SNP Links for Protein (Select 767970610) - SNP

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Links from Protein

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Select item 14905462031.

rs1490546203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:119187992 (GRCh38)
11:119058701 (GRCh37)
Canonical SPDI:: NC_000011.10:119187991:A:G
Gene:: PDZD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.119187992A>G, NC_000011.9:g.119058701A>G, NM_024791.4:c.668A>G, NM_024791.3:c.668A>G, XM_011543002.3:c.908A>G, XM_011543002.2:c.908A>G, XM_011543002.1:c.908A>G, XM_011543001.3:c.908A>G, XM_011543001.2:c.908A>G, XM_011543001.1:c.908A>G, XM_011543005.3:c.713A>G, XM_011543005.2:c.713A>G, XM_011543005.1:c.713A>G, XM_017018334.2:c.866A>G, XM_017018334.1:c.866A>G, NR_033122.2:n.806A>G, NR_033122.1:n.824A>G, NM_001168468.2:c.710A>G, NM_001168468.1:c.710A>G, XM_017018335.2:c.908A>G, XM_017018335.1:c.908A>G, XM_017018336.2:c.908A>G, XM_017018336.1:c.908A>G, XM_017018337.2:c.*74A>G, XM_017018337.1:c.*74A>G, XM_047427615.1:c.671A>G, NP_079067.3:p.Glu223Gly, XP_011541304.1:p.Glu303Gly, XP_011541303.1:p.Glu303Gly, XP_011541307.1:p.Glu238Gly, XP_016873823.1:p.Glu289Gly, NP_001161940.1:p.Glu237Gly, XP_016873824.1:p.Glu303Gly, XP_016873825.1:p.Glu303Gly, XP_047283571.1:p.Glu224Gly

Select item 14892018632.

rs1489201863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119187569 (GRCh38)
11:119058278 (GRCh37)
Canonical SPDI:: NC_000011.10:119187568:C:T
Gene:: PDZD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.119187569C>T, NC_000011.9:g.119058278C>T, NM_024791.4:c.526C>T, NM_024791.3:c.526C>T, XM_011543002.3:c.724C>T, XM_011543002.2:c.724C>T, XM_011543002.1:c.724C>T, XM_011543001.3:c.724C>T, XM_011543001.2:c.724C>T, XM_011543001.1:c.724C>T, XM_011543005.3:c.529C>T, XM_011543005.2:c.529C>T, XM_011543005.1:c.529C>T, XM_017018334.2:c.724C>T, XM_017018334.1:c.724C>T, NR_033122.2:n.622C>T, NR_033122.1:n.640C>T, NM_001168468.2:c.526C>T, NM_001168468.1:c.526C>T, XM_017018335.2:c.724C>T, XM_017018335.1:c.724C>T, XM_017018336.2:c.724C>T, XM_017018336.1:c.724C>T, XM_017018337.2:c.724C>T, XM_017018337.1:c.724C>T, XM_047427615.1:c.487C>T, NP_079067.3:p.Gln176Ter, XP_011541304.1:p.Gln242Ter, XP_011541303.1:p.Gln242Ter, XP_011541307.1:p.Gln177Ter, XP_016873823.1:p.Gln242Ter, NP_001161940.1:p.Gln176Ter, XP_016873824.1:p.Gln242Ter, XP_016873825.1:p.Gln242Ter, XP_016873826.1:p.Gln242Ter, XP_047283571.1:p.Gln163Ter

Select item 14889933783.

rs1488993378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:119187593 (GRCh38)
11:119058302 (GRCh37)
Canonical SPDI:: NC_000011.10:119187592:A:C
Gene:: PDZD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119187593A>C, NC_000011.9:g.119058302A>C, NM_024791.4:c.550A>C, NM_024791.3:c.550A>C, XM_011543002.3:c.748A>C, XM_011543002.2:c.748A>C, XM_011543002.1:c.748A>C, XM_011543001.3:c.748A>C, XM_011543001.2:c.748A>C, XM_011543001.1:c.748A>C, XM_011543005.3:c.553A>C, XM_011543005.2:c.553A>C, XM_011543005.1:c.553A>C, XM_017018334.2:c.748A>C, XM_017018334.1:c.748A>C, NR_033122.2:n.646A>C, NR_033122.1:n.664A>C, NM_001168468.2:c.550A>C, NM_001168468.1:c.550A>C, XM_017018335.2:c.748A>C, XM_017018335.1:c.748A>C, XM_017018336.2:c.748A>C, XM_017018336.1:c.748A>C, XM_017018337.2:c.748A>C, XM_017018337.1:c.748A>C, XM_047427615.1:c.511A>C, NP_079067.3:p.Ser184Arg, XP_011541304.1:p.Ser250Arg, XP_011541303.1:p.Ser250Arg, XP_011541307.1:p.Ser185Arg, XP_016873823.1:p.Ser250Arg, NP_001161940.1:p.Ser184Arg, XP_016873824.1:p.Ser250Arg, XP_016873825.1:p.Ser250Arg, XP_016873826.1:p.Ser250Arg, XP_047283571.1:p.Ser171Arg

Select item 14857290564.

rs1485729056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:119187600 (GRCh38)
11:119058309 (GRCh37)
Canonical SPDI:: NC_000011.10:119187599:G:C
Gene:: PDZD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119187600G>C, NC_000011.9:g.119058309G>C, NM_024791.4:c.557G>C, NM_024791.3:c.557G>C, XM_011543002.3:c.755G>C, XM_011543002.2:c.755G>C, XM_011543002.1:c.755G>C, XM_011543001.3:c.755G>C, XM_011543001.2:c.755G>C, XM_011543001.1:c.755G>C, XM_011543005.3:c.560G>C, XM_011543005.2:c.560G>C, XM_011543005.1:c.560G>C, XM_017018334.2:c.755G>C, XM_017018334.1:c.755G>C, NR_033122.2:n.653G>C, NR_033122.1:n.671G>C, NM_001168468.2:c.557G>C, NM_001168468.1:c.557G>C, XM_017018335.2:c.755G>C, XM_017018335.1:c.755G>C, XM_017018336.2:c.755G>C, XM_017018336.1:c.755G>C, XM_017018337.2:c.755G>C, XM_017018337.1:c.755G>C, XM_047427615.1:c.518G>C, NP_079067.3:p.Gly186Ala, XP_011541304.1:p.Gly252Ala, XP_011541303.1:p.Gly252Ala, XP_011541307.1:p.Gly187Ala, XP_016873823.1:p.Gly252Ala, NP_001161940.1:p.Gly186Ala, XP_016873824.1:p.Gly252Ala, XP_016873825.1:p.Gly252Ala, XP_016873826.1:p.Gly252Ala, XP_047283571.1:p.Gly173Ala

Select item 14825967135.

rs1482596713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119186406 (GRCh38)
11:119057115 (GRCh37)
Canonical SPDI:: NC_000011.10:119186405:C:T
Gene:: PDZD3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
HGVS:: NC_000011.10:g.119186406C>T, NC_000011.9:g.119057115C>T, XM_011543002.3:c.244C>T, XM_011543002.2:c.244C>T, XM_011543002.1:c.244C>T, XM_011543001.3:c.244C>T, XM_011543001.2:c.244C>T, XM_011543001.1:c.244C>T, XM_017018334.2:c.244C>T, XM_017018334.1:c.244C>T, XM_017018335.2:c.244C>T, XM_017018335.1:c.244C>T, XM_017018336.2:c.244C>T, XM_017018336.1:c.244C>T, XM_017018337.2:c.244C>T, XM_017018337.1:c.244C>T, XP_011541304.1:p.Gln82Ter, XP_011541303.1:p.Gln82Ter, XP_016873823.1:p.Gln82Ter, XP_016873824.1:p.Gln82Ter, XP_016873825.1:p.Gln82Ter, XP_016873826.1:p.Gln82Ter

Select item 14820037706.

rs1482003770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:119186209 (GRCh38)
11:119056918 (GRCh37)
Canonical SPDI:: NC_000011.10:119186208:C:G
Gene:: PDZD3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119186209C>G, NC_000011.9:g.119056918C>G, XM_011543002.3:c.47C>G, XM_011543002.2:c.47C>G, XM_011543002.1:c.47C>G, XM_011543001.3:c.47C>G, XM_011543001.2:c.47C>G, XM_011543001.1:c.47C>G, XM_017018334.2:c.47C>G, XM_017018334.1:c.47C>G, NR_033122.2:n.182C>G, NR_033122.1:n.200C>G, XM_017018335.2:c.47C>G, XM_017018335.1:c.47C>G, XM_017018336.2:c.47C>G, XM_017018336.1:c.47C>G, XM_017018337.2:c.47C>G, XM_017018337.1:c.47C>G, XM_047427615.1:c.47C>G, XP_011541304.1:p.Ala16Gly, XP_011541303.1:p.Ala16Gly, XP_016873823.1:p.Ala16Gly, XP_016873824.1:p.Ala16Gly, XP_016873825.1:p.Ala16Gly, XP_016873826.1:p.Ala16Gly, XP_047283571.1:p.Ala16Gly

Select item 14817763807.

rs1481776380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119187387 (GRCh38)
11:119058096 (GRCh37)
Canonical SPDI:: NC_000011.10:119187386:G:A
Gene:: PDZD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119187387G>A, NC_000011.9:g.119058096G>A, NM_024791.4:c.448G>A, NM_024791.3:c.448G>A, XM_011543002.3:c.646G>A, XM_011543002.2:c.646G>A, XM_011543002.1:c.646G>A, XM_011543001.3:c.646G>A, XM_011543001.2:c.646G>A, XM_011543001.1:c.646G>A, XM_011543005.3:c.451G>A, XM_011543005.2:c.451G>A, XM_011543005.1:c.451G>A, XM_017018334.2:c.646G>A, XM_017018334.1:c.646G>A, NR_033122.2:n.544G>A, NR_033122.1:n.562G>A, NM_001168468.2:c.448G>A, NM_001168468.1:c.448G>A, XM_017018335.2:c.646G>A, XM_017018335.1:c.646G>A, XM_017018336.2:c.646G>A, XM_017018336.1:c.646G>A, XM_017018337.2:c.646G>A, XM_017018337.1:c.646G>A, XM_047427615.1:c.409G>A, NP_079067.3:p.Gly150Ser, XP_011541304.1:p.Gly216Ser, XP_011541303.1:p.Gly216Ser, XP_011541307.1:p.Gly151Ser, XP_016873823.1:p.Gly216Ser, NP_001161940.1:p.Gly150Ser, XP_016873824.1:p.Gly216Ser, XP_016873825.1:p.Gly216Ser, XP_016873826.1:p.Gly216Ser, XP_047283571.1:p.Gly137Ser

Select item 14816427768.

rs1481642776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119186263 (GRCh38)
11:119056972 (GRCh37)
Canonical SPDI:: NC_000011.10:119186262:C:T
Gene:: PDZD3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119186263C>T, NC_000011.9:g.119056972C>T, XM_011543002.3:c.101C>T, XM_011543002.2:c.101C>T, XM_011543002.1:c.101C>T, XM_011543001.3:c.101C>T, XM_011543001.2:c.101C>T, XM_011543001.1:c.101C>T, XM_017018334.2:c.101C>T, XM_017018334.1:c.101C>T, XM_017018335.2:c.101C>T, XM_017018335.1:c.101C>T, XM_017018336.2:c.101C>T, XM_017018336.1:c.101C>T, XM_017018337.2:c.101C>T, XM_017018337.1:c.101C>T, XP_011541304.1:p.Pro34Leu, XP_011541303.1:p.Pro34Leu, XP_016873823.1:p.Pro34Leu, XP_016873824.1:p.Pro34Leu, XP_016873825.1:p.Pro34Leu, XP_016873826.1:p.Pro34Leu

Select item 14802020309.

rs1480202030 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:119188466 (GRCh38)
11:119059175 (GRCh37)
Canonical SPDI:: NC_000011.10:119188465:A:G
Gene:: PDZD3 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000016/4 (GnomAD_exomes)
G=0.00006/16 (TOPMED)
G=0.000079/11 (GnomAD)
HGVS:: NC_000011.10:g.119188466A>G, NC_000011.9:g.119059175A>G, NM_024791.4:c.932A>G, NM_024791.3:c.932A>G, XM_011543002.3:c.1172A>G, XM_011543002.2:c.1172A>G, XM_011543002.1:c.1172A>G, XM_011543001.3:c.1172A>G, XM_011543001.2:c.1172A>G, XM_011543001.1:c.1172A>G, XM_011543005.3:c.977A>G, XM_011543005.2:c.977A>G, XM_011543005.1:c.977A>G, XM_017018334.2:c.1130A>G, XM_017018334.1:c.1130A>G, NR_033122.2:n.1070A>G, NR_033122.1:n.1088A>G, NM_001168468.2:c.974A>G, NM_001168468.1:c.974A>G, XM_047427615.1:c.935A>G, NP_079067.3:p.Glu311Gly, XP_011541304.1:p.Glu391Gly, XP_011541303.1:p.Glu391Gly, XP_011541307.1:p.Glu326Gly, XP_016873823.1:p.Glu377Gly, NP_001161940.1:p.Glu325Gly, XP_047283571.1:p.Glu312Gly

Select item 148007133510.

rs1480071335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119187605 (GRCh38)
11:119058314 (GRCh37)
Canonical SPDI:: NC_000011.10:119187604:G:A
Gene:: PDZD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.119187605G>A, NC_000011.9:g.119058314G>A, NM_024791.4:c.562G>A, NM_024791.3:c.562G>A, XM_011543002.3:c.760G>A, XM_011543002.2:c.760G>A, XM_011543002.1:c.760G>A, XM_011543001.3:c.760G>A, XM_011543001.2:c.760G>A, XM_011543001.1:c.760G>A, XM_011543005.3:c.565G>A, XM_011543005.2:c.565G>A, XM_011543005.1:c.565G>A, XM_017018334.2:c.760G>A, XM_017018334.1:c.760G>A, NR_033122.2:n.658G>A, NR_033122.1:n.676G>A, NM_001168468.2:c.562G>A, NM_001168468.1:c.562G>A, XM_017018335.2:c.760G>A, XM_017018335.1:c.760G>A, XM_017018336.2:c.760G>A, XM_017018336.1:c.760G>A, XM_017018337.2:c.760G>A, XM_017018337.1:c.760G>A, XM_047427615.1:c.523G>A, NP_079067.3:p.Ala188Thr, XP_011541304.1:p.Ala254Thr, XP_011541303.1:p.Ala254Thr, XP_011541307.1:p.Ala189Thr, XP_016873823.1:p.Ala254Thr, NP_001161940.1:p.Ala188Thr, XP_016873824.1:p.Ala254Thr, XP_016873825.1:p.Ala254Thr, XP_016873826.1:p.Ala254Thr, XP_047283571.1:p.Ala175Thr

Select item 147826317011.

rs1478263170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:119188549 (GRCh38)
11:119059258 (GRCh37)
Canonical SPDI:: NC_000011.10:119188548:A:T
Gene:: PDZD3 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119188549A>T, NC_000011.9:g.119059258A>T, NM_024791.4:c.1015A>T, NM_024791.3:c.1015A>T, XM_011543002.3:c.1255A>T, XM_011543002.2:c.1255A>T, XM_011543002.1:c.1255A>T, XM_011543001.3:c.1255A>T, XM_011543001.2:c.1255A>T, XM_011543001.1:c.1255A>T, XM_011543005.3:c.1060A>T, XM_011543005.2:c.1060A>T, XM_011543005.1:c.1060A>T, XM_017018334.2:c.1213A>T, XM_017018334.1:c.1213A>T, NR_033122.2:n.1153A>T, NR_033122.1:n.1171A>T, NM_001168468.2:c.1057A>T, NM_001168468.1:c.1057A>T, XM_047427615.1:c.1018A>T, NP_079067.3:p.Met339Leu, XP_011541304.1:p.Met419Leu, XP_011541303.1:p.Met419Leu, XP_011541307.1:p.Met354Leu, XP_016873823.1:p.Met405Leu, NP_001161940.1:p.Met353Leu, XP_047283571.1:p.Met340Leu

Select item 147566430912.

rs1475664309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:119186665 (GRCh38)
11:119057374 (GRCh37)
Canonical SPDI:: NC_000011.10:119186664:T:C
Gene:: PDZD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119186665T>C, NC_000011.9:g.119057374T>C, NM_024791.4:c.305T>C, NM_024791.3:c.305T>C, XM_011543002.3:c.503T>C, XM_011543002.2:c.503T>C, XM_011543002.1:c.503T>C, XM_011543001.3:c.503T>C, XM_011543001.2:c.503T>C, XM_011543001.1:c.503T>C, XM_011543005.3:c.308T>C, XM_011543005.2:c.308T>C, XM_011543005.1:c.308T>C, XM_017018334.2:c.503T>C, XM_017018334.1:c.503T>C, NR_033122.2:n.401T>C, NR_033122.1:n.419T>C, NM_001168468.2:c.305T>C, NM_001168468.1:c.305T>C, XM_017018335.2:c.503T>C, XM_017018335.1:c.503T>C, XM_017018336.2:c.503T>C, XM_017018336.1:c.503T>C, XM_017018337.2:c.503T>C, XM_017018337.1:c.503T>C, XM_047427615.1:c.266T>C, NP_079067.3:p.Val102Ala, XP_011541304.1:p.Val168Ala, XP_011541303.1:p.Val168Ala, XP_011541307.1:p.Val103Ala, XP_016873823.1:p.Val168Ala, NP_001161940.1:p.Val102Ala, XP_016873824.1:p.Val168Ala, XP_016873825.1:p.Val168Ala, XP_016873826.1:p.Val168Ala, XP_047283571.1:p.Val89Ala

Select item 147473564713.

rs1474735647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119188355 (GRCh38)
11:119059064 (GRCh37)
Canonical SPDI:: NC_000011.10:119188354:G:A
Gene:: PDZD3 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.119188355G>A, NC_000011.9:g.119059064G>A, NM_024791.4:c.821G>A, NM_024791.3:c.821G>A, XM_011543002.3:c.1061G>A, XM_011543002.2:c.1061G>A, XM_011543002.1:c.1061G>A, XM_011543001.3:c.1061G>A, XM_011543001.2:c.1061G>A, XM_011543001.1:c.1061G>A, XM_011543005.3:c.866G>A, XM_011543005.2:c.866G>A, XM_011543005.1:c.866G>A, XM_017018334.2:c.1019G>A, XM_017018334.1:c.1019G>A, NR_033122.2:n.959G>A, NR_033122.1:n.977G>A, NM_001168468.2:c.863G>A, NM_001168468.1:c.863G>A, XM_017018336.2:c.*35G>A, XM_017018336.1:c.*35G>A, XM_047427615.1:c.824G>A, NP_079067.3:p.Gly274Glu, XP_011541304.1:p.Gly354Glu, XP_011541303.1:p.Gly354Glu, XP_011541307.1:p.Gly289Glu, XP_016873823.1:p.Gly340Glu, NP_001161940.1:p.Gly288Glu, XP_047283571.1:p.Gly275Glu

Select item 147375626914.

rs1473756269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:119187965 (GRCh38)
11:119058674 (GRCh37)
Canonical SPDI:: NC_000011.10:119187964:C:A,NC_000011.10:119187964:C:T
Gene:: PDZD3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119187965C>A, NC_000011.10:g.119187965C>T, NC_000011.9:g.119058674C>A, NC_000011.9:g.119058674C>T, NM_024791.4:c.641C>A, NM_024791.4:c.641C>T, NM_024791.3:c.641C>A, NM_024791.3:c.641C>T, XM_011543002.3:c.881C>A, XM_011543002.3:c.881C>T, XM_011543002.2:c.881C>A, XM_011543002.2:c.881C>T, XM_011543002.1:c.881C>A, XM_011543002.1:c.881C>T, XM_011543001.3:c.881C>A, XM_011543001.3:c.881C>T, XM_011543001.2:c.881C>A, XM_011543001.2:c.881C>T, XM_011543001.1:c.881C>A, XM_011543001.1:c.881C>T, XM_011543005.3:c.686C>A, XM_011543005.3:c.686C>T, XM_011543005.2:c.686C>A, XM_011543005.2:c.686C>T, XM_011543005.1:c.686C>A, XM_011543005.1:c.686C>T, XM_017018334.2:c.839C>A, XM_017018334.2:c.839C>T, XM_017018334.1:c.839C>A, XM_017018334.1:c.839C>T, NR_033122.2:n.779C>A, NR_033122.2:n.779C>T, NR_033122.1:n.797C>A, NR_033122.1:n.797C>T, NM_001168468.2:c.683C>A, NM_001168468.2:c.683C>T, NM_001168468.1:c.683C>A, NM_001168468.1:c.683C>T, XM_017018335.2:c.881C>A, XM_017018335.2:c.881C>T, XM_017018335.1:c.881C>A, XM_017018335.1:c.881C>T, XM_017018336.2:c.881C>A, XM_017018336.2:c.881C>T, XM_017018336.1:c.881C>A, XM_017018336.1:c.881C>T, XM_017018337.2:c.*47C>A, XM_017018337.2:c.*47C>T, XM_017018337.1:c.*47C>A, XM_017018337.1:c.*47C>T, XM_047427615.1:c.644C>A, XM_047427615.1:c.644C>T, NP_079067.3:p.Thr214Asn, NP_079067.3:p.Thr214Ile, XP_011541304.1:p.Thr294Asn, XP_011541304.1:p.Thr294Ile, XP_011541303.1:p.Thr294Asn, XP_011541303.1:p.Thr294Ile, XP_011541307.1:p.Thr229Asn, XP_011541307.1:p.Thr229Ile, XP_016873823.1:p.Thr280Asn, XP_016873823.1:p.Thr280Ile, NP_001161940.1:p.Thr228Asn, NP_001161940.1:p.Thr228Ile, XP_016873824.1:p.Thr294Asn, XP_016873824.1:p.Thr294Ile, XP_016873825.1:p.Thr294Asn, XP_016873825.1:p.Thr294Ile, XP_047283571.1:p.Thr215Asn, XP_047283571.1:p.Thr215Ile

Select item 147176636115.

rs1471766361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119187281 (GRCh38)
11:119057990 (GRCh37)
Canonical SPDI:: NC_000011.10:119187280:C:T
Gene:: PDZD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119187281C>T, NC_000011.9:g.119057990C>T, NM_024791.4:c.342C>T, NM_024791.3:c.342C>T, XM_011543002.3:c.540C>T, XM_011543002.2:c.540C>T, XM_011543002.1:c.540C>T, XM_011543001.3:c.540C>T, XM_011543001.2:c.540C>T, XM_011543001.1:c.540C>T, XM_011543005.3:c.345C>T, XM_011543005.2:c.345C>T, XM_011543005.1:c.345C>T, XM_017018334.2:c.540C>T, XM_017018334.1:c.540C>T, NR_033122.2:n.438C>T, NR_033122.1:n.456C>T, NM_001168468.2:c.342C>T, NM_001168468.1:c.342C>T, XM_017018335.2:c.540C>T, XM_017018335.1:c.540C>T, XM_017018336.2:c.540C>T, XM_017018336.1:c.540C>T, XM_017018337.2:c.540C>T, XM_017018337.1:c.540C>T, XM_047427615.1:c.303C>T

Select item 147061747316.

rs1470617473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119186431 (GRCh38)
11:119057140 (GRCh37)
Canonical SPDI:: NC_000011.10:119186430:G:A
Gene:: PDZD3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.119186431G>A, NC_000011.9:g.119057140G>A, XM_011543002.3:c.269G>A, XM_011543002.2:c.269G>A, XM_011543002.1:c.269G>A, XM_011543001.3:c.269G>A, XM_011543001.2:c.269G>A, XM_011543001.1:c.269G>A, XM_017018334.2:c.269G>A, XM_017018334.1:c.269G>A, XM_017018335.2:c.269G>A, XM_017018335.1:c.269G>A, XM_017018336.2:c.269G>A, XM_017018336.1:c.269G>A, XM_017018337.2:c.269G>A, XM_017018337.1:c.269G>A, XP_011541304.1:p.Gly90Glu, XP_011541303.1:p.Gly90Glu, XP_016873823.1:p.Gly90Glu, XP_016873824.1:p.Gly90Glu, XP_016873825.1:p.Gly90Glu, XP_016873826.1:p.Gly90Glu

Select item 146790969617.

rs1467909696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119189112 (GRCh38)
11:119059821 (GRCh37)
Canonical SPDI:: NC_000011.10:119189111:G:A
Gene:: PDZD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119189112G>A, NC_000011.9:g.119059821G>A, NM_024791.4:c.1353G>A, NM_024791.3:c.1353G>A, XM_011543002.3:c.1593G>A, XM_011543002.2:c.1593G>A, XM_011543002.1:c.1593G>A, XM_011543001.3:c.1593G>A, XM_011543001.2:c.1593G>A, XM_011543001.1:c.1593G>A, XM_011543005.3:c.1398G>A, XM_011543005.2:c.1398G>A, XM_011543005.1:c.1398G>A, XM_017018334.2:c.1551G>A, XM_017018334.1:c.1551G>A, NR_033122.2:n.1491G>A, NR_033122.1:n.1509G>A, NM_001168468.2:c.1395G>A, NM_001168468.1:c.1395G>A, XM_047427615.1:c.1356G>A

Select item 146725128318.

rs1467251283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:119188655 (GRCh38)
11:119059364 (GRCh37)
Canonical SPDI:: NC_000011.10:119188654:C:A
Gene:: PDZD3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_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_000011.10:g.119188655C>A, NC_000011.9:g.119059364C>A, NM_024791.4:c.1033C>A, NM_024791.3:c.1033C>A, XM_011543002.3:c.1273C>A, XM_011543002.2:c.1273C>A, XM_011543002.1:c.1273C>A, XM_011543001.3:c.1273C>A, XM_011543001.2:c.1273C>A, XM_011543001.1:c.1273C>A, XM_011543005.3:c.1078C>A, XM_011543005.2:c.1078C>A, XM_011543005.1:c.1078C>A, XM_017018334.2:c.1231C>A, XM_017018334.1:c.1231C>A, NR_033122.2:n.1171C>A, NR_033122.1:n.1189C>A, NM_001168468.2:c.1075C>A, NM_001168468.1:c.1075C>A, XM_017018335.2:c.1076C>A, XM_017018335.1:c.1076C>A, XM_047427615.1:c.1036C>A, NP_079067.3:p.Leu345Ile, XP_011541304.1:p.Leu425Ile, XP_011541303.1:p.Leu425Ile, XP_011541307.1:p.Leu360Ile, XP_016873823.1:p.Leu411Ile, NP_001161940.1:p.Leu359Ile, XP_016873824.1:p.Thr359Asn, XP_047283571.1:p.Leu346Ile

Select item 146700725019.

rs1467007250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119188116 (GRCh38)
11:119058825 (GRCh37)
Canonical SPDI:: NC_000011.10:119188115:G:A
Gene:: PDZD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000048/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000033/5 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119188116G>A, NC_000011.9:g.119058825G>A, NM_024791.4:c.792G>A, NM_024791.3:c.792G>A, XM_011543002.3:c.1032G>A, XM_011543002.2:c.1032G>A, XM_011543002.1:c.1032G>A, XM_011543001.3:c.1032G>A, XM_011543001.2:c.1032G>A, XM_011543001.1:c.1032G>A, XM_011543005.3:c.837G>A, XM_011543005.2:c.837G>A, XM_011543005.1:c.837G>A, XM_017018334.2:c.990G>A, XM_017018334.1:c.990G>A, NR_033122.2:n.930G>A, NR_033122.1:n.948G>A, NM_001168468.2:c.834G>A, NM_001168468.1:c.834G>A, XM_017018335.2:c.1032G>A, XM_017018335.1:c.1032G>A, XM_017018336.2:c.1032G>A, XM_017018336.1:c.1032G>A, XM_047427615.1:c.795G>A

Select item 146699626420.

rs1466996264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:119187655 (GRCh38)
11:119058364 (GRCh37)
Canonical SPDI:: NC_000011.10:119187654:T:C
Gene:: PDZD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000013/2 (GnomAD_exomes)
C=0.000342/1 (KOREAN)
C=0.000546/1 (Korea1K)
C=0.000566/9 (TOMMO)
HGVS:: NC_000011.10:g.119187655T>C, NC_000011.9:g.119058364T>C, NM_024791.4:c.612T>C, NM_024791.3:c.612T>C, XM_011543002.3:c.810T>C, XM_011543002.2:c.810T>C, XM_011543002.1:c.810T>C, XM_011543001.3:c.810T>C, XM_011543001.2:c.810T>C, XM_011543001.1:c.810T>C, XM_011543005.3:c.615T>C, XM_011543005.2:c.615T>C, XM_011543005.1:c.615T>C, XM_017018334.2:c.810T>C, XM_017018334.1:c.810T>C, NR_033122.2:n.708T>C, NR_033122.1:n.726T>C, NM_001168468.2:c.612T>C, NM_001168468.1:c.612T>C, XM_017018335.2:c.810T>C, XM_017018335.1:c.810T>C, XM_017018336.2:c.810T>C, XM_017018336.1:c.810T>C, XM_017018337.2:c.810T>C, XM_017018337.1:c.810T>C, XM_047427615.1:c.573T>C

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