SNP Links for Gene (Select 9277) - SNP

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Select item 14913888841.

rs1491388884 has merged into rs199982369 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 6:33284261 (GRCh38)
6:33252038 (GRCh37)
Canonical SPDI:: NC_000006.12:33284249:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:33284249:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:33284249:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:33284249:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:33284249:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:33284249:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: WDR46 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.33284261_33284265del, NC_000006.12:g.33284263_33284265del, NC_000006.12:g.33284264_33284265del, NC_000006.12:g.33284265del, NC_000006.12:g.33284265dup, NC_000006.12:g.33284264_33284265dup, NC_000006.11:g.33252038_33252042del, NC_000006.11:g.33252040_33252042del, NC_000006.11:g.33252041_33252042del, NC_000006.11:g.33252042del, NC_000006.11:g.33252042dup, NC_000006.11:g.33252041_33252042dup, NT_113891.3:g.4695742_4695746del, NT_113891.3:g.4695744_4695746del, NT_113891.3:g.4695745_4695746del, NT_113891.3:g.4695746del, NT_113891.3:g.4695746dup, NT_113891.3:g.4695745_4695746dup, NT_113891.2:g.4695848_4695852del, NT_113891.2:g.4695850_4695852del, NT_113891.2:g.4695851_4695852del, NT_113891.2:g.4695852del, NT_113891.2:g.4695852dup, NT_113891.2:g.4695851_4695852dup, NT_167248.2:g.4478681_4478685del, NT_167248.2:g.4478683_4478685del, NT_167248.2:g.4478684_4478685del, NT_167248.2:g.4478685del, NT_167248.2:g.4478685dup, NT_167248.2:g.4478684_4478685dup, NT_167248.1:g.4484277_4484281del, NT_167248.1:g.4484279_4484281del, NT_167248.1:g.4484280_4484281del, NT_167248.1:g.4484281del, NT_167248.1:g.4484281dup, NT_167248.1:g.4484280_4484281dup, NT_167245.2:g.4527775_4527779del, NT_167245.2:g.4527777_4527779del, NT_167245.2:g.4527778_4527779del, NT_167245.2:g.4527779del, NT_167245.2:g.4527779dup, NT_167245.2:g.4527778_4527779dup, NT_167245.1:g.4533360_4533364del, NT_167245.1:g.4533362_4533364del, NT_167245.1:g.4533363_4533364del, NT_167245.1:g.4533364del, NT_167245.1:g.4533364dup, NT_167245.1:g.4533363_4533364dup, NT_167247.2:g.4720197_4720201del, NT_167247.2:g.4720199_4720201del, NT_167247.2:g.4720200_4720201del, NT_167247.2:g.4720201del, NT_167247.2:g.4720201dup, NT_167247.2:g.4720200_4720201dup, NT_167247.1:g.4725782_4725786del, NT_167247.1:g.4725784_4725786del, NT_167247.1:g.4725785_4725786del, NT_167247.1:g.4725786del, NT_167247.1:g.4725786dup, NT_167247.1:g.4725785_4725786dup

Select item 14912307522.

rs1491230752 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:33284249 (GRCh38)
6:33252026 (GRCh37)
Canonical SPDI:: NC_000006.12:33284248:CA:
Gene:: WDR46 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33284249_33284250del, NC_000006.11:g.33252026_33252027del, NT_113891.3:g.4695730_4695731del, NT_113891.2:g.4695836_4695837del, NT_167248.2:g.4478669_4478670del, NT_167248.1:g.4484265_4484266del, NT_167245.2:g.4527763_4527764del, NT_167245.1:g.4533348_4533349del, NT_167247.2:g.4720185_4720186del, NT_167247.1:g.4725770_4725771del

Select item 14909276743.

rs1490927674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33279684 (GRCh38)
6:33247461 (GRCh37)
Canonical SPDI:: NC_000006.12:33279683:G:A
Gene:: WDR46 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33279684G>A, NC_000006.11:g.33247461G>A, NT_113891.3:g.4691165G>A, NT_113891.2:g.4691271G>A, NT_167248.2:g.4474104G>A, NT_167248.1:g.4479700G>A, NT_167245.2:g.4523198G>A, NT_167245.1:g.4528783G>A, NT_167247.2:g.4715650G>A, NT_167247.1:g.4721235G>A

Select item 14907780944.

rs1490778094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:33286423 (GRCh38)
6:33254200 (GRCh37)
Canonical SPDI:: NC_000006.12:33286422:G:C
Gene:: WDR46 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.33286423G>C, NC_000006.11:g.33254200G>C, NT_113891.3:g.4697907G>C, NT_113891.2:g.4698013G>C, NT_167248.2:g.4480846G>C, NT_167248.1:g.4486442G>C, NT_167245.2:g.4529940G>C, NT_167245.1:g.4535525G>C, NT_167247.2:g.4722359G>C, NT_167247.1:g.4727944G>C

Select item 14905222485.

rs1490522248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33279082 (GRCh38)
6:33246859 (GRCh37)
Canonical SPDI:: NC_000006.12:33279081:G:A
Gene:: B3GALT4 (Varview), WDR46 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.33279082G>A, NC_000006.11:g.33246859G>A, NT_113891.3:g.4690563G>A, NT_113891.2:g.4690669G>A, NT_167248.2:g.4473502G>A, NT_167248.1:g.4479098G>A, NT_167245.2:g.4522596G>A, NT_167245.1:g.4528181G>A, NT_167247.2:g.4715048G>A, NT_167247.1:g.4720633G>A

Select item 14903506386.

rs1490350638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33290390 (GRCh38)
6:33258167 (GRCh37)
Canonical SPDI:: NC_000006.12:33290389:A:G
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_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_000006.12:g.33290390A>G, NC_000006.11:g.33258167A>G, NT_113891.3:g.4701875A>G, NT_113891.2:g.4701981A>G, NT_167248.2:g.4484814A>G, NT_167248.1:g.4490410A>G, NT_167245.2:g.4533908A>G, NT_167245.1:g.4539493A>G, NT_167247.2:g.4726326A>G, NT_167247.1:g.4731911A>G, NM_014260.4:c.200A>G, NM_014260.3:c.200A>G, NM_001185181.3:c.200A>G, NM_001185181.2:c.200A>G, NM_001265596.1:c.200A>G, NM_001265595.2:c.200A>G, NM_001265595.1:c.200A>G, XM_047418077.1:c.200A>G, NP_055075.1:p.Gln67Arg, NP_001172110.1:p.Gln67Arg, NP_001252525.1:p.Gln67Arg, NP_001252524.1:p.Gln67Arg, XP_047274033.1:p.Gln67Arg

Select item 14902466087.

rs1490246608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:33279053 (GRCh38)
6:33246830 (GRCh37)
Canonical SPDI:: NC_000006.12:33279052:C:A
Gene:: B3GALT4 (Varview), WDR46 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33279053C>A, NC_000006.11:g.33246830C>A, NT_113891.3:g.4690534C>A, NT_113891.2:g.4690640C>A, NT_167248.2:g.4473473C>A, NT_167248.1:g.4479069C>A, NT_167245.2:g.4522567C>A, NT_167245.1:g.4528152C>A, NT_167247.2:g.4715019C>A, NT_167247.1:g.4720604C>A

Select item 14901956408.

rs1490195640 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33280141 (GRCh38)
6:33247918 (GRCh37)
Canonical SPDI:: NC_000006.12:33280140:A:G
Gene:: WDR46 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
G=0.00103/3 (KOREAN)
HGVS:: NC_000006.12:g.33280141A>G, NC_000006.11:g.33247918A>G, NT_113891.3:g.4691622A>G, NT_113891.2:g.4691728A>G, NT_167248.2:g.4474561A>G, NT_167248.1:g.4480157A>G, NT_167245.2:g.4523655A>G, NT_167245.1:g.4529240A>G, NT_167247.2:g.4716107A>G, NT_167247.1:g.4721692A>G

Select item 14895451999.

rs1489545199 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 6:33289653 (GRCh38)
6:33257430 (GRCh37)
Canonical SPDI:: NC_000006.12:33289652:GGGG:GGG
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000076/20 (TOPMED)
-=0.000136/19 (GnomAD)
HGVS:: NC_000006.12:g.33289656del, NC_000006.11:g.33257433del, NT_113891.3:g.4701141del, NT_113891.2:g.4701247del, NT_167248.2:g.4484080del, NT_167248.1:g.4489676del, NT_167245.2:g.4533174del, NT_167245.1:g.4538759del, NT_167247.2:g.4725592del, NT_167247.1:g.4731177del, NM_001185181.3:c.-201del, NM_001185181.2:c.-201del

Select item 148890054810.

rs1488900548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33284499 (GRCh38)
6:33252276 (GRCh37)
Canonical SPDI:: NC_000006.12:33284498:C:T
Gene:: WDR46 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.33284499C>T, NC_000006.11:g.33252276C>T, NT_113891.3:g.4695980C>T, NT_113891.2:g.4696086C>T, NT_167248.2:g.4478919C>T, NT_167248.1:g.4484515C>T, NT_167245.2:g.4528013C>T, NT_167245.1:g.4533598C>T, NT_167247.2:g.4720435C>T, NT_167247.1:g.4726020C>T

Select item 148887040711.

rs1488870407 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33283730 (GRCh38)
6:33251507 (GRCh37)
Canonical SPDI:: NC_000006.12:33283729:T:C
Gene:: WDR46 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.33283730T>C, NC_000006.11:g.33251507T>C, NT_113891.3:g.4695211T>C, NT_113891.2:g.4695317T>C, NT_167248.2:g.4478150T>C, NT_167248.1:g.4483746T>C, NT_167245.2:g.4527244T>C, NT_167245.1:g.4532829T>C, NT_167247.2:g.4719666T>C, NT_167247.1:g.4725251T>C

Select item 148878764412.

rs1488787644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33281954 (GRCh38)
6:33249731 (GRCh37)
Canonical SPDI:: NC_000006.12:33281953:C:T
Gene:: WDR46 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000042/11 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000006.12:g.33281954C>T, NC_000006.11:g.33249731C>T, NT_113891.3:g.4693435C>T, NT_113891.2:g.4693541C>T, NT_167248.2:g.4476374C>T, NT_167248.1:g.4481970C>T, NT_167245.2:g.4525468C>T, NT_167245.1:g.4531053C>T, NT_167247.2:g.4717890C>T, NT_167247.1:g.4723475C>T

Select item 148825464513.

rs1488254645 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33286189 (GRCh38)
6:33253966 (GRCh37)
Canonical SPDI:: NC_000006.12:33286188:A:G
Gene:: WDR46 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000337/4 (ALFA)
G=0.000022/3 (GnomAD)
G=0.000177/5 (TOMMO)
G=0.008898/26 (KOREAN)
HGVS:: NC_000006.12:g.33286189A>G, NC_000006.11:g.33253966A>G, NT_113891.3:g.4697673A>G, NT_113891.2:g.4697779A>G, NT_167248.2:g.4480612A>G, NT_167248.1:g.4486208A>G, NT_167245.2:g.4529706A>G, NT_167245.1:g.4535291A>G, NT_167247.2:g.4722125A>G, NT_167247.1:g.4727710A>G

Select item 148816372314.

rs1488163723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33285969 (GRCh38)
6:33253746 (GRCh37)
Canonical SPDI:: NC_000006.12:33285968:C:T
Gene:: WDR46 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000006.12:g.33285969C>T, NC_000006.11:g.33253746C>T, NT_113891.3:g.4697453C>T, NT_113891.2:g.4697559C>T, NT_167248.2:g.4480392C>T, NT_167248.1:g.4485988C>T, NT_167245.2:g.4529486C>T, NT_167245.1:g.4535071C>T, NT_167247.2:g.4721905C>T, NT_167247.1:g.4727490C>T

Select item 148811509815.

rs1488115098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33283448 (GRCh38)
6:33251225 (GRCh37)
Canonical SPDI:: NC_000006.12:33283447:T:C
Gene:: WDR46 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000214/3 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000043/6 (GnomAD)
C=0.000156/1 (1000Genomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000006.12:g.33283448T>C, NC_000006.11:g.33251225T>C, NT_113891.3:g.4694929T>C, NT_113891.2:g.4695035T>C, NT_167248.2:g.4477868T>C, NT_167248.1:g.4483464T>C, NT_167245.2:g.4526962T>C, NT_167245.1:g.4532547T>C, NT_167247.2:g.4719384T>C, NT_167247.1:g.4724969T>C

Select item 148764675616.

rs1487646756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33278623 (GRCh38)
6:33246400 (GRCh37)
Canonical SPDI:: NC_000006.12:33278622:C:T
Gene:: B3GALT4 (Varview), WDR46 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33278623C>T, NC_000006.11:g.33246400C>T, NT_113891.3:g.4690104C>T, NT_113891.2:g.4690210C>T, NT_167248.2:g.4473043C>T, NT_167248.1:g.4478639C>T, NT_167245.2:g.4522137C>T, NT_167245.1:g.4527722C>T, NT_167247.2:g.4714589C>T, NT_167247.1:g.4720174C>T, NM_003782.4:c.*67C>T, NM_003782.3:c.*67C>T

Select item 148750278017.

rs1487502780 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:33281680 (GRCh38)
6:33249457 (GRCh37)
Canonical SPDI:: NC_000006.12:33281679:T:G
Gene:: WDR46 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33281680T>G, NC_000006.11:g.33249457T>G, NT_113891.3:g.4693161T>G, NT_113891.2:g.4693267T>G, NT_167248.2:g.4476100T>G, NT_167248.1:g.4481696T>G, NT_167245.2:g.4525194T>G, NT_167245.1:g.4530779T>G, NT_167247.2:g.4717621T>G, NT_167247.1:g.4723206T>G

Select item 148747929418.

rs1487479294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:33291518 (GRCh38)
6:33259295 (GRCh37)
Canonical SPDI:: NC_000006.12:33291517:C:G
Gene:: RGL2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000006.12:g.33291518C>G, NC_000006.11:g.33259295C>G, NT_113891.3:g.4703003C>G, NT_113891.2:g.4703109C>G, NT_167248.2:g.4485942C>G, NT_167248.1:g.4491538C>G, NT_167245.2:g.4535036C>G, NT_167245.1:g.4540621C>G, NT_167247.2:g.4727454C>G, NT_167247.1:g.4733039C>G

Select item 148718413619.

rs1487184136 has merged into rs1040194609 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTTGTTT>-,GTTT,GTTTGTTTGTTT,GTTTGTTTGTTTGTTT [Show Flanks]
Chromosome:: 6:33285531 (GRCh38)
6:33253308 (GRCh37)
Canonical SPDI:: NC_000006.12:33285519:TTTGTTTGTTTGTTTGTTT:TTTGTTTGTTT,NC_000006.12:33285519:TTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTT,NC_000006.12:33285519:TTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTT,NC_000006.12:33285519:TTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTTGTTT
Gene:: WDR46 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTGTTTGTTTGTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.33285523GTTT[2], NC_000006.12:g.33285523GTTT[3], NC_000006.12:g.33285523GTTT[5], NC_000006.12:g.33285523GTTT[6], NC_000006.11:g.33253300GTTT[2], NC_000006.11:g.33253300GTTT[3], NC_000006.11:g.33253300GTTT[5], NC_000006.11:g.33253300GTTT[6], NT_113891.3:g.4697007GTTT[2], NT_113891.3:g.4697007GTTT[3], NT_113891.3:g.4697007GTTT[5], NT_113891.3:g.4697007GTTT[6], NT_113891.2:g.4697113GTTT[2], NT_113891.2:g.4697113GTTT[3], NT_113891.2:g.4697113GTTT[5], NT_113891.2:g.4697113GTTT[6], NT_167248.2:g.4479946GTTT[2], NT_167248.2:g.4479946GTTT[3], NT_167248.2:g.4479946GTTT[5], NT_167248.2:g.4479946GTTT[6], NT_167248.1:g.4485542GTTT[2], NT_167248.1:g.4485542GTTT[3], NT_167248.1:g.4485542GTTT[5], NT_167248.1:g.4485542GTTT[6], NT_167245.2:g.4529040GTTT[2], NT_167245.2:g.4529040GTTT[3], NT_167245.2:g.4529040GTTT[5], NT_167245.2:g.4529040GTTT[6], NT_167245.1:g.4534625GTTT[2], NT_167245.1:g.4534625GTTT[3], NT_167245.1:g.4534625GTTT[5], NT_167245.1:g.4534625GTTT[6], NT_167247.2:g.4721459GTTT[2], NT_167247.2:g.4721459GTTT[3], NT_167247.2:g.4721459GTTT[5], NT_167247.2:g.4721459GTTT[6], NT_167247.1:g.4727044GTTT[2], NT_167247.1:g.4727044GTTT[3], NT_167247.1:g.4727044GTTT[5], NT_167247.1:g.4727044GTTT[6]

Select item 148715087120.

rs1487150871 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:33283238 (GRCh38)
6:33251015 (GRCh37)
Canonical SPDI:: NC_000006.12:33283237:AG:
Gene:: WDR46 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000094/25 (TOPMED)
-=0.000781/5 (1000Genomes)
HGVS:: NC_000006.12:g.33283238_33283239del, NC_000006.11:g.33251015_33251016del, NT_113891.3:g.4694719_4694720del, NT_113891.2:g.4694825_4694826del, NT_167248.2:g.4477658_4477659del, NT_167248.1:g.4483254_4483255del, NT_167245.2:g.4526752_4526753del, NT_167245.1:g.4532337_4532338del, NT_167247.2:g.4719174_4719175del, NT_167247.1:g.4724759_4724760del

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