SNP Links for Protein (Select 1034560549) - SNP

Select item 14900111281.

rs1490011128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:166849102 (GRCh38)
1:166818339 (GRCh37)
Canonical SPDI:: NC_000001.11:166849101:G:C
Gene:: POGK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.166849102G>C, NC_000001.10:g.166818339G>C, XM_005245370.5:c.523G>C, XM_005245370.4:c.523G>C, XM_005245370.3:c.523G>C, XM_005245370.2:c.523G>C, XM_005245370.1:c.523G>C, NM_017542.5:c.523G>C, NM_017542.4:c.523G>C, NM_017542.3:c.523G>C, XM_017001914.3:c.523G>C, XM_017001914.2:c.523G>C, XM_017001914.1:c.523G>C, XM_011509814.3:c.523G>C, XM_011509814.2:c.523G>C, XM_011509814.1:c.523G>C, XM_011509815.3:c.523G>C, XM_011509815.2:c.523G>C, XM_011509815.1:c.523G>C, XM_017001915.2:c.169G>C, XM_017001915.1:c.169G>C, NM_001314014.2:c.169G>C, NM_001314014.1:c.169G>C, XM_047426196.1:c.523G>C, XP_005245427.1:p.Gly175Arg, NP_060012.3:p.Gly175Arg, XP_016857403.1:p.Gly175Arg, XP_011508116.1:p.Gly175Arg, XP_011508117.1:p.Gly175Arg, XP_016857404.1:p.Gly57Arg, NP_001300943.1:p.Gly57Arg, XP_047282152.1:p.Gly175Arg

Select item 14897155652.

rs1489715565 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:166849192 (GRCh38)
1:166818429 (GRCh37)
Canonical SPDI:: NC_000001.11:166849191:A:G
Gene:: POGK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.166849192A>G, NC_000001.10:g.166818429A>G, XM_005245370.5:c.613A>G, XM_005245370.4:c.613A>G, XM_005245370.3:c.613A>G, XM_005245370.2:c.613A>G, XM_005245370.1:c.613A>G, NM_017542.5:c.613A>G, NM_017542.4:c.613A>G, NM_017542.3:c.613A>G, XM_017001914.3:c.613A>G, XM_017001914.2:c.613A>G, XM_017001914.1:c.613A>G, XM_011509814.3:c.613A>G, XM_011509814.2:c.613A>G, XM_011509814.1:c.613A>G, XM_011509815.3:c.613A>G, XM_011509815.2:c.613A>G, XM_011509815.1:c.613A>G, XM_017001915.2:c.259A>G, XM_017001915.1:c.259A>G, NM_001314014.2:c.259A>G, NM_001314014.1:c.259A>G, XM_047426196.1:c.613A>G, XP_005245427.1:p.Lys205Glu, NP_060012.3:p.Lys205Glu, XP_016857403.1:p.Lys205Glu, XP_011508116.1:p.Lys205Glu, XP_011508117.1:p.Lys205Glu, XP_016857404.1:p.Lys87Glu, NP_001300943.1:p.Lys87Glu, XP_047282152.1:p.Lys205Glu

Select item 14870487373.

rs1487048737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:166849096 (GRCh38)
1:166818333 (GRCh37)
Canonical SPDI:: NC_000001.11:166849095:G:T
Gene:: POGK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.166849096G>T, NC_000001.10:g.166818333G>T, XM_005245370.5:c.517G>T, XM_005245370.4:c.517G>T, XM_005245370.3:c.517G>T, XM_005245370.2:c.517G>T, XM_005245370.1:c.517G>T, NM_017542.5:c.517G>T, NM_017542.4:c.517G>T, NM_017542.3:c.517G>T, XM_017001914.3:c.517G>T, XM_017001914.2:c.517G>T, XM_017001914.1:c.517G>T, XM_011509814.3:c.517G>T, XM_011509814.2:c.517G>T, XM_011509814.1:c.517G>T, XM_011509815.3:c.517G>T, XM_011509815.2:c.517G>T, XM_011509815.1:c.517G>T, XM_017001915.2:c.163G>T, XM_017001915.1:c.163G>T, NM_001314014.2:c.163G>T, NM_001314014.1:c.163G>T, XM_047426196.1:c.517G>T, XP_005245427.1:p.Ala173Ser, NP_060012.3:p.Ala173Ser, XP_016857403.1:p.Ala173Ser, XP_011508116.1:p.Ala173Ser, XP_011508117.1:p.Ala173Ser, XP_016857404.1:p.Ala55Ser, NP_001300943.1:p.Ala55Ser, XP_047282152.1:p.Ala173Ser

Select item 14868301664.

rs1486830166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:166850037 (GRCh38)
1:166819274 (GRCh37)
Canonical SPDI:: NC_000001.11:166850036:A:T
Gene:: POGK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.166850037A>T, NC_000001.10:g.166819274A>T, XM_005245370.5:c.1458A>T, XM_005245370.4:c.1458A>T, XM_005245370.3:c.1458A>T, XM_005245370.2:c.1458A>T, XM_005245370.1:c.1458A>T, NM_017542.5:c.1458A>T, NM_017542.4:c.1458A>T, NM_017542.3:c.1458A>T, XM_017001914.3:c.1458A>T, XM_017001914.2:c.1458A>T, XM_017001914.1:c.1458A>T, XM_011509814.3:c.1458A>T, XM_011509814.2:c.1458A>T, XM_011509814.1:c.1458A>T, XM_011509815.3:c.1404A>T, XM_011509815.2:c.1404A>T, XM_011509815.1:c.1404A>T, XM_017001915.2:c.1104A>T, XM_017001915.1:c.1104A>T, NM_001314014.2:c.1104A>T, NM_001314014.1:c.1104A>T, XM_047426196.1:c.1458A>T, XP_005245427.1:p.Glu486Asp, NP_060012.3:p.Glu486Asp, XP_016857403.1:p.Glu486Asp, XP_011508116.1:p.Glu486Asp, XP_011508117.1:p.Glu468Asp, XP_016857404.1:p.Glu368Asp, NP_001300943.1:p.Glu368Asp, XP_047282152.1:p.Glu486Asp

Select item 14825736435.

rs1482573643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:166849572 (GRCh38)
1:166818809 (GRCh37)
Canonical SPDI:: NC_000001.11:166849571:G:A
Gene:: POGK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.166849572G>A, NC_000001.10:g.166818809G>A, XM_005245370.5:c.993G>A, XM_005245370.4:c.993G>A, XM_005245370.3:c.993G>A, XM_005245370.2:c.993G>A, XM_005245370.1:c.993G>A, NM_017542.5:c.993G>A, NM_017542.4:c.993G>A, NM_017542.3:c.993G>A, XM_017001914.3:c.993G>A, XM_017001914.2:c.993G>A, XM_017001914.1:c.993G>A, XM_011509814.3:c.993G>A, XM_011509814.2:c.993G>A, XM_011509814.1:c.993G>A, XM_011509815.3:c.993G>A, XM_011509815.2:c.993G>A, XM_011509815.1:c.993G>A, XM_017001915.2:c.639G>A, XM_017001915.1:c.639G>A, NM_001314014.2:c.639G>A, NM_001314014.1:c.639G>A, XM_047426196.1:c.993G>A

Select item 14823847676.

rs1482384767 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:166849914 (GRCh38)
1:166819151 (GRCh37)
Canonical SPDI:: NC_000001.11:166849913:G:A,NC_000001.11:166849913:G:C
Gene:: POGK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.166849914G>A, NC_000001.11:g.166849914G>C, NC_000001.10:g.166819151G>A, NC_000001.10:g.166819151G>C, XM_005245370.5:c.1335G>A, XM_005245370.5:c.1335G>C, XM_005245370.4:c.1335G>A, XM_005245370.4:c.1335G>C, XM_005245370.3:c.1335G>A, XM_005245370.3:c.1335G>C, XM_005245370.2:c.1335G>A, XM_005245370.2:c.1335G>C, XM_005245370.1:c.1335G>A, XM_005245370.1:c.1335G>C, NM_017542.5:c.1335G>A, NM_017542.5:c.1335G>C, NM_017542.4:c.1335G>A, NM_017542.4:c.1335G>C, NM_017542.3:c.1335G>A, NM_017542.3:c.1335G>C, XM_017001914.3:c.1335G>A, XM_017001914.3:c.1335G>C, XM_017001914.2:c.1335G>A, XM_017001914.2:c.1335G>C, XM_017001914.1:c.1335G>A, XM_017001914.1:c.1335G>C, XM_011509814.3:c.1335G>A, XM_011509814.3:c.1335G>C, XM_011509814.2:c.1335G>A, XM_011509814.2:c.1335G>C, XM_011509814.1:c.1335G>A, XM_011509814.1:c.1335G>C, XM_011509815.3:c.1281G>A, XM_011509815.3:c.1281G>C, XM_011509815.2:c.1281G>A, XM_011509815.2:c.1281G>C, XM_011509815.1:c.1281G>A, XM_011509815.1:c.1281G>C, XM_017001915.2:c.981G>A, XM_017001915.2:c.981G>C, XM_017001915.1:c.981G>A, XM_017001915.1:c.981G>C, NM_001314014.2:c.981G>A, NM_001314014.2:c.981G>C, NM_001314014.1:c.981G>A, NM_001314014.1:c.981G>C, XM_047426196.1:c.1335G>A, XM_047426196.1:c.1335G>C, XP_005245427.1:p.Leu445Phe, NP_060012.3:p.Leu445Phe, XP_016857403.1:p.Leu445Phe, XP_011508116.1:p.Leu445Phe, XP_011508117.1:p.Leu427Phe, XP_016857404.1:p.Leu327Phe, NP_001300943.1:p.Leu327Phe, XP_047282152.1:p.Leu445Phe

Select item 14781191097.

rs1478119109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:166849947 (GRCh38)
1:166819184 (GRCh37)
Canonical SPDI:: NC_000001.11:166849946:G:A
Gene:: POGK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.166849947G>A, NC_000001.10:g.166819184G>A, XM_005245370.5:c.1368G>A, XM_005245370.4:c.1368G>A, XM_005245370.3:c.1368G>A, XM_005245370.2:c.1368G>A, XM_005245370.1:c.1368G>A, NM_017542.5:c.1368G>A, NM_017542.4:c.1368G>A, NM_017542.3:c.1368G>A, XM_017001914.3:c.1368G>A, XM_017001914.2:c.1368G>A, XM_017001914.1:c.1368G>A, XM_011509814.3:c.1368G>A, XM_011509814.2:c.1368G>A, XM_011509814.1:c.1368G>A, XM_011509815.3:c.1314G>A, XM_011509815.2:c.1314G>A, XM_011509815.1:c.1314G>A, XM_017001915.2:c.1014G>A, XM_017001915.1:c.1014G>A, NM_001314014.2:c.1014G>A, NM_001314014.1:c.1014G>A, XM_047426196.1:c.1368G>A

Select item 14779714918.

rs1477971491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:166849111 (GRCh38)
1:166818348 (GRCh37)
Canonical SPDI:: NC_000001.11:166849110:G:C
Gene:: POGK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.166849111G>C, NC_000001.10:g.166818348G>C, XM_005245370.5:c.532G>C, XM_005245370.4:c.532G>C, XM_005245370.3:c.532G>C, XM_005245370.2:c.532G>C, XM_005245370.1:c.532G>C, NM_017542.5:c.532G>C, NM_017542.4:c.532G>C, NM_017542.3:c.532G>C, XM_017001914.3:c.532G>C, XM_017001914.2:c.532G>C, XM_017001914.1:c.532G>C, XM_011509814.3:c.532G>C, XM_011509814.2:c.532G>C, XM_011509814.1:c.532G>C, XM_011509815.3:c.532G>C, XM_011509815.2:c.532G>C, XM_011509815.1:c.532G>C, XM_017001915.2:c.178G>C, XM_017001915.1:c.178G>C, NM_001314014.2:c.178G>C, NM_001314014.1:c.178G>C, XM_047426196.1:c.532G>C, XP_005245427.1:p.Gly178Arg, NP_060012.3:p.Gly178Arg, XP_016857403.1:p.Gly178Arg, XP_011508116.1:p.Gly178Arg, XP_011508117.1:p.Gly178Arg, XP_016857404.1:p.Gly60Arg, NP_001300943.1:p.Gly60Arg, XP_047282152.1:p.Gly178Arg

Select item 14762478139.

rs1476247813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:166850323 (GRCh38)
1:166819560 (GRCh37)
Canonical SPDI:: NC_000001.11:166850322:G:A
Gene:: POGK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000102/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.166850323G>A, NC_000001.10:g.166819560G>A, XM_005245370.5:c.1744G>A, XM_005245370.4:c.1744G>A, XM_005245370.3:c.1744G>A, XM_005245370.2:c.1744G>A, XM_005245370.1:c.1744G>A, NM_017542.5:c.1744G>A, NM_017542.4:c.1744G>A, NM_017542.3:c.1744G>A, XM_017001914.3:c.1744G>A, XM_017001914.2:c.1744G>A, XM_017001914.1:c.1744G>A, XM_011509814.3:c.1744G>A, XM_011509814.2:c.1744G>A, XM_011509814.1:c.1744G>A, XM_011509815.3:c.1690G>A, XM_011509815.2:c.1690G>A, XM_011509815.1:c.1690G>A, XM_017001915.2:c.1390G>A, XM_017001915.1:c.1390G>A, NM_001314014.2:c.1390G>A, NM_001314014.1:c.1390G>A, XM_047426196.1:c.1744G>A, XP_005245427.1:p.Val582Ile, NP_060012.3:p.Val582Ile, XP_016857403.1:p.Val582Ile, XP_011508116.1:p.Val582Ile, XP_011508117.1:p.Val564Ile, XP_016857404.1:p.Val464Ile, NP_001300943.1:p.Val464Ile, XP_047282152.1:p.Val582Ile

Select item 147326296310.

rs1473262963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:166848969 (GRCh38)
1:166818206 (GRCh37)
Canonical SPDI:: NC_000001.11:166848968:C:T
Gene:: POGK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.166848969C>T, NC_000001.10:g.166818206C>T, XM_005245370.5:c.390C>T, XM_005245370.4:c.390C>T, XM_005245370.3:c.390C>T, XM_005245370.2:c.390C>T, XM_005245370.1:c.390C>T, NM_017542.5:c.390C>T, NM_017542.4:c.390C>T, NM_017542.3:c.390C>T, XM_017001914.3:c.390C>T, XM_017001914.2:c.390C>T, XM_017001914.1:c.390C>T, XM_011509814.3:c.390C>T, XM_011509814.2:c.390C>T, XM_011509814.1:c.390C>T, XM_011509815.3:c.390C>T, XM_011509815.2:c.390C>T, XM_011509815.1:c.390C>T, XM_017001915.2:c.36C>T, XM_017001915.1:c.36C>T, NM_001314014.2:c.36C>T, NM_001314014.1:c.36C>T, XM_047426196.1:c.390C>T

Select item 147316358211.

rs1473163582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:166849024 (GRCh38)
1:166818261 (GRCh37)
Canonical SPDI:: NC_000001.11:166849023:A:G
Gene:: POGK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.166849024A>G, NC_000001.10:g.166818261A>G, XM_005245370.5:c.445A>G, XM_005245370.4:c.445A>G, XM_005245370.3:c.445A>G, XM_005245370.2:c.445A>G, XM_005245370.1:c.445A>G, NM_017542.5:c.445A>G, NM_017542.4:c.445A>G, NM_017542.3:c.445A>G, XM_017001914.3:c.445A>G, XM_017001914.2:c.445A>G, XM_017001914.1:c.445A>G, XM_011509814.3:c.445A>G, XM_011509814.2:c.445A>G, XM_011509814.1:c.445A>G, XM_011509815.3:c.445A>G, XM_011509815.2:c.445A>G, XM_011509815.1:c.445A>G, XM_017001915.2:c.91A>G, XM_017001915.1:c.91A>G, NM_001314014.2:c.91A>G, NM_001314014.1:c.91A>G, XM_047426196.1:c.445A>G, XP_005245427.1:p.Ser149Gly, NP_060012.3:p.Ser149Gly, XP_016857403.1:p.Ser149Gly, XP_011508116.1:p.Ser149Gly, XP_011508117.1:p.Ser149Gly, XP_016857404.1:p.Ser31Gly, NP_001300943.1:p.Ser31Gly, XP_047282152.1:p.Ser149Gly

Select item 146863142912.

rs1468631429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:166849296 (GRCh38)
1:166818533 (GRCh37)
Canonical SPDI:: NC_000001.11:166849295:A:G
Gene:: POGK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.166849296A>G, NC_000001.10:g.166818533A>G, XM_005245370.5:c.717A>G, XM_005245370.4:c.717A>G, XM_005245370.3:c.717A>G, XM_005245370.2:c.717A>G, XM_005245370.1:c.717A>G, NM_017542.5:c.717A>G, NM_017542.4:c.717A>G, NM_017542.3:c.717A>G, XM_017001914.3:c.717A>G, XM_017001914.2:c.717A>G, XM_017001914.1:c.717A>G, XM_011509814.3:c.717A>G, XM_011509814.2:c.717A>G, XM_011509814.1:c.717A>G, XM_011509815.3:c.717A>G, XM_011509815.2:c.717A>G, XM_011509815.1:c.717A>G, XM_017001915.2:c.363A>G, XM_017001915.1:c.363A>G, NM_001314014.2:c.363A>G, NM_001314014.1:c.363A>G, XM_047426196.1:c.717A>G

Select item 145988380313.

rs1459883803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:166849818 (GRCh38)
1:166819055 (GRCh37)
Canonical SPDI:: NC_000001.11:166849817:G:A
Gene:: POGK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000034/9 (TOPMED)
A=0.000036/5 (GnomAD)
A=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.166849818G>A, NC_000001.10:g.166819055G>A, XM_005245370.5:c.1239G>A, XM_005245370.4:c.1239G>A, XM_005245370.3:c.1239G>A, XM_005245370.2:c.1239G>A, XM_005245370.1:c.1239G>A, NM_017542.5:c.1239G>A, NM_017542.4:c.1239G>A, NM_017542.3:c.1239G>A, XM_017001914.3:c.1239G>A, XM_017001914.2:c.1239G>A, XM_017001914.1:c.1239G>A, XM_011509814.3:c.1239G>A, XM_011509814.2:c.1239G>A, XM_011509814.1:c.1239G>A, XM_011509815.3:c.1185G>A, XM_011509815.2:c.1185G>A, XM_011509815.1:c.1185G>A, XM_017001915.2:c.885G>A, XM_017001915.1:c.885G>A, NM_001314014.2:c.885G>A, NM_001314014.1:c.885G>A, XM_047426196.1:c.1239G>A

Select item 145727254214.

rs1457272542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:166849981 (GRCh38)
1:166819218 (GRCh37)
Canonical SPDI:: NC_000001.11:166849980:C:A
Gene:: POGK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.166849981C>A, NC_000001.10:g.166819218C>A, XM_005245370.5:c.1402C>A, XM_005245370.4:c.1402C>A, XM_005245370.3:c.1402C>A, XM_005245370.2:c.1402C>A, XM_005245370.1:c.1402C>A, NM_017542.5:c.1402C>A, NM_017542.4:c.1402C>A, NM_017542.3:c.1402C>A, XM_017001914.3:c.1402C>A, XM_017001914.2:c.1402C>A, XM_017001914.1:c.1402C>A, XM_011509814.3:c.1402C>A, XM_011509814.2:c.1402C>A, XM_011509814.1:c.1402C>A, XM_011509815.3:c.1348C>A, XM_011509815.2:c.1348C>A, XM_011509815.1:c.1348C>A, XM_017001915.2:c.1048C>A, XM_017001915.1:c.1048C>A, NM_001314014.2:c.1048C>A, NM_001314014.1:c.1048C>A, XM_047426196.1:c.1402C>A, XP_005245427.1:p.Leu468Met, NP_060012.3:p.Leu468Met, XP_016857403.1:p.Leu468Met, XP_011508116.1:p.Leu468Met, XP_011508117.1:p.Leu450Met, XP_016857404.1:p.Leu350Met, NP_001300943.1:p.Leu350Met, XP_047282152.1:p.Leu468Met

Select item 145672157515.

rs1456721575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:166849690 (GRCh38)
1:166818927 (GRCh37)
Canonical SPDI:: NC_000001.11:166849689:G:C
Gene:: POGK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.166849690G>C, NC_000001.10:g.166818927G>C, XM_005245370.5:c.1111G>C, XM_005245370.4:c.1111G>C, XM_005245370.3:c.1111G>C, XM_005245370.2:c.1111G>C, XM_005245370.1:c.1111G>C, NM_017542.5:c.1111G>C, NM_017542.4:c.1111G>C, NM_017542.3:c.1111G>C, XM_017001914.3:c.1111G>C, XM_017001914.2:c.1111G>C, XM_017001914.1:c.1111G>C, XM_011509814.3:c.1111G>C, XM_011509814.2:c.1111G>C, XM_011509814.1:c.1111G>C, XM_011509815.3:c.1111G>C, XM_011509815.2:c.1111G>C, XM_011509815.1:c.1111G>C, XM_017001915.2:c.757G>C, XM_017001915.1:c.757G>C, NM_001314014.2:c.757G>C, NM_001314014.1:c.757G>C, XM_047426196.1:c.1111G>C, XP_005245427.1:p.Glu371Gln, NP_060012.3:p.Glu371Gln, XP_016857403.1:p.Glu371Gln, XP_011508116.1:p.Glu371Gln, XP_011508117.1:p.Glu371Gln, XP_016857404.1:p.Glu253Gln, NP_001300943.1:p.Glu253Gln, XP_047282152.1:p.Glu371Gln

Select item 145150895516.

rs1451508955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:166850259 (GRCh38)
1:166819496 (GRCh37)
Canonical SPDI:: NC_000001.11:166850258:T:C
Gene:: POGK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.166850259T>C, NC_000001.10:g.166819496T>C, XM_005245370.5:c.1680T>C, XM_005245370.4:c.1680T>C, XM_005245370.3:c.1680T>C, XM_005245370.2:c.1680T>C, XM_005245370.1:c.1680T>C, NM_017542.5:c.1680T>C, NM_017542.4:c.1680T>C, NM_017542.3:c.1680T>C, XM_017001914.3:c.1680T>C, XM_017001914.2:c.1680T>C, XM_017001914.1:c.1680T>C, XM_011509814.3:c.1680T>C, XM_011509814.2:c.1680T>C, XM_011509814.1:c.1680T>C, XM_011509815.3:c.1626T>C, XM_011509815.2:c.1626T>C, XM_011509815.1:c.1626T>C, XM_017001915.2:c.1326T>C, XM_017001915.1:c.1326T>C, NM_001314014.2:c.1326T>C, NM_001314014.1:c.1326T>C, XM_047426196.1:c.1680T>C

Select item 145128959517.

rs1451289595 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:166848942 (GRCh38)
1:166818179 (GRCh37)
Canonical SPDI:: NC_000001.11:166848941:T:C
Gene:: POGK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.166848942T>C, NC_000001.10:g.166818179T>C, XM_005245370.5:c.363T>C, XM_005245370.4:c.363T>C, XM_005245370.3:c.363T>C, XM_005245370.2:c.363T>C, XM_005245370.1:c.363T>C, NM_017542.5:c.363T>C, NM_017542.4:c.363T>C, NM_017542.3:c.363T>C, XM_017001914.3:c.363T>C, XM_017001914.2:c.363T>C, XM_017001914.1:c.363T>C, XM_011509814.3:c.363T>C, XM_011509814.2:c.363T>C, XM_011509814.1:c.363T>C, XM_011509815.3:c.363T>C, XM_011509815.2:c.363T>C, XM_011509815.1:c.363T>C, XM_017001915.2:c.9T>C, XM_017001915.1:c.9T>C, NM_001314014.2:c.9T>C, NM_001314014.1:c.9T>C, XM_047426196.1:c.363T>C

Select item 144726400618.

rs1447264006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:166850190 (GRCh38)
1:166819427 (GRCh37)
Canonical SPDI:: NC_000001.11:166850189:G:A,NC_000001.11:166850189:G:T
Gene:: POGK (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=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.166850190G>A, NC_000001.11:g.166850190G>T, NC_000001.10:g.166819427G>A, NC_000001.10:g.166819427G>T, XM_005245370.5:c.1611G>A, XM_005245370.5:c.1611G>T, XM_005245370.4:c.1611G>A, XM_005245370.4:c.1611G>T, XM_005245370.3:c.1611G>A, XM_005245370.3:c.1611G>T, XM_005245370.2:c.1611G>A, XM_005245370.2:c.1611G>T, XM_005245370.1:c.1611G>A, XM_005245370.1:c.1611G>T, NM_017542.5:c.1611G>A, NM_017542.5:c.1611G>T, NM_017542.4:c.1611G>A, NM_017542.4:c.1611G>T, NM_017542.3:c.1611G>A, NM_017542.3:c.1611G>T, XM_017001914.3:c.1611G>A, XM_017001914.3:c.1611G>T, XM_017001914.2:c.1611G>A, XM_017001914.2:c.1611G>T, XM_017001914.1:c.1611G>A, XM_017001914.1:c.1611G>T, XM_011509814.3:c.1611G>A, XM_011509814.3:c.1611G>T, XM_011509814.2:c.1611G>A, XM_011509814.2:c.1611G>T, XM_011509814.1:c.1611G>A, XM_011509814.1:c.1611G>T, XM_011509815.3:c.1557G>A, XM_011509815.3:c.1557G>T, XM_011509815.2:c.1557G>A, XM_011509815.2:c.1557G>T, XM_011509815.1:c.1557G>A, XM_011509815.1:c.1557G>T, XM_017001915.2:c.1257G>A, XM_017001915.2:c.1257G>T, XM_017001915.1:c.1257G>A, XM_017001915.1:c.1257G>T, NM_001314014.2:c.1257G>A, NM_001314014.2:c.1257G>T, NM_001314014.1:c.1257G>A, NM_001314014.1:c.1257G>T, XM_047426196.1:c.1611G>A, XM_047426196.1:c.1611G>T

Select item 144711647219.

rs1447116472 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:166850368 (GRCh38)
1:166819605 (GRCh37)
Canonical SPDI:: NC_000001.11:166850367:CC:C
Gene:: POGK (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.166850369del, NC_000001.10:g.166819606del, XM_005245370.5:c.1790del, XM_005245370.4:c.1790del, XM_005245370.3:c.1790del, XM_005245370.2:c.1790del, XM_005245370.1:c.1790del, NM_017542.5:c.1790del, NM_017542.4:c.1790del, NM_017542.3:c.1790del, XM_017001914.3:c.1790del, XM_017001914.2:c.1790del, XM_017001914.1:c.1790del, XM_011509814.3:c.1790del, XM_011509814.2:c.1790del, XM_011509814.1:c.1790del, XM_011509815.3:c.1736del, XM_011509815.2:c.1736del, XM_011509815.1:c.1736del, XM_017001915.2:c.1436del, XM_017001915.1:c.1436del, NM_001314014.2:c.1436del, NM_001314014.1:c.1436del, XM_047426196.1:c.1790del, XP_005245427.1:p.Pro597fs, NP_060012.3:p.Pro597fs, XP_016857403.1:p.Pro597fs, XP_011508116.1:p.Pro597fs, XP_011508117.1:p.Pro579fs, XP_016857404.1:p.Pro479fs, NP_001300943.1:p.Pro479fs, XP_047282152.1:p.Pro597fs

Select item 143766755720.

rs1437667557 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:166850282 (GRCh38)
1:166819519 (GRCh37)
Canonical SPDI:: NC_000001.11:166850281:A:G
Gene:: POGK (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)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.166850282A>G, NC_000001.10:g.166819519A>G, XM_005245370.5:c.1703A>G, XM_005245370.4:c.1703A>G, XM_005245370.3:c.1703A>G, XM_005245370.2:c.1703A>G, XM_005245370.1:c.1703A>G, NM_017542.5:c.1703A>G, NM_017542.4:c.1703A>G, NM_017542.3:c.1703A>G, XM_017001914.3:c.1703A>G, XM_017001914.2:c.1703A>G, XM_017001914.1:c.1703A>G, XM_011509814.3:c.1703A>G, XM_011509814.2:c.1703A>G, XM_011509814.1:c.1703A>G, XM_011509815.3:c.1649A>G, XM_011509815.2:c.1649A>G, XM_011509815.1:c.1649A>G, XM_017001915.2:c.1349A>G, XM_017001915.1:c.1349A>G, NM_001314014.2:c.1349A>G, NM_001314014.1:c.1349A>G, XM_047426196.1:c.1703A>G, XP_005245427.1:p.Lys568Arg, NP_060012.3:p.Lys568Arg, XP_016857403.1:p.Lys568Arg, XP_011508116.1:p.Lys568Arg, XP_011508117.1:p.Lys550Arg, XP_016857404.1:p.Lys450Arg, NP_001300943.1:p.Lys450Arg, XP_047282152.1:p.Lys568Arg

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Result Filters

Clinical Significance

Validation Status

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Global MAF

Custom range

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Items: 1 to 20 of 349

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