SNP Links for Protein (Select 767984734) - SNP

Links from Protein

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Select item 14901104711.

rs1490110471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:89727254 (GRCh38)
15:90270485 (GRCh37)
Canonical SPDI:: NC_000015.10:89727253:G:C
Gene:: WDR93 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.89727254G>C, NC_000015.9:g.90270485G>C, NG_051641.1:g.42181G>C, NM_020212.2:c.978G>C, NM_020212.1:c.978G>C, NM_001284395.2:c.978G>C, NM_001284395.1:c.978G>C, XM_011521794.3:c.978G>C, XM_011521794.2:c.978G>C, XM_011521794.1:c.978G>C, XM_011521796.3:c.978G>C, XM_011521796.2:c.978G>C, XM_011521796.1:c.978G>C, XM_011521795.2:c.978G>C, XM_011521795.1:c.978G>C, XM_006720614.2:c.978G>C, XM_006720614.1:c.978G>C, XR_931869.2:n.1065G>C, XR_931869.1:n.1065G>C, XM_006720615.2:c.978G>C, XM_006720615.1:c.978G>C, XM_024449994.2:c.384G>C, XM_024449994.1:c.384G>C, XM_006720618.2:c.978G>C, XM_006720618.1:c.978G>C, XM_011521802.2:c.978G>C, XM_011521802.1:c.978G>C, XR_931870.1:n.1065G>C, XM_047432868.1:c.450G>C, XM_047432869.1:c.978G>C, NP_064597.1:p.Trp326Cys, NP_001271324.1:p.Trp326Cys, XP_011520096.1:p.Trp326Cys, XP_011520098.1:p.Trp326Cys, XP_011520097.1:p.Trp326Cys, XP_006720677.1:p.Trp326Cys, XP_006720678.1:p.Trp326Cys, XP_024305762.1:p.Trp128Cys, XP_006720681.1:p.Trp326Cys, XP_011520104.1:p.Trp326Cys, XP_047288824.1:p.Trp150Cys, XP_047288825.1:p.Trp326Cys

Select item 14887666372.

rs1488766637 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:89727327 (GRCh38)
15:90270558 (GRCh37)
Canonical SPDI:: NC_000015.10:89727326:A:G
Gene:: WDR93 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000015.10:g.89727327A>G, NC_000015.9:g.90270558A>G, NG_051641.1:g.42254A>G, NM_020212.2:c.1051A>G, NM_020212.1:c.1051A>G, NM_001284395.2:c.1051A>G, NM_001284395.1:c.1051A>G, XM_011521794.3:c.1051A>G, XM_011521794.2:c.1051A>G, XM_011521794.1:c.1051A>G, XM_011521796.3:c.1051A>G, XM_011521796.2:c.1051A>G, XM_011521796.1:c.1051A>G, XM_011521795.2:c.1051A>G, XM_011521795.1:c.1051A>G, XM_006720614.2:c.1051A>G, XM_006720614.1:c.1051A>G, XR_931869.2:n.1138A>G, XR_931869.1:n.1138A>G, XM_006720615.2:c.1051A>G, XM_006720615.1:c.1051A>G, XM_024449994.2:c.457A>G, XM_024449994.1:c.457A>G, XM_006720618.2:c.1051A>G, XM_006720618.1:c.1051A>G, XM_011521802.2:c.1051A>G, XM_011521802.1:c.1051A>G, XR_931870.1:n.1138A>G, XM_047432868.1:c.523A>G, XM_047432869.1:c.1051A>G, NP_064597.1:p.Ser351Gly, NP_001271324.1:p.Ser351Gly, XP_011520096.1:p.Ser351Gly, XP_011520098.1:p.Ser351Gly, XP_011520097.1:p.Ser351Gly, XP_006720677.1:p.Ser351Gly, XP_006720678.1:p.Ser351Gly, XP_024305762.1:p.Ser153Gly, XP_006720681.1:p.Ser351Gly, XP_011520104.1:p.Arg351Gly, XP_047288824.1:p.Ser175Gly, XP_047288825.1:p.Ser351Gly

Select item 14882879783.

rs1488287978 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:89738106 (GRCh38)
15:90281337 (GRCh37)
Canonical SPDI:: NC_000015.10:89738105:A:G
Gene:: MESP1 (Varview), WDR93 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.89738106A>G, NC_000015.9:g.90281337A>G, NG_051641.1:g.53033A>G, NM_020212.2:c.1831A>G, NM_020212.1:c.1831A>G, NM_001284395.2:c.1747A>G, NM_001284395.1:c.1747A>G, XM_011521794.3:c.1767A>G, XM_011521794.2:c.1767A>G, XM_011521794.1:c.1767A>G, XM_011521795.2:c.1767A>G, XM_011521795.1:c.1767A>G, XM_006720614.2:c.1767A>G, XM_006720614.1:c.1767A>G, XM_006720615.2:c.1680A>G, XM_006720615.1:c.1680A>G, XM_024449994.2:c.1173A>G, XM_024449994.1:c.1173A>G, XM_047432868.1:c.1239A>G, NP_064597.1:p.Asn611Asp, NP_001271324.1:p.Asn583Asp

Select item 14881326334.

rs1488132633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:89703136 (GRCh38)
15:90246367 (GRCh37)
Canonical SPDI:: NC_000015.10:89703135:G:A
Gene:: WDR93 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.89703136G>A, NC_000015.9:g.90246367G>A, NG_051641.1:g.18063G>A, NM_020212.2:c.490G>A, NM_020212.1:c.490G>A, NM_001284395.2:c.490G>A, NM_001284395.1:c.490G>A, NM_001284396.2:c.490G>A, NM_001284396.1:c.490G>A, XM_011521794.3:c.490G>A, XM_011521794.2:c.490G>A, XM_011521794.1:c.490G>A, XM_011521796.3:c.490G>A, XM_011521796.2:c.490G>A, XM_011521796.1:c.490G>A, XM_011521795.2:c.490G>A, XM_011521795.1:c.490G>A, XM_006720614.2:c.490G>A, XM_006720614.1:c.490G>A, XR_931869.2:n.577G>A, XR_931869.1:n.577G>A, XM_006720615.2:c.490G>A, XM_006720615.1:c.490G>A, XM_006720618.2:c.490G>A, XM_006720618.1:c.490G>A, XM_011521802.2:c.490G>A, XM_011521802.1:c.490G>A, XR_931870.1:n.577G>A, XM_047432868.1:c.27G>A, XM_047432869.1:c.490G>A, XM_047432871.1:c.490G>A, NP_064597.1:p.Glu164Lys, NP_001271324.1:p.Glu164Lys, NP_001271325.1:p.Glu164Lys, XP_011520096.1:p.Glu164Lys, XP_011520098.1:p.Glu164Lys, XP_011520097.1:p.Glu164Lys, XP_006720677.1:p.Glu164Lys, XP_006720678.1:p.Glu164Lys, XP_006720681.1:p.Glu164Lys, XP_011520104.1:p.Glu164Lys, XP_047288824.1:p.Met9Ile, XP_047288825.1:p.Glu164Lys, XP_047288827.1:p.Glu164Lys

Select item 14878942195.

rs1487894219 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:89701917 (GRCh38)
15:90245148 (GRCh37)
Canonical SPDI:: NC_000015.10:89701916:T:A
Gene:: WDR93 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.89701917T>A, NC_000015.9:g.90245148T>A, NG_051641.1:g.16844T>A, NM_020212.2:c.171T>A, NM_020212.1:c.171T>A, NM_001284395.2:c.171T>A, NM_001284395.1:c.171T>A, NM_001284396.2:c.171T>A, NM_001284396.1:c.171T>A, XM_011521794.3:c.171T>A, XM_011521794.2:c.171T>A, XM_011521794.1:c.171T>A, XM_011521796.3:c.171T>A, XM_011521796.2:c.171T>A, XM_011521796.1:c.171T>A, XM_011521795.2:c.171T>A, XM_011521795.1:c.171T>A, XM_006720614.2:c.171T>A, XM_006720614.1:c.171T>A, XR_931869.2:n.258T>A, XR_931869.1:n.258T>A, XM_006720615.2:c.171T>A, XM_006720615.1:c.171T>A, XM_006720618.2:c.171T>A, XM_006720618.1:c.171T>A, XM_011521802.2:c.171T>A, XM_011521802.1:c.171T>A, XR_931870.1:n.258T>A, XM_047432869.1:c.171T>A, XM_047432871.1:c.171T>A, NP_064597.1:p.Tyr57Ter, NP_001271324.1:p.Tyr57Ter, NP_001271325.1:p.Tyr57Ter, XP_011520096.1:p.Tyr57Ter, XP_011520098.1:p.Tyr57Ter, XP_011520097.1:p.Tyr57Ter, XP_006720677.1:p.Tyr57Ter, XP_006720678.1:p.Tyr57Ter, XP_006720681.1:p.Tyr57Ter, XP_011520104.1:p.Tyr57Ter, XP_047288825.1:p.Tyr57Ter, XP_047288827.1:p.Tyr57Ter

Select item 14866336116.

rs1486633611 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:89743376 (GRCh38)
15:90286607 (GRCh37)
Canonical SPDI:: NC_000015.10:89743375:G:C
Gene:: MESP1 (Varview), WDR93 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.89743376G>C, NC_000015.9:g.90286607G>C, NG_051641.1:g.58303G>C, NM_020212.2:c.2046G>C, NM_020212.1:c.2046G>C, NM_001284395.2:c.1962G>C, NM_001284395.1:c.1962G>C, XM_011521794.3:c.1982G>C, XM_011521794.2:c.1982G>C, XM_011521794.1:c.1982G>C, XM_011521796.3:c.1908G>C, XM_011521796.2:c.1908G>C, XM_011521796.1:c.1908G>C, XM_011521795.2:c.1982G>C, XM_011521795.1:c.1982G>C, XM_006720614.2:c.1982G>C, XM_006720614.1:c.1982G>C, XR_931869.2:n.2059G>C, XR_931869.1:n.2059G>C, XM_006720615.2:c.1895G>C, XM_006720615.1:c.1895G>C, XM_024449994.2:c.1388G>C, XM_024449994.1:c.1388G>C, XR_001751351.2:n.1316C>G, XR_001751351.1:n.1298C>G, XR_001751350.2:n.1256C>G, XR_001751350.1:n.1238C>G, XM_047432868.1:c.1454G>C, NP_064597.1:p.Glu682Asp, NP_001271324.1:p.Glu654Asp, XP_011520096.1:p.Arg661Thr, XP_011520098.1:p.Glu636Asp, XP_011520097.1:p.Arg661Thr, XP_006720677.1:p.Arg661Thr, XP_006720678.1:p.Arg632Thr, XP_024305762.1:p.Arg463Thr, XP_047288824.1:p.Arg485Thr

Select item 14856713247.

rs1485671324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:89729055 (GRCh38)
15:90272286 (GRCh37)
Canonical SPDI:: NC_000015.10:89729054:G:T
Gene:: WDR93 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.89729055G>T, NC_000015.9:g.90272286G>T, NG_051641.1:g.43982G>T, NM_020212.2:c.1085G>T, NM_020212.1:c.1085G>T, NM_001284395.2:c.1085G>T, NM_001284395.1:c.1085G>T, XM_011521794.3:c.1085G>T, XM_011521794.2:c.1085G>T, XM_011521794.1:c.1085G>T, XM_011521796.3:c.1085G>T, XM_011521796.2:c.1085G>T, XM_011521796.1:c.1085G>T, XM_011521795.2:c.1085G>T, XM_011521795.1:c.1085G>T, XM_006720614.2:c.1085G>T, XM_006720614.1:c.1085G>T, XR_931869.2:n.1172G>T, XR_931869.1:n.1172G>T, XM_006720615.2:c.1085G>T, XM_006720615.1:c.1085G>T, XM_024449994.2:c.491G>T, XM_024449994.1:c.491G>T, XM_006720618.2:c.1085G>T, XM_006720618.1:c.1085G>T, XR_931870.1:n.1172G>T, XM_047432868.1:c.557G>T, NP_064597.1:p.Cys362Phe, NP_001271324.1:p.Cys362Phe, XP_011520096.1:p.Cys362Phe, XP_011520098.1:p.Cys362Phe, XP_011520097.1:p.Cys362Phe, XP_006720677.1:p.Cys362Phe, XP_006720678.1:p.Cys362Phe, XP_024305762.1:p.Cys164Phe, XP_006720681.1:p.Cys362Phe, XP_047288824.1:p.Cys186Phe

Select item 14848565278.

rs1484856527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:89701996 (GRCh38)
15:90245227 (GRCh37)
Canonical SPDI:: NC_000015.10:89701995:G:A
Gene:: WDR93 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_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_000015.10:g.89701996G>A, NC_000015.9:g.90245227G>A, NG_051641.1:g.16923G>A, NM_020212.2:c.250G>A, NM_020212.1:c.250G>A, NM_001284395.2:c.250G>A, NM_001284395.1:c.250G>A, NM_001284396.2:c.250G>A, NM_001284396.1:c.250G>A, XM_011521794.3:c.250G>A, XM_011521794.2:c.250G>A, XM_011521794.1:c.250G>A, XM_011521796.3:c.250G>A, XM_011521796.2:c.250G>A, XM_011521796.1:c.250G>A, XM_011521795.2:c.250G>A, XM_011521795.1:c.250G>A, XM_006720614.2:c.250G>A, XM_006720614.1:c.250G>A, XR_931869.2:n.337G>A, XR_931869.1:n.337G>A, XM_006720615.2:c.250G>A, XM_006720615.1:c.250G>A, XM_006720618.2:c.250G>A, XM_006720618.1:c.250G>A, XM_011521802.2:c.250G>A, XM_011521802.1:c.250G>A, XR_931870.1:n.337G>A, XM_047432869.1:c.250G>A, XM_047432871.1:c.250G>A, NP_064597.1:p.Ala84Thr, NP_001271324.1:p.Ala84Thr, NP_001271325.1:p.Ala84Thr, XP_011520096.1:p.Ala84Thr, XP_011520098.1:p.Ala84Thr, XP_011520097.1:p.Ala84Thr, XP_006720677.1:p.Ala84Thr, XP_006720678.1:p.Ala84Thr, XP_006720681.1:p.Ala84Thr, XP_011520104.1:p.Ala84Thr, XP_047288825.1:p.Ala84Thr, XP_047288827.1:p.Ala84Thr

Select item 14839418749.

rs1483941874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:89701987 (GRCh38)
15:90245218 (GRCh37)
Canonical SPDI:: NC_000015.10:89701986:C:A
Gene:: WDR93 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.89701987C>A, NC_000015.9:g.90245218C>A, NG_051641.1:g.16914C>A, NM_020212.2:c.241C>A, NM_020212.1:c.241C>A, NM_001284395.2:c.241C>A, NM_001284395.1:c.241C>A, NM_001284396.2:c.241C>A, NM_001284396.1:c.241C>A, XM_011521794.3:c.241C>A, XM_011521794.2:c.241C>A, XM_011521794.1:c.241C>A, XM_011521796.3:c.241C>A, XM_011521796.2:c.241C>A, XM_011521796.1:c.241C>A, XM_011521795.2:c.241C>A, XM_011521795.1:c.241C>A, XM_006720614.2:c.241C>A, XM_006720614.1:c.241C>A, XR_931869.2:n.328C>A, XR_931869.1:n.328C>A, XM_006720615.2:c.241C>A, XM_006720615.1:c.241C>A, XM_006720618.2:c.241C>A, XM_006720618.1:c.241C>A, XM_011521802.2:c.241C>A, XM_011521802.1:c.241C>A, XR_931870.1:n.328C>A, XM_047432869.1:c.241C>A, XM_047432871.1:c.241C>A, NP_064597.1:p.Leu81Met, NP_001271324.1:p.Leu81Met, NP_001271325.1:p.Leu81Met, XP_011520096.1:p.Leu81Met, XP_011520098.1:p.Leu81Met, XP_011520097.1:p.Leu81Met, XP_006720677.1:p.Leu81Met, XP_006720678.1:p.Leu81Met, XP_006720681.1:p.Leu81Met, XP_011520104.1:p.Leu81Met, XP_047288825.1:p.Leu81Met, XP_047288827.1:p.Leu81Met

Select item 148263958010.

rs1482639580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:89737617 (GRCh38)
15:90280848 (GRCh37)
Canonical SPDI:: NC_000015.10:89737616:G:A
Gene:: MESP1 (Varview), WDR93 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
HGVS:: NC_000015.10:g.89737617G>A, NC_000015.9:g.90280848G>A, NG_051641.1:g.52544G>A, NM_020212.2:c.1653G>A, NM_020212.1:c.1653G>A, NM_001284395.2:c.1569G>A, NM_001284395.1:c.1569G>A, XM_011521794.3:c.1589G>A, XM_011521794.2:c.1589G>A, XM_011521794.1:c.1589G>A, XM_011521796.3:c.1589G>A, XM_011521796.2:c.1589G>A, XM_011521796.1:c.1589G>A, XM_011521795.2:c.1589G>A, XM_011521795.1:c.1589G>A, XM_006720614.2:c.1589G>A, XM_006720614.1:c.1589G>A, XR_931869.2:n.1740G>A, XR_931869.1:n.1740G>A, XM_006720615.2:c.1502G>A, XM_006720615.1:c.1502G>A, XM_024449994.2:c.995G>A, XM_024449994.1:c.995G>A, XR_931870.1:n.1915G>A, XM_047432868.1:c.1061G>A, XP_011520096.1:p.Trp530Ter, XP_011520098.1:p.Trp530Ter, XP_011520097.1:p.Trp530Ter, XP_006720677.1:p.Trp530Ter, XP_006720678.1:p.Trp501Ter, XP_024305762.1:p.Trp332Ter, XP_047288824.1:p.Trp354Ter

Select item 148072238111.

rs1480722381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:89712051 (GRCh38)
15:90255282 (GRCh37)
Canonical SPDI:: NC_000015.10:89712050:G:A
Gene:: WDR93 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.89712051G>A, NC_000015.9:g.90255282G>A, NG_051641.1:g.26978G>A, NM_020212.2:c.587G>A, NM_020212.1:c.587G>A, NM_001284395.2:c.587G>A, NM_001284395.1:c.587G>A, XM_011521794.3:c.587G>A, XM_011521794.2:c.587G>A, XM_011521794.1:c.587G>A, XM_011521796.3:c.587G>A, XM_011521796.2:c.587G>A, XM_011521796.1:c.587G>A, XM_011521795.2:c.587G>A, XM_011521795.1:c.587G>A, XM_006720614.2:c.587G>A, XM_006720614.1:c.587G>A, XR_931869.2:n.674G>A, XR_931869.1:n.674G>A, XM_006720615.2:c.587G>A, XM_006720615.1:c.587G>A, XM_024449994.2:c.-8G>A, XM_024449994.1:c.-8G>A, XM_006720618.2:c.587G>A, XM_006720618.1:c.587G>A, XM_011521802.2:c.587G>A, XM_011521802.1:c.587G>A, XR_931870.1:n.674G>A, XM_047432868.1:c.59G>A, XM_047432869.1:c.587G>A, NP_064597.1:p.Cys196Tyr, NP_001271324.1:p.Cys196Tyr, XP_011520096.1:p.Cys196Tyr, XP_011520098.1:p.Cys196Tyr, XP_011520097.1:p.Cys196Tyr, XP_006720677.1:p.Cys196Tyr, XP_006720678.1:p.Cys196Tyr, XP_006720681.1:p.Cys196Tyr, XP_011520104.1:p.Cys196Tyr, XP_047288824.1:p.Cys20Tyr, XP_047288825.1:p.Cys196Tyr

Select item 147846825312.

rs1478468253 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:89733126 (GRCh38)
15:90276357 (GRCh37)
Canonical SPDI:: NC_000015.10:89733125:A:C
Gene:: MESP1 (Varview), WDR93 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.89733126A>C, NC_000015.9:g.90276357A>C, NG_051641.1:g.48053A>C, NM_020212.2:c.1451A>C, NM_020212.1:c.1451A>C, NM_001284395.2:c.1367A>C, NM_001284395.1:c.1367A>C, XM_011521794.3:c.1451A>C, XM_011521794.2:c.1451A>C, XM_011521794.1:c.1451A>C, XM_011521796.3:c.1451A>C, XM_011521796.2:c.1451A>C, XM_011521796.1:c.1451A>C, XM_011521795.2:c.1451A>C, XM_011521795.1:c.1451A>C, XM_006720614.2:c.1451A>C, XM_006720614.1:c.1451A>C, XR_931869.2:n.1538A>C, XR_931869.1:n.1538A>C, XM_006720615.2:c.1364A>C, XM_006720615.1:c.1364A>C, XM_024449994.2:c.857A>C, XM_024449994.1:c.857A>C, XR_007064473.1:n.2503T>G, XR_931870.1:n.1538A>C, XM_047432868.1:c.923A>C, NP_064597.1:p.Gln484Pro, NP_001271324.1:p.Gln456Pro, XP_011520096.1:p.Gln484Pro, XP_011520098.1:p.Gln484Pro, XP_011520097.1:p.Gln484Pro, XP_006720677.1:p.Gln484Pro, XP_006720678.1:p.Gln455Pro, XP_024305762.1:p.Gln286Pro, XP_047288824.1:p.Gln308Pro

Select item 147846545413.

rs1478465454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:89731456 (GRCh38)
15:90274687 (GRCh37)
Canonical SPDI:: NC_000015.10:89731455:G:C
Gene:: WDR93 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.89731456G>C, NC_000015.9:g.90274687G>C, NG_051641.1:g.46383G>C, NM_020212.2:c.1224G>C, NM_020212.1:c.1224G>C, NM_001284395.2:c.1224G>C, NM_001284395.1:c.1224G>C, XM_011521794.3:c.1224G>C, XM_011521794.2:c.1224G>C, XM_011521794.1:c.1224G>C, XM_011521796.3:c.1224G>C, XM_011521796.2:c.1224G>C, XM_011521796.1:c.1224G>C, XM_011521795.2:c.1224G>C, XM_011521795.1:c.1224G>C, XM_006720614.2:c.1224G>C, XM_006720614.1:c.1224G>C, XR_931869.2:n.1311G>C, XR_931869.1:n.1311G>C, XM_006720615.2:c.1137G>C, XM_006720615.1:c.1137G>C, XM_024449994.2:c.630G>C, XM_024449994.1:c.630G>C, XM_006720618.2:c.1224G>C, XM_006720618.1:c.1224G>C, XR_931870.1:n.1311G>C, XM_047432868.1:c.696G>C

Select item 147775118014.

rs1477751180 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:89737610 (GRCh38)
15:90280841 (GRCh37)
Canonical SPDI:: NC_000015.10:89737609:T:C
Gene:: MESP1 (Varview), WDR93 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.89737610T>C, NC_000015.9:g.90280841T>C, NG_051641.1:g.52537T>C, NM_020212.2:c.1646T>C, NM_020212.1:c.1646T>C, NM_001284395.2:c.1562T>C, NM_001284395.1:c.1562T>C, XM_011521794.3:c.1582T>C, XM_011521794.2:c.1582T>C, XM_011521794.1:c.1582T>C, XM_011521796.3:c.1582T>C, XM_011521796.2:c.1582T>C, XM_011521796.1:c.1582T>C, XM_011521795.2:c.1582T>C, XM_011521795.1:c.1582T>C, XM_006720614.2:c.1582T>C, XM_006720614.1:c.1582T>C, XR_931869.2:n.1733T>C, XR_931869.1:n.1733T>C, XM_006720615.2:c.1495T>C, XM_006720615.1:c.1495T>C, XM_024449994.2:c.988T>C, XM_024449994.1:c.988T>C, XR_931870.1:n.1908T>C, XM_047432868.1:c.1054T>C, NP_064597.1:p.Met549Thr, NP_001271324.1:p.Met521Thr, XP_011520096.1:p.Trp528Arg, XP_011520098.1:p.Trp528Arg, XP_011520097.1:p.Trp528Arg, XP_006720677.1:p.Trp528Arg, XP_006720678.1:p.Trp499Arg, XP_024305762.1:p.Trp330Arg, XP_047288824.1:p.Trp352Arg

Select item 147688822715.

rs1476888227 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:89743391 (GRCh38)
15:90286622 (GRCh37)
Canonical SPDI:: NC_000015.10:89743390:A:T
Gene:: MESP1 (Varview), WDR93 (Varview)
Functional Consequence:: stop_lost,intron_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,terminator_codon_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.89743391A>T, NC_000015.9:g.90286622A>T, NG_051641.1:g.58318A>T, NM_020212.2:c.2061A>T, NM_020212.1:c.2061A>T, NM_001284395.2:c.1977A>T, NM_001284395.1:c.1977A>T, XM_011521794.3:c.1997A>T, XM_011521794.2:c.1997A>T, XM_011521794.1:c.1997A>T, XM_011521796.3:c.1923A>T, XM_011521796.2:c.1923A>T, XM_011521796.1:c.1923A>T, XM_011521795.2:c.1997A>T, XM_011521795.1:c.1997A>T, XM_006720614.2:c.1997A>T, XM_006720614.1:c.1997A>T, XR_931869.2:n.2074A>T, XM_006720615.2:c.1910A>T, XM_006720615.1:c.1910A>T, XM_024449994.2:c.1403A>T, XM_024449994.1:c.1403A>T, XR_001751351.2:n.1301T>A, XR_001751351.1:n.1283T>A, XR_001751350.2:n.1241T>A, XR_001751350.1:n.1223T>A, XM_047432868.1:c.1469A>T, NP_064597.1:p.Ter687Cys, NP_001271324.1:p.Ter659Cys, XP_011520096.1:p.Glu666Val, XP_011520098.1:p.Ter641Cys, XP_011520097.1:p.Glu666Val, XP_006720677.1:p.Glu666Val, XP_006720678.1:p.Glu637Val, XP_024305762.1:p.Glu468Val, XP_047288824.1:p.Glu490Val

Select item 147310431116.

rs1473104311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:89743537 (GRCh38)
15:90286768 (GRCh37)
Canonical SPDI:: NC_000015.10:89743536:G:A,NC_000015.10:89743536:G:C
Gene:: MESP1 (Varview), WDR93 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000015.10:g.89743537G>A, NC_000015.10:g.89743537G>C, NC_000015.9:g.90286768G>A, NC_000015.9:g.90286768G>C, NG_051641.1:g.58464G>A, NG_051641.1:g.58464G>C, NM_020212.2:c.*146G>A, NM_020212.2:c.*146G>C, NM_020212.1:c.*146G>A, NM_020212.1:c.*146G>C, NM_001284395.2:c.*146G>A, NM_001284395.2:c.*146G>C, NM_001284395.1:c.*146G>A, NM_001284395.1:c.*146G>C, XM_011521794.3:c.2143G>A, XM_011521794.3:c.2143G>C, XM_011521794.2:c.2143G>A, XM_011521794.2:c.2143G>C, XM_011521794.1:c.2143G>A, XM_011521794.1:c.2143G>C, XM_011521796.3:c.*146G>A, XM_011521796.3:c.*146G>C, XM_011521796.2:c.*146G>A, XM_011521796.2:c.*146G>C, XM_011521796.1:c.*146G>A, XM_011521796.1:c.*146G>C, XM_011521795.2:c.2143G>A, XM_011521795.2:c.2143G>C, XM_011521795.1:c.2143G>A, XM_011521795.1:c.2143G>C, XM_006720614.2:c.2143G>A, XM_006720614.2:c.2143G>C, XM_006720614.1:c.2143G>A, XM_006720614.1:c.2143G>C, XR_931869.2:n.2220G>A, XR_931869.2:n.2220G>C, XM_006720615.2:c.2056G>A, XM_006720615.2:c.2056G>C, XM_006720615.1:c.2056G>A, XM_006720615.1:c.2056G>C, XM_024449994.2:c.1549G>A, XM_024449994.2:c.1549G>C, XM_024449994.1:c.1549G>A, XM_024449994.1:c.1549G>C, XM_047432868.1:c.1615G>A, XM_047432868.1:c.1615G>C, XP_011520096.1:p.Gly715Arg, XP_011520096.1:p.Gly715Arg, XP_011520097.1:p.Gly715Arg, XP_011520097.1:p.Gly715Arg, XP_006720677.1:p.Gly715Arg, XP_006720677.1:p.Gly715Arg, XP_006720678.1:p.Gly686Arg, XP_006720678.1:p.Gly686Arg, XP_024305762.1:p.Gly517Arg, XP_024305762.1:p.Gly517Arg, XP_047288824.1:p.Gly539Arg, XP_047288824.1:p.Gly539Arg

Select item 147189565917.

rs1471895659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:89703072 (GRCh38)
15:90246303 (GRCh37)
Canonical SPDI:: NC_000015.10:89703071:G:A
Gene:: WDR93 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.89703072G>A, NC_000015.9:g.90246303G>A, NG_051641.1:g.17999G>A, NM_020212.2:c.426G>A, NM_020212.1:c.426G>A, NM_001284395.2:c.426G>A, NM_001284395.1:c.426G>A, NM_001284396.2:c.426G>A, NM_001284396.1:c.426G>A, XM_011521794.3:c.426G>A, XM_011521794.2:c.426G>A, XM_011521794.1:c.426G>A, XM_011521796.3:c.426G>A, XM_011521796.2:c.426G>A, XM_011521796.1:c.426G>A, XM_011521795.2:c.426G>A, XM_011521795.1:c.426G>A, XM_006720614.2:c.426G>A, XM_006720614.1:c.426G>A, XR_931869.2:n.513G>A, XR_931869.1:n.513G>A, XM_006720615.2:c.426G>A, XM_006720615.1:c.426G>A, XM_006720618.2:c.426G>A, XM_006720618.1:c.426G>A, XM_011521802.2:c.426G>A, XM_011521802.1:c.426G>A, XR_931870.1:n.513G>A, XM_047432868.1:c.-38G>A, XM_047432869.1:c.426G>A, XM_047432871.1:c.426G>A

Select item 147125161018.

rs1471251610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:89715095 (GRCh38)
15:90258326 (GRCh37)
Canonical SPDI:: NC_000015.10:89715094:G:A
Gene:: WDR93 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.89715095G>A, NC_000015.9:g.90258326G>A, NG_051641.1:g.30022G>A, NM_020212.2:c.756G>A, NM_020212.1:c.756G>A, NM_001284395.2:c.756G>A, NM_001284395.1:c.756G>A, XM_011521794.3:c.756G>A, XM_011521794.2:c.756G>A, XM_011521794.1:c.756G>A, XM_011521796.3:c.756G>A, XM_011521796.2:c.756G>A, XM_011521796.1:c.756G>A, XM_011521795.2:c.756G>A, XM_011521795.1:c.756G>A, XM_006720614.2:c.756G>A, XM_006720614.1:c.756G>A, XR_931869.2:n.843G>A, XR_931869.1:n.843G>A, XM_006720615.2:c.756G>A, XM_006720615.1:c.756G>A, XM_024449994.2:c.162G>A, XM_024449994.1:c.162G>A, XM_006720618.2:c.756G>A, XM_006720618.1:c.756G>A, XM_011521802.2:c.756G>A, XM_011521802.1:c.756G>A, XR_931870.1:n.843G>A, XM_047432868.1:c.228G>A, XM_047432869.1:c.756G>A

Select item 147039815819.

rs1470398158 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCACTGG>- [Show Flanks]
Chromosome:: 15:89743330 (GRCh38)
15:90286561 (GRCh37)
Canonical SPDI:: NC_000015.10:89743327:GGAGCACTGG:GG
Gene:: MESP1 (Varview), WDR93 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.89743330_89743337del, NC_000015.9:g.90286561_90286568del, NG_051641.1:g.58257_58264del, NM_020212.2:c.2000_2007del, NM_020212.1:c.2000_2007del, NM_001284395.2:c.1916_1923del, NM_001284395.1:c.1916_1923del, XM_011521794.3:c.1936_1943del, XM_011521794.2:c.1936_1943del, XM_011521794.1:c.1936_1943del, XM_011521796.3:c.1862_1869del, XM_011521796.2:c.1862_1869del, XM_011521796.1:c.1862_1869del, XM_011521795.2:c.1936_1943del, XM_011521795.1:c.1936_1943del, XM_006720614.2:c.1936_1943del, XM_006720614.1:c.1936_1943del, XR_931869.2:n.2013_2020del, XR_931869.1:n.2013_2020del, XM_006720615.2:c.1849_1856del, XM_006720615.1:c.1849_1856del, XM_024449994.2:c.1342_1349del, XM_024449994.1:c.1342_1349del, XM_047432868.1:c.1408_1415del, NP_064597.1:p.Glu667fs, NP_001271324.1:p.Glu639fs, XP_011520096.1:p.Ser646fs, XP_011520098.1:p.Glu621fs, XP_011520097.1:p.Ser646fs, XP_006720677.1:p.Ser646fs, XP_006720678.1:p.Ser617fs, XP_024305762.1:p.Ser448fs, XP_047288824.1:p.Ser470fs

Select item 146906416220.

rs1469064162 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:89716936 (GRCh38)
15:90260167 (GRCh37)
Canonical SPDI:: NC_000015.10:89716935:A:G
Gene:: WDR93 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000015.10:g.89716936A>G, NC_000015.9:g.90260167A>G, NG_051641.1:g.31863A>G, NM_020212.2:c.782A>G, NM_020212.1:c.782A>G, NM_001284395.2:c.782A>G, NM_001284395.1:c.782A>G, XM_011521794.3:c.782A>G, XM_011521794.2:c.782A>G, XM_011521794.1:c.782A>G, XM_011521796.3:c.782A>G, XM_011521796.2:c.782A>G, XM_011521796.1:c.782A>G, XM_011521795.2:c.782A>G, XM_011521795.1:c.782A>G, XM_006720614.2:c.782A>G, XM_006720614.1:c.782A>G, XR_931869.2:n.869A>G, XR_931869.1:n.869A>G, XM_006720615.2:c.782A>G, XM_006720615.1:c.782A>G, XM_024449994.2:c.188A>G, XM_024449994.1:c.188A>G, XM_006720618.2:c.782A>G, XM_006720618.1:c.782A>G, XM_011521802.2:c.782A>G, XM_011521802.1:c.782A>G, XR_931870.1:n.869A>G, XM_047432868.1:c.254A>G, XM_047432869.1:c.782A>G, NP_064597.1:p.Asp261Gly, NP_001271324.1:p.Asp261Gly, XP_011520096.1:p.Asp261Gly, XP_011520098.1:p.Asp261Gly, XP_011520097.1:p.Asp261Gly, XP_006720677.1:p.Asp261Gly, XP_006720678.1:p.Asp261Gly, XP_024305762.1:p.Asp63Gly, XP_006720681.1:p.Asp261Gly, XP_011520104.1:p.Asp261Gly, XP_047288824.1:p.Asp85Gly, XP_047288825.1:p.Asp261Gly

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