: NC_000023.11:g.135760955G>A, NC_000023.11:g.135760955G>T, NW_004070887.1:g.692098G>A, NW_004070887.1:g.692098G>T, NC_000023.10:g.134890723C>T, NC_000023.10:g.134890723C>A

Select item 146901618017.

rs1469016180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:135765589 (GRCh38)
X:134886088 (GRCh37)
Canonical SPDI:: NC_000023.11:135765588:C:A
Gene:: CT45A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00483/77 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.00228/225 (GnomAD)
HGVS:: NC_000023.11:g.135765589C>A, NW_004070887.1:g.696732C>A, NC_000023.10:g.134886088G>T

Select item 146839975318.

rs1468399753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135763355 (GRCh38)
X:134888321 (GRCh37)
Canonical SPDI:: NC_000023.11:135763354:C:T
Gene:: CT45A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/2 (GnomAD)
HGVS:: NC_000023.11:g.135763355C>T, NW_004070887.1:g.694498C>T, NC_000023.10:g.134888321G>A

Select item 146542665619.

rs1465426656 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:135761750 (GRCh38)
X:134889928 (GRCh37)
Canonical SPDI:: NC_000023.11:135761749:A:C
Gene:: CT45A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.135761750A>C, NW_004070887.1:g.692893A>C, NC_000023.10:g.134889928T>G

Select item 146425045020.

rs1464250450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:135762758 (GRCh38)
X:134888919 (GRCh37)
Canonical SPDI:: NC_000023.11:135762757:A:C
Gene:: CT45A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.135762758A>C, NW_004070887.1:g.693901A>C, NC_000023.10:g.134888919T>G