SNP Links for Protein (Select 24797065) - SNP

Links from Protein

Items: 1 to 20 of 510

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Select item 14890795221.

rs1489079522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:149252761 (GRCh38)
7:148949852 (GRCh37)
Canonical SPDI:: NC_000007.14:149252760:C:G
Gene:: ZNF212 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.149252761C>G, NC_000007.13:g.148949852C>G, NM_012256.4:c.597C>G, NM_012256.3:c.597C>G, NP_036388.2:p.Asp199Glu

Select item 14880184792.

rs1488018479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:149253592 (GRCh38)
7:148950683 (GRCh37)
Canonical SPDI:: NC_000007.14:149253591:A:G
Gene:: ZNF212 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149253592A>G, NC_000007.13:g.148950683A>G, NM_012256.4:c.665A>G, NM_012256.3:c.665A>G, NP_036388.2:p.Tyr222Cys

Select item 14858859423.

rs1485885942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:149250284 (GRCh38)
7:148947375 (GRCh37)
Canonical SPDI:: NC_000007.14:149250283:T:C
Gene:: ZNF212 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.149250284T>C, NC_000007.13:g.148947375T>C, NM_012256.4:c.150T>C, NM_012256.3:c.150T>C

Select item 14853099454.

rs1485309945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:149250770 (GRCh38)
7:148947861 (GRCh37)
Canonical SPDI:: NC_000007.14:149250769:C:T
Gene:: ZNF212 (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=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149250770C>T, NC_000007.13:g.148947861C>T, NM_012256.4:c.504C>T, NM_012256.3:c.504C>T

Select item 14788837605.

rs1478883760 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:149254395 (GRCh38)
7:148951486 (GRCh37)
Canonical SPDI:: NC_000007.14:149254394:A:G
Gene:: ZNF212 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.149254395A>G, NC_000007.13:g.148951486A>G, NM_012256.4:c.1468A>G, NM_012256.3:c.1468A>G, NP_036388.2:p.Arg490Gly

Select item 14764154386.

rs1476415438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:149253803 (GRCh38)
7:148950894 (GRCh37)
Canonical SPDI:: NC_000007.14:149253802:T:C
Gene:: ZNF212 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.149253803T>C, NC_000007.13:g.148950894T>C, NM_012256.4:c.876T>C, NM_012256.3:c.876T>C

Select item 14762717567.

rs1476271756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:149252724 (GRCh38)
7:148949815 (GRCh37)
Canonical SPDI:: NC_000007.14:149252723:A:C
Gene:: ZNF212 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000057/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.149252724A>C, NC_000007.13:g.148949815A>C, NM_012256.4:c.560A>C, NM_012256.3:c.560A>C, NP_036388.2:p.Glu187Ala

Select item 14762611858.

rs1476261185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:149254107 (GRCh38)
7:148951198 (GRCh37)
Canonical SPDI:: NC_000007.14:149254106:G:T
Gene:: ZNF212 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149254107G>T, NC_000007.13:g.148951198G>T, NM_012256.4:c.1180G>T, NM_012256.3:c.1180G>T, NP_036388.2:p.Glu394Ter

Select item 14743590609.

rs1474359060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:149253982 (GRCh38)
7:148951073 (GRCh37)
Canonical SPDI:: NC_000007.14:149253981:G:C
Gene:: ZNF212 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.149253982G>C, NC_000007.13:g.148951073G>C, NM_012256.4:c.1055G>C, NM_012256.3:c.1055G>C, NP_036388.2:p.Ser352Thr

Select item 147169163910.

rs1471691639 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:149254021 (GRCh38)
7:148951112 (GRCh37)
Canonical SPDI:: NC_000007.14:149254020:A:G
Gene:: ZNF212 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.149254021A>G, NC_000007.13:g.148951112A>G, NM_012256.4:c.1094A>G, NM_012256.3:c.1094A>G, NP_036388.2:p.Lys365Arg

Select item 146882584311.

rs1468825843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:149254190 (GRCh38)
7:148951281 (GRCh37)
Canonical SPDI:: NC_000007.14:149254189:G:A
Gene:: ZNF212 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149254190G>A, NC_000007.13:g.148951281G>A, NM_012256.4:c.1263G>A, NM_012256.3:c.1263G>A

Select item 146873101412.

rs1468731014 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:149254264 (GRCh38)
7:148951355 (GRCh37)
Canonical SPDI:: NC_000007.14:149254263:A:C
Gene:: ZNF212 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149254264A>C, NC_000007.13:g.148951355A>C, NM_012256.4:c.1337A>C, NM_012256.3:c.1337A>C, NP_036388.2:p.Gln446Pro

Select item 146791599813.

rs1467915998 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:149250507 (GRCh38)
7:148947598 (GRCh37)
Canonical SPDI:: NC_000007.14:149250506:A:G,NC_000007.14:149250506:A:T
Gene:: ZNF212 (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=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149250507A>G, NC_000007.14:g.149250507A>T, NC_000007.13:g.148947598A>G, NC_000007.13:g.148947598A>T, NM_012256.4:c.373A>G, NM_012256.4:c.373A>T, NM_012256.3:c.373A>G, NM_012256.3:c.373A>T, NP_036388.2:p.Ile125Val, NP_036388.2:p.Ile125Phe

Select item 146739626314.

rs1467396263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:149253915 (GRCh38)
7:148951006 (GRCh37)
Canonical SPDI:: NC_000007.14:149253914:C:T
Gene:: ZNF212 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000007.14:g.149253915C>T, NC_000007.13:g.148951006C>T, NM_012256.4:c.988C>T, NM_012256.3:c.988C>T, NP_036388.2:p.Gln330Ter

Select item 146647145015.

rs1466471450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:149250522 (GRCh38)
7:148947613 (GRCh37)
Canonical SPDI:: NC_000007.14:149250521:C:G
Gene:: ZNF212 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.149250522C>G, NC_000007.13:g.148947613C>G, NM_012256.4:c.388C>G, NM_012256.3:c.388C>G, NP_036388.2:p.Pro130Ala

Select item 146636619516.

rs1466366195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:149250302 (GRCh38)
7:148947393 (GRCh37)
Canonical SPDI:: NC_000007.14:149250301:G:A
Gene:: ZNF212 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.149250302G>A, NC_000007.13:g.148947393G>A, NM_012256.4:c.168G>A, NM_012256.3:c.168G>A

Select item 146333646317.

rs1463336463 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:149254291 (GRCh38)
7:148951382 (GRCh37)
Canonical SPDI:: NC_000007.14:149254290:A:G
Gene:: ZNF212 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149254291A>G, NC_000007.13:g.148951382A>G, NM_012256.4:c.1364A>G, NM_012256.3:c.1364A>G, NP_036388.2:p.Tyr455Cys

Select item 146139908018.

rs1461399080 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:149250463 (GRCh38)
7:148947554 (GRCh37)
Canonical SPDI:: NC_000007.14:149250462:G:A
Gene:: ZNF212 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.149250463G>A, NC_000007.13:g.148947554G>A, NM_012256.4:c.329G>A, NM_012256.3:c.329G>A, NP_036388.2:p.Arg110Gln

Select item 145803740719.

rs1458037407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:149254085 (GRCh38)
7:148951176 (GRCh37)
Canonical SPDI:: NC_000007.14:149254084:C:A
Gene:: ZNF212 (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_000007.14:g.149254085C>A, NC_000007.13:g.148951176C>A, NM_012256.4:c.1158C>A, NM_012256.3:c.1158C>A

Select item 145370574220.

rs1453705742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:149253821 (GRCh38)
7:148950912 (GRCh37)
Canonical SPDI:: NC_000007.14:149253820:G:A
Gene:: ZNF212 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000007.14:g.149253821G>A, NC_000007.13:g.148950912G>A, NM_012256.4:c.894G>A, NM_012256.3:c.894G>A

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