SNP Links for Gene (Select 11180) - SNP

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Select item 14906272731.

rs1490627273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49011362 (GRCh38)
3:49048795 (GRCh37)
Canonical SPDI:: NC_000003.12:49011361:A:G
Gene:: WDR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.49011362A>G, NC_000003.11:g.49048795A>G, NG_029915.1:g.9159A>G

Select item 14906097872.

rs1490609787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:49010233 (GRCh38)
3:49047666 (GRCh37)
Canonical SPDI:: NC_000003.12:49010232:C:G,NC_000003.12:49010232:C:T
Gene:: WDR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000184/3 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000074/10 (GnomAD)
T=0.00067/3 (Estonian)
T=0.00203/13 (1000Genomes)
T=0.003256/55 (TOMMO)
T=0.005818/17 (KOREAN)
HGVS:: NC_000003.12:g.49010233C>G, NC_000003.12:g.49010233C>T, NC_000003.11:g.49047666C>G, NC_000003.11:g.49047666C>T, NG_029915.1:g.8030C>G, NG_029915.1:g.8030C>T

Select item 14905676253.

rs1490567625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:49014243 (GRCh38)
3:49051676 (GRCh37)
Canonical SPDI:: NC_000003.12:49014242:G:C
Gene:: WDR6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.49014243G>C, NC_000003.11:g.49051676G>C, NG_029915.1:g.12040G>C, NM_018031.6:c.2616G>C, NM_018031.5:c.2616G>C, NM_018031.4:c.2706G>C, NM_018031.3:c.2706G>C, NM_001320546.3:c.2538G>C, NM_001320546.2:c.2538G>C, NM_001320546.1:c.2538G>C, NM_001320547.2:c.2463G>C, NM_001320547.1:c.2463G>C, NG_033126.1:g.11829C>G, XM_047447371.1:c.2616G>C, NM_052826.1:c.120G>C, NP_060501.4:p.Gln872His, NP_001307475.1:p.Gln846His, NP_001307476.1:p.Gln821His, XP_047303327.1:p.Gln872His

Select item 14905179494.

rs1490517949 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAC [Show Flanks]
Chromosome:: 3:49010526 (GRCh38)
3:49047960 (GRCh37)
Canonical SPDI:: NC_000003.12:49010526:CCAAC:CCAACCAAC
Gene:: WDR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCAACCAAC=0./0 (ALFA)
CCAA=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.49010528_49010531dup, NC_000003.11:g.49047961_49047964dup, NG_029915.1:g.8325_8328dup

Select item 14901942005.

rs1490194200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49009618 (GRCh38)
3:49047051 (GRCh37)
Canonical SPDI:: NC_000003.12:49009617:A:G
Gene:: WDR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.49009618A>G, NC_000003.11:g.49047051A>G, NG_029915.1:g.7415A>G

Select item 14896037606.

rs1489603760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49010108 (GRCh38)
3:49047541 (GRCh37)
Canonical SPDI:: NC_000003.12:49010107:T:C
Gene:: WDR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49010108T>C, NC_000003.11:g.49047541T>C, NG_029915.1:g.7905T>C

Select item 14895156527.

rs1489515652 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:49013696 (GRCh38)
3:49051129 (GRCh37)
Canonical SPDI:: NC_000003.12:49013695:T:A
Gene:: WDR6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.49013696T>A, NC_000003.11:g.49051129T>A, NG_029915.1:g.11493T>A, NM_018031.6:c.2162T>A, NM_018031.5:c.2162T>A, NM_018031.4:c.2252T>A, NM_018031.3:c.2252T>A, NM_001320546.3:c.2084T>A, NM_001320546.2:c.2084T>A, NM_001320546.1:c.2084T>A, NM_001320547.2:c.2009T>A, NM_001320547.1:c.2009T>A, NG_033126.1:g.12376A>T, XM_047447371.1:c.2162T>A, NP_060501.4:p.Val721Glu, NP_001307475.1:p.Val695Glu, NP_001307476.1:p.Val670Glu, XP_047303327.1:p.Val721Glu

Select item 14894024308.

rs1489402430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49010889 (GRCh38)
3:49048322 (GRCh37)
Canonical SPDI:: NC_000003.12:49010888:C:T
Gene:: WDR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
T=0.000071/1 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.49010889C>T, NC_000003.11:g.49048322C>T, NG_029915.1:g.8686C>T

Select item 14893196069.

rs1489319606 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:49008855 (GRCh38)
3:49046289 (GRCh37)
Canonical SPDI:: NC_000003.12:49008855:C:CC
Gene:: WDR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49008856dup, NC_000003.11:g.49046289dup, NG_029915.1:g.6653dup

Select item 148897019810.

rs1488970198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:49008112 (GRCh38)
3:49045545 (GRCh37)
Canonical SPDI:: NC_000003.12:49008111:A:G,NC_000003.12:49008111:A:T
Gene:: WDR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
T=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.49008112A>G, NC_000003.12:g.49008112A>T, NC_000003.11:g.49045545A>G, NC_000003.11:g.49045545A>T, NG_029915.1:g.5909A>G, NG_029915.1:g.5909A>T

Select item 148877131411.

rs1488771314 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:49005369 (GRCh38)
3:49042802 (GRCh37)
Canonical SPDI:: NC_000003.12:49005368:T:A,NC_000003.12:49005368:T:C
Gene:: P4HTM (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.49005369T>A, NC_000003.12:g.49005369T>C, NC_000003.11:g.49042802T>A, NC_000003.11:g.49042802T>C, NG_029915.1:g.3166T>A, NG_029915.1:g.3166T>C, NM_017732.3:c.*124T>A, NM_017732.3:c.*124T>C, NM_017732.2:c.*124T>A, NM_017732.2:c.*124T>C, NM_017732.1:c.*124T>A, NM_017732.1:c.*124T>C

Select item 148852126412.

rs1488521264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:49012930 (GRCh38)
3:49050363 (GRCh37)
Canonical SPDI:: NC_000003.12:49012929:G:C
Gene:: WDR6 (Varview)
Functional Consequence:: 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)
HGVS:: NC_000003.12:g.49012930G>C, NC_000003.11:g.49050363G>C, NG_029915.1:g.10727G>C, NM_018031.6:c.1396G>C, NM_018031.5:c.1396G>C, NM_018031.4:c.1486G>C, NM_018031.3:c.1486G>C, NM_001320546.3:c.1318G>C, NM_001320546.2:c.1318G>C, NM_001320546.1:c.1318G>C, NM_001320547.2:c.1243G>C, NM_001320547.1:c.1243G>C, XM_047447371.1:c.1396G>C, NP_060501.4:p.Glu466Gln, NP_001307475.1:p.Glu440Gln, NP_001307476.1:p.Glu415Gln, XP_047303327.1:p.Glu466Gln

Select item 148842431013.

rs1488424310 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:49010628 (GRCh38)
3:49048061 (GRCh37)
Canonical SPDI:: NC_000003.12:49010627:A:T
Gene:: WDR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49010628A>T, NC_000003.11:g.49048061A>T, NG_029915.1:g.8425A>T

Select item 148830240714.

rs1488302407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49007998 (GRCh38)
3:49045431 (GRCh37)
Canonical SPDI:: NC_000003.12:49007997:A:G
Gene:: WDR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.49007998A>G, NC_000003.11:g.49045431A>G, NG_029915.1:g.5795A>G

Select item 148807602115.

rs1488076021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:49013587 (GRCh38)
3:49051020 (GRCh37)
Canonical SPDI:: NC_000003.12:49013586:C:G
Gene:: WDR6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49013587C>G, NC_000003.11:g.49051020C>G, NG_029915.1:g.11384C>G, NM_018031.6:c.2053C>G, NM_018031.5:c.2053C>G, NM_018031.4:c.2143C>G, NM_018031.3:c.2143C>G, NM_001320546.3:c.1975C>G, NM_001320546.2:c.1975C>G, NM_001320546.1:c.1975C>G, NM_001320547.2:c.1900C>G, NM_001320547.1:c.1900C>G, NG_033126.1:g.12485G>C, XM_047447371.1:c.2053C>G, NP_060501.4:p.Leu685Val, NP_001307475.1:p.Leu659Val, NP_001307476.1:p.Leu634Val, XP_047303327.1:p.Leu685Val

Select item 148796416816.

rs1487964168 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:49015817 (GRCh38)
3:49053250 (GRCh37)
Canonical SPDI:: NC_000003.12:49015816:A:T
Gene:: WDR6 (Varview), DALRD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49015817A>T, NC_000003.11:g.49053250A>T, NG_029915.1:g.13614A>T, NM_018031.6:c.*529A>T, NM_018031.5:c.*529A>T, NM_018031.4:c.*529A>T, NM_018031.3:c.*529A>T, NM_001320546.3:c.*529A>T, NM_001320546.2:c.*529A>T, NM_001320546.1:c.*529A>T, NM_001320547.2:c.*529A>T, NM_001320547.1:c.*529A>T, NG_033126.1:g.10255T>A, NM_018114.6:c.998T>A, NM_018114.5:c.998T>A, NM_001009996.3:c.1499T>A, NM_001009996.2:c.1499T>A, NM_001276405.2:c.1473T>A, NM_001276405.1:c.1473T>A, NG_016282.1:g.343A>T, XM_006713219.3:c.998T>A, XM_006713219.2:c.998T>A, XM_006713219.1:c.998T>A, XM_011533891.3:c.1599T>A, XM_011533891.2:c.1599T>A, XM_011533891.1:c.1599T>A, XM_017006723.2:c.972T>A, XM_017006723.1:c.972T>A, XM_047448436.1:c.1499T>A, XM_047448437.1:c.1499T>A, XM_047448438.1:c.998T>A, NM_052826.1:c.*529A>T, NM_052825.1:c.640A>T, NP_060584.3:p.Val333Glu, NP_001009996.1:p.Val500Glu, XP_006713282.1:p.Val333Glu, XP_047304392.1:p.Val500Glu, XP_047304393.1:p.Val500Glu, XP_047304394.1:p.Val333Glu

Select item 148675848617.

rs1486758486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49014818 (GRCh38)
3:49052251 (GRCh37)
Canonical SPDI:: NC_000003.12:49014817:C:T
Gene:: WDR6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/5 (GnomAD_exomes)
T=0.000057/8 (GnomAD)
T=0.00006/16 (TOPMED)
HGVS:: NC_000003.12:g.49014818C>T, NC_000003.11:g.49052251C>T, NG_029915.1:g.12615C>T, NG_033126.1:g.11254G>A

Select item 148625013018.

rs1486250130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:49008880 (GRCh38)
3:49046313 (GRCh37)
Canonical SPDI:: NC_000003.12:49008879:G:T
Gene:: WDR6 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000003.12:g.49008880G>T, NC_000003.11:g.49046313G>T, NG_029915.1:g.6677G>T

Select item 148594296019.

rs1485942960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49010819 (GRCh38)
3:49048252 (GRCh37)
Canonical SPDI:: NC_000003.12:49010818:C:T
Gene:: WDR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000003.12:g.49010819C>T, NC_000003.11:g.49048252C>T, NG_029915.1:g.8616C>T

Select item 148585129620.

rs1485851296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49006566 (GRCh38)
3:49043999 (GRCh37)
Canonical SPDI:: NC_000003.12:49006565:G:A
Gene:: WDR6 (Varview), P4HTM (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.49006566G>A, NC_000003.11:g.49043999G>A, NG_029915.1:g.4363G>A

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