SNP Links for Protein (Select 157167158) - SNP

Links from Protein

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Select item 14895013231.

rs1489501323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:52554709 (GRCh38)
19:53057962 (GRCh37)
Canonical SPDI:: NC_000019.10:52554708:A:G
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52554709A>G, NC_000019.9:g.53057962A>G, XM_005258909.5:c.1586A>G, XM_005258909.4:c.1586A>G, XM_005258909.3:c.1586A>G, XM_005258909.2:c.1586A>G, XM_005258909.1:c.1586A>G, NM_001039886.4:c.1793A>G, NM_001039886.3:c.1793A>G, XR_002958314.2:n.1958A>G, XR_002958314.1:n.1936A>G, NM_001321424.2:c.1793A>G, NM_001321424.1:c.1793A>G, XM_024451506.2:c.1793A>G, XM_024451506.1:c.1793A>G, NM_001321425.2:c.1793A>G, NM_001321425.1:c.1793A>G, XM_024451507.2:c.1793A>G, XM_024451507.1:c.1793A>G, NM_001363550.2:c.1586A>G, NM_001363550.1:c.1586A>G, XM_047438802.1:c.1793A>G, XP_005258966.1:p.Glu529Gly, NP_001034975.2:p.Glu598Gly, NP_001308353.1:p.Glu598Gly, XP_024307274.1:p.Glu598Gly, NP_001308354.1:p.Glu598Gly, XP_024307275.1:p.Glu598Gly, NP_001350479.1:p.Glu529Gly, XP_047294758.1:p.Glu598Gly

Select item 14886446532.

rs1488644653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:52554511 (GRCh38)
19:53057764 (GRCh37)
Canonical SPDI:: NC_000019.10:52554510:T:G
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.52554511T>G, NC_000019.9:g.53057764T>G, XM_005258909.5:c.1388T>G, XM_005258909.4:c.1388T>G, XM_005258909.3:c.1388T>G, XM_005258909.2:c.1388T>G, XM_005258909.1:c.1388T>G, NM_001039886.4:c.1595T>G, NM_001039886.3:c.1595T>G, XR_002958314.2:n.1760T>G, XR_002958314.1:n.1738T>G, NM_001321424.2:c.1595T>G, NM_001321424.1:c.1595T>G, XM_024451506.2:c.1595T>G, XM_024451506.1:c.1595T>G, NM_001321425.2:c.1595T>G, NM_001321425.1:c.1595T>G, XM_024451507.2:c.1595T>G, XM_024451507.1:c.1595T>G, NM_001363550.2:c.1388T>G, NM_001363550.1:c.1388T>G, XM_047438802.1:c.1595T>G, XP_005258966.1:p.Leu463Arg, NP_001034975.2:p.Leu532Arg, NP_001308353.1:p.Leu532Arg, XP_024307274.1:p.Leu532Arg, NP_001308354.1:p.Leu532Arg, XP_024307275.1:p.Leu532Arg, NP_001350479.1:p.Leu463Arg, XP_047294758.1:p.Leu532Arg

Select item 14884154673.

rs1488415467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:52547604 (GRCh38)
19:53050857 (GRCh37)
Canonical SPDI:: NC_000019.10:52547603:G:A
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.52547604G>A, NC_000019.9:g.53050857G>A, NM_001039886.4:c.156G>A, NM_001039886.3:c.156G>A, XR_002958314.2:n.321G>A, XR_002958314.1:n.299G>A, NM_001321424.2:c.156G>A, NM_001321424.1:c.156G>A, XM_024451506.2:c.156G>A, XM_024451506.1:c.156G>A, NM_001321425.2:c.156G>A, NM_001321425.1:c.156G>A, XM_024451507.2:c.156G>A, XM_024451507.1:c.156G>A, XM_047438802.1:c.156G>A

Select item 14867357484.

rs1486735748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:52554303 (GRCh38)
19:53057556 (GRCh37)
Canonical SPDI:: NC_000019.10:52554302:G:A,NC_000019.10:52554302:G:C
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_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=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52554303G>A, NC_000019.10:g.52554303G>C, NC_000019.9:g.53057556G>A, NC_000019.9:g.53057556G>C, XM_005258909.5:c.1180G>A, XM_005258909.5:c.1180G>C, XM_005258909.4:c.1180G>A, XM_005258909.4:c.1180G>C, XM_005258909.3:c.1180G>A, XM_005258909.3:c.1180G>C, XM_005258909.2:c.1180G>A, XM_005258909.2:c.1180G>C, XM_005258909.1:c.1180G>A, XM_005258909.1:c.1180G>C, NM_001039886.4:c.1387G>A, NM_001039886.4:c.1387G>C, NM_001039886.3:c.1387G>A, NM_001039886.3:c.1387G>C, XR_002958314.2:n.1552G>A, XR_002958314.2:n.1552G>C, XR_002958314.1:n.1530G>A, XR_002958314.1:n.1530G>C, NM_001321424.2:c.1387G>A, NM_001321424.2:c.1387G>C, NM_001321424.1:c.1387G>A, NM_001321424.1:c.1387G>C, XM_024451506.2:c.1387G>A, XM_024451506.2:c.1387G>C, XM_024451506.1:c.1387G>A, XM_024451506.1:c.1387G>C, NM_001321425.2:c.1387G>A, NM_001321425.2:c.1387G>C, NM_001321425.1:c.1387G>A, NM_001321425.1:c.1387G>C, XM_024451507.2:c.1387G>A, XM_024451507.2:c.1387G>C, XM_024451507.1:c.1387G>A, XM_024451507.1:c.1387G>C, NM_001363550.2:c.1180G>A, NM_001363550.2:c.1180G>C, NM_001363550.1:c.1180G>A, NM_001363550.1:c.1180G>C, XM_047438802.1:c.1387G>A, XM_047438802.1:c.1387G>C, XP_005258966.1:p.Ala394Thr, XP_005258966.1:p.Ala394Pro, NP_001034975.2:p.Ala463Thr, NP_001034975.2:p.Ala463Pro, NP_001308353.1:p.Ala463Thr, NP_001308353.1:p.Ala463Pro, XP_024307274.1:p.Ala463Thr, XP_024307274.1:p.Ala463Pro, NP_001308354.1:p.Ala463Thr, NP_001308354.1:p.Ala463Pro, XP_024307275.1:p.Ala463Thr, XP_024307275.1:p.Ala463Pro, NP_001350479.1:p.Ala394Thr, NP_001350479.1:p.Ala394Pro, XP_047294758.1:p.Ala463Thr, XP_047294758.1:p.Ala463Pro

Select item 14860602525.

rs1486060252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:52553613 (GRCh38)
19:53056866 (GRCh37)
Canonical SPDI:: NC_000019.10:52553612:T:C
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52553613T>C, NC_000019.9:g.53056866T>C, XM_005258909.5:c.490T>C, XM_005258909.4:c.490T>C, XM_005258909.3:c.490T>C, XM_005258909.2:c.490T>C, XM_005258909.1:c.490T>C, NM_001039886.4:c.697T>C, NM_001039886.3:c.697T>C, XR_002958314.2:n.862T>C, XR_002958314.1:n.840T>C, NM_001321424.2:c.697T>C, NM_001321424.1:c.697T>C, XM_024451506.2:c.697T>C, XM_024451506.1:c.697T>C, NM_001321425.2:c.697T>C, NM_001321425.1:c.697T>C, XM_024451507.2:c.697T>C, XM_024451507.1:c.697T>C, NM_001363550.2:c.490T>C, NM_001363550.1:c.490T>C, XM_047438802.1:c.697T>C, XP_005258966.1:p.Cys164Arg, NP_001034975.2:p.Cys233Arg, NP_001308353.1:p.Cys233Arg, XP_024307274.1:p.Cys233Arg, NP_001308354.1:p.Cys233Arg, XP_024307275.1:p.Cys233Arg, NP_001350479.1:p.Cys164Arg, XP_047294758.1:p.Cys233Arg

Select item 14858747356.

rs1485874735 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 19:52553606 (GRCh38)
19:53056859 (GRCh37)
Canonical SPDI:: NC_000019.10:52553605:TTT:TT
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000019.10:g.52553608del, NC_000019.9:g.53056861del, XM_005258909.5:c.485del, XM_005258909.4:c.485del, XM_005258909.3:c.485del, XM_005258909.2:c.485del, XM_005258909.1:c.485del, NM_001039886.4:c.692del, NM_001039886.3:c.692del, XR_002958314.2:n.857del, XR_002958314.1:n.835del, NM_001321424.2:c.692del, NM_001321424.1:c.692del, XM_024451506.2:c.692del, XM_024451506.1:c.692del, NM_001321425.2:c.692del, NM_001321425.1:c.692del, XM_024451507.2:c.692del, XM_024451507.1:c.692del, NM_001363550.2:c.485del, NM_001363550.1:c.485del, XM_047438802.1:c.692del, XP_005258966.1:p.Phe162fs, NP_001034975.2:p.Phe231fs, NP_001308353.1:p.Phe231fs, XP_024307274.1:p.Phe231fs, NP_001308354.1:p.Phe231fs, XP_024307275.1:p.Phe231fs, NP_001350479.1:p.Phe162fs, XP_047294758.1:p.Phe231fs

Select item 14856070457.

rs1485607045 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:52554657 (GRCh38)
19:53057910 (GRCh37)
Canonical SPDI:: NC_000019.10:52554654:CACA:CA
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.52554655CA[1], NC_000019.9:g.53057908CA[1], XM_005258909.5:c.1534_1535del, XM_005258909.4:c.1534_1535del, XM_005258909.3:c.1534_1535del, XM_005258909.2:c.1534_1535del, XM_005258909.1:c.1534_1535del, NM_001039886.4:c.1741_1742del, NM_001039886.3:c.1741_1742del, XR_002958314.2:n.1904CA[1], XR_002958314.1:n.1882CA[1], NM_001321424.2:c.1741_1742del, NM_001321424.1:c.1741_1742del, XM_024451506.2:c.1741_1742del, XM_024451506.1:c.1741_1742del, NM_001321425.2:c.1741_1742del, NM_001321425.1:c.1741_1742del, XM_024451507.2:c.1741_1742del, XM_024451507.1:c.1741_1742del, NM_001363550.2:c.1534_1535del, NM_001363550.1:c.1534_1535del, XM_047438802.1:c.1741_1742del, XP_005258966.1:p.His512fs, NP_001034975.2:p.His581fs, NP_001308353.1:p.His581fs, XP_024307274.1:p.His581fs, NP_001308354.1:p.His581fs, XP_024307275.1:p.His581fs, NP_001350479.1:p.His512fs, XP_047294758.1:p.His581fs

Select item 14839593768.

rs1483959376 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:52554786 (GRCh38)
19:53058039 (GRCh37)
Canonical SPDI:: NC_000019.10:52554785:A:
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.52554786del, NC_000019.9:g.53058039del, XM_005258909.5:c.1663del, XM_005258909.4:c.1663del, XM_005258909.3:c.1663del, XM_005258909.2:c.1663del, XM_005258909.1:c.1663del, NM_001039886.4:c.1870del, NM_001039886.3:c.1870del, XR_002958314.2:n.2035del, XR_002958314.1:n.2013del, NM_001321424.2:c.1870del, NM_001321424.1:c.1870del, XM_024451506.2:c.1870del, XM_024451506.1:c.1870del, NM_001321425.2:c.1870del, NM_001321425.1:c.1870del, XM_024451507.2:c.1870del, XM_024451507.1:c.1870del, NM_001363550.2:c.1663del, NM_001363550.1:c.1663del, XM_047438802.1:c.1870del, XP_005258966.1:p.Arg555fs, NP_001034975.2:p.Arg624fs, NP_001308353.1:p.Arg624fs, XP_024307274.1:p.Arg624fs, NP_001308354.1:p.Arg624fs, XP_024307275.1:p.Arg624fs, NP_001350479.1:p.Arg555fs, XP_047294758.1:p.Arg624fs

Select item 14828802359.

rs1482880235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:52554136 (GRCh38)
19:53057389 (GRCh37)
Canonical SPDI:: NC_000019.10:52554135:C:G
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.52554136C>G, NC_000019.9:g.53057389C>G, XM_005258909.5:c.1013C>G, XM_005258909.4:c.1013C>G, XM_005258909.3:c.1013C>G, XM_005258909.2:c.1013C>G, XM_005258909.1:c.1013C>G, NM_001039886.4:c.1220C>G, NM_001039886.3:c.1220C>G, XR_002958314.2:n.1385C>G, XR_002958314.1:n.1363C>G, NM_001321424.2:c.1220C>G, NM_001321424.1:c.1220C>G, XM_024451506.2:c.1220C>G, XM_024451506.1:c.1220C>G, NM_001321425.2:c.1220C>G, NM_001321425.1:c.1220C>G, XM_024451507.2:c.1220C>G, XM_024451507.1:c.1220C>G, NM_001363550.2:c.1013C>G, NM_001363550.1:c.1013C>G, XM_047438802.1:c.1220C>G, XP_005258966.1:p.Ala338Gly, NP_001034975.2:p.Ala407Gly, NP_001308353.1:p.Ala407Gly, XP_024307274.1:p.Ala407Gly, NP_001308354.1:p.Ala407Gly, XP_024307275.1:p.Ala407Gly, NP_001350479.1:p.Ala338Gly, XP_047294758.1:p.Ala407Gly

Select item 148219337810.

rs1482193378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:52554433 (GRCh38)
19:53057686 (GRCh37)
Canonical SPDI:: NC_000019.10:52554432:G:C
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.52554433G>C, NC_000019.9:g.53057686G>C, XM_005258909.5:c.1310G>C, XM_005258909.4:c.1310G>C, XM_005258909.3:c.1310G>C, XM_005258909.2:c.1310G>C, XM_005258909.1:c.1310G>C, NM_001039886.4:c.1517G>C, NM_001039886.3:c.1517G>C, XR_002958314.2:n.1682G>C, XR_002958314.1:n.1660G>C, NM_001321424.2:c.1517G>C, NM_001321424.1:c.1517G>C, XM_024451506.2:c.1517G>C, XM_024451506.1:c.1517G>C, NM_001321425.2:c.1517G>C, NM_001321425.1:c.1517G>C, XM_024451507.2:c.1517G>C, XM_024451507.1:c.1517G>C, NM_001363550.2:c.1310G>C, NM_001363550.1:c.1310G>C, XM_047438802.1:c.1517G>C, XP_005258966.1:p.Ser437Thr, NP_001034975.2:p.Ser506Thr, NP_001308353.1:p.Ser506Thr, XP_024307274.1:p.Ser506Thr, NP_001308354.1:p.Ser506Thr, XP_024307275.1:p.Ser506Thr, NP_001350479.1:p.Ser437Thr, XP_047294758.1:p.Ser506Thr

Select item 148072776811.

rs1480727768 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:52554451 (GRCh38)
19:53057704 (GRCh37)
Canonical SPDI:: NC_000019.10:52554450:A:C,NC_000019.10:52554450:A:G
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.52554451A>C, NC_000019.10:g.52554451A>G, NC_000019.9:g.53057704A>C, NC_000019.9:g.53057704A>G, XM_005258909.5:c.1328A>C, XM_005258909.5:c.1328A>G, XM_005258909.4:c.1328A>C, XM_005258909.4:c.1328A>G, XM_005258909.3:c.1328A>C, XM_005258909.3:c.1328A>G, XM_005258909.2:c.1328A>C, XM_005258909.2:c.1328A>G, XM_005258909.1:c.1328A>C, XM_005258909.1:c.1328A>G, NM_001039886.4:c.1535A>C, NM_001039886.4:c.1535A>G, NM_001039886.3:c.1535A>C, NM_001039886.3:c.1535A>G, XR_002958314.2:n.1700A>C, XR_002958314.2:n.1700A>G, XR_002958314.1:n.1678A>C, XR_002958314.1:n.1678A>G, NM_001321424.2:c.1535A>C, NM_001321424.2:c.1535A>G, NM_001321424.1:c.1535A>C, NM_001321424.1:c.1535A>G, XM_024451506.2:c.1535A>C, XM_024451506.2:c.1535A>G, XM_024451506.1:c.1535A>C, XM_024451506.1:c.1535A>G, NM_001321425.2:c.1535A>C, NM_001321425.2:c.1535A>G, NM_001321425.1:c.1535A>C, NM_001321425.1:c.1535A>G, XM_024451507.2:c.1535A>C, XM_024451507.2:c.1535A>G, XM_024451507.1:c.1535A>C, XM_024451507.1:c.1535A>G, NM_001363550.2:c.1328A>C, NM_001363550.2:c.1328A>G, NM_001363550.1:c.1328A>C, NM_001363550.1:c.1328A>G, XM_047438802.1:c.1535A>C, XM_047438802.1:c.1535A>G, XP_005258966.1:p.Lys443Thr, XP_005258966.1:p.Lys443Arg, NP_001034975.2:p.Lys512Thr, NP_001034975.2:p.Lys512Arg, NP_001308353.1:p.Lys512Thr, NP_001308353.1:p.Lys512Arg, XP_024307274.1:p.Lys512Thr, XP_024307274.1:p.Lys512Arg, NP_001308354.1:p.Lys512Thr, NP_001308354.1:p.Lys512Arg, XP_024307275.1:p.Lys512Thr, XP_024307275.1:p.Lys512Arg, NP_001350479.1:p.Lys443Thr, NP_001350479.1:p.Lys443Arg, XP_047294758.1:p.Lys512Thr, XP_047294758.1:p.Lys512Arg

Select item 147986381512.

rs1479863815 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:52543307 (GRCh38)
19:53046560 (GRCh37)
Canonical SPDI:: NC_000019.10:52543306:A:G
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.52543307A>G, NC_000019.9:g.53046560A>G, XM_005258909.5:c.-58A>G, XM_005258909.4:c.-58A>G, XM_005258909.3:c.-58A>G, XM_005258909.2:c.-58A>G, XM_005258909.1:c.-58A>G, NM_001039886.4:c.23A>G, NM_001039886.3:c.23A>G, XR_002958314.2:n.188A>G, XR_002958314.1:n.166A>G, NM_001321424.2:c.23A>G, NM_001321424.1:c.23A>G, XM_024451506.2:c.23A>G, XM_024451506.1:c.23A>G, NM_001321425.2:c.23A>G, NM_001321425.1:c.23A>G, XM_024451507.2:c.23A>G, XM_024451507.1:c.23A>G, NM_001363550.2:c.-58A>G, NM_001363550.1:c.-58A>G, XM_047438802.1:c.23A>G, NP_001034975.2:p.Gln8Arg, NP_001308353.1:p.Gln8Arg, XP_024307274.1:p.Gln8Arg, NP_001308354.1:p.Gln8Arg, XP_024307275.1:p.Gln8Arg, XP_047294758.1:p.Gln8Arg

Select item 147932861013.

rs1479328610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:52554659 (GRCh38)
19:53057912 (GRCh37)
Canonical SPDI:: NC_000019.10:52554658:T:C,NC_000019.10:52554658:T:G
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52554659T>C, NC_000019.10:g.52554659T>G, NC_000019.9:g.53057912T>C, NC_000019.9:g.53057912T>G, XM_005258909.5:c.1536T>C, XM_005258909.5:c.1536T>G, XM_005258909.4:c.1536T>C, XM_005258909.4:c.1536T>G, XM_005258909.3:c.1536T>C, XM_005258909.3:c.1536T>G, XM_005258909.2:c.1536T>C, XM_005258909.2:c.1536T>G, XM_005258909.1:c.1536T>C, XM_005258909.1:c.1536T>G, NM_001039886.4:c.1743T>C, NM_001039886.4:c.1743T>G, NM_001039886.3:c.1743T>C, NM_001039886.3:c.1743T>G, XR_002958314.2:n.1908T>C, XR_002958314.2:n.1908T>G, XR_002958314.1:n.1886T>C, XR_002958314.1:n.1886T>G, NM_001321424.2:c.1743T>C, NM_001321424.2:c.1743T>G, NM_001321424.1:c.1743T>C, NM_001321424.1:c.1743T>G, XM_024451506.2:c.1743T>C, XM_024451506.2:c.1743T>G, XM_024451506.1:c.1743T>C, XM_024451506.1:c.1743T>G, NM_001321425.2:c.1743T>C, NM_001321425.2:c.1743T>G, NM_001321425.1:c.1743T>C, NM_001321425.1:c.1743T>G, XM_024451507.2:c.1743T>C, XM_024451507.2:c.1743T>G, XM_024451507.1:c.1743T>C, XM_024451507.1:c.1743T>G, NM_001363550.2:c.1536T>C, NM_001363550.2:c.1536T>G, NM_001363550.1:c.1536T>C, NM_001363550.1:c.1536T>G, XM_047438802.1:c.1743T>C, XM_047438802.1:c.1743T>G, XP_005258966.1:p.His512Gln, NP_001034975.2:p.His581Gln, NP_001308353.1:p.His581Gln, XP_024307274.1:p.His581Gln, NP_001308354.1:p.His581Gln, XP_024307275.1:p.His581Gln, NP_001350479.1:p.His512Gln, XP_047294758.1:p.His581Gln

Select item 147591863814.

rs1475918638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:52553183 (GRCh38)
19:53056436 (GRCh37)
Canonical SPDI:: NC_000019.10:52553182:A:G
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52553183A>G, NC_000019.9:g.53056436A>G, XM_005258909.5:c.60A>G, XM_005258909.4:c.60A>G, XM_005258909.3:c.60A>G, XM_005258909.2:c.60A>G, XM_005258909.1:c.60A>G, NM_001039886.4:c.267A>G, NM_001039886.3:c.267A>G, XR_002958314.2:n.432A>G, XR_002958314.1:n.410A>G, NM_001321424.2:c.267A>G, NM_001321424.1:c.267A>G, XM_024451506.2:c.267A>G, XM_024451506.1:c.267A>G, NM_001321425.2:c.267A>G, NM_001321425.1:c.267A>G, XM_024451507.2:c.267A>G, XM_024451507.1:c.267A>G, NM_001363550.2:c.60A>G, NM_001363550.1:c.60A>G, XM_047438802.1:c.267A>G

Select item 147584290615.

rs1475842906 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:52555197 (GRCh38)
19:53058450 (GRCh37)
Canonical SPDI:: NC_000019.10:52555196:A:G
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52555197A>G, NC_000019.9:g.53058450A>G, XM_005258909.5:c.2074A>G, XM_005258909.4:c.2074A>G, XM_005258909.3:c.2074A>G, XM_005258909.2:c.2074A>G, XM_005258909.1:c.2074A>G, NM_001039886.4:c.2281A>G, NM_001039886.3:c.2281A>G, XR_002958314.2:n.2446A>G, XR_002958314.1:n.2424A>G, NM_001321424.2:c.2281A>G, NM_001321424.1:c.2281A>G, XM_024451506.2:c.2281A>G, XM_024451506.1:c.2281A>G, NM_001321425.2:c.2281A>G, NM_001321425.1:c.2281A>G, XM_024451507.2:c.2281A>G, XM_024451507.1:c.2281A>G, NM_001363550.2:c.2074A>G, NM_001363550.1:c.2074A>G, XM_047438802.1:c.2281A>G, XP_005258966.1:p.Lys692Glu, NP_001034975.2:p.Lys761Glu, NP_001308353.1:p.Lys761Glu, XP_024307274.1:p.Lys761Glu, NP_001308354.1:p.Lys761Glu, XP_024307275.1:p.Lys761Glu, NP_001350479.1:p.Lys692Glu, XP_047294758.1:p.Lys761Glu

Select item 147568838516.

rs1475688385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52553570 (GRCh38)
19:53056823 (GRCh37)
Canonical SPDI:: NC_000019.10:52553569:C:T
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.52553570C>T, NC_000019.9:g.53056823C>T, XM_005258909.5:c.447C>T, XM_005258909.4:c.447C>T, XM_005258909.3:c.447C>T, XM_005258909.2:c.447C>T, XM_005258909.1:c.447C>T, NM_001039886.4:c.654C>T, NM_001039886.3:c.654C>T, XR_002958314.2:n.819C>T, XR_002958314.1:n.797C>T, NM_001321424.2:c.654C>T, NM_001321424.1:c.654C>T, XM_024451506.2:c.654C>T, XM_024451506.1:c.654C>T, NM_001321425.2:c.654C>T, NM_001321425.1:c.654C>T, XM_024451507.2:c.654C>T, XM_024451507.1:c.654C>T, NM_001363550.2:c.447C>T, NM_001363550.1:c.447C>T, XM_047438802.1:c.654C>T

Select item 147495060917.

rs1474950609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:52555571 (GRCh38)
19:53058824 (GRCh37)
Canonical SPDI:: NC_000019.10:52555570:T:G
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.52555571T>G, NC_000019.9:g.53058824T>G, XM_005258909.5:c.2448T>G, XM_005258909.4:c.2448T>G, XM_005258909.3:c.2448T>G, XM_005258909.2:c.2448T>G, XM_005258909.1:c.2448T>G, NM_001039886.4:c.2655T>G, NM_001039886.3:c.2655T>G, XR_002958314.2:n.2820T>G, XR_002958314.1:n.2798T>G, NM_001321424.2:c.2655T>G, NM_001321424.1:c.2655T>G, XM_024451506.2:c.2655T>G, XM_024451506.1:c.2655T>G, NM_001321425.2:c.2655T>G, NM_001321425.1:c.2655T>G, XM_024451507.2:c.2655T>G, XM_024451507.1:c.2655T>G, NM_001363550.2:c.2448T>G, NM_001363550.1:c.2448T>G, XM_047438802.1:c.2655T>G, XP_005258966.1:p.Ser816Arg, NP_001034975.2:p.Ser885Arg, NP_001308353.1:p.Ser885Arg, XP_024307274.1:p.Ser885Arg, NP_001308354.1:p.Ser885Arg, XP_024307275.1:p.Ser885Arg, NP_001350479.1:p.Ser816Arg, XP_047294758.1:p.Ser885Arg

Select item 147372800418.

rs1473728004 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:52554965 (GRCh38)
19:53058218 (GRCh37)
Canonical SPDI:: NC_000019.10:52554964:T:C
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_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_000019.10:g.52554965T>C, NC_000019.9:g.53058218T>C, XM_005258909.5:c.1842T>C, XM_005258909.4:c.1842T>C, XM_005258909.3:c.1842T>C, XM_005258909.2:c.1842T>C, XM_005258909.1:c.1842T>C, NM_001039886.4:c.2049T>C, NM_001039886.3:c.2049T>C, XR_002958314.2:n.2214T>C, XR_002958314.1:n.2192T>C, NM_001321424.2:c.2049T>C, NM_001321424.1:c.2049T>C, XM_024451506.2:c.2049T>C, XM_024451506.1:c.2049T>C, NM_001321425.2:c.2049T>C, NM_001321425.1:c.2049T>C, XM_024451507.2:c.2049T>C, XM_024451507.1:c.2049T>C, NM_001363550.2:c.1842T>C, NM_001363550.1:c.1842T>C, XM_047438802.1:c.2049T>C

Select item 147268705719.

rs1472687057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:52553849 (GRCh38)
19:53057102 (GRCh37)
Canonical SPDI:: NC_000019.10:52553848:A:C,NC_000019.10:52553848:A:G
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.52553849A>C, NC_000019.10:g.52553849A>G, NC_000019.9:g.53057102A>C, NC_000019.9:g.53057102A>G, XM_005258909.5:c.726A>C, XM_005258909.5:c.726A>G, XM_005258909.4:c.726A>C, XM_005258909.4:c.726A>G, XM_005258909.3:c.726A>C, XM_005258909.3:c.726A>G, XM_005258909.2:c.726A>C, XM_005258909.2:c.726A>G, XM_005258909.1:c.726A>C, XM_005258909.1:c.726A>G, NM_001039886.4:c.933A>C, NM_001039886.4:c.933A>G, NM_001039886.3:c.933A>C, NM_001039886.3:c.933A>G, XR_002958314.2:n.1098A>C, XR_002958314.2:n.1098A>G, XR_002958314.1:n.1076A>C, XR_002958314.1:n.1076A>G, NM_001321424.2:c.933A>C, NM_001321424.2:c.933A>G, NM_001321424.1:c.933A>C, NM_001321424.1:c.933A>G, XM_024451506.2:c.933A>C, XM_024451506.2:c.933A>G, XM_024451506.1:c.933A>C, XM_024451506.1:c.933A>G, NM_001321425.2:c.933A>C, NM_001321425.2:c.933A>G, NM_001321425.1:c.933A>C, NM_001321425.1:c.933A>G, XM_024451507.2:c.933A>C, XM_024451507.2:c.933A>G, XM_024451507.1:c.933A>C, XM_024451507.1:c.933A>G, NM_001363550.2:c.726A>C, NM_001363550.2:c.726A>G, NM_001363550.1:c.726A>C, NM_001363550.1:c.726A>G, XM_047438802.1:c.933A>C, XM_047438802.1:c.933A>G

Select item 147182039620.

rs1471820396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:52554424 (GRCh38)
19:53057677 (GRCh37)
Canonical SPDI:: NC_000019.10:52554423:G:A
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52554424G>A, NC_000019.9:g.53057677G>A, XM_005258909.5:c.1301G>A, XM_005258909.4:c.1301G>A, XM_005258909.3:c.1301G>A, XM_005258909.2:c.1301G>A, XM_005258909.1:c.1301G>A, NM_001039886.4:c.1508G>A, NM_001039886.3:c.1508G>A, XR_002958314.2:n.1673G>A, XR_002958314.1:n.1651G>A, NM_001321424.2:c.1508G>A, NM_001321424.1:c.1508G>A, XM_024451506.2:c.1508G>A, XM_024451506.1:c.1508G>A, NM_001321425.2:c.1508G>A, NM_001321425.1:c.1508G>A, XM_024451507.2:c.1508G>A, XM_024451507.1:c.1508G>A, NM_001363550.2:c.1301G>A, NM_001363550.1:c.1301G>A, XM_047438802.1:c.1508G>A, XP_005258966.1:p.Arg434Lys, NP_001034975.2:p.Arg503Lys, NP_001308353.1:p.Arg503Lys, XP_024307274.1:p.Arg503Lys, NP_001308354.1:p.Arg503Lys, XP_024307275.1:p.Arg503Lys, NP_001350479.1:p.Arg434Lys, XP_047294758.1:p.Arg503Lys

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