SNP Links for Protein (Select 15811782) - SNP

Links from Protein

Items: 1 to 20 of 276

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Select item 14864138881.

rs1486413888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49122449 (GRCh38)
X:48978799 (GRCh37)
Canonical SPDI:: NC_000023.11:49122448:T:C
Gene:: GPKOW (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.49122449T>C, NW_004070880.2:g.1361878T>C, NG_021310.2:g.6294A>G, NM_015698.6:c.405A>G, NM_015698.5:c.405A>G, NM_015698.4:c.405A>G, NW_025791820.1:g.281400T>C, NC_000023.10:g.48978799T>C

Select item 14846221512.

rs1484622151 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:49122630 (GRCh38)
X:48978980 (GRCh37)
Canonical SPDI:: NC_000023.11:49122629:A:G
Gene:: GPKOW (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.49122630A>G, NW_004070880.2:g.1362059A>G, NG_021310.2:g.6113T>C, NM_015698.6:c.323T>C, NM_015698.5:c.323T>C, NM_015698.4:c.323T>C, NW_025791820.1:g.281581A>G, NC_000023.10:g.48978980A>G, NP_056513.2:p.Leu108Pro

Select item 14813946933.

rs1481394693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:49116276 (GRCh38)
X:48972630 (GRCh37)
Canonical SPDI:: NC_000023.11:49116275:C:G
Gene:: GPKOW (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.49116276C>G, NW_004070880.2:g.1355705C>G, NG_021310.2:g.12467G>C, NM_015698.6:c.961G>C, NM_015698.5:c.961G>C, NM_015698.4:c.961G>C, NW_025791820.1:g.275227C>G, NC_000023.10:g.48972630C>G, NP_056513.2:p.Glu321Gln

Select item 14641063834.

rs1464106383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49115737 (GRCh38)
X:48972091 (GRCh37)
Canonical SPDI:: NC_000023.11:49115736:C:T
Gene:: GPKOW (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000077/8 (GnomAD)
T=0.000083/22 (TOPMED)
HGVS:: NC_000023.11:g.49115737C>T, NW_004070880.2:g.1355166C>T, NG_021310.2:g.13006G>A, NM_015698.6:c.1199G>A, NM_015698.5:c.1199G>A, NM_015698.4:c.1199G>A, NW_025791820.1:g.274688C>T, NC_000023.10:g.48972091C>T, NP_056513.2:p.Arg400Gln

Select item 14625786325.

rs1462578632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49123707 (GRCh38)
X:48980057 (GRCh37)
Canonical SPDI:: NC_000023.11:49123706:C:T
Gene:: GPKOW (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)
HGVS:: NC_000023.11:g.49123707C>T, NW_004070880.2:g.1363136C>T, NG_021310.2:g.5036G>A, NM_015698.6:c.16G>A, NM_015698.5:c.16G>A, NM_015698.4:c.16G>A, NW_025791820.1:g.282658C>T, NC_000023.10:g.48980057C>T, NP_056513.2:p.Glu6Lys

Select item 14623368936.

rs1462336893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:49122728 (GRCh38)
X:48979078 (GRCh37)
Canonical SPDI:: NC_000023.11:49122727:C:A,NC_000023.11:49122727:C:T
Gene:: GPKOW (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.49122728C>A, NC_000023.11:g.49122728C>T, NW_004070880.2:g.1362157C>A, NW_004070880.2:g.1362157C>T, NG_021310.2:g.6015G>T, NG_021310.2:g.6015G>A, NM_015698.6:c.225G>T, NM_015698.6:c.225G>A, NM_015698.5:c.225G>T, NM_015698.5:c.225G>A, NM_015698.4:c.225G>T, NM_015698.4:c.225G>A, NW_025791820.1:g.281679C>A, NW_025791820.1:g.281679C>T, NC_000023.10:g.48979078C>A, NC_000023.10:g.48979078C>T, NP_056513.2:p.Gln75His

Select item 14559177367.

rs1455917736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:49123713 (GRCh38)
X:48980063 (GRCh37)
Canonical SPDI:: NC_000023.11:49123712:A:G
Gene:: GPKOW (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.49123713A>G, NW_004070880.2:g.1363142A>G, NG_021310.2:g.5030T>C, NM_015698.6:c.10T>C, NM_015698.5:c.10T>C, NM_015698.4:c.10T>C, NW_025791820.1:g.282664A>G, NC_000023.10:g.48980063A>G, NP_056513.2:p.Ser4Pro

Select item 14474608818.

rs1447460881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49117779 (GRCh38)
X:48974133 (GRCh37)
Canonical SPDI:: NC_000023.11:49117778:G:A
Gene:: GPKOW (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.49117779G>A, NW_004070880.2:g.1357208G>A, NG_021310.2:g.10964C>T, NM_015698.6:c.598C>T, NM_015698.5:c.598C>T, NM_015698.4:c.598C>T, NW_025791820.1:g.276730G>A, NC_000023.10:g.48974133G>A, NP_056513.2:p.Pro200Ser

Select item 14385782409.

rs1438578240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49123690 (GRCh38)
X:48980040 (GRCh37)
Canonical SPDI:: NC_000023.11:49123689:C:T
Gene:: GPKOW (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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.49123690C>T, NW_004070880.2:g.1363119C>T, NG_021310.2:g.5053G>A, NM_015698.6:c.33G>A, NM_015698.5:c.33G>A, NM_015698.4:c.33G>A, NW_025791820.1:g.282641C>T, NC_000023.10:g.48980040C>T

Select item 143438966210.

rs1434389662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:49117638 (GRCh38)
X:48973992 (GRCh37)
Canonical SPDI:: NC_000023.11:49117637:C:G
Gene:: GPKOW (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.49117638C>G, NW_004070880.2:g.1357067C>G, NG_021310.2:g.11105G>C, NM_015698.6:c.739G>C, NM_015698.5:c.739G>C, NM_015698.4:c.739G>C, NW_025791820.1:g.276589C>G, NC_000023.10:g.48973992C>G, NP_056513.2:p.Val247Leu

Select item 142916773611.

rs1429167736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49123600 (GRCh38)
X:48979950 (GRCh37)
Canonical SPDI:: NC_000023.11:49123599:T:C
Gene:: GPKOW (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000038/4 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000023.11:g.49123600T>C, NW_004070880.2:g.1363029T>C, NG_021310.2:g.5143A>G, NM_015698.6:c.123A>G, NM_015698.5:c.123A>G, NM_015698.4:c.123A>G, NW_025791820.1:g.282551T>C, NC_000023.10:g.48979950T>C

Select item 142630032212.

rs1426300322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49122753 (GRCh38)
X:48979103 (GRCh37)
Canonical SPDI:: NC_000023.11:49122752:T:C
Gene:: GPKOW (Varview)
Functional Consequence:: missense_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.49122753T>C, NW_004070880.2:g.1362182T>C, NG_021310.2:g.5990A>G, NM_015698.6:c.200A>G, NM_015698.5:c.200A>G, NM_015698.4:c.200A>G, NW_025791820.1:g.281704T>C, NC_000023.10:g.48979103T>C, NP_056513.2:p.Lys67Arg

Select item 142482476713.

rs1424824767 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49119737 (GRCh38)
X:48976090 (GRCh37)
Canonical SPDI:: NC_000023.11:49119736:T:C
Gene:: GPKOW (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.49119737T>C, NW_004070880.2:g.1359166T>C, NG_021310.2:g.9006A>G, NM_015698.6:c.534A>G, NM_015698.5:c.534A>G, NM_015698.4:c.534A>G, NW_025791820.1:g.278688T>C, NC_000023.10:g.48976090T>C

Select item 142391588114.

rs1423915881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:49116270 (GRCh38)
X:48972624 (GRCh37)
Canonical SPDI:: NC_000023.11:49116269:A:G
Gene:: GPKOW (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.49116270A>G, NW_004070880.2:g.1355699A>G, NG_021310.2:g.12473T>C, NM_015698.6:c.967T>C, NM_015698.5:c.967T>C, NM_015698.4:c.967T>C, NW_025791820.1:g.275221A>G, NC_000023.10:g.48972624A>G, NP_056513.2:p.Tyr323His

Select item 142239260015.

rs1422392600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:49117727 (GRCh38)
X:48974081 (GRCh37)
Canonical SPDI:: NC_000023.11:49117726:G:T
Gene:: GPKOW (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.49117727G>T, NW_004070880.2:g.1357156G>T, NG_021310.2:g.11016C>A, NM_015698.6:c.650C>A, NM_015698.5:c.650C>A, NM_015698.4:c.650C>A, NW_025791820.1:g.276678G>T, NC_000023.10:g.48974081G>T, NP_056513.2:p.Pro217His

Select item 142222038116.

rs1422220381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49113673 (GRCh38)
X:48970611 (GRCh37)
Canonical SPDI:: NC_000023.11:49113672:T:C
Gene:: GPKOW (Varview)
Functional Consequence:: missense_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.49113673T>C, NW_004070880.2:g.1353102T>C, NG_021310.2:g.15070A>G, NM_015698.6:c.1379A>G, NM_015698.5:c.1379A>G, NM_015698.4:c.1379A>G, NW_025791820.1:g.272624T>C, NC_000023.10:g.48970611T>C, NP_056513.2:p.His460Arg

Select item 142104530917.

rs1421045309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49122764 (GRCh38)
X:48979114 (GRCh37)
Canonical SPDI:: NC_000023.11:49122763:C:T
Gene:: GPKOW (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.49122764C>T, NW_004070880.2:g.1362193C>T, NG_021310.2:g.5979G>A, NM_015698.6:c.189G>A, NM_015698.5:c.189G>A, NM_015698.4:c.189G>A, NW_025791820.1:g.281715C>T, NC_000023.10:g.48979114C>T

Select item 141687147418.

rs1416871474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49122481 (GRCh38)
X:48978831 (GRCh37)
Canonical SPDI:: NC_000023.11:49122480:C:T
Gene:: GPKOW (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49122481C>T, NW_004070880.2:g.1361910C>T, NG_021310.2:g.6262G>A, NM_015698.6:c.373G>A, NM_015698.5:c.373G>A, NM_015698.4:c.373G>A, NW_025791820.1:g.281432C>T, NC_000023.10:g.48978831C>T, NP_056513.2:p.Asp125Asn

Select item 141015233919.

rs1410152339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49116268 (GRCh38)
X:48972622 (GRCh37)
Canonical SPDI:: NC_000023.11:49116267:G:A
Gene:: GPKOW (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.49116268G>A, NW_004070880.2:g.1355697G>A, NG_021310.2:g.12475C>T, NM_015698.6:c.969C>T, NM_015698.5:c.969C>T, NM_015698.4:c.969C>T, NW_025791820.1:g.275219G>A, NC_000023.10:g.48972622G>A

Select item 140875438720.

rs1408754387 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:49113639 (GRCh38)
X:48970577 (GRCh37)
Canonical SPDI:: NC_000023.11:49113638:A:T
Gene:: GPKOW (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.49113639A>T, NW_004070880.2:g.1353068A>T, NG_021310.2:g.15104T>A, NM_015698.6:c.1413T>A, NM_015698.5:c.1413T>A, NM_015698.4:c.1413T>A, NW_025791820.1:g.272590A>T, NC_000023.10:g.48970577A>T, NP_056513.2:p.Ser471Arg

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