SNP Links for Gene (Select 84627) - SNP

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Select item 14909919901.

rs1490991990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:88422851 (GRCh38)
16:88489259 (GRCh37)
Canonical SPDI:: NC_000016.10:88422850:A:G
Gene:: ZNF469 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.88422851A>G, NC_000016.9:g.88489259A>G, NG_012236.2:g.381A>G

Select item 14909460992.

rs1490946099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:88436104 (GRCh38)
16:88502512 (GRCh37)
Canonical SPDI:: NC_000016.10:88436103:C:T
Gene:: ZNF469 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.88436104C>T, NC_000016.9:g.88502512C>T, NG_012236.2:g.13634C>T, NM_001367624.2:c.8634C>T, NM_001367624.1:c.8634C>T, NM_001127464.2:c.8550C>T, XM_047434810.1:c.8634C>T, NM_001127464.1:c.8550C>T

Select item 14907344093.

rs1490734409 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGT>- [Show Flanks]
Chromosome:: 16:88423154 (GRCh38)
16:88489562 (GRCh37)
Canonical SPDI:: NC_000016.10:88423150:GGTTGGT:GGT
Gene:: ZNF469 (Varview), LOC112268182 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGT=0./0 (ALFA)
HGVS:: NC_000016.10:g.88423154_88423157del, NC_000016.9:g.88489562_88489565del, NG_012236.2:g.684_687del

Select item 14907057684.

rs1490705768 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:88434234 (GRCh38)
16:88500642 (GRCh37)
Canonical SPDI:: NC_000016.10:88434233:A:T
Gene:: ZNF469 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.88434234A>T, NC_000016.9:g.88500642A>T, NG_012236.2:g.11764A>T, NM_001367624.2:c.6764A>T, NM_001367624.1:c.6764A>T, NM_001127464.2:c.6680A>T, XM_047434810.1:c.6764A>T, NM_001127464.1:c.6680A>T, NP_001354553.1:p.Asp2255Val, XP_047290766.1:p.Asp2255Val

Select item 14904571715.

rs1490457171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:88436362 (GRCh38)
16:88502770 (GRCh37)
Canonical SPDI:: NC_000016.10:88436361:G:A,NC_000016.10:88436361:G:T
Gene:: ZNF469 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
HGVS:: NC_000016.10:g.88436362G>A, NC_000016.10:g.88436362G>T, NC_000016.9:g.88502770G>A, NC_000016.9:g.88502770G>T, NG_012236.2:g.13892G>A, NG_012236.2:g.13892G>T, NM_001367624.2:c.8892G>A, NM_001367624.2:c.8892G>T, NM_001367624.1:c.8892G>A, NM_001367624.1:c.8892G>T, NM_001127464.2:c.8808G>A, NM_001127464.2:c.8808G>T, XM_047434810.1:c.8892G>A, XM_047434810.1:c.8892G>T, NM_001127464.1:c.8808G>A, NM_001127464.1:c.8808G>T, NP_001354553.1:p.Glu2964Asp, XP_047290766.1:p.Glu2964Asp

Select item 14904104346.

rs1490410434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88436998 (GRCh38)
16:88503406 (GRCh37)
Canonical SPDI:: NC_000016.10:88436997:G:A
Gene:: ZNF469 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000016/2 (GnomAD_exomes)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000016.10:g.88436998G>A, NC_000016.9:g.88503406G>A, NG_012236.2:g.14528G>A, NM_001367624.2:c.9528G>A, NM_001367624.1:c.9528G>A, NM_001127464.2:c.9444G>A, XM_047434810.1:c.9528G>A, NM_001127464.1:c.9444G>A

Select item 14902286267.

rs1490228626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:88432962 (GRCh38)
16:88499370 (GRCh37)
Canonical SPDI:: NC_000016.10:88432961:C:T
Gene:: ZNF469 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000016.10:g.88432962C>T, NC_000016.9:g.88499370C>T, NG_012236.2:g.10492C>T, NM_001367624.2:c.5492C>T, NM_001367624.1:c.5492C>T, NM_001127464.2:c.5408C>T, XM_047434810.1:c.5492C>T, NM_001127464.1:c.5408C>T, NP_001354553.1:p.Ala1831Val, XP_047290766.1:p.Ala1831Val

Select item 14900935498.

rs1490093549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:88439338 (GRCh38)
16:88505746 (GRCh37)
Canonical SPDI:: NC_000016.10:88439337:A:G
Gene:: ZNF469 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.88439338A>G, NC_000016.9:g.88505746A>G, NG_012236.2:g.16868A>G, NM_001367624.2:c.*6A>G, NM_001367624.1:c.*6A>G, NM_001127464.2:c.*6A>G, XM_047434810.1:c.*6A>G, NM_001127464.1:c.*6A>G

Select item 14900824959.

rs1490082495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:88436426 (GRCh38)
16:88502834 (GRCh37)
Canonical SPDI:: NC_000016.10:88436425:G:A,NC_000016.10:88436425:G:T
Gene:: ZNF469 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88436426G>A, NC_000016.10:g.88436426G>T, NC_000016.9:g.88502834G>A, NC_000016.9:g.88502834G>T, NG_012236.2:g.13956G>A, NG_012236.2:g.13956G>T, NM_001367624.2:c.8956G>A, NM_001367624.2:c.8956G>T, NM_001367624.1:c.8956G>A, NM_001367624.1:c.8956G>T, NM_001127464.2:c.8872G>A, NM_001127464.2:c.8872G>T, XM_047434810.1:c.8956G>A, XM_047434810.1:c.8956G>T, NM_001127464.1:c.8872G>A, NM_001127464.1:c.8872G>T, NP_001354553.1:p.Ala2986Thr, NP_001354553.1:p.Ala2986Ser, XP_047290766.1:p.Ala2986Thr, XP_047290766.1:p.Ala2986Ser

Select item 148993286710.

rs1489932867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:88430740 (GRCh38)
16:88497148 (GRCh37)
Canonical SPDI:: NC_000016.10:88430739:C:T
Gene:: ZNF469 (Varview), LOC112268182 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.00001/1 (GnomAD_exomes)
T=0.00004/1 (TOMMO)
HGVS:: NC_000016.10:g.88430740C>T, NC_000016.9:g.88497148C>T, NG_012236.2:g.8270C>T, NM_001367624.2:c.3270C>T, NM_001367624.1:c.3270C>T, NM_001127464.2:c.3186C>T, XM_047434810.1:c.3270C>T, NM_001127464.1:c.3186C>T

Select item 148987763211.

rs1489877632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:88431346 (GRCh38)
16:88497754 (GRCh37)
Canonical SPDI:: NC_000016.10:88431345:C:T
Gene:: ZNF469 (Varview), LOC112268182 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88431346C>T, NC_000016.9:g.88497754C>T, NG_012236.2:g.8876C>T, NM_001367624.2:c.3876C>T, NM_001367624.1:c.3876C>T, NM_001127464.2:c.3792C>T, XM_047434810.1:c.3876C>T, NM_001127464.1:c.3792C>T

Select item 148977058012.

rs1489770580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:88425092 (GRCh38)
16:88491500 (GRCh37)
Canonical SPDI:: NC_000016.10:88425091:C:G
Gene:: ZNF469 (Varview), LOC112268182 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000016.10:g.88425092C>G, NC_000016.9:g.88491500C>G, NG_012236.2:g.2622C>G, XR_007065178.1:n.1425G>C

Select item 148953693013.

rs1489536930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:88436041 (GRCh38)
16:88502449 (GRCh37)
Canonical SPDI:: NC_000016.10:88436040:C:T
Gene:: ZNF469 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000016.10:g.88436041C>T, NC_000016.9:g.88502449C>T, NG_012236.2:g.13571C>T, NM_001367624.2:c.8571C>T, NM_001367624.1:c.8571C>T, NM_001127464.2:c.8487C>T, XM_047434810.1:c.8571C>T, NM_001127464.1:c.8487C>T

Select item 148947946114.

rs1489479461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88429675 (GRCh38)
16:88496083 (GRCh37)
Canonical SPDI:: NC_000016.10:88429674:G:A
Gene:: ZNF469 (Varview), LOC112268182 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.88429675G>A, NC_000016.9:g.88496083G>A, NG_012236.2:g.7205G>A, NM_001367624.2:c.2205G>A, NM_001367624.1:c.2205G>A, NM_001127464.2:c.2205G>A, XM_047434810.1:c.2205G>A, NM_001127464.1:c.2205G>A

Select item 148941648715.

rs1489416487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:88430278 (GRCh38)
16:88496686 (GRCh37)
Canonical SPDI:: NC_000016.10:88430277:G:C,NC_000016.10:88430277:G:T
Gene:: ZNF469 (Varview), LOC112268182 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/3 (GnomAD_exomes)
C=0.000177/3 (TOMMO)
HGVS:: NC_000016.10:g.88430278G>C, NC_000016.10:g.88430278G>T, NC_000016.9:g.88496686G>C, NC_000016.9:g.88496686G>T, NG_012236.2:g.7808G>C, NG_012236.2:g.7808G>T, NM_001367624.2:c.2808G>C, NM_001367624.2:c.2808G>T, NM_001367624.1:c.2808G>C, NM_001367624.1:c.2808G>T, NM_001127464.2:c.2808G>C, NM_001127464.2:c.2808G>T, XM_047434810.1:c.2808G>C, XM_047434810.1:c.2808G>T, NM_001127464.1:c.2808G>C, NM_001127464.1:c.2808G>T, XR_007065178.1:n.85C>G, XR_007065178.1:n.85C>A

Select item 148940206016.

rs1489402060 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:88436690 (GRCh38)
16:88503098 (GRCh37)
Canonical SPDI:: NC_000016.10:88436689:A:G
Gene:: ZNF469 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.88436690A>G, NC_000016.9:g.88503098A>G, NG_012236.2:g.14220A>G, NM_001367624.2:c.9220A>G, NM_001367624.1:c.9220A>G, NM_001127464.2:c.9136A>G, XM_047434810.1:c.9220A>G, NM_001127464.1:c.9136A>G, NP_001354553.1:p.Ser3074Gly, XP_047290766.1:p.Ser3074Gly

Select item 148940165917.

rs1489401659 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:88423406 (GRCh38)
16:88489814 (GRCh37)
Canonical SPDI:: NC_000016.10:88423405:A:G
Gene:: ZNF469 (Varview), LOC112268182 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.88423406A>G, NC_000016.9:g.88489814A>G, NG_012236.2:g.936A>G

Select item 148938574118.

rs1489385741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:88437878 (GRCh38)
16:88504286 (GRCh37)
Canonical SPDI:: NC_000016.10:88437877:C:G,NC_000016.10:88437877:C:T
Gene:: ZNF469 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88437878C>G, NC_000016.10:g.88437878C>T, NC_000016.9:g.88504286C>G, NC_000016.9:g.88504286C>T, NG_012236.2:g.15408C>G, NG_012236.2:g.15408C>T, NM_001367624.2:c.10408C>G, NM_001367624.2:c.10408C>T, NM_001367624.1:c.10408C>G, NM_001367624.1:c.10408C>T, NM_001127464.2:c.10324C>G, NM_001127464.2:c.10324C>T, XM_047434810.1:c.10408C>G, XM_047434810.1:c.10408C>T, NM_001127464.1:c.10324C>G, NM_001127464.1:c.10324C>T, NP_001354553.1:p.Leu3470Val, XP_047290766.1:p.Leu3470Val

Select item 148923357219.

rs1489233572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:88430498 (GRCh38)
16:88496906 (GRCh37)
Canonical SPDI:: NC_000016.10:88430497:C:G,NC_000016.10:88430497:C:T
Gene:: ZNF469 (Varview), LOC112268182 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.00003/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88430498C>G, NC_000016.10:g.88430498C>T, NC_000016.9:g.88496906C>G, NC_000016.9:g.88496906C>T, NG_012236.2:g.8028C>G, NG_012236.2:g.8028C>T, NM_001367624.2:c.3028C>G, NM_001367624.2:c.3028C>T, NM_001367624.1:c.3028C>G, NM_001367624.1:c.3028C>T, NM_001127464.2:c.3028C>G, NM_001127464.2:c.3028C>T, XM_047434810.1:c.3028C>G, XM_047434810.1:c.3028C>T, NM_001127464.1:c.3028C>G, NM_001127464.1:c.3028C>T, NP_001354553.1:p.Pro1010Ala, NP_001354553.1:p.Pro1010Ser, XP_047290766.1:p.Pro1010Ala, XP_047290766.1:p.Pro1010Ser

Select item 148910922820.

rs1489109228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88432220 (GRCh38)
16:88498628 (GRCh37)
Canonical SPDI:: NC_000016.10:88432219:G:A
Gene:: ZNF469 (Varview), LOC112268182 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88432220G>A, NC_000016.9:g.88498628G>A, NG_012236.2:g.9750G>A, NM_001367624.2:c.4750G>A, NM_001367624.1:c.4750G>A, NM_001127464.2:c.4666G>A, XM_047434810.1:c.4750G>A, NM_001127464.1:c.4666G>A, NP_001354553.1:p.Ala1584Thr, XP_047290766.1:p.Ala1584Thr

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