SNP Links for Protein (Select 7705495) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55644970 (GRCh38)
19:56156336 (GRCh37)
Canonical SPDI:: NC_000019.10:55644969:C:T
Gene:: ZNF581 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55644970C>T, NC_000019.9:g.56156336C>T, NM_016535.4:c.399C>T, NM_016535.3:c.399C>T, XM_017026867.2:c.399C>T, XM_017026867.1:c.399C>T

Select item 14378036607.

rs1437803660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55644689 (GRCh38)
19:56156055 (GRCh37)
Canonical SPDI:: NC_000019.10:55644688:G:A
Gene:: ZNF581 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.55644689G>A, NC_000019.9:g.56156055G>A, NM_016535.4:c.118G>A, NM_016535.3:c.118G>A, XM_017026867.2:c.118G>A, XM_017026867.1:c.118G>A, NP_057619.1:p.Gly40Arg, XP_016882356.1:p.Gly40Arg

Select item 14368469168.

rs1436846916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55645153 (GRCh38)
19:56156519 (GRCh37)
Canonical SPDI:: NC_000019.10:55645152:G:A
Gene:: ZNF581 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.55645153G>A, NC_000019.9:g.56156519G>A, NM_016535.4:c.582G>A, NM_016535.3:c.582G>A, XM_017026867.2:c.582G>A, XM_017026867.1:c.582G>A, NP_057619.1:p.Trp194Ter, XP_016882356.1:p.Trp194Ter

Select item 14337392999.

rs1433739299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:55644793 (GRCh38)
19:56156159 (GRCh37)
Canonical SPDI:: NC_000019.10:55644792:G:A,NC_000019.10:55644792:G:T
Gene:: ZNF581 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55644793G>A, NC_000019.10:g.55644793G>T, NC_000019.9:g.56156159G>A, NC_000019.9:g.56156159G>T, NM_016535.4:c.222G>A, NM_016535.4:c.222G>T, NM_016535.3:c.222G>A, NM_016535.3:c.222G>T, XM_017026867.2:c.222G>A, XM_017026867.2:c.222G>T, XM_017026867.1:c.222G>A, XM_017026867.1:c.222G>T, NP_057619.1:p.Glu74Asp, XP_016882356.1:p.Glu74Asp

Select item 143343060410.

rs1433430604 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55644596 (GRCh38)
19:56155962 (GRCh37)
Canonical SPDI:: NC_000019.10:55644595:C:T
Gene:: ZNF581 (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_000019.10:g.55644596C>T, NC_000019.9:g.56155962C>T, NM_016535.4:c.25C>T, NM_016535.3:c.25C>T, XM_017026867.2:c.25C>T, XM_017026867.1:c.25C>T, NP_057619.1:p.Pro9Ser, XP_016882356.1:p.Pro9Ser

Select item 143337477111.

rs1433374771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:55644919 (GRCh38)
19:56156285 (GRCh37)
Canonical SPDI:: NC_000019.10:55644918:G:A,NC_000019.10:55644918:G:C
Gene:: ZNF581 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.55644919G>A, NC_000019.10:g.55644919G>C, NC_000019.9:g.56156285G>A, NC_000019.9:g.56156285G>C, NM_016535.4:c.348G>A, NM_016535.4:c.348G>C, NM_016535.3:c.348G>A, NM_016535.3:c.348G>C, XM_017026867.2:c.348G>A, XM_017026867.2:c.348G>C, XM_017026867.1:c.348G>A, XM_017026867.1:c.348G>C, NP_057619.1:p.Glu116Asp, XP_016882356.1:p.Glu116Asp

Select item 142982849512.

rs1429828495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55644584 (GRCh38)
19:56155950 (GRCh37)
Canonical SPDI:: NC_000019.10:55644583:C:T
Gene:: ZNF581 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.55644584C>T, NC_000019.9:g.56155950C>T, NM_016535.4:c.13C>T, NM_016535.3:c.13C>T, XM_017026867.2:c.13C>T, XM_017026867.1:c.13C>T, NP_057619.1:p.Pro5Ser, XP_016882356.1:p.Pro5Ser

Select item 142735778913.

rs1427357789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55644912 (GRCh38)
19:56156278 (GRCh37)
Canonical SPDI:: NC_000019.10:55644911:C:T
Gene:: ZNF581 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55644912C>T, NC_000019.9:g.56156278C>T, NM_016535.4:c.341C>T, NM_016535.3:c.341C>T, XM_017026867.2:c.341C>T, XM_017026867.1:c.341C>T, NP_057619.1:p.Pro114Leu, XP_016882356.1:p.Pro114Leu

Select item 142697749914.

rs1426977499 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCTCCGTT>- [Show Flanks]
Chromosome:: 19:55644614 (GRCh38)
19:56155980 (GRCh37)
Canonical SPDI:: NC_000019.10:55644611:TTTCCTCCGTT:TT
Gene:: ZNF581 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000019.10:g.55644614_55644622del, NC_000019.9:g.56155980_56155988del, NM_016535.4:c.43_51del, NM_016535.3:c.43_51del, XM_017026867.2:c.43_51del, XM_017026867.1:c.43_51del, NP_057619.1:p.Ser15_Val17del, XP_016882356.1:p.Ser15_Val17del

Select item 142603514715.

rs1426035147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:55645086 (GRCh38)
19:56156452 (GRCh37)
Canonical SPDI:: NC_000019.10:55645085:C:G,NC_000019.10:55645085:C:T
Gene:: ZNF581 (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)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55645086C>G, NC_000019.10:g.55645086C>T, NC_000019.9:g.56156452C>G, NC_000019.9:g.56156452C>T, NM_016535.4:c.515C>G, NM_016535.4:c.515C>T, NM_016535.3:c.515C>G, NM_016535.3:c.515C>T, XM_017026867.2:c.515C>G, XM_017026867.2:c.515C>T, XM_017026867.1:c.515C>G, XM_017026867.1:c.515C>T, NP_057619.1:p.Pro172Arg, NP_057619.1:p.Pro172Leu, XP_016882356.1:p.Pro172Arg, XP_016882356.1:p.Pro172Leu

Select item 142083882816.

rs1420838828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:55644588 (GRCh38)
19:56155954 (GRCh37)
Canonical SPDI:: NC_000019.10:55644587:C:A,NC_000019.10:55644587:C:T
Gene:: ZNF581 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.55644588C>A, NC_000019.10:g.55644588C>T, NC_000019.9:g.56155954C>A, NC_000019.9:g.56155954C>T, NM_016535.4:c.17C>A, NM_016535.4:c.17C>T, NM_016535.3:c.17C>A, NM_016535.3:c.17C>T, XM_017026867.2:c.17C>A, XM_017026867.2:c.17C>T, XM_017026867.1:c.17C>A, XM_017026867.1:c.17C>T, NP_057619.1:p.Ser6Tyr, NP_057619.1:p.Ser6Phe, XP_016882356.1:p.Ser6Tyr, XP_016882356.1:p.Ser6Phe

Select item 141739073617.

rs1417390736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55645025 (GRCh38)
19:56156391 (GRCh37)
Canonical SPDI:: NC_000019.10:55645024:C:T
Gene:: ZNF581 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.55645025C>T, NC_000019.9:g.56156391C>T, NM_016535.4:c.454C>T, NM_016535.3:c.454C>T, XM_017026867.2:c.454C>T, XM_017026867.1:c.454C>T, NP_057619.1:p.Arg152Cys, XP_016882356.1:p.Arg152Cys

Select item 141487521818.

rs1414875218 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:55644969 (GRCh38)
19:56156335 (GRCh37)
Canonical SPDI:: NC_000019.10:55644968:A:T
Gene:: ZNF581 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55644969A>T, NC_000019.9:g.56156335A>T, NM_016535.4:c.398A>T, NM_016535.3:c.398A>T, XM_017026867.2:c.398A>T, XM_017026867.1:c.398A>T, NP_057619.1:p.His133Leu, XP_016882356.1:p.His133Leu

Select item 141177169719.

rs1411771697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:55644651 (GRCh38)
19:56156017 (GRCh37)
Canonical SPDI:: NC_000019.10:55644650:C:G
Gene:: ZNF581 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55644651C>G, NC_000019.9:g.56156017C>G, NM_016535.4:c.80C>G, NM_016535.3:c.80C>G, XM_017026867.2:c.80C>G, XM_017026867.1:c.80C>G, NP_057619.1:p.Thr27Ser, XP_016882356.1:p.Thr27Ser

Select item 139605294920.

rs1396052949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:55644776 (GRCh38)
19:56156142 (GRCh37)
Canonical SPDI:: NC_000019.10:55644775:G:A,NC_000019.10:55644775:G:C
Gene:: ZNF581 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55644776G>A, NC_000019.10:g.55644776G>C, NC_000019.9:g.56156142G>A, NC_000019.9:g.56156142G>C, NM_016535.4:c.205G>A, NM_016535.4:c.205G>C, NM_016535.3:c.205G>A, NM_016535.3:c.205G>C, XM_017026867.2:c.205G>A, XM_017026867.2:c.205G>C, XM_017026867.1:c.205G>A, XM_017026867.1:c.205G>C, NP_057619.1:p.Glu69Lys, NP_057619.1:p.Glu69Gln, XP_016882356.1:p.Glu69Lys, XP_016882356.1:p.Glu69Gln

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