SNP Links for Protein (Select 83367081) - SNP

Links from Protein

Items: 1 to 20 of 35

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Select item 7827619031.

rs782761903 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48410769 (GRCh38)
X:48270212 (GRCh37)
Canonical SPDI:: NC_000023.11:48410768:A:G
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (ExAC)
HGVS:: NC_000023.11:g.48410769A>G, NW_004070880.2:g.650198A>G, NC_000023.10:g.48270212A>G, NM_001034832.5:c.165T>C, NM_001034832.4:c.165T>C, NM_001034832.3:c.165T>C, NM_001040612.4:c.165T>C, NM_001040612.3:c.165T>C, NM_001040612.2:c.165T>C, XM_017029613.2:c.165T>C, XM_017029613.1:c.165T>C

Select item 7827492432.

rs782749243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:48410764 (GRCh38)
X:48270207 (GRCh37)
Canonical SPDI:: NC_000023.11:48410763:A:C,NC_000023.11:48410763:A:G
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.00001/1 (ExAC)
C=0.01519/41 (KOREAN)
HGVS:: NC_000023.11:g.48410764A>C, NC_000023.11:g.48410764A>G, NW_004070880.2:g.650193A>C, NW_004070880.2:g.650193A>G, NC_000023.10:g.48270207A>C, NC_000023.10:g.48270207A>G, NM_001034832.5:c.170T>G, NM_001034832.5:c.170T>C, NM_001034832.4:c.170T>G, NM_001034832.4:c.170T>C, NM_001034832.3:c.170T>G, NM_001034832.3:c.170T>C, NM_001040612.4:c.170T>G, NM_001040612.4:c.170T>C, NM_001040612.3:c.170T>G, NM_001040612.3:c.170T>C, NM_001040612.2:c.170T>G, NM_001040612.2:c.170T>C, XM_017029613.2:c.170T>G, XM_017029613.2:c.170T>C, XM_017029613.1:c.170T>G, XM_017029613.1:c.170T>C, NP_001030004.1:p.Val57Gly, NP_001030004.1:p.Val57Ala, NP_001035702.1:p.Val57Gly, NP_001035702.1:p.Val57Ala, XP_016885102.1:p.Val57Gly, XP_016885102.1:p.Val57Ala

Select item 7827172203.

rs782717220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48410064 (GRCh38)
X:48269507 (GRCh37)
Canonical SPDI:: NC_000023.11:48410063:A:G
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.00013/6 (GnomAD_exomes)
G=0.00017/2 (ExAC)
HGVS:: NC_000023.11:g.48410064A>G, NW_004070880.2:g.649493A>G, NC_000023.10:g.48269507A>G, NM_001034832.5:c.194T>C, NM_001034832.4:c.194T>C, NM_001034832.3:c.194T>C, NM_001040612.4:c.194T>C, NM_001040612.3:c.194T>C, NM_001040612.2:c.194T>C, XM_017029613.2:c.194T>C, XM_017029613.1:c.194T>C, NP_001030004.1:p.Val65Ala, NP_001035702.1:p.Val65Ala, XP_016885102.1:p.Val65Ala

Select item 7827094204.

rs782709420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48410795 (GRCh38)
X:48270238 (GRCh37)
Canonical SPDI:: NC_000023.11:48410794:C:T
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000012/1 (ExAC)
T=0.000018/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.48410795C>T, NW_004070880.2:g.650224C>T, NC_000023.10:g.48270238C>T, NM_001034832.5:c.139G>A, NM_001034832.4:c.139G>A, NM_001034832.3:c.139G>A, NM_001040612.4:c.139G>A, NM_001040612.3:c.139G>A, NM_001040612.2:c.139G>A, XM_017029613.2:c.139G>A, XM_017029613.1:c.139G>A, NP_001030004.1:p.Val47Ile, NP_001035702.1:p.Val47Ile, XP_016885102.1:p.Val47Ile

Select item 7826987955.

rs782698795 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: X:48410006 (GRCh38)
X:48269449 (GRCh37)
Canonical SPDI:: NC_000023.11:48410005:AAAA:AAA
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0./0 (ExAC)
HGVS:: NC_000023.11:g.48410009del, NW_004070880.2:g.649438del, NC_000023.10:g.48269452del, NM_001034832.5:c.252del, NM_001034832.4:c.252del, NM_001034832.3:c.252del, NM_001040612.4:c.252del, NM_001040612.3:c.252del, NM_001040612.2:c.252del, XM_017029613.2:c.252del, XM_017029613.1:c.252del, NP_001030004.1:p.Phe84fs, NP_001035702.1:p.Phe84fs, XP_016885102.1:p.Phe84fs

Select item 7826962226.

rs782696222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:48410044 (GRCh38)
X:48269487 (GRCh37)
Canonical SPDI:: NC_000023.11:48410043:G:A,NC_000023.11:48410043:G:C
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.00006/3 (GnomAD_exomes)
C=0.00026/1 (1000Genomes)
HGVS:: NC_000023.11:g.48410044G>A, NC_000023.11:g.48410044G>C, NW_004070880.2:g.649473G>A, NW_004070880.2:g.649473G>C, NC_000023.10:g.48269487G>A, NC_000023.10:g.48269487G>C, NM_001034832.5:c.214C>T, NM_001034832.5:c.214C>G, NM_001034832.4:c.214C>T, NM_001034832.4:c.214C>G, NM_001034832.3:c.214C>T, NM_001034832.3:c.214C>G, NM_001040612.4:c.214C>T, NM_001040612.4:c.214C>G, NM_001040612.3:c.214C>T, NM_001040612.3:c.214C>G, NM_001040612.2:c.214C>T, NM_001040612.2:c.214C>G, XM_017029613.2:c.214C>T, XM_017029613.2:c.214C>G, XM_017029613.1:c.214C>T, XM_017029613.1:c.214C>G, NP_001030004.1:p.Arg72Cys, NP_001030004.1:p.Arg72Gly, NP_001035702.1:p.Arg72Cys, NP_001035702.1:p.Arg72Gly, XP_016885102.1:p.Arg72Cys, XP_016885102.1:p.Arg72Gly

Select item 7826704027.

rs782670402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48410816 (GRCh38)
X:48270259 (GRCh37)
Canonical SPDI:: NC_000023.11:48410815:T:C
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.00011/9 (ExAC)
HGVS:: NC_000023.11:g.48410816T>C, NW_004070880.2:g.650245T>C, NC_000023.10:g.48270259T>C, NM_001034832.5:c.118A>G, NM_001034832.4:c.118A>G, NM_001034832.3:c.118A>G, NM_001040612.4:c.118A>G, NM_001040612.3:c.118A>G, NM_001040612.2:c.118A>G, XM_017029613.2:c.118A>G, XM_017029613.1:c.118A>G, NP_001030004.1:p.Met40Val, NP_001035702.1:p.Met40Val, XP_016885102.1:p.Met40Val

Select item 7826528188.

rs782652818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:48411335 (GRCh38)
X:48270777 (GRCh37)
Canonical SPDI:: NC_000023.11:48411334:T:A
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00067/5 (ALFA)
A=0./0 (ExAC)
A=0.00056/21 (GnomAD_exomes)
HGVS:: NC_000023.11:g.48411335T>A, NW_004070880.2:g.650764T>A, NC_000023.10:g.48270777T>A, NM_001034832.5:c.38A>T, NM_001034832.4:c.38A>T, NM_001034832.3:c.38A>T, NM_001040612.4:c.38A>T, NM_001040612.3:c.38A>T, NM_001040612.2:c.38A>T, XM_017029613.2:c.38A>T, XM_017029613.1:c.38A>T, NP_001030004.1:p.Asp13Val, NP_001035702.1:p.Asp13Val, XP_016885102.1:p.Asp13Val

Select item 7826205009.

rs782620500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48410831 (GRCh38)
X:48270274 (GRCh37)
Canonical SPDI:: NC_000023.11:48410830:T:C
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0./0 (ExAC)
HGVS:: NC_000023.11:g.48410831T>C, NW_004070880.2:g.650260T>C, NC_000023.10:g.48270274T>C, NM_001034832.5:c.103A>G, NM_001034832.4:c.103A>G, NM_001034832.3:c.103A>G, NM_001040612.4:c.103A>G, NM_001040612.3:c.103A>G, NM_001040612.2:c.103A>G, XM_017029613.2:c.103A>G, XM_017029613.1:c.103A>G, NP_001030004.1:p.Lys35Glu, NP_001035702.1:p.Lys35Glu, XP_016885102.1:p.Lys35Glu

Select item 78252396210.

rs782523962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48410782 (GRCh38)
X:48270225 (GRCh37)
Canonical SPDI:: NC_000023.11:48410781:A:G
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000006/1 (GnomAD_exomes)
G=0.000012/1 (ExAC)
HGVS:: NC_000023.11:g.48410782A>G, NW_004070880.2:g.650211A>G, NC_000023.10:g.48270225A>G, NM_001034832.5:c.152T>C, NM_001034832.4:c.152T>C, NM_001034832.3:c.152T>C, NM_001040612.4:c.152T>C, NM_001040612.3:c.152T>C, NM_001040612.2:c.152T>C, XM_017029613.2:c.152T>C, XM_017029613.1:c.152T>C, NP_001030004.1:p.Met51Thr, NP_001035702.1:p.Met51Thr, XP_016885102.1:p.Met51Thr

Select item 78250939211.

rs782509392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48410814 (GRCh38)
X:48270257 (GRCh37)
Canonical SPDI:: NC_000023.11:48410813:C:T
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/3 (ExAC)
HGVS:: NC_000023.11:g.48410814C>T, NW_004070880.2:g.650243C>T, NC_000023.10:g.48270257C>T, NM_001034832.5:c.120G>A, NM_001034832.4:c.120G>A, NM_001034832.3:c.120G>A, NM_001040612.4:c.120G>A, NM_001040612.3:c.120G>A, NM_001040612.2:c.120G>A, XM_017029613.2:c.120G>A, XM_017029613.1:c.120G>A, NP_001030004.1:p.Met40Ile, NP_001035702.1:p.Met40Ile, XP_016885102.1:p.Met40Ile

Select item 78248187512.

rs782481875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48410803 (GRCh38)
X:48270246 (GRCh37)
Canonical SPDI:: NC_000023.11:48410802:T:C
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000012/2 (GnomAD_exomes)
C=0.000024/2 (ExAC)
HGVS:: NC_000023.11:g.48410803T>C, NW_004070880.2:g.650232T>C, NC_000023.10:g.48270246T>C, NM_001034832.5:c.131A>G, NM_001034832.4:c.131A>G, NM_001034832.3:c.131A>G, NM_001040612.4:c.131A>G, NM_001040612.3:c.131A>G, NM_001040612.2:c.131A>G, XM_017029613.2:c.131A>G, XM_017029613.1:c.131A>G, NP_001030004.1:p.Glu44Gly, NP_001035702.1:p.Glu44Gly, XP_016885102.1:p.Glu44Gly

Select item 78246983113.

rs782469831 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48411332 (GRCh38)
X:48270774 (GRCh37)
Canonical SPDI:: NC_000023.11:48411331:T:C
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00066/5 (ALFA)
C=0./0 (ExAC)
C=0.00058/22 (GnomAD_exomes)
HGVS:: NC_000023.11:g.48411332T>C, NW_004070880.2:g.650761T>C, NC_000023.10:g.48270774T>C, NM_001034832.5:c.41A>G, NM_001034832.4:c.41A>G, NM_001034832.3:c.41A>G, NM_001040612.4:c.41A>G, NM_001040612.3:c.41A>G, NM_001040612.2:c.41A>G, XM_017029613.2:c.41A>G, XM_017029613.1:c.41A>G, NP_001030004.1:p.Asp14Gly, NP_001035702.1:p.Asp14Gly, XP_016885102.1:p.Asp14Gly

Select item 78239709514.

rs782397095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48410858 (GRCh38)
X:48270301 (GRCh37)
Canonical SPDI:: NC_000023.11:48410857:C:T
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000011/2 (GnomAD_exomes)
T=0.000035/3 (ExAC)
HGVS:: NC_000023.11:g.48410858C>T, NW_004070880.2:g.650287C>T, NC_000023.10:g.48270301C>T, NM_001034832.5:c.76G>A, NM_001034832.4:c.76G>A, NM_001034832.3:c.76G>A, NM_001040612.4:c.76G>A, NM_001040612.3:c.76G>A, NM_001040612.2:c.76G>A, XM_017029613.2:c.76G>A, XM_017029613.1:c.76G>A, NP_001030004.1:p.Asp26Asn, NP_001035702.1:p.Asp26Asn, XP_016885102.1:p.Asp26Asn

Select item 78234598715.

rs782345987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:48409996 (GRCh38)
X:48269439 (GRCh37)
Canonical SPDI:: NC_000023.11:48409995:G:A,NC_000023.11:48409995:G:T
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000023.11:g.48409996G>A, NC_000023.11:g.48409996G>T, NW_004070880.2:g.649425G>A, NW_004070880.2:g.649425G>T, NC_000023.10:g.48269439G>A, NC_000023.10:g.48269439G>T, NM_001034832.5:c.262C>T, NM_001034832.5:c.262C>A, NM_001034832.4:c.262C>T, NM_001034832.4:c.262C>A, NM_001034832.3:c.262C>T, NM_001034832.3:c.262C>A, NM_001040612.4:c.262C>T, NM_001040612.4:c.262C>A, NM_001040612.3:c.262C>T, NM_001040612.3:c.262C>A, NM_001040612.2:c.262C>T, NM_001040612.2:c.262C>A, XM_017029613.2:c.262C>T, XM_017029613.2:c.262C>A, XM_017029613.1:c.262C>T, XM_017029613.1:c.262C>A, NP_001030004.1:p.Arg88Ter, NP_001035702.1:p.Arg88Ter, XP_016885102.1:p.Arg88Ter

Select item 78231038116.

rs782310381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:48410829 (GRCh38)
X:48270272 (GRCh37)
Canonical SPDI:: NC_000023.11:48410828:T:G
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.00001/1 (ExAC)
HGVS:: NC_000023.11:g.48410829T>G, NW_004070880.2:g.650258T>G, NC_000023.10:g.48270272T>G, NM_001034832.5:c.105A>C, NM_001034832.4:c.105A>C, NM_001034832.3:c.105A>C, NM_001040612.4:c.105A>C, NM_001040612.3:c.105A>C, NM_001040612.2:c.105A>C, XM_017029613.2:c.105A>C, XM_017029613.1:c.105A>C, NP_001030004.1:p.Lys35Asn, NP_001035702.1:p.Lys35Asn, XP_016885102.1:p.Lys35Asn

Select item 78229910117.

rs782299101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48410024 (GRCh38)
X:48269467 (GRCh37)
Canonical SPDI:: NC_000023.11:48410023:G:A
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.00002/1 (GnomAD_exomes)
A=0.00008/1 (ExAC)
HGVS:: NC_000023.11:g.48410024G>A, NW_004070880.2:g.649453G>A, NC_000023.10:g.48269467G>A, NM_001034832.5:c.234C>T, NM_001034832.4:c.234C>T, NM_001034832.3:c.234C>T, NM_001040612.4:c.234C>T, NM_001040612.3:c.234C>T, NM_001040612.2:c.234C>T, XM_017029613.2:c.234C>T, XM_017029613.1:c.234C>T

Select item 78225407818.

rs782254078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:48411338 (GRCh38)
X:48270780 (GRCh37)
Canonical SPDI:: NC_000023.11:48411337:C:G
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00066/5 (ALFA)
G=0./0 (ExAC)
G=0.00061/23 (GnomAD_exomes)
HGVS:: NC_000023.11:g.48411338C>G, NW_004070880.2:g.650767C>G, NC_000023.10:g.48270780C>G, NM_001034832.5:c.35G>C, NM_001034832.4:c.35G>C, NM_001034832.3:c.35G>C, NM_001040612.4:c.35G>C, NM_001040612.3:c.35G>C, NM_001040612.2:c.35G>C, XM_017029613.2:c.35G>C, XM_017029613.1:c.35G>C, NP_001030004.1:p.Arg12Thr, NP_001035702.1:p.Arg12Thr, XP_016885102.1:p.Arg12Thr

Select item 78225235019.

rs782252350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:48409999 (GRCh38)
X:48269442 (GRCh37)
Canonical SPDI:: NC_000023.11:48409998:C:A,NC_000023.11:48409998:C:T
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.0001/1 (ExAC)
HGVS:: NC_000023.11:g.48409999C>A, NC_000023.11:g.48409999C>T, NW_004070880.2:g.649428C>A, NW_004070880.2:g.649428C>T, NC_000023.10:g.48269442C>A, NC_000023.10:g.48269442C>T, NM_001034832.5:c.259G>T, NM_001034832.5:c.259G>A, NM_001034832.4:c.259G>T, NM_001034832.4:c.259G>A, NM_001034832.3:c.259G>T, NM_001034832.3:c.259G>A, NM_001040612.4:c.259G>T, NM_001040612.4:c.259G>A, NM_001040612.3:c.259G>T, NM_001040612.3:c.259G>A, NM_001040612.2:c.259G>T, NM_001040612.2:c.259G>A, XM_017029613.2:c.259G>T, XM_017029613.2:c.259G>A, XM_017029613.1:c.259G>T, XM_017029613.1:c.259G>A, NP_001030004.1:p.Asp87Tyr, NP_001030004.1:p.Asp87Asn, NP_001035702.1:p.Asp87Tyr, NP_001035702.1:p.Asp87Asn, XP_016885102.1:p.Asp87Tyr, XP_016885102.1:p.Asp87Asn

Select item 78219653320.

rs782196533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:48410825 (GRCh38)
X:48270268 (GRCh37)
Canonical SPDI:: NC_000023.11:48410824:A:C
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.00041/34 (ExAC)
C=0.02919/84 (KOREAN)
HGVS:: NC_000023.11:g.48410825A>C, NW_004070880.2:g.650254A>C, NC_000023.10:g.48270268A>C, NM_001034832.5:c.109T>G, NM_001034832.4:c.109T>G, NM_001034832.3:c.109T>G, NM_001040612.4:c.109T>G, NM_001040612.3:c.109T>G, NM_001040612.2:c.109T>G, XM_017029613.2:c.109T>G, XM_017029613.1:c.109T>G, NP_001030004.1:p.Trp37Gly, NP_001035702.1:p.Trp37Gly, XP_016885102.1:p.Trp37Gly

dbSNP

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