SNP Links for Protein (Select 297747286) - SNP

Links from Protein

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Select item 14903506381.

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 14779846822.

rs1477984682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33290726 (GRCh38)
6:33258503 (GRCh37)
Canonical SPDI:: NC_000006.12:33290725:G:A
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000006.12:g.33290726G>A, NC_000006.11:g.33258503G>A, NT_113891.3:g.4702211G>A, NT_113891.2:g.4702317G>A, NT_167248.2:g.4485150G>A, NT_167248.1:g.4490746G>A, NT_167245.2:g.4534244G>A, NT_167245.1:g.4539829G>A, NT_167247.2:g.4726662G>A, NT_167247.1:g.4732247G>A, NM_014260.4:c.271G>A, NM_014260.3:c.271G>A, NM_001185181.3:c.271G>A, NM_001185181.2:c.271G>A, NM_001265595.1:c.271G>A, NM_001265595.2:c.271G>A, XM_047418077.1:c.271G>A, NM_001265596.1:c.271G>A, NP_055075.1:p.Glu91Lys, NP_001172110.1:p.Glu91Lys, NP_001252524.1:p.Glu91Lys, XP_047274033.1:p.Glu91Lys, NP_001252525.1:p.Glu91Lys

Select item 14723735153.

rs1472373515 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:33290766 (GRCh38)
6:33258543 (GRCh37)
Canonical SPDI:: NC_000006.12:33290765:A:T
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33290766A>T, NC_000006.11:g.33258543A>T, NT_113891.3:g.4702251A>T, NT_113891.2:g.4702357A>T, NT_167248.2:g.4485190A>T, NT_167248.1:g.4490786A>T, NT_167245.2:g.4534284A>T, NT_167245.1:g.4539869A>T, NT_167247.2:g.4726702A>T, NT_167247.1:g.4732287A>T, NM_014260.4:c.311A>T, NM_014260.3:c.311A>T, NM_001185181.3:c.311A>T, NM_001185181.2:c.311A>T, NM_001265595.2:c.311A>T, NM_001265595.1:c.311A>T, NM_001265596.1:c.311A>T, XM_047418077.1:c.311A>T, NP_055075.1:p.Gln104Leu, NP_001172110.1:p.Gln104Leu, NP_001252524.1:p.Gln104Leu, NP_001252525.1:p.Gln104Leu, XP_047274033.1:p.Gln104Leu

Select item 14698632104.

rs1469863210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33289868 (GRCh38)
6:33257645 (GRCh37)
Canonical SPDI:: NC_000006.12:33289867:G:A
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.33289868G>A, NC_000006.11:g.33257645G>A, NT_113891.3:g.4701353G>A, NT_113891.2:g.4701459G>A, NT_167248.2:g.4484292G>A, NT_167248.1:g.4489888G>A, NT_167245.2:g.4533386G>A, NT_167245.1:g.4538971G>A, NT_167247.2:g.4725804G>A, NT_167247.1:g.4731389G>A, NM_014260.4:c.12G>A, NM_014260.3:c.12G>A, NM_001185181.3:c.12G>A, NM_001185181.2:c.12G>A, NM_001265595.1:c.12G>A, NM_001265595.2:c.12G>A, XM_047418077.1:c.12G>A, NM_001265596.1:c.12G>A

Select item 14592454435.

rs1459245443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:33290355 (GRCh38)
6:33258132 (GRCh37)
Canonical SPDI:: NC_000006.12:33290354:G:T
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33290355G>T, NC_000006.11:g.33258132G>T, NT_113891.3:g.4701840G>T, NT_113891.2:g.4701946G>T, NT_167248.2:g.4484779G>T, NT_167248.1:g.4490375G>T, NT_167245.2:g.4533873G>T, NT_167245.1:g.4539458G>T, NT_167247.2:g.4726291G>T, NT_167247.1:g.4731876G>T, NM_014260.4:c.165G>T, NM_014260.3:c.165G>T, NM_001185181.3:c.165G>T, NM_001185181.2:c.165G>T, NM_001265595.2:c.165G>T, NM_001265595.1:c.165G>T, NM_001265596.1:c.165G>T, XM_047418077.1:c.165G>T

Select item 14591953536.

rs1459195353 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33290226 (GRCh38)
6:33258003 (GRCh37)
Canonical SPDI:: NC_000006.12:33290225:A:G
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_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_000006.12:g.33290226A>G, NC_000006.11:g.33258003A>G, NT_113891.3:g.4701711A>G, NT_113891.2:g.4701817A>G, NT_167248.2:g.4484650A>G, NT_167248.1:g.4490246A>G, NT_167245.2:g.4533744A>G, NT_167245.1:g.4539329A>G, NT_167247.2:g.4726162A>G, NT_167247.1:g.4731747A>G, NM_014260.4:c.117A>G, NM_014260.3:c.117A>G, NM_001185181.3:c.117A>G, NM_001185181.2:c.117A>G, NM_001265595.1:c.117A>G, NM_001265595.2:c.117A>G, XM_047418077.1:c.117A>G, NM_001265596.1:c.117A>G

Select item 14537131157.

rs1453713115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33290201 (GRCh38)
6:33257978 (GRCh37)
Canonical SPDI:: NC_000006.12:33290200:A:G
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33290201A>G, NC_000006.11:g.33257978A>G, NT_113891.3:g.4701686A>G, NT_113891.2:g.4701792A>G, NT_167248.2:g.4484625A>G, NT_167248.1:g.4490221A>G, NT_167245.2:g.4533719A>G, NT_167245.1:g.4539304A>G, NT_167247.2:g.4726137A>G, NT_167247.1:g.4731722A>G, NM_014260.4:c.92A>G, NM_014260.3:c.92A>G, NM_001185181.3:c.92A>G, NM_001185181.2:c.92A>G, NM_001265595.2:c.92A>G, NM_001265595.1:c.92A>G, XM_047418077.1:c.92A>G, NM_001265596.1:c.92A>G, NP_055075.1:p.Gln31Arg, NP_001172110.1:p.Gln31Arg, NP_001252524.1:p.Gln31Arg, XP_047274033.1:p.Gln31Arg, NP_001252525.1:p.Gln31Arg

Select item 14517404798.

rs1451740479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33290749 (GRCh38)
6:33258526 (GRCh37)
Canonical SPDI:: NC_000006.12:33290748:G:A
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33290749G>A, NC_000006.11:g.33258526G>A, NT_113891.3:g.4702234G>A, NT_113891.2:g.4702340G>A, NT_167248.2:g.4485173G>A, NT_167248.1:g.4490769G>A, NT_167245.2:g.4534267G>A, NT_167245.1:g.4539852G>A, NT_167247.2:g.4726685G>A, NT_167247.1:g.4732270G>A, NM_014260.4:c.294G>A, NM_014260.3:c.294G>A, NM_001185181.3:c.294G>A, NM_001185181.2:c.294G>A, NM_001265595.2:c.294G>A, NM_001265595.1:c.294G>A, NM_001265596.1:c.294G>A, XM_047418077.1:c.294G>A

Select item 14478446929.

rs1447844692 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33290373 (GRCh38)
6:33258150 (GRCh37)
Canonical SPDI:: NC_000006.12:33290372:T:C
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33290373T>C, NC_000006.11:g.33258150T>C, NT_113891.3:g.4701858T>C, NT_113891.2:g.4701964T>C, NT_167248.2:g.4484797T>C, NT_167248.1:g.4490393T>C, NT_167245.2:g.4533891T>C, NT_167245.1:g.4539476T>C, NT_167247.2:g.4726309T>C, NT_167247.1:g.4731894T>C, NM_014260.4:c.183T>C, NM_014260.3:c.183T>C, NM_001185181.3:c.183T>C, NM_001185181.2:c.183T>C, NM_001265595.2:c.183T>C, NM_001265595.1:c.183T>C, XM_047418077.1:c.183T>C, NM_001265596.1:c.183T>C

Select item 143791627910.

rs1437916279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33290412 (GRCh38)
6:33258189 (GRCh37)
Canonical SPDI:: NC_000006.12:33290411:C:T
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33290412C>T, NC_000006.11:g.33258189C>T, NT_113891.3:g.4701897C>T, NT_113891.2:g.4702003C>T, NT_167248.2:g.4484836C>T, NT_167248.1:g.4490432C>T, NT_167245.2:g.4533930C>T, NT_167245.1:g.4539515C>T, NT_167247.2:g.4726348C>T, NT_167247.1:g.4731933C>T, NM_014260.4:c.222C>T, NM_014260.3:c.222C>T, NM_001185181.3:c.222C>T, NM_001185181.2:c.222C>T, NM_001265595.2:c.222C>T, NM_001265595.1:c.222C>T, NM_001265596.1:c.222C>T, XM_047418077.1:c.222C>T

Select item 143583205211.

rs1435832052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33290180 (GRCh38)
6:33257957 (GRCh37)
Canonical SPDI:: NC_000006.12:33290179:G:A
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_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_000006.12:g.33290180G>A, NC_000006.11:g.33257957G>A, NT_113891.3:g.4701665G>A, NT_113891.2:g.4701771G>A, NT_167248.2:g.4484604G>A, NT_167248.1:g.4490200G>A, NT_167245.2:g.4533698G>A, NT_167245.1:g.4539283G>A, NT_167247.2:g.4726116G>A, NT_167247.1:g.4731701G>A, NM_014260.4:c.71G>A, NM_014260.3:c.71G>A, NM_001185181.3:c.71G>A, NM_001185181.2:c.71G>A, NM_001265595.2:c.71G>A, NM_001265595.1:c.71G>A, NM_001265596.1:c.71G>A, XM_047418077.1:c.71G>A, NP_055075.1:p.Ser24Asn, NP_001172110.1:p.Ser24Asn, NP_001252524.1:p.Ser24Asn, NP_001252525.1:p.Ser24Asn, XP_047274033.1:p.Ser24Asn

Select item 142998120412.

rs1429981204 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33289885 (GRCh38)
6:33257662 (GRCh37)
Canonical SPDI:: NC_000006.12:33289884:A:G
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33289885A>G, NC_000006.11:g.33257662A>G, NT_113891.3:g.4701370A>G, NT_113891.2:g.4701476A>G, NT_167248.2:g.4484309A>G, NT_167248.1:g.4489905A>G, NT_167245.2:g.4533403A>G, NT_167245.1:g.4538988A>G, NT_167247.2:g.4725821A>G, NT_167247.1:g.4731406A>G, NM_014260.4:c.29A>G, NM_014260.3:c.29A>G, NM_001185181.3:c.29A>G, NM_001185181.2:c.29A>G, NM_001265595.2:c.29A>G, NM_001265595.1:c.29A>G, NM_001265596.1:c.29A>G, XM_047418077.1:c.29A>G, NP_055075.1:p.Gln10Arg, NP_001172110.1:p.Gln10Arg, NP_001252524.1:p.Gln10Arg, NP_001252525.1:p.Gln10Arg, XP_047274033.1:p.Gln10Arg

Select item 142753435213.

rs1427534352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:33290823 (GRCh38)
6:33258600 (GRCh37)
Canonical SPDI:: NC_000006.12:33290822:C:A
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,missense_variant,downstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33290823C>A, NC_000006.11:g.33258600C>A, NT_113891.3:g.4702308C>A, NT_113891.2:g.4702414C>A, NT_167248.2:g.4485247C>A, NT_167248.1:g.4490843C>A, NT_167245.2:g.4534341C>A, NT_167245.1:g.4539926C>A, NT_167247.2:g.4726759C>A, NT_167247.1:g.4732344C>A, NM_014260.4:c.368C>A, NM_014260.3:c.368C>A, NM_001185181.3:c.368C>A, NM_001185181.2:c.368C>A, NM_001265595.2:c.368C>A, NM_001265595.1:c.368C>A, NM_001265596.1:c.368C>A, XM_047418077.1:c.368C>A, NP_055075.1:p.Ala123Glu, NP_001172110.1:p.Ala123Glu, NP_001252524.1:p.Ala123Glu, NP_001252525.1:p.Ala123Glu, XP_047274033.1:p.Ala123Glu

Select item 141350404814.

rs1413504048 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33290442 (GRCh38)
6:33258219 (GRCh37)
Canonical SPDI:: NC_000006.12:33290441:A:G
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.33290442A>G, NC_000006.11:g.33258219A>G, NT_113891.3:g.4701927A>G, NT_113891.2:g.4702033A>G, NT_167248.2:g.4484866A>G, NT_167248.1:g.4490462A>G, NT_167245.2:g.4533960A>G, NT_167245.1:g.4539545A>G, NT_167247.2:g.4726378A>G, NT_167247.1:g.4731963A>G, NM_014260.4:c.252A>G, NM_014260.3:c.252A>G, NM_001185181.3:c.252A>G, NM_001185181.2:c.252A>G, NM_001265595.2:c.252A>G, NM_001265595.1:c.252A>G, XM_047418077.1:c.252A>G, NM_001265596.1:c.252A>G

Select item 140968785015.

rs1409687850 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33290227 (GRCh38)
6:33258004 (GRCh37)
Canonical SPDI:: NC_000006.12:33290226:A:G
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33290227A>G, NC_000006.11:g.33258004A>G, NT_113891.3:g.4701712A>G, NT_113891.2:g.4701818A>G, NT_167248.2:g.4484651A>G, NT_167248.1:g.4490247A>G, NT_167245.2:g.4533745A>G, NT_167245.1:g.4539330A>G, NT_167247.2:g.4726163A>G, NT_167247.1:g.4731748A>G, NM_014260.4:c.118A>G, NM_014260.3:c.118A>G, NM_001185181.3:c.118A>G, NM_001185181.2:c.118A>G, NM_001265595.2:c.118A>G, NM_001265595.1:c.118A>G, XM_047418077.1:c.118A>G, NM_001265596.1:c.118A>G, NP_055075.1:p.Asn40Asp, NP_001172110.1:p.Asn40Asp, NP_001252524.1:p.Asn40Asp, XP_047274033.1:p.Asn40Asp, NP_001252525.1:p.Asn40Asp

Select item 140563564416.

rs1405635644 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33290233 (GRCh38)
6:33258010 (GRCh37)
Canonical SPDI:: NC_000006.12:33290232:A:G
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33290233A>G, NC_000006.11:g.33258010A>G, NT_113891.3:g.4701718A>G, NT_113891.2:g.4701824A>G, NT_167248.2:g.4484657A>G, NT_167248.1:g.4490253A>G, NT_167245.2:g.4533751A>G, NT_167245.1:g.4539336A>G, NT_167247.2:g.4726169A>G, NT_167247.1:g.4731754A>G, NM_014260.4:c.124A>G, NM_014260.3:c.124A>G, NM_001185181.3:c.124A>G, NM_001185181.2:c.124A>G, NM_001265595.2:c.124A>G, NM_001265595.1:c.124A>G, NM_001265596.1:c.124A>G, XM_047418077.1:c.124A>G, NP_055075.1:p.Ile42Val, NP_001172110.1:p.Ile42Val, NP_001252524.1:p.Ile42Val, NP_001252525.1:p.Ile42Val, XP_047274033.1:p.Ile42Val

Select item 138207505917.

rs1382075059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33290236 (GRCh38)
6:33258013 (GRCh37)
Canonical SPDI:: NC_000006.12:33290235:G:A
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33290236G>A, NC_000006.11:g.33258013G>A, NT_113891.3:g.4701721G>A, NT_113891.2:g.4701827G>A, NT_167248.2:g.4484660G>A, NT_167248.1:g.4490256G>A, NT_167245.2:g.4533754G>A, NT_167245.1:g.4539339G>A, NT_167247.2:g.4726172G>A, NT_167247.1:g.4731757G>A, NM_014260.4:c.127G>A, NM_014260.3:c.127G>A, NM_001185181.3:c.127G>A, NM_001185181.2:c.127G>A, NM_001265595.2:c.127G>A, NM_001265595.1:c.127G>A, XM_047418077.1:c.127G>A, NM_001265596.1:c.127G>A, NP_055075.1:p.Val43Met, NP_001172110.1:p.Val43Met, NP_001252524.1:p.Val43Met, XP_047274033.1:p.Val43Met, NP_001252525.1:p.Val43Met

Select item 138144811318.

rs1381448113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33290841 (GRCh38)
6:33258618 (GRCh37)
Canonical SPDI:: NC_000006.12:33290840:C:T
Gene:: WDR46 (Varview), PFDN6 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33290841C>T, NC_000006.11:g.33258618C>T, NT_113891.3:g.4702326C>T, NT_113891.2:g.4702432C>T, NT_167248.2:g.4485265C>T, NT_167248.1:g.4490861C>T, NT_167245.2:g.4534359C>T, NT_167245.1:g.4539944C>T, NT_167247.2:g.4726777C>T, NT_167247.1:g.4732362C>T, NM_014260.4:c.386C>T, NM_014260.3:c.386C>T, NM_001185181.3:c.386C>T, NM_001185181.2:c.386C>T, NM_001265595.2:c.386C>T, NM_001265595.1:c.386C>T, NM_001265596.1:c.386C>T, XM_047418077.1:c.386C>T, NP_055075.1:p.Ala129Val, NP_001172110.1:p.Ala129Val, NP_001252524.1:p.Ala129Val, NP_001252525.1:p.Ala129Val, XP_047274033.1:p.Ala129Val

Select item 138060853919.

rs1380608539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:33290379 (GRCh38)
6:33258156 (GRCh37)
Canonical SPDI:: NC_000006.12:33290378:G:T
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.00005/7 (GnomAD)
T=0.000057/15 (TOPMED)
HGVS:: NC_000006.12:g.33290379G>T, NC_000006.11:g.33258156G>T, NT_113891.3:g.4701864G>T, NT_113891.2:g.4701970G>T, NT_167248.2:g.4484803G>T, NT_167248.1:g.4490399G>T, NT_167245.2:g.4533897G>T, NT_167245.1:g.4539482G>T, NT_167247.2:g.4726315G>T, NT_167247.1:g.4731900G>T, NM_014260.4:c.189G>T, NM_014260.3:c.189G>T, NM_001185181.3:c.189G>T, NM_001185181.2:c.189G>T, NM_001265595.1:c.189G>T, NM_001265595.2:c.189G>T, XM_047418077.1:c.189G>T, NM_001265596.1:c.189G>T

Select item 137628338620.

rs1376283386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33289919 (GRCh38)
6:33257696 (GRCh37)
Canonical SPDI:: NC_000006.12:33289918:G:A
Gene:: WDR46 (Varview), PFDN6 (Varview), MIR6834 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.33289919G>A, NC_000006.11:g.33257696G>A, NT_113891.3:g.4701404G>A, NT_113891.2:g.4701510G>A, NT_167248.2:g.4484343G>A, NT_167248.1:g.4489939G>A, NT_167245.2:g.4533437G>A, NT_167245.1:g.4539022G>A, NT_167247.2:g.4725855G>A, NT_167247.1:g.4731440G>A, NM_014260.4:c.63G>A, NM_014260.3:c.63G>A, NM_001185181.3:c.63G>A, NM_001185181.2:c.63G>A, NM_001265595.2:c.63G>A, NM_001265595.1:c.63G>A, XM_047418077.1:c.63G>A, NM_001265596.1:c.63G>A

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