SNP Links for Protein (Select 974005394) - SNP

Links from Protein

Items: 1 to 20 of 199

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Select item 14564329521.

rs1456432952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:115302104 (GRCh38)
X:114536669 (GRCh37)
Canonical SPDI:: NC_000023.11:115302103:T:C
Gene:: LUZP4 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.115302104T>C, NW_004070891.1:g.970906T>C, NG_021297.2:g.17384T>C, NM_016383.5:c.204T>C, NM_016383.4:c.204T>C, NM_016383.3:c.204T>C, NM_001318840.2:c.77T>C, NM_001318840.1:c.77T>C, NC_000023.10:g.114536669T>C, NP_001305769.1:p.Ile26Thr

Select item 14538484932.

rs1453848493 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:115306411 (GRCh38)
X:114540976 (GRCh37)
Canonical SPDI:: NC_000023.11:115306410:T:C
Gene:: LUZP4 (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=0.000005/1 (GnomAD_exomes)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.115306411T>C, NW_004070891.1:g.975213T>C, NG_021297.2:g.21691T>C, NM_016383.5:c.549T>C, NM_016383.4:c.549T>C, NM_016383.3:c.549T>C, NM_001318840.2:c.303T>C, NM_001318840.1:c.303T>C, NC_000023.10:g.114540976T>C

Select item 14487005563.

rs1448700556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:115306347 (GRCh38)
X:114540912 (GRCh37)
Canonical SPDI:: NC_000023.11:115306346:C:G
Gene:: LUZP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.115306347C>G, NW_004070891.1:g.975149C>G, NG_021297.2:g.21627C>G, NM_016383.5:c.485C>G, NM_016383.4:c.485C>G, NM_016383.3:c.485C>G, NM_001318840.2:c.239C>G, NM_001318840.1:c.239C>G, NC_000023.10:g.114540912C>G, NP_057467.1:p.Ser162Cys, NP_001305769.1:p.Ser80Cys

Select item 14452997314.

rs1445299731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: X:115306514 (GRCh38)
X:114541079 (GRCh37)
Canonical SPDI:: NC_000023.11:115306513:T:A,NC_000023.11:115306513:T:G
Gene:: LUZP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.115306514T>A, NC_000023.11:g.115306514T>G, NW_004070891.1:g.975316T>A, NW_004070891.1:g.975316T>G, NG_021297.2:g.21794T>A, NG_021297.2:g.21794T>G, NM_016383.5:c.652T>A, NM_016383.5:c.652T>G, NM_016383.4:c.652T>A, NM_016383.4:c.652T>G, NM_016383.3:c.652T>A, NM_016383.3:c.652T>G, NM_001318840.2:c.406T>A, NM_001318840.2:c.406T>G, NM_001318840.1:c.406T>A, NM_001318840.1:c.406T>G, NC_000023.10:g.114541079T>A, NC_000023.10:g.114541079T>G, NP_057467.1:p.Ser218Thr, NP_057467.1:p.Ser218Ala, NP_001305769.1:p.Ser136Thr, NP_001305769.1:p.Ser136Ala

Select item 14357387315.

rs1435738731 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAG>- [Show Flanks]
Chromosome:: X:115306733 (GRCh38)
X:114541298 (GRCh37)
Canonical SPDI:: NC_000023.11:115306728:TCAGTCAG:TCAG
Gene:: LUZP4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCAGTCAG=0.000071/1 (ALFA)
-=0.00001/1 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.115306729TCAG[1], NW_004070891.1:g.975531TCAG[1], NG_021297.2:g.22009TCAG[1], NM_016383.5:c.871_874del, NM_016383.4:c.871_874del, NM_016383.3:c.871_874del, NM_001318840.2:c.625_628del, NM_001318840.1:c.625_628del, NC_000023.10:g.114541294TCAG[1], NP_057467.1:p.Ser291fs, NP_001305769.1:p.Ser209fs

Select item 14311073176.

rs1431107317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:115306522 (GRCh38)
X:114541087 (GRCh37)
Canonical SPDI:: NC_000023.11:115306521:T:C
Gene:: LUZP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.115306522T>C, NW_004070891.1:g.975324T>C, NG_021297.2:g.21802T>C, NM_016383.5:c.660T>C, NM_016383.4:c.660T>C, NM_016383.3:c.660T>C, NM_001318840.2:c.414T>C, NM_001318840.1:c.414T>C, NC_000023.10:g.114541087T>C

Select item 14155525427.

rs1415552542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:115302068 (GRCh38)
X:114536633 (GRCh37)
Canonical SPDI:: NC_000023.11:115302067:A:G
Gene:: LUZP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.115302068A>G, NW_004070891.1:g.970870A>G, NG_021297.2:g.17348A>G, NM_016383.5:c.168A>G, NM_016383.4:c.168A>G, NM_016383.3:c.168A>G, NM_001318840.2:c.41A>G, NM_001318840.1:c.41A>G, NC_000023.10:g.114536633A>G, NP_001305769.1:p.Lys14Arg

Select item 14124497628.

rs1412449762 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:115306448 (GRCh38)
X:114541013 (GRCh37)
Canonical SPDI:: NC_000023.11:115306447:A:C
Gene:: LUZP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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.115306448A>C, NW_004070891.1:g.975250A>C, NG_021297.2:g.21728A>C, NM_016383.5:c.586A>C, NM_016383.4:c.586A>C, NM_016383.3:c.586A>C, NM_001318840.2:c.340A>C, NM_001318840.1:c.340A>C, NC_000023.10:g.114541013A>C

Select item 14088477169.

rs1408847716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:115306412 (GRCh38)
X:114540977 (GRCh37)
Canonical SPDI:: NC_000023.11:115306411:C:A
Gene:: LUZP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.115306412C>A, NW_004070891.1:g.975214C>A, NG_021297.2:g.21692C>A, NM_016383.5:c.550C>A, NM_016383.4:c.550C>A, NM_016383.3:c.550C>A, NM_001318840.2:c.304C>A, NM_001318840.1:c.304C>A, NC_000023.10:g.114540977C>A, NP_057467.1:p.His184Asn, NP_001305769.1:p.His102Asn

Select item 140542945210.

rs1405429452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:115306644 (GRCh38)
X:114541209 (GRCh37)
Canonical SPDI:: NC_000023.11:115306643:C:T
Gene:: LUZP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.115306644C>T, NW_004070891.1:g.975446C>T, NG_021297.2:g.21924C>T, NM_016383.5:c.782C>T, NM_016383.4:c.782C>T, NM_016383.3:c.782C>T, NM_001318840.2:c.536C>T, NM_001318840.1:c.536C>T, NC_000023.10:g.114541209C>T, NP_057467.1:p.Ala261Val, NP_001305769.1:p.Ala179Val

Select item 140454940411.

rs1404549404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:115306658 (GRCh38)
X:114541223 (GRCh37)
Canonical SPDI:: NC_000023.11:115306657:C:G,NC_000023.11:115306657:C:T
Gene:: LUZP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000005/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.115306658C>G, NC_000023.11:g.115306658C>T, NW_004070891.1:g.975460C>G, NW_004070891.1:g.975460C>T, NG_021297.2:g.21938C>G, NG_021297.2:g.21938C>T, NM_016383.5:c.796C>G, NM_016383.5:c.796C>T, NM_016383.4:c.796C>G, NM_016383.4:c.796C>T, NM_016383.3:c.796C>G, NM_016383.3:c.796C>T, NM_001318840.2:c.550C>G, NM_001318840.2:c.550C>T, NM_001318840.1:c.550C>G, NM_001318840.1:c.550C>T, NC_000023.10:g.114541223C>G, NC_000023.10:g.114541223C>T, NP_057467.1:p.Leu266Val, NP_057467.1:p.Leu266Phe, NP_001305769.1:p.Leu184Val, NP_001305769.1:p.Leu184Phe

Select item 140083250912.

rs1400832509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:115306459 (GRCh38)
X:114541024 (GRCh37)
Canonical SPDI:: NC_000023.11:115306458:T:C
Gene:: LUZP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.115306459T>C, NW_004070891.1:g.975261T>C, NG_021297.2:g.21739T>C, NM_016383.5:c.597T>C, NM_016383.4:c.597T>C, NM_016383.3:c.597T>C, NM_001318840.2:c.351T>C, NM_001318840.1:c.351T>C, NC_000023.10:g.114541024T>C

Select item 138541242113.

rs1385412421 has merged into rs782010540 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA [Show Flanks]
Chromosome:: X:115306510 (GRCh38)
X:114541075 (GRCh37)
Canonical SPDI:: NC_000023.11:115306506:AGAGAGA:AGA,NC_000023.11:115306506:AGAGAGA:AGAGA
Gene:: LUZP4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0.000054/1 (ALFA)
-=0.000029/3 (GnomAD)
-=0.000045/1 (TOMMO)
-=0.00049/5 (GoESP)
HGVS:: NC_000023.11:g.115306508GA[1], NC_000023.11:g.115306508GA[2], NW_004070891.1:g.975310GA[1], NW_004070891.1:g.975310GA[2], NG_021297.2:g.21788GA[1], NG_021297.2:g.21788GA[2], NM_016383.5:c.648_651del, NM_016383.5:c.650_651del, NM_016383.4:c.648_651del, NM_016383.4:c.650_651del, NM_016383.3:c.648_651del, NM_016383.3:c.650_651del, NM_001318840.2:c.402_405del, NM_001318840.2:c.404_405del, NM_001318840.1:c.402_405del, NM_001318840.1:c.404_405del, NC_000023.10:g.114541073GA[1], NC_000023.10:g.114541073GA[2], NP_057467.1:p.Glu216fs, NP_057467.1:p.Arg217fs, NP_001305769.1:p.Glu134fs, NP_001305769.1:p.Arg135fs

Select item 138447232714.

rs1384472327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:115306262 (GRCh38)
X:114540827 (GRCh37)
Canonical SPDI:: NC_000023.11:115306261:G:A
Gene:: LUZP4 (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.115306262G>A, NW_004070891.1:g.975064G>A, NG_021297.2:g.21542G>A, NM_016383.5:c.400G>A, NM_016383.4:c.400G>A, NM_016383.3:c.400G>A, NM_001318840.2:c.154G>A, NM_001318840.1:c.154G>A, NC_000023.10:g.114540827G>A, NP_057467.1:p.Gly134Arg, NP_001305769.1:p.Gly52Arg

Select item 136225564215.

rs1362255642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:115306602 (GRCh38)
X:114541167 (GRCh37)
Canonical SPDI:: NC_000023.11:115306601:C:T
Gene:: LUZP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.115306602C>T, NW_004070891.1:g.975404C>T, NG_021297.2:g.21882C>T, NM_016383.5:c.740C>T, NM_016383.4:c.740C>T, NM_016383.3:c.740C>T, NM_001318840.2:c.494C>T, NM_001318840.1:c.494C>T, NC_000023.10:g.114541167C>T, NP_057467.1:p.Ala247Val, NP_001305769.1:p.Ala165Val

Select item 135255262216.

rs1352552622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:115306222 (GRCh38)
X:114540787 (GRCh37)
Canonical SPDI:: NC_000023.11:115306221:T:A
Gene:: LUZP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.115306222T>A, NW_004070891.1:g.975024T>A, NG_021297.2:g.21502T>A, NM_016383.5:c.360T>A, NM_016383.4:c.360T>A, NM_016383.3:c.360T>A, NM_001318840.2:c.114T>A, NM_001318840.1:c.114T>A, NC_000023.10:g.114540787T>A, NP_057467.1:p.Asn120Lys, NP_001305769.1:p.Asn38Lys

Select item 134806222517.

rs1348062225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:115306636 (GRCh38)
X:114541201 (GRCh37)
Canonical SPDI:: NC_000023.11:115306635:T:C
Gene:: LUZP4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.115306636T>C, NW_004070891.1:g.975438T>C, NG_021297.2:g.21916T>C, NM_016383.5:c.774T>C, NM_016383.4:c.774T>C, NM_016383.3:c.774T>C, NM_001318840.2:c.528T>C, NM_001318840.1:c.528T>C, NC_000023.10:g.114541201T>C

Select item 134553784918.

rs1345537849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:115306732 (GRCh38)
X:114541297 (GRCh37)
Canonical SPDI:: NC_000023.11:115306731:G:C
Gene:: LUZP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.115306732G>C, NW_004070891.1:g.975534G>C, NG_021297.2:g.22012G>C, NM_016383.5:c.870G>C, NM_016383.4:c.870G>C, NM_016383.3:c.870G>C, NM_001318840.2:c.624G>C, NM_001318840.1:c.624G>C, NC_000023.10:g.114541297G>C, NP_057467.1:p.Gln290His, NP_001305769.1:p.Gln208His

Select item 134437345619.

rs1344373456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:115306389 (GRCh38)
X:114540954 (GRCh37)
Canonical SPDI:: NC_000023.11:115306388:C:G
Gene:: LUZP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.115306389C>G, NW_004070891.1:g.975191C>G, NG_021297.2:g.21669C>G, NM_016383.5:c.527C>G, NM_016383.4:c.527C>G, NM_016383.3:c.527C>G, NM_001318840.2:c.281C>G, NM_001318840.1:c.281C>G, NC_000023.10:g.114540954C>G, NP_057467.1:p.Ser176Cys, NP_001305769.1:p.Ser94Cys

Select item 133396211120.

rs1333962111 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: X:115302050 (GRCh38)
X:114536615 (GRCh37)
Canonical SPDI:: NC_000023.11:115302047:AAAA:AA,NC_000023.11:115302047:AAAA:AAA
Gene:: LUZP4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.022244/227 (GoESP)
HGVS:: NC_000023.11:g.115302050_115302051del, NC_000023.11:g.115302051del, NW_004070891.1:g.970852_970853del, NW_004070891.1:g.970853del, NG_021297.2:g.17330_17331del, NG_021297.2:g.17331del, NM_016383.5:c.150_151del, NM_016383.5:c.151del, NM_016383.4:c.150_151del, NM_016383.4:c.151del, NM_016383.3:c.150_151del, NM_016383.3:c.151del, NM_001318840.2:c.23_24del, NM_001318840.2:c.24del, NM_001318840.1:c.23_24del, NM_001318840.1:c.24del, NC_000023.10:g.114536615_114536616del, NC_000023.10:g.114536616del, NP_057467.1:p.Arg51fs, NP_057467.1:p.Arg51fs, NP_001305769.1:p.Lys8fs, NP_001305769.1:p.Asp9fs

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