SNP Links for Protein (Select 24430137) - SNP

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Links from Protein

Items: 1 to 20 of 114

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Select item 14827603621.

rs1482760362 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:154478745 (GRCh38)
X:153707084 (GRCh37)
Canonical SPDI:: NC_000023.11:154478744:T:C
Gene:: LAGE3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.154478745T>C, NW_003871103.3:g.1912724T>C, NC_000023.10:g.153707084T>C, NM_006014.5:c.171A>G, NM_006014.4:c.171A>G, NM_006014.3:c.171A>G

Select item 14698202982.

rs1469820298 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:154478851 (GRCh38)
X:153707191 (GRCh37)
Canonical SPDI:: NC_000023.11:154478851:T:TT
Gene:: LAGE3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.154478852dup, NW_003871103.3:g.1912831dup, NC_000023.10:g.153707191dup, NM_006014.5:c.64dup, NM_006014.4:c.64dup, NM_006014.3:c.64dup, NP_006005.2:p.Ser22fs

Select item 14689291333.

rs1468929133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154478384 (GRCh38)
X:153706723 (GRCh37)
Canonical SPDI:: NC_000023.11:154478383:G:A
Gene:: LAGE3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.154478384G>A, NW_003871103.3:g.1912363G>A, NC_000023.10:g.153706723G>A, NM_006014.5:c.216C>T, NM_006014.4:c.216C>T, NM_006014.3:c.216C>T

Select item 14684750704.

rs1468475070 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:154478404 (GRCh38)
X:153706743 (GRCh37)
Canonical SPDI:: NC_000023.11:154478403:T:C
Gene:: LAGE3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154478404T>C, NW_003871103.3:g.1912383T>C, NC_000023.10:g.153706743T>C, NM_006014.5:c.196A>G, NM_006014.4:c.196A>G, NM_006014.3:c.196A>G, NP_006005.2:p.Ser66Gly

Select item 14635081975.

rs1463508197 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:154478805 (GRCh38)
X:153707144 (GRCh37)
Canonical SPDI:: NC_000023.11:154478804:A:C,NC_000023.11:154478804:A:G
Gene:: LAGE3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.00221/28 (TOMMO)
A=0.5/2 (Siberian)
HGVS:: NC_000023.11:g.154478805A>C, NC_000023.11:g.154478805A>G, NW_003871103.3:g.1912784A>C, NW_003871103.3:g.1912784A>G, NC_000023.10:g.153707144A>C, NC_000023.10:g.153707144A>G, NM_006014.5:c.111T>G, NM_006014.5:c.111T>C, NM_006014.4:c.111T>G, NM_006014.4:c.111T>C, NM_006014.3:c.111T>G, NM_006014.3:c.111T>C

Select item 14631243926.

rs1463124392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154478844 (GRCh38)
X:153707183 (GRCh37)
Canonical SPDI:: NC_000023.11:154478843:G:A
Gene:: LAGE3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.154478844G>A, NW_003871103.3:g.1912823G>A, NC_000023.10:g.153707183G>A, NM_006014.5:c.72C>T, NM_006014.4:c.72C>T, NM_006014.3:c.72C>T

Select item 14617423077.

rs1461742307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:154477976 (GRCh38)
X:153706315 (GRCh37)
Canonical SPDI:: NC_000023.11:154477975:T:C
Gene:: LAGE3 (Varview), PLXNA3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.154477976T>C, NW_003871103.3:g.1911955T>C, NC_000023.10:g.153706315T>C, NM_006014.5:c.400A>G, NM_006014.4:c.400A>G, NM_006014.3:c.400A>G, NP_006005.2:p.Met134Val

Select item 14553483838.

rs1455348383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:154477984 (GRCh38)
X:153706323 (GRCh37)
Canonical SPDI:: NC_000023.11:154477983:A:G
Gene:: LAGE3 (Varview), PLXNA3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154477984A>G, NW_003871103.3:g.1911963A>G, NC_000023.10:g.153706323A>G, NM_006014.5:c.392T>C, NM_006014.4:c.392T>C, NM_006014.3:c.392T>C, NP_006005.2:p.Val131Ala

Select item 14437305959.

rs1443730595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:154478877 (GRCh38)
X:153707216 (GRCh37)
Canonical SPDI:: NC_000023.11:154478876:G:C
Gene:: LAGE3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.154478877G>C, NW_003871103.3:g.1912856G>C, NC_000023.10:g.153707216G>C, NM_006014.5:c.39C>G, NM_006014.4:c.39C>G, NM_006014.3:c.39C>G, NP_006005.2:p.Asp13Glu

Select item 139284426410.

rs1392844264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154478879 (GRCh38)
X:153707218 (GRCh37)
Canonical SPDI:: NC_000023.11:154478878:C:T
Gene:: LAGE3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.154478879C>T, NW_003871103.3:g.1912858C>T, NC_000023.10:g.153707218C>T, NM_006014.5:c.37G>A, NM_006014.4:c.37G>A, NM_006014.3:c.37G>A, NP_006005.2:p.Asp13Asn

Select item 138900766911.

rs1389007669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:154478895 (GRCh38)
X:153707234 (GRCh37)
Canonical SPDI:: NC_000023.11:154478894:G:A,NC_000023.11:154478894:G:C
Gene:: LAGE3 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154478895G>A, NC_000023.11:g.154478895G>C, NW_003871103.3:g.1912874G>A, NW_003871103.3:g.1912874G>C, NC_000023.10:g.153707234G>A, NC_000023.10:g.153707234G>C, NM_006014.5:c.21C>T, NM_006014.5:c.21C>G, NM_006014.4:c.21C>T, NM_006014.4:c.21C>G, NM_006014.3:c.21C>T, NM_006014.3:c.21C>G, NP_006005.2:p.Asp7Glu

Select item 136452519912.

rs1364525199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154478867 (GRCh38)
X:153707206 (GRCh37)
Canonical SPDI:: NC_000023.11:154478866:C:T
Gene:: LAGE3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.154478867C>T, NW_003871103.3:g.1912846C>T, NC_000023.10:g.153707206C>T, NM_006014.5:c.49G>A, NM_006014.4:c.49G>A, NM_006014.3:c.49G>A, NP_006005.2:p.Gly17Ser

Select item 136299179113.

rs1362991791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:154478793 (GRCh38)
X:153707132 (GRCh37)
Canonical SPDI:: NC_000023.11:154478792:G:C
Gene:: LAGE3 (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154478793G>C, NW_003871103.3:g.1912772G>C, NC_000023.10:g.153707132G>C, NM_006014.5:c.123C>G, NM_006014.4:c.123C>G, NM_006014.3:c.123C>G, NP_006005.2:p.His41Gln

Select item 131461595714.

rs1314615957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154478767 (GRCh38)
X:153707106 (GRCh37)
Canonical SPDI:: NC_000023.11:154478766:G:A
Gene:: LAGE3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.154478767G>A, NW_003871103.3:g.1912746G>A, NC_000023.10:g.153707106G>A, NM_006014.5:c.149C>T, NM_006014.4:c.149C>T, NM_006014.3:c.149C>T, NP_006005.2:p.Ala50Val

Select item 130274658415.

rs1302746584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154478042 (GRCh38)
X:153706381 (GRCh37)
Canonical SPDI:: NC_000023.11:154478041:C:T
Gene:: LAGE3 (Varview), PLXNA3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000038/10 (TOPMED)
T=0.000057/6 (GnomAD)
HGVS:: NC_000023.11:g.154478042C>T, NW_003871103.3:g.1912021C>T, NC_000023.10:g.153706381C>T, NM_006014.5:c.334G>A, NM_006014.4:c.334G>A, NM_006014.3:c.334G>A, NP_006005.2:p.Asp112Asn

Select item 129794933216.

rs1297949332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154478864 (GRCh38)
X:153707203 (GRCh37)
Canonical SPDI:: NC_000023.11:154478863:G:A
Gene:: LAGE3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.154478864G>A, NW_003871103.3:g.1912843G>A, NC_000023.10:g.153707203G>A, NM_006014.5:c.52C>T, NM_006014.4:c.52C>T, NM_006014.3:c.52C>T, NP_006005.2:p.Arg18Trp

Select item 129125383317.

rs1291253833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:154478789 (GRCh38)
X:153707128 (GRCh37)
Canonical SPDI:: NC_000023.11:154478788:G:T
Gene:: LAGE3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154478789G>T, NW_003871103.3:g.1912768G>T, NC_000023.10:g.153707128G>T, NM_006014.5:c.127C>A, NM_006014.4:c.127C>A, NM_006014.3:c.127C>A, NP_006005.2:p.Pro43Thr

Select item 126738069318.

rs1267380693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154478770 (GRCh38)
X:153707109 (GRCh37)
Canonical SPDI:: NC_000023.11:154478769:G:A
Gene:: LAGE3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154478770G>A, NW_003871103.3:g.1912749G>A, NC_000023.10:g.153707109G>A, NM_006014.5:c.146C>T, NM_006014.4:c.146C>T, NM_006014.3:c.146C>T, NP_006005.2:p.Ala49Val

Select item 125290998919.

rs1252909989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: X:154478912 (GRCh38)
X:153707251 (GRCh37)
Canonical SPDI:: NC_000023.11:154478911:G:C,NC_000023.11:154478911:G:T
Gene:: LAGE3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/3 (GnomAD)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.154478912G>C, NC_000023.11:g.154478912G>T, NW_003871103.3:g.1912891G>C, NW_003871103.3:g.1912891G>T, NC_000023.10:g.153707251G>C, NC_000023.10:g.153707251G>T, NM_006014.5:c.4C>G, NM_006014.5:c.4C>A, NM_006014.4:c.4C>G, NM_006014.4:c.4C>A, NM_006014.3:c.4C>G, NM_006014.3:c.4C>A, NP_006005.2:p.Arg2Gly

Select item 125249494620.

rs1252494946 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:154478004 (GRCh38)
X:153706343 (GRCh37)
Canonical SPDI:: NC_000023.11:154478003:A:T
Gene:: LAGE3 (Varview), PLXNA3 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.154478004A>T, NW_003871103.3:g.1911983A>T, NC_000023.10:g.153706343A>T, NM_006014.5:c.372T>A, NM_006014.4:c.372T>A, NM_006014.3:c.372T>A

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