SNP Links for Protein (Select 5730124) - SNP

Links from Protein

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Select item 14888940321.

rs1488894032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:53576791 (GRCh38)
20:52193330 (GRCh37)
Canonical SPDI:: NC_000020.11:53576790:T:A
Gene:: ZNF217 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000020.11:g.53576791T>A, NC_000020.10:g.52193330T>A, XM_005260545.5:c.1973A>T, XM_005260545.4:c.1973A>T, XM_005260545.3:c.1973A>T, XM_005260545.2:c.1973A>T, XM_005260545.1:c.1973A>T, NM_006526.3:c.1973A>T, NM_006526.2:c.1973A>T, XM_024451998.2:c.1973A>T, XM_024451998.1:c.1973A>T, XM_024451997.2:c.1973A>T, XM_024451997.1:c.1973A>T, XM_011529036.2:c.1973A>T, XM_011529036.1:c.1973A>T, XM_047440462.1:c.1973A>T, XM_047440461.1:c.1973A>T, XM_047440460.1:c.1973A>T, XM_047440459.1:c.1973A>T, NM_001385034.1:c.1973A>T, XM_047440465.1:c.1973A>T, XM_047440463.1:c.1973A>T, XM_047440464.1:c.1973A>T, XP_005260602.1:p.Asn658Ile, NP_006517.1:p.Asn658Ile, XP_024307766.1:p.Asn658Ile, XP_024307765.1:p.Asn658Ile, XP_011527338.1:p.Asn658Ile, XP_047296418.1:p.Asn658Ile, XP_047296417.1:p.Asn658Ile, XP_047296416.1:p.Asn658Ile, XP_047296415.1:p.Asn658Ile, NP_001371963.1:p.Asn658Ile, XP_047296421.1:p.Asn658Ile, XP_047296419.1:p.Asn658Ile, XP_047296420.1:p.Asn658Ile

Select item 14872009772.

rs1487200977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:53582410 (GRCh38)
20:52198949 (GRCh37)
Canonical SPDI:: NC_000020.11:53582409:G:A
Gene:: ZNF217 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.53582410G>A, NC_000020.10:g.52198949G>A, XM_005260545.5:c.417C>T, XM_005260545.4:c.417C>T, XM_005260545.3:c.417C>T, XM_005260545.2:c.417C>T, XM_005260545.1:c.417C>T, NM_006526.3:c.417C>T, NM_006526.2:c.417C>T, XM_024451998.2:c.417C>T, XM_024451998.1:c.417C>T, XM_024451997.2:c.417C>T, XM_024451997.1:c.417C>T, XM_011529036.2:c.417C>T, XM_011529036.1:c.417C>T, XM_047440462.1:c.417C>T, XM_047440461.1:c.417C>T, XM_047440460.1:c.417C>T, XM_047440459.1:c.417C>T, NM_001385034.1:c.417C>T, XM_047440465.1:c.417C>T, XM_047440463.1:c.417C>T, XM_047440464.1:c.417C>T

Select item 14870822113.

rs1487082211 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:53582775 (GRCh38)
20:52199314 (GRCh37)
Canonical SPDI:: NC_000020.11:53582774:T:C
Gene:: ZNF217 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000020.11:g.53582775T>C, NC_000020.10:g.52199314T>C, XM_005260545.5:c.52A>G, XM_005260545.4:c.52A>G, XM_005260545.3:c.52A>G, XM_005260545.2:c.52A>G, XM_005260545.1:c.52A>G, NM_006526.3:c.52A>G, NM_006526.2:c.52A>G, XM_024451998.2:c.52A>G, XM_024451998.1:c.52A>G, XM_024451997.2:c.52A>G, XM_024451997.1:c.52A>G, XM_011529036.2:c.52A>G, XM_011529036.1:c.52A>G, XM_047440462.1:c.52A>G, XM_047440461.1:c.52A>G, XM_047440460.1:c.52A>G, XM_047440459.1:c.52A>G, NM_001385034.1:c.52A>G, XM_047440465.1:c.52A>G, XM_047440463.1:c.52A>G, XM_047440464.1:c.52A>G, XP_005260602.1:p.Met18Val, NP_006517.1:p.Met18Val, XP_024307766.1:p.Met18Val, XP_024307765.1:p.Met18Val, XP_011527338.1:p.Met18Val, XP_047296418.1:p.Met18Val, XP_047296417.1:p.Met18Val, XP_047296416.1:p.Met18Val, XP_047296415.1:p.Met18Val, NP_001371963.1:p.Met18Val, XP_047296421.1:p.Met18Val, XP_047296419.1:p.Met18Val, XP_047296420.1:p.Met18Val

Select item 14856795074.

rs1485679507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:53576273 (GRCh38)
20:52192812 (GRCh37)
Canonical SPDI:: NC_000020.11:53576272:C:G
Gene:: ZNF217 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.53576273C>G, NC_000020.10:g.52192812C>G, XM_005260545.5:c.2491G>C, XM_005260545.4:c.2491G>C, XM_005260545.3:c.2491G>C, XM_005260545.2:c.2491G>C, XM_005260545.1:c.2491G>C, NM_006526.3:c.2491G>C, NM_006526.2:c.2491G>C, XM_024451998.2:c.2491G>C, XM_024451998.1:c.2491G>C, XM_024451997.2:c.2491G>C, XM_024451997.1:c.2491G>C, XM_011529036.2:c.2491G>C, XM_011529036.1:c.2491G>C, XM_047440462.1:c.2491G>C, XM_047440461.1:c.2491G>C, XM_047440460.1:c.2491G>C, XM_047440459.1:c.2491G>C, NM_001385034.1:c.2491G>C, XM_047440465.1:c.2491G>C, XM_047440463.1:c.2491G>C, XM_047440464.1:c.2491G>C, XP_005260602.1:p.Gly831Arg, NP_006517.1:p.Gly831Arg, XP_024307766.1:p.Gly831Arg, XP_024307765.1:p.Gly831Arg, XP_011527338.1:p.Gly831Arg, XP_047296418.1:p.Gly831Arg, XP_047296417.1:p.Gly831Arg, XP_047296416.1:p.Gly831Arg, XP_047296415.1:p.Gly831Arg, NP_001371963.1:p.Gly831Arg, XP_047296421.1:p.Gly831Arg, XP_047296419.1:p.Gly831Arg, XP_047296420.1:p.Gly831Arg

Select item 14852553445.

rs1485255344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:53576518 (GRCh38)
20:52193057 (GRCh37)
Canonical SPDI:: NC_000020.11:53576517:A:G
Gene:: ZNF217 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.53576518A>G, NC_000020.10:g.52193057A>G, XM_005260545.5:c.2246T>C, XM_005260545.4:c.2246T>C, XM_005260545.3:c.2246T>C, XM_005260545.2:c.2246T>C, XM_005260545.1:c.2246T>C, NM_006526.3:c.2246T>C, NM_006526.2:c.2246T>C, XM_024451998.2:c.2246T>C, XM_024451998.1:c.2246T>C, XM_024451997.2:c.2246T>C, XM_024451997.1:c.2246T>C, XM_011529036.2:c.2246T>C, XM_011529036.1:c.2246T>C, XM_047440462.1:c.2246T>C, XM_047440461.1:c.2246T>C, XM_047440460.1:c.2246T>C, XM_047440459.1:c.2246T>C, NM_001385034.1:c.2246T>C, XM_047440465.1:c.2246T>C, XM_047440463.1:c.2246T>C, XM_047440464.1:c.2246T>C, XP_005260602.1:p.Leu749Pro, NP_006517.1:p.Leu749Pro, XP_024307766.1:p.Leu749Pro, XP_024307765.1:p.Leu749Pro, XP_011527338.1:p.Leu749Pro, XP_047296418.1:p.Leu749Pro, XP_047296417.1:p.Leu749Pro, XP_047296416.1:p.Leu749Pro, XP_047296415.1:p.Leu749Pro, NP_001371963.1:p.Leu749Pro, XP_047296421.1:p.Leu749Pro, XP_047296419.1:p.Leu749Pro, XP_047296420.1:p.Leu749Pro

Select item 14828900496.

rs1482890049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:53582020 (GRCh38)
20:52198559 (GRCh37)
Canonical SPDI:: NC_000020.11:53582019:G:C
Gene:: ZNF217 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.53582020G>C, NC_000020.10:g.52198559G>C, XM_005260545.5:c.807C>G, XM_005260545.4:c.807C>G, XM_005260545.3:c.807C>G, XM_005260545.2:c.807C>G, XM_005260545.1:c.807C>G, NM_006526.3:c.807C>G, NM_006526.2:c.807C>G, XM_024451998.2:c.807C>G, XM_024451998.1:c.807C>G, XM_024451997.2:c.807C>G, XM_024451997.1:c.807C>G, XM_011529036.2:c.807C>G, XM_011529036.1:c.807C>G, XM_047440462.1:c.807C>G, XM_047440461.1:c.807C>G, XM_047440460.1:c.807C>G, XM_047440459.1:c.807C>G, NM_001385034.1:c.807C>G, XM_047440465.1:c.807C>G, XM_047440463.1:c.807C>G, XM_047440464.1:c.807C>G, XP_005260602.1:p.Phe269Leu, NP_006517.1:p.Phe269Leu, XP_024307766.1:p.Phe269Leu, XP_024307765.1:p.Phe269Leu, XP_011527338.1:p.Phe269Leu, XP_047296418.1:p.Phe269Leu, XP_047296417.1:p.Phe269Leu, XP_047296416.1:p.Phe269Leu, XP_047296415.1:p.Phe269Leu, NP_001371963.1:p.Phe269Leu, XP_047296421.1:p.Phe269Leu, XP_047296419.1:p.Phe269Leu, XP_047296420.1:p.Phe269Leu

Select item 14814208737.

rs1481420873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:53582393 (GRCh38)
20:52198932 (GRCh37)
Canonical SPDI:: NC_000020.11:53582392:A:C
Gene:: ZNF217 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.53582393A>C, NC_000020.10:g.52198932A>C, XM_005260545.5:c.434T>G, XM_005260545.4:c.434T>G, XM_005260545.3:c.434T>G, XM_005260545.2:c.434T>G, XM_005260545.1:c.434T>G, NM_006526.3:c.434T>G, NM_006526.2:c.434T>G, XM_024451998.2:c.434T>G, XM_024451998.1:c.434T>G, XM_024451997.2:c.434T>G, XM_024451997.1:c.434T>G, XM_011529036.2:c.434T>G, XM_011529036.1:c.434T>G, XM_047440462.1:c.434T>G, XM_047440461.1:c.434T>G, XM_047440460.1:c.434T>G, XM_047440459.1:c.434T>G, NM_001385034.1:c.434T>G, XM_047440465.1:c.434T>G, XM_047440463.1:c.434T>G, XM_047440464.1:c.434T>G, XP_005260602.1:p.Ile145Ser, NP_006517.1:p.Ile145Ser, XP_024307766.1:p.Ile145Ser, XP_024307765.1:p.Ile145Ser, XP_011527338.1:p.Ile145Ser, XP_047296418.1:p.Ile145Ser, XP_047296417.1:p.Ile145Ser, XP_047296416.1:p.Ile145Ser, XP_047296415.1:p.Ile145Ser, NP_001371963.1:p.Ile145Ser, XP_047296421.1:p.Ile145Ser, XP_047296419.1:p.Ile145Ser, XP_047296420.1:p.Ile145Ser

Select item 14811218628.

rs1481121862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:53582679 (GRCh38)
20:52199218 (GRCh37)
Canonical SPDI:: NC_000020.11:53582678:C:A,NC_000020.11:53582678:C:T
Gene:: ZNF217 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.53582679C>A, NC_000020.11:g.53582679C>T, NC_000020.10:g.52199218C>A, NC_000020.10:g.52199218C>T, XM_005260545.5:c.148G>T, XM_005260545.5:c.148G>A, XM_005260545.4:c.148G>T, XM_005260545.4:c.148G>A, XM_005260545.3:c.148G>T, XM_005260545.3:c.148G>A, XM_005260545.2:c.148G>T, XM_005260545.2:c.148G>A, XM_005260545.1:c.148G>T, XM_005260545.1:c.148G>A, NM_006526.3:c.148G>T, NM_006526.3:c.148G>A, NM_006526.2:c.148G>T, NM_006526.2:c.148G>A, XM_024451998.2:c.148G>T, XM_024451998.2:c.148G>A, XM_024451998.1:c.148G>T, XM_024451998.1:c.148G>A, XM_024451997.2:c.148G>T, XM_024451997.2:c.148G>A, XM_024451997.1:c.148G>T, XM_024451997.1:c.148G>A, XM_011529036.2:c.148G>T, XM_011529036.2:c.148G>A, XM_011529036.1:c.148G>T, XM_011529036.1:c.148G>A, XM_047440462.1:c.148G>T, XM_047440462.1:c.148G>A, XM_047440461.1:c.148G>T, XM_047440461.1:c.148G>A, XM_047440460.1:c.148G>T, XM_047440460.1:c.148G>A, XM_047440459.1:c.148G>T, XM_047440459.1:c.148G>A, NM_001385034.1:c.148G>T, NM_001385034.1:c.148G>A, XM_047440465.1:c.148G>T, XM_047440465.1:c.148G>A, XM_047440463.1:c.148G>T, XM_047440463.1:c.148G>A, XM_047440464.1:c.148G>T, XM_047440464.1:c.148G>A, XP_005260602.1:p.Ala50Ser, XP_005260602.1:p.Ala50Thr, NP_006517.1:p.Ala50Ser, NP_006517.1:p.Ala50Thr, XP_024307766.1:p.Ala50Ser, XP_024307766.1:p.Ala50Thr, XP_024307765.1:p.Ala50Ser, XP_024307765.1:p.Ala50Thr, XP_011527338.1:p.Ala50Ser, XP_011527338.1:p.Ala50Thr, XP_047296418.1:p.Ala50Ser, XP_047296418.1:p.Ala50Thr, XP_047296417.1:p.Ala50Ser, XP_047296417.1:p.Ala50Thr, XP_047296416.1:p.Ala50Ser, XP_047296416.1:p.Ala50Thr, XP_047296415.1:p.Ala50Ser, XP_047296415.1:p.Ala50Thr, NP_001371963.1:p.Ala50Ser, NP_001371963.1:p.Ala50Thr, XP_047296421.1:p.Ala50Ser, XP_047296421.1:p.Ala50Thr, XP_047296419.1:p.Ala50Ser, XP_047296419.1:p.Ala50Thr, XP_047296420.1:p.Ala50Ser, XP_047296420.1:p.Ala50Thr

Select item 14804858539.

rs1480485853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:53576828 (GRCh38)
20:52193367 (GRCh37)
Canonical SPDI:: NC_000020.11:53576827:C:T
Gene:: ZNF217 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.53576828C>T, NC_000020.10:g.52193367C>T, XM_005260545.5:c.1936G>A, XM_005260545.4:c.1936G>A, XM_005260545.3:c.1936G>A, XM_005260545.2:c.1936G>A, XM_005260545.1:c.1936G>A, NM_006526.3:c.1936G>A, NM_006526.2:c.1936G>A, XM_024451998.2:c.1936G>A, XM_024451998.1:c.1936G>A, XM_024451997.2:c.1936G>A, XM_024451997.1:c.1936G>A, XM_011529036.2:c.1936G>A, XM_011529036.1:c.1936G>A, XM_047440462.1:c.1936G>A, XM_047440461.1:c.1936G>A, XM_047440460.1:c.1936G>A, XM_047440459.1:c.1936G>A, NM_001385034.1:c.1936G>A, XM_047440465.1:c.1936G>A, XM_047440463.1:c.1936G>A, XM_047440464.1:c.1936G>A, XP_005260602.1:p.Asp646Asn, NP_006517.1:p.Asp646Asn, XP_024307766.1:p.Asp646Asn, XP_024307765.1:p.Asp646Asn, XP_011527338.1:p.Asp646Asn, XP_047296418.1:p.Asp646Asn, XP_047296417.1:p.Asp646Asn, XP_047296416.1:p.Asp646Asn, XP_047296415.1:p.Asp646Asn, NP_001371963.1:p.Asp646Asn, XP_047296421.1:p.Asp646Asn, XP_047296419.1:p.Asp646Asn, XP_047296420.1:p.Asp646Asn

Select item 147891632110.

rs1478916321 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCGCACTGTCAGCGGTT>- [Show Flanks]
Chromosome:: 20:53577106 (GRCh38)
20:52193645 (GRCh37)
Canonical SPDI:: NC_000020.11:53577101:GGTTTGCGCACTGTCAGCGGTT:GGTT
Gene:: ZNF217 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GGTT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.53577106_53577123del, NC_000020.10:g.52193645_52193662del, XM_005260545.5:c.1645_1662del, XM_005260545.4:c.1645_1662del, XM_005260545.3:c.1645_1662del, XM_005260545.2:c.1645_1662del, XM_005260545.1:c.1645_1662del, NM_006526.3:c.1645_1662del, NM_006526.2:c.1645_1662del, XM_024451998.2:c.1645_1662del, XM_024451998.1:c.1645_1662del, XM_024451997.2:c.1645_1662del, XM_024451997.1:c.1645_1662del, XM_011529036.2:c.1645_1662del, XM_011529036.1:c.1645_1662del, XM_047440462.1:c.1645_1662del, XM_047440461.1:c.1645_1662del, XM_047440460.1:c.1645_1662del, XM_047440459.1:c.1645_1662del, NM_001385034.1:c.1645_1662del, XM_047440465.1:c.1645_1662del, XM_047440463.1:c.1645_1662del, XM_047440464.1:c.1645_1662del, XP_005260602.1:p.Ala549_Thr554del, NP_006517.1:p.Ala549_Thr554del, XP_024307766.1:p.Ala549_Thr554del, XP_024307765.1:p.Ala549_Thr554del, XP_011527338.1:p.Ala549_Thr554del, XP_047296418.1:p.Ala549_Thr554del, XP_047296417.1:p.Ala549_Thr554del, XP_047296416.1:p.Ala549_Thr554del, XP_047296415.1:p.Ala549_Thr554del, NP_001371963.1:p.Ala549_Thr554del, XP_047296421.1:p.Ala549_Thr554del, XP_047296419.1:p.Ala549_Thr554del, XP_047296420.1:p.Ala549_Thr554del

Select item 147522647011.

rs1475226470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:53576912 (GRCh38)
20:52193451 (GRCh37)
Canonical SPDI:: NC_000020.11:53576911:G:A
Gene:: ZNF217 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.53576912G>A, NC_000020.10:g.52193451G>A, XM_005260545.5:c.1852C>T, XM_005260545.4:c.1852C>T, XM_005260545.3:c.1852C>T, XM_005260545.2:c.1852C>T, XM_005260545.1:c.1852C>T, NM_006526.3:c.1852C>T, NM_006526.2:c.1852C>T, XM_024451998.2:c.1852C>T, XM_024451998.1:c.1852C>T, XM_024451997.2:c.1852C>T, XM_024451997.1:c.1852C>T, XM_011529036.2:c.1852C>T, XM_011529036.1:c.1852C>T, XM_047440462.1:c.1852C>T, XM_047440461.1:c.1852C>T, XM_047440460.1:c.1852C>T, XM_047440459.1:c.1852C>T, NM_001385034.1:c.1852C>T, XM_047440465.1:c.1852C>T, XM_047440463.1:c.1852C>T, XM_047440464.1:c.1852C>T, XP_005260602.1:p.Pro618Ser, NP_006517.1:p.Pro618Ser, XP_024307766.1:p.Pro618Ser, XP_024307765.1:p.Pro618Ser, XP_011527338.1:p.Pro618Ser, XP_047296418.1:p.Pro618Ser, XP_047296417.1:p.Pro618Ser, XP_047296416.1:p.Pro618Ser, XP_047296415.1:p.Pro618Ser, NP_001371963.1:p.Pro618Ser, XP_047296421.1:p.Pro618Ser, XP_047296419.1:p.Pro618Ser, XP_047296420.1:p.Pro618Ser

Select item 147484262712.

rs1474842627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:53576442 (GRCh38)
20:52192981 (GRCh37)
Canonical SPDI:: NC_000020.11:53576441:G:C
Gene:: ZNF217 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.53576442G>C, NC_000020.10:g.52192981G>C, XM_005260545.5:c.2322C>G, XM_005260545.4:c.2322C>G, XM_005260545.3:c.2322C>G, XM_005260545.2:c.2322C>G, XM_005260545.1:c.2322C>G, NM_006526.3:c.2322C>G, NM_006526.2:c.2322C>G, XM_024451998.2:c.2322C>G, XM_024451998.1:c.2322C>G, XM_024451997.2:c.2322C>G, XM_024451997.1:c.2322C>G, XM_011529036.2:c.2322C>G, XM_011529036.1:c.2322C>G, XM_047440462.1:c.2322C>G, XM_047440461.1:c.2322C>G, XM_047440460.1:c.2322C>G, XM_047440459.1:c.2322C>G, NM_001385034.1:c.2322C>G, XM_047440465.1:c.2322C>G, XM_047440463.1:c.2322C>G, XM_047440464.1:c.2322C>G

Select item 147482246713.

rs1474822467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:53576990 (GRCh38)
20:52193529 (GRCh37)
Canonical SPDI:: NC_000020.11:53576989:G:A
Gene:: ZNF217 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.53576990G>A, NC_000020.10:g.52193529G>A, XM_005260545.5:c.1774C>T, XM_005260545.4:c.1774C>T, XM_005260545.3:c.1774C>T, XM_005260545.2:c.1774C>T, XM_005260545.1:c.1774C>T, NM_006526.3:c.1774C>T, NM_006526.2:c.1774C>T, XM_024451998.2:c.1774C>T, XM_024451998.1:c.1774C>T, XM_024451997.2:c.1774C>T, XM_024451997.1:c.1774C>T, XM_011529036.2:c.1774C>T, XM_011529036.1:c.1774C>T, XM_047440462.1:c.1774C>T, XM_047440461.1:c.1774C>T, XM_047440460.1:c.1774C>T, XM_047440459.1:c.1774C>T, NM_001385034.1:c.1774C>T, XM_047440465.1:c.1774C>T, XM_047440463.1:c.1774C>T, XM_047440464.1:c.1774C>T, XP_005260602.1:p.Leu592Phe, NP_006517.1:p.Leu592Phe, XP_024307766.1:p.Leu592Phe, XP_024307765.1:p.Leu592Phe, XP_011527338.1:p.Leu592Phe, XP_047296418.1:p.Leu592Phe, XP_047296417.1:p.Leu592Phe, XP_047296416.1:p.Leu592Phe, XP_047296415.1:p.Leu592Phe, NP_001371963.1:p.Leu592Phe, XP_047296421.1:p.Leu592Phe, XP_047296419.1:p.Leu592Phe, XP_047296420.1:p.Leu592Phe

Select item 147477184014.

rs1474771840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:53576228 (GRCh38)
20:52192767 (GRCh37)
Canonical SPDI:: NC_000020.11:53576227:T:C
Gene:: ZNF217 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.53576228T>C, NC_000020.10:g.52192767T>C, XM_005260545.5:c.2536A>G, XM_005260545.4:c.2536A>G, XM_005260545.3:c.2536A>G, XM_005260545.2:c.2536A>G, XM_005260545.1:c.2536A>G, NM_006526.3:c.2536A>G, NM_006526.2:c.2536A>G, XM_024451998.2:c.2536A>G, XM_024451998.1:c.2536A>G, XM_024451997.2:c.2536A>G, XM_024451997.1:c.2536A>G, XM_011529036.2:c.2536A>G, XM_011529036.1:c.2536A>G, XM_047440462.1:c.2536A>G, XM_047440461.1:c.2536A>G, XM_047440460.1:c.2536A>G, XM_047440459.1:c.2536A>G, NM_001385034.1:c.2536A>G, XM_047440465.1:c.2536A>G, XM_047440463.1:c.2536A>G, XM_047440464.1:c.2536A>G, XP_005260602.1:p.Ser846Gly, NP_006517.1:p.Ser846Gly, XP_024307766.1:p.Ser846Gly, XP_024307765.1:p.Ser846Gly, XP_011527338.1:p.Ser846Gly, XP_047296418.1:p.Ser846Gly, XP_047296417.1:p.Ser846Gly, XP_047296416.1:p.Ser846Gly, XP_047296415.1:p.Ser846Gly, NP_001371963.1:p.Ser846Gly, XP_047296421.1:p.Ser846Gly, XP_047296419.1:p.Ser846Gly, XP_047296420.1:p.Ser846Gly

Select item 147355890215.

rs1473558902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:53576870 (GRCh38)
20:52193409 (GRCh37)
Canonical SPDI:: NC_000020.11:53576869:C:T
Gene:: ZNF217 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.53576870C>T, NC_000020.10:g.52193409C>T, XM_005260545.5:c.1894G>A, XM_005260545.4:c.1894G>A, XM_005260545.3:c.1894G>A, XM_005260545.2:c.1894G>A, XM_005260545.1:c.1894G>A, NM_006526.3:c.1894G>A, NM_006526.2:c.1894G>A, XM_024451998.2:c.1894G>A, XM_024451998.1:c.1894G>A, XM_024451997.2:c.1894G>A, XM_024451997.1:c.1894G>A, XM_011529036.2:c.1894G>A, XM_011529036.1:c.1894G>A, XM_047440462.1:c.1894G>A, XM_047440461.1:c.1894G>A, XM_047440460.1:c.1894G>A, XM_047440459.1:c.1894G>A, NM_001385034.1:c.1894G>A, XM_047440465.1:c.1894G>A, XM_047440463.1:c.1894G>A, XM_047440464.1:c.1894G>A, XP_005260602.1:p.Val632Ile, NP_006517.1:p.Val632Ile, XP_024307766.1:p.Val632Ile, XP_024307765.1:p.Val632Ile, XP_011527338.1:p.Val632Ile, XP_047296418.1:p.Val632Ile, XP_047296417.1:p.Val632Ile, XP_047296416.1:p.Val632Ile, XP_047296415.1:p.Val632Ile, NP_001371963.1:p.Val632Ile, XP_047296421.1:p.Val632Ile, XP_047296419.1:p.Val632Ile, XP_047296420.1:p.Val632Ile

Select item 147353106216.

rs1473531062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:53575941 (GRCh38)
20:52192480 (GRCh37)
Canonical SPDI:: NC_000020.11:53575940:G:A
Gene:: ZNF217 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000020.11:g.53575941G>A, NC_000020.10:g.52192480G>A, XM_005260545.5:c.2823C>T, XM_005260545.4:c.2823C>T, XM_005260545.3:c.2823C>T, XM_005260545.2:c.2823C>T, XM_005260545.1:c.2823C>T, NM_006526.3:c.2823C>T, NM_006526.2:c.2823C>T, XM_024451998.2:c.2823C>T, XM_024451998.1:c.2823C>T, XM_024451997.2:c.2823C>T, XM_024451997.1:c.2823C>T, XM_011529036.2:c.2823C>T, XM_011529036.1:c.2823C>T, XM_047440462.1:c.2823C>T, XM_047440461.1:c.2823C>T, XM_047440460.1:c.2823C>T, XM_047440459.1:c.2823C>T, NM_001385034.1:c.2823C>T, XM_047440465.1:c.2823C>T, XM_047440463.1:c.2823C>T, XM_047440464.1:c.2823C>T

Select item 147293238617.

rs1472932386 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAC [Show Flanks]
Chromosome:: 20:53581736 (GRCh38)
20:52198276 (GRCh37)
Canonical SPDI:: NC_000020.11:53581736::TAC
Gene:: ZNF217 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency,by alfa,by cluster
MAF:: TAC=0./0 (ALFA)
TAC=0.000004/1 (GnomAD_exomes)
TAC=0.000007/1 (GnomAD)
TAC=0.000049/13 (TOPMED)
HGVS:: NC_000020.11:g.53581736_53581737insTAC, NC_000020.10:g.52198275_52198276insTAC, XM_005260545.5:c.1090_1091insGTA, XM_005260545.4:c.1090_1091insGTA, XM_005260545.3:c.1090_1091insGTA, XM_005260545.2:c.1090_1091insGTA, XM_005260545.1:c.1090_1091insGTA, NM_006526.3:c.1090_1091insGTA, NM_006526.2:c.1090_1091insGTA, XM_024451998.2:c.1090_1091insGTA, XM_024451998.1:c.1090_1091insGTA, XM_024451997.2:c.1090_1091insGTA, XM_024451997.1:c.1090_1091insGTA, XM_011529036.2:c.1090_1091insGTA, XM_011529036.1:c.1090_1091insGTA, XM_047440462.1:c.1090_1091insGTA, XM_047440461.1:c.1090_1091insGTA, XM_047440460.1:c.1090_1091insGTA, XM_047440459.1:c.1090_1091insGTA, NM_001385034.1:c.1090_1091insGTA, XM_047440465.1:c.1090_1091insGTA, XM_047440463.1:c.1090_1091insGTA, XM_047440464.1:c.1090_1091insGTA, XP_005260602.1:p.Asp364delinsGlyAsn, NP_006517.1:p.Asp364delinsGlyAsn, XP_024307766.1:p.Asp364delinsGlyAsn, XP_024307765.1:p.Asp364delinsGlyAsn, XP_011527338.1:p.Asp364delinsGlyAsn, XP_047296418.1:p.Asp364delinsGlyAsn, XP_047296417.1:p.Asp364delinsGlyAsn, XP_047296416.1:p.Asp364delinsGlyAsn, XP_047296415.1:p.Asp364delinsGlyAsn, NP_001371963.1:p.Asp364delinsGlyAsn, XP_047296421.1:p.Asp364delinsGlyAsn, XP_047296419.1:p.Asp364delinsGlyAsn, XP_047296420.1:p.Asp364delinsGlyAsn

Select item 147194372918.

rs1471943729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:53571769 (GRCh38)
20:52188308 (GRCh37)
Canonical SPDI:: NC_000020.11:53571768:T:C
Gene:: ZNF217 (Varview), LOC101927770 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.53571769T>C, NC_000020.10:g.52188308T>C, NM_006526.3:c.3122A>G, NM_006526.2:c.3122A>G, XM_047440465.1:c.3122A>G, XM_047440463.1:c.3122A>G, XM_047440464.1:c.3122A>G, NP_006517.1:p.Tyr1041Cys, XP_047296421.1:p.Tyr1041Cys, XP_047296419.1:p.Tyr1041Cys, XP_047296420.1:p.Tyr1041Cys

Select item 147069034419.

rs1470690344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:53582779 (GRCh38)
20:52199318 (GRCh37)
Canonical SPDI:: NC_000020.11:53582778:C:T
Gene:: ZNF217 (Varview)
Functional Consequence:: missense_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_000020.11:g.53582779C>T, NC_000020.10:g.52199318C>T, XM_005260545.5:c.48G>A, XM_005260545.4:c.48G>A, XM_005260545.3:c.48G>A, XM_005260545.2:c.48G>A, XM_005260545.1:c.48G>A, NM_006526.3:c.48G>A, NM_006526.2:c.48G>A, XM_024451998.2:c.48G>A, XM_024451998.1:c.48G>A, XM_024451997.2:c.48G>A, XM_024451997.1:c.48G>A, XM_011529036.2:c.48G>A, XM_011529036.1:c.48G>A, XM_047440462.1:c.48G>A, XM_047440461.1:c.48G>A, XM_047440460.1:c.48G>A, XM_047440459.1:c.48G>A, NM_001385034.1:c.48G>A, XM_047440465.1:c.48G>A, XM_047440463.1:c.48G>A, XM_047440464.1:c.48G>A, XP_005260602.1:p.Met16Ile, NP_006517.1:p.Met16Ile, XP_024307766.1:p.Met16Ile, XP_024307765.1:p.Met16Ile, XP_011527338.1:p.Met16Ile, XP_047296418.1:p.Met16Ile, XP_047296417.1:p.Met16Ile, XP_047296416.1:p.Met16Ile, XP_047296415.1:p.Met16Ile, NP_001371963.1:p.Met16Ile, XP_047296421.1:p.Met16Ile, XP_047296419.1:p.Met16Ile, XP_047296420.1:p.Met16Ile

Select item 146907629720.

rs1469076297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:53577137 (GRCh38)
20:52193676 (GRCh37)
Canonical SPDI:: NC_000020.11:53577136:C:T
Gene:: ZNF217 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.53577137C>T, NC_000020.10:g.52193676C>T, XM_005260545.5:c.1627G>A, XM_005260545.4:c.1627G>A, XM_005260545.3:c.1627G>A, XM_005260545.2:c.1627G>A, XM_005260545.1:c.1627G>A, NM_006526.3:c.1627G>A, NM_006526.2:c.1627G>A, XM_024451998.2:c.1627G>A, XM_024451998.1:c.1627G>A, XM_024451997.2:c.1627G>A, XM_024451997.1:c.1627G>A, XM_011529036.2:c.1627G>A, XM_011529036.1:c.1627G>A, XM_047440462.1:c.1627G>A, XM_047440461.1:c.1627G>A, XM_047440460.1:c.1627G>A, XM_047440459.1:c.1627G>A, NM_001385034.1:c.1627G>A, XM_047440465.1:c.1627G>A, XM_047440463.1:c.1627G>A, XM_047440464.1:c.1627G>A, XP_005260602.1:p.Glu543Lys, NP_006517.1:p.Glu543Lys, XP_024307766.1:p.Glu543Lys, XP_024307765.1:p.Glu543Lys, XP_011527338.1:p.Glu543Lys, XP_047296418.1:p.Glu543Lys, XP_047296417.1:p.Glu543Lys, XP_047296416.1:p.Glu543Lys, XP_047296415.1:p.Glu543Lys, NP_001371963.1:p.Glu543Lys, XP_047296421.1:p.Glu543Lys, XP_047296419.1:p.Glu543Lys, XP_047296420.1:p.Glu543Lys

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