SNP Links for Protein (Select 970414555) - SNP

Links from Protein

Items: 1 to 20 of 174

<< First< Prev

Page of 9

Next >Last >>

Select item 14847900971.

rs1484790097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:120575258 (GRCh38)
10:122334770 (GRCh37)
Canonical SPDI:: NC_000010.11:120575257:G:A
Gene:: PLPP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.120575258G>A, NC_000010.10:g.122334770G>A, XM_006717686.5:c.573G>A, XM_006717686.4:c.573G>A, XM_006717686.3:c.573G>A, XM_006717686.2:c.573G>A, XM_006717686.1:c.573G>A, XM_011539444.4:c.567G>A, XM_011539444.3:c.567G>A, XM_011539444.2:c.567G>A, XM_011539444.1:c.567G>A, NM_001030059.3:c.573G>A, NM_001030059.2:c.573G>A, NM_001030059.1:c.573G>A, XM_017015821.3:c.210G>A, XM_017015821.2:c.210G>A, XM_017015821.1:c.210G>A, NM_001318166.2:c.448G>A, NM_001318166.1:c.448G>A, NM_001318167.2:c.384G>A, NM_001318167.1:c.384G>A, XM_017015822.2:c.210G>A, XM_017015822.1:c.210G>A, NM_001318168.2:c.*2G>A, NM_001318168.1:c.*2G>A, XM_024447862.2:c.210G>A, XM_024447862.1:c.210G>A, XM_017015823.2:c.*2G>A, XM_017015823.1:c.*2G>A, XM_047424709.1:c.534G>A, XM_047424710.1:c.210G>A, NR_134516.1:n.437G>A, XP_006717749.1:p.Met191Ile, XP_011537746.1:p.Met189Ile, NP_001025230.1:p.Met191Ile, XP_016871310.1:p.Met70Ile, NP_001305095.1:p.Asp150Asn, NP_001305096.1:p.Met128Ile, XP_016871311.1:p.Met70Ile, XP_024303630.1:p.Met70Ile, XP_047280665.1:p.Met178Ile, XP_047280666.1:p.Met70Ile

Select item 14821047512.

rs1482104751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:120575164 (GRCh38)
10:122334676 (GRCh37)
Canonical SPDI:: NC_000010.11:120575163:A:G
Gene:: PLPP4 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.120575164A>G, NC_000010.10:g.122334676A>G, XM_006717686.5:c.479A>G, XM_006717686.4:c.479A>G, XM_006717686.3:c.479A>G, XM_006717686.2:c.479A>G, XM_006717686.1:c.479A>G, XM_011539444.4:c.473A>G, XM_011539444.3:c.473A>G, XM_011539444.2:c.473A>G, XM_011539444.1:c.473A>G, NM_001030059.3:c.479A>G, NM_001030059.2:c.479A>G, NM_001030059.1:c.479A>G, XM_017015821.3:c.116A>G, XM_017015821.2:c.116A>G, XM_017015821.1:c.116A>G, NM_001318166.2:c.354A>G, NM_001318166.1:c.354A>G, NM_001318167.2:c.290A>G, NM_001318167.1:c.290A>G, XM_017015822.2:c.116A>G, XM_017015822.1:c.116A>G, NM_001318168.2:c.199A>G, NM_001318168.1:c.199A>G, XM_024447862.2:c.116A>G, XM_024447862.1:c.116A>G, XM_017015823.2:c.199A>G, XM_017015823.1:c.199A>G, XM_047424709.1:c.440A>G, XM_047424710.1:c.116A>G, NR_134516.1:n.343A>G, XP_006717749.1:p.Tyr160Cys, XP_011537746.1:p.Tyr158Cys, NP_001025230.1:p.Tyr160Cys, XP_016871310.1:p.Tyr39Cys, NP_001305096.1:p.Tyr97Cys, XP_016871311.1:p.Tyr39Cys, NP_001305097.1:p.Thr67Ala, XP_024303630.1:p.Tyr39Cys, XP_016871312.1:p.Thr67Ala, XP_047280665.1:p.Tyr147Cys, XP_047280666.1:p.Tyr39Cys

Select item 14778193953.

rs1477819395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:120457332 (GRCh38)
10:122216844 (GRCh37)
Canonical SPDI:: NC_000010.11:120457331:G:A,NC_000010.11:120457331:G:T
Gene:: PLPP4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.120457332G>A, NC_000010.11:g.120457332G>T, NC_000010.10:g.122216844G>A, NC_000010.10:g.122216844G>T, XM_006717686.5:c.27G>A, XM_006717686.5:c.27G>T, XM_006717686.4:c.27G>A, XM_006717686.4:c.27G>T, XM_006717686.3:c.27G>A, XM_006717686.3:c.27G>T, XM_006717686.2:c.27G>A, XM_006717686.2:c.27G>T, XM_006717686.1:c.27G>A, XM_006717686.1:c.27G>T, XM_011539444.4:c.-61G>A, XM_011539444.4:c.-61G>T, XM_011539444.3:c.-61G>A, XM_011539444.3:c.-61G>T, XM_011539444.2:c.-61G>A, XM_011539444.2:c.-61G>T, XM_011539444.1:c.-61G>A, XM_011539444.1:c.-61G>T, NM_001030059.3:c.27G>A, NM_001030059.3:c.27G>T, NM_001030059.2:c.27G>A, NM_001030059.2:c.27G>T, NM_001030059.1:c.27G>A, NM_001030059.1:c.27G>T, XM_005269592.3:c.27G>A, XM_005269592.3:c.27G>T, XM_005269592.2:c.27G>A, XM_005269592.2:c.27G>T, XM_005269592.1:c.27G>A, XM_005269592.1:c.27G>T, NM_001318166.2:c.27G>A, NM_001318166.2:c.27G>T, NM_001318166.1:c.27G>A, NM_001318166.1:c.27G>T, NM_001318167.2:c.27G>A, NM_001318167.2:c.27G>T, NM_001318167.1:c.27G>A, NM_001318167.1:c.27G>T, NM_001318168.2:c.27G>A, NM_001318168.2:c.27G>T, NM_001318168.1:c.27G>A, NM_001318168.1:c.27G>T, NM_001318169.2:c.27G>A, NM_001318169.2:c.27G>T, NM_001318169.1:c.27G>A, NM_001318169.1:c.27G>T, XM_017015823.2:c.27G>A, XM_017015823.2:c.27G>T, XM_017015823.1:c.27G>A, XM_017015823.1:c.27G>T

Select item 14777172914.

rs1477717291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:120518839 (GRCh38)
10:122278351 (GRCh37)
Canonical SPDI:: NC_000010.11:120518838:C:G,NC_000010.11:120518838:C:T
Gene:: PLPP4 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.120518839C>G, NC_000010.11:g.120518839C>T, NC_000010.10:g.122278351C>G, NC_000010.10:g.122278351C>T, XM_006717686.5:c.263C>G, XM_006717686.5:c.263C>T, XM_006717686.4:c.263C>G, XM_006717686.4:c.263C>T, XM_006717686.3:c.263C>G, XM_006717686.3:c.263C>T, XM_006717686.2:c.263C>G, XM_006717686.2:c.263C>T, XM_006717686.1:c.263C>G, XM_006717686.1:c.263C>T, XM_011539444.4:c.257C>G, XM_011539444.4:c.257C>T, XM_011539444.3:c.257C>G, XM_011539444.3:c.257C>T, XM_011539444.2:c.257C>G, XM_011539444.2:c.257C>T, XM_011539444.1:c.257C>G, XM_011539444.1:c.257C>T, NM_001030059.3:c.263C>G, NM_001030059.3:c.263C>T, NM_001030059.2:c.263C>G, NM_001030059.2:c.263C>T, NM_001030059.1:c.263C>G, NM_001030059.1:c.263C>T, XM_017015821.3:c.-193C>G, XM_017015821.3:c.-193C>T, XM_005269592.3:c.263C>G, XM_005269592.3:c.263C>T, XM_005269592.2:c.263C>G, XM_005269592.2:c.263C>T, XM_005269592.1:c.263C>G, XM_005269592.1:c.263C>T, NM_001318166.2:c.263C>G, NM_001318166.2:c.263C>T, NM_001318166.1:c.263C>G, NM_001318166.1:c.263C>T, XM_017015822.2:c.-158C>G, XM_017015822.2:c.-158C>T, XM_024447862.2:c.-66C>G, XM_024447862.2:c.-66C>T, XM_024447862.1:c.-66C>G, XM_024447862.1:c.-66C>T, XM_047424709.1:c.224C>G, XM_047424709.1:c.224C>T, XM_047424710.1:c.-101C>G, XM_047424710.1:c.-101C>T, XP_006717749.1:p.Ser88Cys, XP_006717749.1:p.Ser88Phe, XP_011537746.1:p.Ser86Cys, XP_011537746.1:p.Ser86Phe, NP_001025230.1:p.Ser88Cys, NP_001025230.1:p.Ser88Phe, XP_005269649.1:p.Ser88Cys, XP_005269649.1:p.Ser88Phe, NP_001305095.1:p.Ser88Cys, NP_001305095.1:p.Ser88Phe, XP_047280665.1:p.Ser75Cys, XP_047280665.1:p.Ser75Phe

Select item 14759633765.

rs1475963376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:120457336 (GRCh38)
10:122216848 (GRCh37)
Canonical SPDI:: NC_000010.11:120457335:C:A,NC_000010.11:120457335:C:T
Gene:: PLPP4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.120457336C>A, NC_000010.11:g.120457336C>T, NC_000010.10:g.122216848C>A, NC_000010.10:g.122216848C>T, XM_006717686.5:c.31C>A, XM_006717686.5:c.31C>T, XM_006717686.4:c.31C>A, XM_006717686.4:c.31C>T, XM_006717686.3:c.31C>A, XM_006717686.3:c.31C>T, XM_006717686.2:c.31C>A, XM_006717686.2:c.31C>T, XM_006717686.1:c.31C>A, XM_006717686.1:c.31C>T, XM_011539444.4:c.-57C>A, XM_011539444.4:c.-57C>T, XM_011539444.3:c.-57C>A, XM_011539444.3:c.-57C>T, XM_011539444.2:c.-57C>A, XM_011539444.2:c.-57C>T, XM_011539444.1:c.-57C>A, XM_011539444.1:c.-57C>T, NM_001030059.3:c.31C>A, NM_001030059.3:c.31C>T, NM_001030059.2:c.31C>A, NM_001030059.2:c.31C>T, NM_001030059.1:c.31C>A, NM_001030059.1:c.31C>T, XM_005269592.3:c.31C>A, XM_005269592.3:c.31C>T, XM_005269592.2:c.31C>A, XM_005269592.2:c.31C>T, XM_005269592.1:c.31C>A, XM_005269592.1:c.31C>T, NM_001318166.2:c.31C>A, NM_001318166.2:c.31C>T, NM_001318166.1:c.31C>A, NM_001318166.1:c.31C>T, NM_001318167.2:c.31C>A, NM_001318167.2:c.31C>T, NM_001318167.1:c.31C>A, NM_001318167.1:c.31C>T, NM_001318168.2:c.31C>A, NM_001318168.2:c.31C>T, NM_001318168.1:c.31C>A, NM_001318168.1:c.31C>T, NM_001318169.2:c.31C>A, NM_001318169.2:c.31C>T, NM_001318169.1:c.31C>A, NM_001318169.1:c.31C>T, XM_017015823.2:c.31C>A, XM_017015823.2:c.31C>T, XM_017015823.1:c.31C>A, XM_017015823.1:c.31C>T, XP_006717749.1:p.Arg11Ter, NP_001025230.1:p.Arg11Ter, XP_005269649.1:p.Arg11Ter, NP_001305095.1:p.Arg11Ter, NP_001305096.1:p.Arg11Ter, NP_001305097.1:p.Arg11Ter, NP_001305098.1:p.Arg11Ter, XP_016871312.1:p.Arg11Ter

Select item 14600187796.

rs1460018779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:120575140 (GRCh38)
10:122334652 (GRCh37)
Canonical SPDI:: NC_000010.11:120575139:C:A,NC_000010.11:120575139:C:T
Gene:: PLPP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00003/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.120575140C>A, NC_000010.11:g.120575140C>T, NC_000010.10:g.122334652C>A, NC_000010.10:g.122334652C>T, XM_006717686.5:c.455C>A, XM_006717686.5:c.455C>T, XM_006717686.4:c.455C>A, XM_006717686.4:c.455C>T, XM_006717686.3:c.455C>A, XM_006717686.3:c.455C>T, XM_006717686.2:c.455C>A, XM_006717686.2:c.455C>T, XM_006717686.1:c.455C>A, XM_006717686.1:c.455C>T, XM_011539444.4:c.449C>A, XM_011539444.4:c.449C>T, XM_011539444.3:c.449C>A, XM_011539444.3:c.449C>T, XM_011539444.2:c.449C>A, XM_011539444.2:c.449C>T, XM_011539444.1:c.449C>A, XM_011539444.1:c.449C>T, NM_001030059.3:c.455C>A, NM_001030059.3:c.455C>T, NM_001030059.2:c.455C>A, NM_001030059.2:c.455C>T, NM_001030059.1:c.455C>A, NM_001030059.1:c.455C>T, XM_017015821.3:c.92C>A, XM_017015821.3:c.92C>T, XM_017015821.2:c.92C>A, XM_017015821.2:c.92C>T, XM_017015821.1:c.92C>A, XM_017015821.1:c.92C>T, NM_001318166.2:c.330C>A, NM_001318166.2:c.330C>T, NM_001318166.1:c.330C>A, NM_001318166.1:c.330C>T, NM_001318167.2:c.266C>A, NM_001318167.2:c.266C>T, NM_001318167.1:c.266C>A, NM_001318167.1:c.266C>T, XM_017015822.2:c.92C>A, XM_017015822.2:c.92C>T, XM_017015822.1:c.92C>A, XM_017015822.1:c.92C>T, NM_001318168.2:c.175C>A, NM_001318168.2:c.175C>T, NM_001318168.1:c.175C>A, NM_001318168.1:c.175C>T, XM_024447862.2:c.92C>A, XM_024447862.2:c.92C>T, XM_024447862.1:c.92C>A, XM_024447862.1:c.92C>T, XM_017015823.2:c.175C>A, XM_017015823.2:c.175C>T, XM_017015823.1:c.175C>A, XM_017015823.1:c.175C>T, XM_047424709.1:c.416C>A, XM_047424709.1:c.416C>T, XM_047424710.1:c.92C>A, XM_047424710.1:c.92C>T, NR_134516.1:n.319C>A, NR_134516.1:n.319C>T, XP_006717749.1:p.Ser152Ter, XP_006717749.1:p.Ser152Leu, XP_011537746.1:p.Ser150Ter, XP_011537746.1:p.Ser150Leu, NP_001025230.1:p.Ser152Ter, NP_001025230.1:p.Ser152Leu, XP_016871310.1:p.Ser31Ter, XP_016871310.1:p.Ser31Leu, NP_001305095.1:p.Phe110Leu, NP_001305096.1:p.Ser89Ter, NP_001305096.1:p.Ser89Leu, XP_016871311.1:p.Ser31Ter, XP_016871311.1:p.Ser31Leu, NP_001305097.1:p.Arg59Trp, XP_024303630.1:p.Ser31Ter, XP_024303630.1:p.Ser31Leu, XP_016871312.1:p.Arg59Trp, XP_047280665.1:p.Ser139Ter, XP_047280665.1:p.Ser139Leu, XP_047280666.1:p.Ser31Ter, XP_047280666.1:p.Ser31Leu

Select item 14401513377.

rs1440151337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:120457322 (GRCh38)
10:122216834 (GRCh37)
Canonical SPDI:: NC_000010.11:120457321:T:C
Gene:: PLPP4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.120457322T>C, NC_000010.10:g.122216834T>C, XM_006717686.5:c.17T>C, XM_006717686.4:c.17T>C, XM_006717686.3:c.17T>C, XM_006717686.2:c.17T>C, XM_006717686.1:c.17T>C, XM_011539444.4:c.-71T>C, XM_011539444.3:c.-71T>C, XM_011539444.2:c.-71T>C, XM_011539444.1:c.-71T>C, NM_001030059.3:c.17T>C, NM_001030059.2:c.17T>C, NM_001030059.1:c.17T>C, XM_005269592.3:c.17T>C, XM_005269592.2:c.17T>C, XM_005269592.1:c.17T>C, NM_001318166.2:c.17T>C, NM_001318166.1:c.17T>C, NM_001318167.2:c.17T>C, NM_001318167.1:c.17T>C, NM_001318168.2:c.17T>C, NM_001318168.1:c.17T>C, NM_001318169.2:c.17T>C, NM_001318169.1:c.17T>C, XM_017015823.2:c.17T>C, XM_017015823.1:c.17T>C, XP_006717749.1:p.Ile6Thr, NP_001025230.1:p.Ile6Thr, XP_005269649.1:p.Ile6Thr, NP_001305095.1:p.Ile6Thr, NP_001305096.1:p.Ile6Thr, NP_001305097.1:p.Ile6Thr, NP_001305098.1:p.Ile6Thr, XP_016871312.1:p.Ile6Thr

Select item 14227018408.

rs1422701840 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:120503848 (GRCh38)
10:122263360 (GRCh37)
Canonical SPDI:: NC_000010.11:120503843:AGAGAG:AGAG
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.009863/112 (GoESP)
HGVS:: NC_000010.11:g.120503844AG[2], NC_000010.10:g.122263356AG[2], XM_006717686.5:c.87_88del, XM_006717686.4:c.87_88del, XM_006717686.3:c.87_88del, XM_006717686.2:c.87_88del, XM_006717686.1:c.87_88del, XM_011539444.4:c.81_82del, XM_011539444.3:c.81_82del, XM_011539444.2:c.81_82del, XM_011539444.1:c.81_82del, NM_001030059.3:c.87_88del, NM_001030059.2:c.87_88del, NM_001030059.1:c.87_88del, XM_005269592.3:c.87_88del, XM_005269592.2:c.87_88del, XM_005269592.1:c.87_88del, NM_001318166.2:c.87_88del, NM_001318166.1:c.87_88del, NM_001318167.2:c.87_88del, NM_001318167.1:c.87_88del, XM_017015822.2:c.-247AG[2], NM_001318168.2:c.87_88del, NM_001318168.1:c.87_88del, NM_001318169.2:c.87_88del, NM_001318169.1:c.87_88del, XM_017015823.2:c.87_88del, XM_017015823.1:c.87_88del, XM_047424709.1:c.48_49del, NR_134516.1:n.227AG[2], XP_006717749.1:p.Arg29fs, XP_011537746.1:p.Arg27fs, NP_001025230.1:p.Arg29fs, XP_005269649.1:p.Arg29fs, NP_001305095.1:p.Arg29fs, NP_001305096.1:p.Arg29fs, NP_001305097.1:p.Arg29fs, NP_001305098.1:p.Arg29fs, XP_016871312.1:p.Arg29fs, XP_047280665.1:p.Arg16fs

Select item 14215094059.

rs1421509405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:120575222 (GRCh38)
10:122334734 (GRCh37)
Canonical SPDI:: NC_000010.11:120575221:C:T
Gene:: PLPP4 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.120575222C>T, NC_000010.10:g.122334734C>T, XM_006717686.5:c.537C>T, XM_006717686.4:c.537C>T, XM_006717686.3:c.537C>T, XM_006717686.2:c.537C>T, XM_006717686.1:c.537C>T, XM_011539444.4:c.531C>T, XM_011539444.3:c.531C>T, XM_011539444.2:c.531C>T, XM_011539444.1:c.531C>T, NM_001030059.3:c.537C>T, NM_001030059.2:c.537C>T, NM_001030059.1:c.537C>T, XM_017015821.3:c.174C>T, XM_017015821.2:c.174C>T, XM_017015821.1:c.174C>T, NM_001318166.2:c.412C>T, NM_001318166.1:c.412C>T, NM_001318167.2:c.348C>T, NM_001318167.1:c.348C>T, XM_017015822.2:c.174C>T, XM_017015822.1:c.174C>T, NM_001318168.2:c.257C>T, NM_001318168.1:c.257C>T, XM_024447862.2:c.174C>T, XM_024447862.1:c.174C>T, XM_017015823.2:c.257C>T, XM_017015823.1:c.257C>T, XM_047424709.1:c.498C>T, XM_047424710.1:c.174C>T, NR_134516.1:n.401C>T, NP_001305097.1:p.Ser86Phe, XP_016871312.1:p.Ser86Phe

Select item 141617570310.

rs1416175703 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:120457343 (GRCh38)
10:122216855 (GRCh37)
Canonical SPDI:: NC_000010.11:120457342:T:A
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.120457343T>A, NC_000010.10:g.122216855T>A, XM_006717686.5:c.38T>A, XM_006717686.4:c.38T>A, XM_006717686.3:c.38T>A, XM_006717686.2:c.38T>A, XM_006717686.1:c.38T>A, XM_011539444.4:c.-50T>A, XM_011539444.3:c.-50T>A, XM_011539444.2:c.-50T>A, XM_011539444.1:c.-50T>A, NM_001030059.3:c.38T>A, NM_001030059.2:c.38T>A, NM_001030059.1:c.38T>A, XM_005269592.3:c.38T>A, XM_005269592.2:c.38T>A, XM_005269592.1:c.38T>A, NM_001318166.2:c.38T>A, NM_001318166.1:c.38T>A, NM_001318167.2:c.38T>A, NM_001318167.1:c.38T>A, NM_001318168.2:c.38T>A, NM_001318168.1:c.38T>A, NM_001318169.2:c.38T>A, NM_001318169.1:c.38T>A, XM_017015823.2:c.38T>A, XM_017015823.1:c.38T>A, NR_134516.1:n.182T>A, XP_006717749.1:p.Leu13Gln, NP_001025230.1:p.Leu13Gln, XP_005269649.1:p.Leu13Gln, NP_001305095.1:p.Leu13Gln, NP_001305096.1:p.Leu13Gln, NP_001305097.1:p.Leu13Gln, NP_001305098.1:p.Leu13Gln, XP_016871312.1:p.Leu13Gln

Select item 141476220111.

rs1414762201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:120575155 (GRCh38)
10:122334667 (GRCh37)
Canonical SPDI:: NC_000010.11:120575154:C:T
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.120575155C>T, NC_000010.10:g.122334667C>T, XM_006717686.5:c.470C>T, XM_006717686.4:c.470C>T, XM_006717686.3:c.470C>T, XM_006717686.2:c.470C>T, XM_006717686.1:c.470C>T, XM_011539444.4:c.464C>T, XM_011539444.3:c.464C>T, XM_011539444.2:c.464C>T, XM_011539444.1:c.464C>T, NM_001030059.3:c.470C>T, NM_001030059.2:c.470C>T, NM_001030059.1:c.470C>T, XM_017015821.3:c.107C>T, XM_017015821.2:c.107C>T, XM_017015821.1:c.107C>T, NM_001318166.2:c.345C>T, NM_001318166.1:c.345C>T, NM_001318167.2:c.281C>T, NM_001318167.1:c.281C>T, XM_017015822.2:c.107C>T, XM_017015822.1:c.107C>T, NM_001318168.2:c.190C>T, NM_001318168.1:c.190C>T, XM_024447862.2:c.107C>T, XM_024447862.1:c.107C>T, XM_017015823.2:c.190C>T, XM_017015823.1:c.190C>T, XM_047424709.1:c.431C>T, XM_047424710.1:c.107C>T, NR_134516.1:n.334C>T, XP_006717749.1:p.Thr157Met, XP_011537746.1:p.Thr155Met, NP_001025230.1:p.Thr157Met, XP_016871310.1:p.Thr36Met, NP_001305096.1:p.Thr94Met, XP_016871311.1:p.Thr36Met, NP_001305097.1:p.Arg64Ter, XP_024303630.1:p.Thr36Met, XP_016871312.1:p.Arg64Ter, XP_047280665.1:p.Thr144Met, XP_047280666.1:p.Thr36Met

Select item 140386440512.

rs1403864405 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:120513960 (GRCh38)
10:122273472 (GRCh37)
Canonical SPDI:: NC_000010.11:120513959:T:C
Gene:: PLPP4 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.120513960T>C, NC_000010.10:g.122273472T>C, XM_006717686.5:c.215T>C, XM_006717686.4:c.215T>C, XM_006717686.3:c.215T>C, XM_006717686.2:c.215T>C, XM_006717686.1:c.215T>C, XM_011539444.4:c.209T>C, XM_011539444.3:c.209T>C, XM_011539444.2:c.209T>C, XM_011539444.1:c.209T>C, NM_001030059.3:c.215T>C, NM_001030059.2:c.215T>C, NM_001030059.1:c.215T>C, XM_005269592.3:c.215T>C, XM_005269592.2:c.215T>C, XM_005269592.1:c.215T>C, NM_001318166.2:c.215T>C, NM_001318166.1:c.215T>C, NM_001318167.2:c.215T>C, NM_001318167.1:c.215T>C, XM_047424709.1:c.176T>C, XP_006717749.1:p.Ile72Thr, XP_011537746.1:p.Ile70Thr, NP_001025230.1:p.Ile72Thr, XP_005269649.1:p.Ile72Thr, NP_001305095.1:p.Ile72Thr, NP_001305096.1:p.Ile72Thr, XP_047280665.1:p.Ile59Thr

Select item 140299994013.

rs1402999940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:120513922 (GRCh38)
10:122273434 (GRCh37)
Canonical SPDI:: NC_000010.11:120513921:C:G
Gene:: PLPP4 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.120513922C>G, NC_000010.10:g.122273434C>G, XM_006717686.5:c.177C>G, XM_006717686.4:c.177C>G, XM_006717686.3:c.177C>G, XM_006717686.2:c.177C>G, XM_006717686.1:c.177C>G, XM_011539444.4:c.171C>G, XM_011539444.3:c.171C>G, XM_011539444.2:c.171C>G, XM_011539444.1:c.171C>G, NM_001030059.3:c.177C>G, NM_001030059.2:c.177C>G, NM_001030059.1:c.177C>G, XM_005269592.3:c.177C>G, XM_005269592.2:c.177C>G, XM_005269592.1:c.177C>G, NM_001318166.2:c.177C>G, NM_001318166.1:c.177C>G, NM_001318167.2:c.177C>G, NM_001318167.1:c.177C>G, XM_047424709.1:c.138C>G, XP_006717749.1:p.Phe59Leu, XP_011537746.1:p.Phe57Leu, NP_001025230.1:p.Phe59Leu, XP_005269649.1:p.Phe59Leu, NP_001305095.1:p.Phe59Leu, NP_001305096.1:p.Phe59Leu, XP_047280665.1:p.Phe46Leu

Select item 140258218514.

rs1402582185 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:120589341 (GRCh38)
10:122348853 (GRCh37)
Canonical SPDI:: NC_000010.11:120589340:T:C
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.120589341T>C, NC_000010.10:g.122348853T>C, XM_011539444.4:c.649T>C, XM_011539444.3:c.649T>C, XM_011539444.2:c.649T>C, XM_011539444.1:c.649T>C, NM_001030059.3:c.655T>C, NM_001030059.2:c.655T>C, NM_001030059.1:c.655T>C, XM_017015821.3:c.292T>C, XM_017015821.2:c.292T>C, XM_017015821.1:c.292T>C, XM_005269592.3:c.484T>C, XM_005269592.2:c.484T>C, XM_005269592.1:c.484T>C, NM_001318166.2:c.530T>C, NM_001318166.1:c.530T>C, NM_001318167.2:c.466T>C, NM_001318167.1:c.466T>C, XM_017015822.2:c.292T>C, XM_017015822.1:c.292T>C, NM_001318168.2:c.*84T>C, NM_001318168.1:c.*84T>C, XM_024447862.2:c.292T>C, XM_024447862.1:c.292T>C, NM_001318169.2:c.204T>C, NM_001318169.1:c.204T>C, XM_047424709.1:c.616T>C, XM_047424710.1:c.292T>C, NR_134516.1:n.519T>C, XP_011537746.1:p.Tyr217His, NP_001025230.1:p.Tyr219His, XP_016871310.1:p.Tyr98His, XP_005269649.1:p.Tyr162His, NP_001305095.1:p.Ile177Thr, NP_001305096.1:p.Tyr156His, XP_016871311.1:p.Tyr98His, XP_024303630.1:p.Tyr98His, XP_047280665.1:p.Tyr206His, XP_047280666.1:p.Tyr98His

Select item 139434748215.

rs1394347482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:120575199 (GRCh38)
10:122334711 (GRCh37)
Canonical SPDI:: NC_000010.11:120575198:G:A
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,stop_gained,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.120575199G>A, NC_000010.10:g.122334711G>A, XM_006717686.5:c.514G>A, XM_006717686.4:c.514G>A, XM_006717686.3:c.514G>A, XM_006717686.2:c.514G>A, XM_006717686.1:c.514G>A, XM_011539444.4:c.508G>A, XM_011539444.3:c.508G>A, XM_011539444.2:c.508G>A, XM_011539444.1:c.508G>A, NM_001030059.3:c.514G>A, NM_001030059.2:c.514G>A, NM_001030059.1:c.514G>A, XM_017015821.3:c.151G>A, XM_017015821.2:c.151G>A, XM_017015821.1:c.151G>A, NM_001318166.2:c.389G>A, NM_001318166.1:c.389G>A, NM_001318167.2:c.325G>A, NM_001318167.1:c.325G>A, XM_017015822.2:c.151G>A, XM_017015822.1:c.151G>A, NM_001318168.2:c.234G>A, NM_001318168.1:c.234G>A, XM_024447862.2:c.151G>A, XM_024447862.1:c.151G>A, XM_017015823.2:c.234G>A, XM_017015823.1:c.234G>A, XM_047424709.1:c.475G>A, XM_047424710.1:c.151G>A, NR_134516.1:n.378G>A, XP_006717749.1:p.Gly172Arg, XP_011537746.1:p.Gly170Arg, NP_001025230.1:p.Gly172Arg, XP_016871310.1:p.Gly51Arg, NP_001305095.1:p.Trp130Ter, NP_001305096.1:p.Gly109Arg, XP_016871311.1:p.Gly51Arg, XP_024303630.1:p.Gly51Arg, XP_047280665.1:p.Gly159Arg, XP_047280666.1:p.Gly51Arg

Select item 137597681616.

rs1375976816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:120457345 (GRCh38)
10:122216857 (GRCh37)
Canonical SPDI:: NC_000010.11:120457344:C:G,NC_000010.11:120457344:C:T
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.120457345C>G, NC_000010.11:g.120457345C>T, NC_000010.10:g.122216857C>G, NC_000010.10:g.122216857C>T, XM_006717686.5:c.40C>G, XM_006717686.5:c.40C>T, XM_006717686.4:c.40C>G, XM_006717686.4:c.40C>T, XM_006717686.3:c.40C>G, XM_006717686.3:c.40C>T, XM_006717686.2:c.40C>G, XM_006717686.2:c.40C>T, XM_006717686.1:c.40C>G, XM_006717686.1:c.40C>T, XM_011539444.4:c.-48C>G, XM_011539444.4:c.-48C>T, XM_011539444.3:c.-48C>G, XM_011539444.3:c.-48C>T, XM_011539444.2:c.-48C>G, XM_011539444.2:c.-48C>T, XM_011539444.1:c.-48C>G, XM_011539444.1:c.-48C>T, NM_001030059.3:c.40C>G, NM_001030059.3:c.40C>T, NM_001030059.2:c.40C>G, NM_001030059.2:c.40C>T, NM_001030059.1:c.40C>G, NM_001030059.1:c.40C>T, XM_005269592.3:c.40C>G, XM_005269592.3:c.40C>T, XM_005269592.2:c.40C>G, XM_005269592.2:c.40C>T, XM_005269592.1:c.40C>G, XM_005269592.1:c.40C>T, NM_001318166.2:c.40C>G, NM_001318166.2:c.40C>T, NM_001318166.1:c.40C>G, NM_001318166.1:c.40C>T, NM_001318167.2:c.40C>G, NM_001318167.2:c.40C>T, NM_001318167.1:c.40C>G, NM_001318167.1:c.40C>T, NM_001318168.2:c.40C>G, NM_001318168.2:c.40C>T, NM_001318168.1:c.40C>G, NM_001318168.1:c.40C>T, NM_001318169.2:c.40C>G, NM_001318169.2:c.40C>T, NM_001318169.1:c.40C>G, NM_001318169.1:c.40C>T, XM_017015823.2:c.40C>G, XM_017015823.2:c.40C>T, XM_017015823.1:c.40C>G, XM_017015823.1:c.40C>T, NR_134516.1:n.184C>G, NR_134516.1:n.184C>T, XP_006717749.1:p.Leu14Val, XP_006717749.1:p.Leu14Phe, NP_001025230.1:p.Leu14Val, NP_001025230.1:p.Leu14Phe, XP_005269649.1:p.Leu14Val, XP_005269649.1:p.Leu14Phe, NP_001305095.1:p.Leu14Val, NP_001305095.1:p.Leu14Phe, NP_001305096.1:p.Leu14Val, NP_001305096.1:p.Leu14Phe, NP_001305097.1:p.Leu14Val, NP_001305097.1:p.Leu14Phe, NP_001305098.1:p.Leu14Val, NP_001305098.1:p.Leu14Phe, XP_016871312.1:p.Leu14Val, XP_016871312.1:p.Leu14Phe

Select item 137330841817.

rs1373308418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:120503866 (GRCh38)
10:122263378 (GRCh37)
Canonical SPDI:: NC_000010.11:120503865:G:A
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.120503866G>A, NC_000010.10:g.122263378G>A, XM_006717686.5:c.105G>A, XM_006717686.4:c.105G>A, XM_006717686.3:c.105G>A, XM_006717686.2:c.105G>A, XM_006717686.1:c.105G>A, XM_011539444.4:c.99G>A, XM_011539444.3:c.99G>A, XM_011539444.2:c.99G>A, XM_011539444.1:c.99G>A, NM_001030059.3:c.105G>A, NM_001030059.2:c.105G>A, NM_001030059.1:c.105G>A, XM_017015821.3:c.-260G>A, XM_005269592.3:c.105G>A, XM_005269592.2:c.105G>A, XM_005269592.1:c.105G>A, NM_001318166.2:c.105G>A, NM_001318166.1:c.105G>A, NM_001318167.2:c.105G>A, NM_001318167.1:c.105G>A, XM_017015822.2:c.-225G>A, NM_001318168.2:c.105G>A, NM_001318168.1:c.105G>A, NM_001318169.2:c.105G>A, NM_001318169.1:c.105G>A, XM_017015823.2:c.105G>A, XM_017015823.1:c.105G>A, XM_047424709.1:c.66G>A, XM_047424710.1:c.-168G>A, NR_134516.1:n.249G>A

Select item 136939359618.

rs1369393596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:120589373 (GRCh38)
10:122348885 (GRCh37)
Canonical SPDI:: NC_000010.11:120589372:G:C
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.120589373G>C, NC_000010.10:g.122348885G>C, XM_011539444.4:c.681G>C, XM_011539444.3:c.681G>C, XM_011539444.2:c.681G>C, XM_011539444.1:c.681G>C, NM_001030059.3:c.687G>C, NM_001030059.2:c.687G>C, NM_001030059.1:c.687G>C, XM_017015821.3:c.324G>C, XM_017015821.2:c.324G>C, XM_017015821.1:c.324G>C, XM_005269592.3:c.516G>C, XM_005269592.2:c.516G>C, XM_005269592.1:c.516G>C, NM_001318166.2:c.562G>C, NM_001318166.1:c.562G>C, NM_001318167.2:c.498G>C, NM_001318167.1:c.498G>C, XM_017015822.2:c.324G>C, XM_017015822.1:c.324G>C, NM_001318168.2:c.*116G>C, NM_001318168.1:c.*116G>C, XM_024447862.2:c.324G>C, XM_024447862.1:c.324G>C, NM_001318169.2:c.236G>C, NM_001318169.1:c.236G>C, XM_047424709.1:c.648G>C, XM_047424710.1:c.324G>C, NR_134516.1:n.551G>C, NP_001305095.1:p.Gly188Arg, NP_001305098.1:p.Trp79Ser

Select item 136527030819.

rs1365270308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:120589351 (GRCh38)
10:122348863 (GRCh37)
Canonical SPDI:: NC_000010.11:120589350:A:G
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.120589351A>G, NC_000010.10:g.122348863A>G, XM_011539444.4:c.659A>G, XM_011539444.3:c.659A>G, XM_011539444.2:c.659A>G, XM_011539444.1:c.659A>G, NM_001030059.3:c.665A>G, NM_001030059.2:c.665A>G, NM_001030059.1:c.665A>G, XM_017015821.3:c.302A>G, XM_017015821.2:c.302A>G, XM_017015821.1:c.302A>G, XM_005269592.3:c.494A>G, XM_005269592.2:c.494A>G, XM_005269592.1:c.494A>G, NM_001318166.2:c.540A>G, NM_001318166.1:c.540A>G, NM_001318167.2:c.476A>G, NM_001318167.1:c.476A>G, XM_017015822.2:c.302A>G, XM_017015822.1:c.302A>G, NM_001318168.2:c.*94A>G, NM_001318168.1:c.*94A>G, XM_024447862.2:c.302A>G, XM_024447862.1:c.302A>G, NM_001318169.2:c.214A>G, NM_001318169.1:c.214A>G, XM_047424709.1:c.626A>G, XM_047424710.1:c.302A>G, NR_134516.1:n.529A>G, XP_011537746.1:p.Tyr220Cys, NP_001025230.1:p.Tyr222Cys, XP_016871310.1:p.Tyr101Cys, XP_005269649.1:p.Tyr165Cys, NP_001305096.1:p.Tyr159Cys, XP_016871311.1:p.Tyr101Cys, XP_024303630.1:p.Tyr101Cys, NP_001305098.1:p.Thr72Ala, XP_047280665.1:p.Tyr209Cys, XP_047280666.1:p.Tyr101Cys

Select item 135003113020.

rs1350031130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:120575250 (GRCh38)
10:122334762 (GRCh37)
Canonical SPDI:: NC_000010.11:120575249:G:A
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.120575250G>A, NC_000010.10:g.122334762G>A, XM_006717686.5:c.565G>A, XM_006717686.4:c.565G>A, XM_006717686.3:c.565G>A, XM_006717686.2:c.565G>A, XM_006717686.1:c.565G>A, XM_011539444.4:c.559G>A, XM_011539444.3:c.559G>A, XM_011539444.2:c.559G>A, XM_011539444.1:c.559G>A, NM_001030059.3:c.565G>A, NM_001030059.2:c.565G>A, NM_001030059.1:c.565G>A, XM_017015821.3:c.202G>A, XM_017015821.2:c.202G>A, XM_017015821.1:c.202G>A, NM_001318166.2:c.440G>A, NM_001318166.1:c.440G>A, NM_001318167.2:c.376G>A, NM_001318167.1:c.376G>A, XM_017015822.2:c.202G>A, XM_017015822.1:c.202G>A, NM_001318168.2:c.285G>A, NM_001318168.1:c.285G>A, XM_024447862.2:c.202G>A, XM_024447862.1:c.202G>A, XM_017015823.2:c.285G>A, XM_017015823.1:c.285G>A, XM_047424709.1:c.526G>A, XM_047424710.1:c.202G>A, NR_134516.1:n.429G>A, XP_006717749.1:p.Ala189Thr, XP_011537746.1:p.Ala187Thr, NP_001025230.1:p.Ala189Thr, XP_016871310.1:p.Ala68Thr, NP_001305095.1:p.Arg147His, NP_001305096.1:p.Ala126Thr, XP_016871311.1:p.Ala68Thr, XP_024303630.1:p.Ala68Thr, XP_047280665.1:p.Ala176Thr, XP_047280666.1:p.Ala68Thr

<< First< Prev

Page of 9

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 174

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity