SNP Links for Gene (Select 28991) - SNP

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:144844772 (GRCh38)
8:146070157 (GRCh37)
Canonical SPDI:: NC_000008.11:144844770:AAA:A
Gene:: ZNF7 (Varview), COMMD5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.144844772_144844773del, NC_000008.10:g.146070157_146070158del

Select item 14906722258.

rs1490672225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144849041 (GRCh38)
8:146074426 (GRCh37)
Canonical SPDI:: NC_000008.11:144849040:G:A
Gene:: COMMD5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000008.11:g.144849041G>A, NC_000008.10:g.146074426G>A

Select item 14905406599.

rs1490540659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:144848156 (GRCh38)
8:146073541 (GRCh37)
Canonical SPDI:: NC_000008.11:144848155:G:C
Gene:: COMMD5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144848156G>C, NC_000008.10:g.146073541G>C

Select item 149047839410.

rs1490478394 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGGAAC>- [Show Flanks]
Chromosome:: 8:144845691 (GRCh38)
8:146071076 (GRCh37)
Canonical SPDI:: NC_000008.11:144845685:GGAACCTGGAAC:GGAAC
Gene:: ZNF7 (Varview), COMMD5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGAAC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.144845691_144845697del, NC_000008.10:g.146071076_146071082del

Select item 149044425811.

rs1490444258 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144855052 (GRCh38)
8:146080437 (GRCh37)
Canonical SPDI:: NC_000008.11:144855051:T:C
Gene:: COMMD5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144855052T>C, NC_000008.10:g.146080437T>C

Select item 148998186612.

rs1489981866 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 8:144843569 (GRCh38)
8:146068955 (GRCh37)
Canonical SPDI:: NC_000008.11:144843569:A:AA,NC_000008.11:144843569:A:AAA
Gene:: ZNF7 (Varview), COMMD5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.144843570dup, NC_000008.11:g.144843570_144843571insAA, NC_000008.10:g.146068955dup, NC_000008.10:g.146068955_146068956insAA, XM_011517292.4:c.*402dup, XM_011517292.4:c.*402_*403insAA, XM_011517292.1:c.*402dup, XM_011517292.1:c.*402_*403insAA, XM_011517296.4:c.*402dup, XM_011517296.4:c.*402_*403insAA, XM_011517296.1:c.*402dup, XM_011517296.1:c.*402_*403insAA, NM_003416.4:c.*402dup, NM_003416.4:c.*402_*403insAA, XM_006716654.4:c.*402dup, XM_006716654.4:c.*402_*403insAA, XM_006716654.1:c.*402dup, XM_006716654.1:c.*402_*403insAA, XM_011517294.3:c.*402dup, XM_011517294.3:c.*402_*403insAA, XM_011517294.1:c.*402dup, XM_011517294.1:c.*402_*403insAA, XM_011517293.3:c.*402dup, XM_011517293.3:c.*402_*403insAA, XM_011517293.1:c.*402dup, XM_011517293.1:c.*402_*403insAA, NM_001349809.2:c.*402dup, NM_001349809.2:c.*402_*403insAA, NM_001349806.2:c.*402dup, NM_001349806.2:c.*402_*403insAA, NM_001349808.2:c.*402dup, NM_001349808.2:c.*402_*403insAA, NM_001282795.2:c.*402dup, NM_001282795.2:c.*402_*403insAA, NM_001349807.2:c.*402dup, NM_001349807.2:c.*402_*403insAA, NM_001282797.2:c.*402dup, NM_001282797.2:c.*402_*403insAA, NM_001349805.2:c.*402dup, NM_001349805.2:c.*402_*403insAA, XM_047422205.1:c.*402dup, XM_047422205.1:c.*402_*403insAA, XM_047422204.1:c.*402dup, XM_047422204.1:c.*402_*403insAA

Select item 148958701513.

rs1489587015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144840736 (GRCh38)
8:146066121 (GRCh37)
Canonical SPDI:: NC_000008.11:144840735:C:T
Gene:: ZNF7 (Varview), COMMD5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_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_000008.11:g.144840736C>T, NC_000008.10:g.146066121C>T, XR_928323.4:n.2525G>A, XR_928323.2:n.2182G>A, XR_928323.1:n.2133G>A, XR_428379.4:n.2066G>A, XR_428379.2:n.2032G>A, XR_428379.1:n.2032G>A, XR_928321.4:n.1912G>A, XR_928321.2:n.1963G>A, XR_928321.1:n.1962G>A, XR_002956628.2:n.2041G>A

Select item 148901282914.

rs1489012829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:144842986 (GRCh38)
8:146068371 (GRCh37)
Canonical SPDI:: NC_000008.11:144842985:G:A,NC_000008.11:144842985:G:T
Gene:: ZNF7 (Varview), COMMD5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00003/1 (ALFA)
HGVS:: NC_000008.11:g.144842986G>A, NC_000008.11:g.144842986G>T, NC_000008.10:g.146068371G>A, NC_000008.10:g.146068371G>T, XM_011517292.4:c.1912G>A, XM_011517292.4:c.1912G>T, XM_011517292.3:c.1912G>A, XM_011517292.3:c.1912G>T, XM_011517292.2:c.1912G>A, XM_011517292.2:c.1912G>T, XM_011517292.1:c.1912G>A, XM_011517292.1:c.1912G>T, XM_011517296.4:c.1876G>A, XM_011517296.4:c.1876G>T, XM_011517296.3:c.1876G>A, XM_011517296.3:c.1876G>T, XM_011517296.2:c.1876G>A, XM_011517296.2:c.1876G>T, XM_011517296.1:c.1876G>A, XM_011517296.1:c.1876G>T, NM_003416.4:c.1879G>A, NM_003416.4:c.1879G>T, NM_003416.3:c.1879G>A, NM_003416.3:c.1879G>T, NM_003416.2:c.1879G>A, NM_003416.2:c.1879G>T, XM_006716654.4:c.1591G>A, XM_006716654.4:c.1591G>T, XM_006716654.3:c.1591G>A, XM_006716654.3:c.1591G>T, XM_006716654.2:c.1591G>A, XM_006716654.2:c.1591G>T, XM_006716654.1:c.1591G>A, XM_006716654.1:c.1591G>T, XM_011517294.3:c.1879G>A, XM_011517294.3:c.1879G>T, XM_011517294.2:c.1879G>A, XM_011517294.2:c.1879G>T, XM_011517294.1:c.1879G>A, XM_011517294.1:c.1879G>T, XM_011517293.3:c.1879G>A, XM_011517293.3:c.1879G>T, XM_011517293.2:c.1879G>A, XM_011517293.2:c.1879G>T, XM_011517293.1:c.1879G>A, XM_011517293.1:c.1879G>T, NM_001349809.2:c.1942G>A, NM_001349809.2:c.1942G>T, NM_001349809.1:c.1942G>A, NM_001349809.1:c.1942G>T, NM_001349806.2:c.1930G>A, NM_001349806.2:c.1930G>T, NM_001349806.1:c.1930G>A, NM_001349806.1:c.1930G>T, NM_001349808.2:c.1927G>A, NM_001349808.2:c.1927G>T, NM_001349808.1:c.1927G>A, NM_001349808.1:c.1927G>T, NM_001282795.2:c.1912G>A, NM_001282795.2:c.1912G>T, NM_001282795.1:c.1912G>A, NM_001282795.1:c.1912G>T, NM_001349807.2:c.1876G>A, NM_001349807.2:c.1876G>T, NM_001349807.1:c.1876G>A, NM_001349807.1:c.1876G>T, NM_001282797.2:c.1591G>A, NM_001282797.2:c.1591G>T, NM_001282797.1:c.1591G>A, NM_001282797.1:c.1591G>T, NM_001349805.2:c.1591G>A, NM_001349805.2:c.1591G>T, NM_001349805.1:c.1591G>A, NM_001349805.1:c.1591G>T, XM_047422205.1:c.1939G>A, XM_047422205.1:c.1939G>T, XM_047422204.1:c.1909G>A, XM_047422204.1:c.1909G>T, XP_011515594.1:p.Val638Ile, XP_011515594.1:p.Val638Phe, XP_011515598.1:p.Val626Ile, XP_011515598.1:p.Val626Phe, NP_003407.1:p.Val627Ile, NP_003407.1:p.Val627Phe, XP_006716717.1:p.Val531Ile, XP_006716717.1:p.Val531Phe, XP_011515596.1:p.Val627Ile, XP_011515596.1:p.Val627Phe, XP_011515595.1:p.Val627Ile, XP_011515595.1:p.Val627Phe, NP_001336738.1:p.Val648Ile, NP_001336738.1:p.Val648Phe, NP_001336735.1:p.Val644Ile, NP_001336735.1:p.Val644Phe, NP_001336737.1:p.Val643Ile, NP_001336737.1:p.Val643Phe, NP_001269724.1:p.Val638Ile, NP_001269724.1:p.Val638Phe, NP_001336736.1:p.Val626Ile, NP_001336736.1:p.Val626Phe, NP_001269726.1:p.Val531Ile, NP_001269726.1:p.Val531Phe, NP_001336734.1:p.Val531Ile, NP_001336734.1:p.Val531Phe, XP_047278161.1:p.Val647Ile, XP_047278161.1:p.Val647Phe, XP_047278160.1:p.Val637Ile, XP_047278160.1:p.Val637Phe

Select item 148857984615.

rs1488579846 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144850175 (GRCh38)
8:146075560 (GRCh37)
Canonical SPDI:: NC_000008.11:144850174:A:G
Gene:: COMMD5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.144850175A>G, NC_000008.10:g.146075560A>G, NM_014066.3:c.*489T>C, NM_001081003.2:c.*489T>C, NM_001081004.2:c.*489T>C, NM_001287237.1:c.*489T>C, NM_001081003.1:c.*489T>C, NM_001081004.1:c.*489T>C

Select item 148833966416.

rs1488339664 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 8:144838445 (GRCh38)
8:146063830 (GRCh37)
Canonical SPDI:: NC_000008.11:144838444:T:
Gene:: ZNF7 (Varview), COMMD5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.144838445del, NC_000008.10:g.146063830del, XR_928323.4:n.4816del, XR_928323.2:n.4473del, XR_928323.1:n.4424del, XR_428379.4:n.4357del, XR_428379.2:n.4323del, XR_428379.1:n.4323del, XR_928321.4:n.4203del, XR_928321.2:n.4254del, XR_928321.1:n.4253del, XR_002956628.2:n.4332del

Select item 148831092317.

rs1488310923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:144839019 (GRCh38)
8:146064404 (GRCh37)
Canonical SPDI:: NC_000008.11:144839018:C:G
Gene:: ZNF7 (Varview), COMMD5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.144839019C>G, NC_000008.10:g.146064404C>G, XR_928323.4:n.4242G>C, XR_928323.2:n.3899G>C, XR_928323.1:n.3850G>C, XR_428379.4:n.3783G>C, XR_428379.2:n.3749G>C, XR_428379.1:n.3749G>C, XR_928321.4:n.3629G>C, XR_928321.2:n.3680G>C, XR_928321.1:n.3679G>C, XR_002956628.2:n.3758G>C

Select item 148813892818.

rs1488138928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144841888 (GRCh38)
8:146067273 (GRCh37)
Canonical SPDI:: NC_000008.11:144841887:C:T
Gene:: ZNF7 (Varview), COMMD5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144841888C>T, NC_000008.10:g.146067273C>T, XM_011517292.4:c.814C>T, XM_011517292.3:c.814C>T, XM_011517292.2:c.814C>T, XM_011517292.1:c.814C>T, XM_011517296.4:c.778C>T, XM_011517296.3:c.778C>T, XM_011517296.2:c.778C>T, XM_011517296.1:c.778C>T, NM_003416.4:c.781C>T, NM_003416.3:c.781C>T, NM_003416.2:c.781C>T, XM_006716654.4:c.493C>T, XM_006716654.3:c.493C>T, XM_006716654.2:c.493C>T, XM_006716654.1:c.493C>T, XM_011517294.3:c.781C>T, XM_011517294.2:c.781C>T, XM_011517294.1:c.781C>T, XM_011517293.3:c.781C>T, XM_011517293.2:c.781C>T, XM_011517293.1:c.781C>T, NM_001349809.2:c.844C>T, NM_001349809.1:c.844C>T, NM_001349806.2:c.832C>T, NM_001349806.1:c.832C>T, NM_001349808.2:c.829C>T, NM_001349808.1:c.829C>T, NM_001282795.2:c.814C>T, NM_001282795.1:c.814C>T, NM_001349807.2:c.778C>T, NM_001349807.1:c.778C>T, NM_001282797.2:c.493C>T, NM_001282797.1:c.493C>T, NM_001349805.2:c.493C>T, NM_001349805.1:c.493C>T, XM_047422205.1:c.841C>T, XM_047422204.1:c.811C>T, XP_011515594.1:p.Leu272Phe, XP_011515598.1:p.Leu260Phe, NP_003407.1:p.Leu261Phe, XP_006716717.1:p.Leu165Phe, XP_011515596.1:p.Leu261Phe, XP_011515595.1:p.Leu261Phe, NP_001336738.1:p.Leu282Phe, NP_001336735.1:p.Leu278Phe, NP_001336737.1:p.Leu277Phe, NP_001269724.1:p.Leu272Phe, NP_001336736.1:p.Leu260Phe, NP_001269726.1:p.Leu165Phe, NP_001336734.1:p.Leu165Phe, XP_047278161.1:p.Leu281Phe, XP_047278160.1:p.Leu271Phe

Select item 148785212619.

rs1487852126 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:144838625 (GRCh38)
8:146064011 (GRCh37)
Canonical SPDI:: NC_000008.11:144838625:GG:GGG
Gene:: ZNF7 (Varview), COMMD5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.144838627dup, NC_000008.10:g.146064012dup, XR_928323.4:n.4635dup, XR_928323.2:n.4292dup, XR_928323.1:n.4243dup, XR_428379.4:n.4176dup, XR_428379.2:n.4142dup, XR_428379.1:n.4142dup, XR_928321.4:n.4022dup, XR_928321.2:n.4073dup, XR_928321.1:n.4072dup, XR_002956628.2:n.4151dup

Select item 148773428620.

rs1487734286 [Homo sapiens]

Variant type:: DEL
Alleles:: CAAAAAAAAAAAAAA>- [Show Flanks]
Chromosome:: 8:144844709 (GRCh38)
8:146070094 (GRCh37)
Canonical SPDI:: NC_000008.11:144844708:CAAAAAAAAAAAAAA:
Gene:: ZNF7 (Varview), COMMD5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.144844709_144844723del, NC_000008.10:g.146070094_146070108del

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