SNP Links for Protein (Select 4505085) - SNP

Links from Protein

Items: 1 to 20 of 244

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Select item 14815729101.

rs1481572910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:30242238 (GRCh38)
X:30260355 (GRCh37)
Canonical SPDI:: NC_000023.11:30242237:A:C
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_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.30242238A>C, NC_000023.10:g.30260355A>C, NG_016336.1:g.3508A>C, NG_015870.1:g.5299A>C, NM_002367.4:c.103A>C, NM_002367.3:c.103A>C, NP_002358.1:p.Lys35Gln

Select item 14802577122.

rs1480257712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:30242809 (GRCh38)
X:30260926 (GRCh37)
Canonical SPDI:: NC_000023.11:30242808:A:G
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.30242809A>G, NC_000023.10:g.30260926A>G, NG_016336.1:g.4079A>G, NG_015870.1:g.5870A>G, NM_002367.4:c.674A>G, NM_002367.3:c.674A>G, NP_002358.1:p.Asn225Ser

Select item 14764329963.

rs1476432996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:30242689 (GRCh38)
X:30260806 (GRCh37)
Canonical SPDI:: NC_000023.11:30242688:A:G
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.30242689A>G, NC_000023.10:g.30260806A>G, NG_016336.1:g.3959A>G, NG_015870.1:g.5750A>G, NM_002367.4:c.554A>G, NM_002367.3:c.554A>G, NP_002358.1:p.Asn185Ser

Select item 14743217174.

rs1474321717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:30242797 (GRCh38)
X:30260914 (GRCh37)
Canonical SPDI:: NC_000023.11:30242796:G:T
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.30242797G>T, NC_000023.10:g.30260914G>T, NG_016336.1:g.4067G>T, NG_015870.1:g.5858G>T, NM_002367.4:c.662G>T, NM_002367.3:c.662G>T, NP_002358.1:p.Trp221Leu

Select item 14701845915.

rs1470184591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:30243148 (GRCh38)
X:30261265 (GRCh37)
Canonical SPDI:: NC_000023.11:30243147:C:A
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000023.11:g.30243148C>A, NC_000023.10:g.30261265C>A, NG_016336.1:g.4418C>A, NG_015870.1:g.6209C>A, NM_002367.4:c.1013C>A, NM_002367.3:c.1013C>A, NP_002358.1:p.Thr338Lys

Select item 14700978556.

rs1470097855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:30242164 (GRCh38)
X:30260281 (GRCh37)
Canonical SPDI:: NC_000023.11:30242163:G:A
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD_exomes)
A=0.000019/2 (GnomAD)
A=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.30242164G>A, NC_000023.10:g.30260281G>A, NG_016336.1:g.3434G>A, NG_015870.1:g.5225G>A, NM_002367.4:c.29G>A, NM_002367.3:c.29G>A, NP_002358.1:p.Arg10His

Select item 14626860887.

rs1462686088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:30243069 (GRCh38)
X:30261186 (GRCh37)
Canonical SPDI:: NC_000023.11:30243068:G:A
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.30243069G>A, NC_000023.10:g.30261186G>A, NG_016336.1:g.4339G>A, NG_015870.1:g.6130G>A, NM_002367.4:c.934G>A, NM_002367.3:c.934G>A, NP_002358.1:p.Glu312Lys

Select item 14621501098.

rs1462150109 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:30242367 (GRCh38)
X:30260484 (GRCh37)
Canonical SPDI:: NC_000023.11:30242366:A:G
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.30242367A>G, NC_000023.10:g.30260484A>G, NG_016336.1:g.3637A>G, NG_015870.1:g.5428A>G, NM_002367.4:c.232A>G, NM_002367.3:c.232A>G, NP_002358.1:p.Thr78Ala

Select item 14620952229.

rs1462095222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:30242872 (GRCh38)
X:30260989 (GRCh37)
Canonical SPDI:: NC_000023.11:30242871:C:G,NC_000023.11:30242871:C:T
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.30242872C>G, NC_000023.11:g.30242872C>T, NC_000023.10:g.30260989C>G, NC_000023.10:g.30260989C>T, NG_016336.1:g.4142C>G, NG_016336.1:g.4142C>T, NG_015870.1:g.5933C>G, NG_015870.1:g.5933C>T, NM_002367.4:c.737C>G, NM_002367.4:c.737C>T, NM_002367.3:c.737C>G, NM_002367.3:c.737C>T, NP_002358.1:p.Thr246Ser, NP_002358.1:p.Thr246Ile

Select item 146174706910.

rs1461747069 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:30242203 (GRCh38)
X:30260320 (GRCh37)
Canonical SPDI:: NC_000023.11:30242202:A:C
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_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.30242203A>C, NC_000023.10:g.30260320A>C, NG_016336.1:g.3473A>C, NG_015870.1:g.5264A>C, NM_002367.4:c.68A>C, NM_002367.3:c.68A>C, NP_002358.1:p.Gln23Pro

Select item 144964297311.

rs1449642973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:30242640 (GRCh38)
X:30260757 (GRCh37)
Canonical SPDI:: NC_000023.11:30242639:G:A
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.30242640G>A, NC_000023.10:g.30260757G>A, NG_016336.1:g.3910G>A, NG_015870.1:g.5701G>A, NM_002367.4:c.505G>A, NM_002367.3:c.505G>A, NP_002358.1:p.Val169Ile

Select item 144644991412.

rs1446449914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:30242166 (GRCh38)
X:30260283 (GRCh37)
Canonical SPDI:: NC_000023.11:30242165:G:A
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.30242166G>A, NC_000023.10:g.30260283G>A, NG_016336.1:g.3436G>A, NG_015870.1:g.5227G>A, NM_002367.4:c.31G>A, NM_002367.3:c.31G>A, NP_002358.1:p.Ala11Thr

Select item 144252366713.

rs1442523667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:30243157 (GRCh38)
X:30261274 (GRCh37)
Canonical SPDI:: NC_000023.11:30243156:G:T
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.30243157G>T, NC_000023.10:g.30261274G>T, NG_016336.1:g.4427G>T, NG_015870.1:g.6218G>T, NM_002367.4:c.1022G>T, NM_002367.3:c.1022G>T, NP_002358.1:p.Ser341Ile

Select item 143923869514.

rs1439238695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:30242599 (GRCh38)
X:30260716 (GRCh37)
Canonical SPDI:: NC_000023.11:30242598:C:G
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.30242599C>G, NC_000023.10:g.30260716C>G, NG_016336.1:g.3869C>G, NG_015870.1:g.5660C>G, NM_002367.4:c.464C>G, NM_002367.3:c.464C>G, NP_002358.1:p.Ser155Cys

Select item 143915577615.

rs1439155776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:30242517 (GRCh38)
X:30260634 (GRCh37)
Canonical SPDI:: NC_000023.11:30242516:G:C
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.30242517G>C, NC_000023.10:g.30260634G>C, NG_016336.1:g.3787G>C, NG_015870.1:g.5578G>C, NM_002367.4:c.382G>C, NM_002367.3:c.382G>C, NP_002358.1:p.Glu128Gln

Select item 143875602016.

rs1438756020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:30243035 (GRCh38)
X:30261152 (GRCh37)
Canonical SPDI:: NC_000023.11:30243034:C:T
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.30243035C>T, NC_000023.10:g.30261152C>T, NG_016336.1:g.4305C>T, NG_015870.1:g.6096C>T, NM_002367.4:c.900C>T, NM_002367.3:c.900C>T

Select item 143712138117.

rs1437121381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:30242223 (GRCh38)
X:30260340 (GRCh37)
Canonical SPDI:: NC_000023.11:30242222:C:T
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.30242223C>T, NC_000023.10:g.30260340C>T, NG_016336.1:g.3493C>T, NG_015870.1:g.5284C>T, NM_002367.4:c.88C>T, NM_002367.3:c.88C>T, NP_002358.1:p.Pro30Ser

Select item 143548949618.

rs1435489496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:30242460 (GRCh38)
X:30260577 (GRCh37)
Canonical SPDI:: NC_000023.11:30242459:C:G,NC_000023.11:30242459:C:T
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.30242460C>G, NC_000023.11:g.30242460C>T, NC_000023.10:g.30260577C>G, NC_000023.10:g.30260577C>T, NG_016336.1:g.3730C>G, NG_016336.1:g.3730C>T, NG_015870.1:g.5521C>G, NG_015870.1:g.5521C>T, NM_002367.4:c.325C>G, NM_002367.4:c.325C>T, NM_002367.3:c.325C>G, NM_002367.3:c.325C>T, NP_002358.1:p.Leu109Val

Select item 143494093519.

rs1434940935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:30242701 (GRCh38)
X:30260818 (GRCh37)
Canonical SPDI:: NC_000023.11:30242700:A:G
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.30242701A>G, NC_000023.10:g.30260818A>G, NG_016336.1:g.3971A>G, NG_015870.1:g.5762A>G, NM_002367.4:c.566A>G, NM_002367.3:c.566A>G, NP_002358.1:p.Gln189Arg

Select item 142570516720.

rs1425705167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:30242392 (GRCh38)
X:30260509 (GRCh37)
Canonical SPDI:: NC_000023.11:30242391:G:A
Gene:: MAGEB1 (Varview), MAGEB4 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.30242392G>A, NC_000023.10:g.30260509G>A, NG_016336.1:g.3662G>A, NG_015870.1:g.5453G>A, NM_002367.4:c.257G>A, NM_002367.3:c.257G>A, NP_002358.1:p.Ser86Asn

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