SNP Links for Protein (Select 61966763) - SNP

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Links from Protein

Items: 1 to 20 of 628

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Select item 14898405811.

rs1489840581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:1485994 (GRCh38)
16:1535995 (GRCh37)
Canonical SPDI:: NC_000016.10:1485993:A:G
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1485994A>G, NC_000016.9:g.1535995A>G, NM_001328608.2:c.1382T>C, NM_001328608.1:c.1382T>C, NM_001013658.1:c.1367T>C, NP_001315537.1:p.Leu461Pro, NP_001013680.1:p.Leu456Pro

Select item 14893906392.

rs1489390639 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:1486019 (GRCh38)
16:1536020 (GRCh37)
Canonical SPDI:: NC_000016.10:1486018:T:A
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.1486019T>A, NC_000016.9:g.1536020T>A, NM_001328608.2:c.1357A>T, NM_001328608.1:c.1357A>T, NM_001013658.1:c.1342A>T, NP_001315537.1:p.Ile453Phe, NP_001013680.1:p.Ile448Phe

Select item 14883098033.

rs1488309803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:1487672 (GRCh38)
16:1537673 (GRCh37)
Canonical SPDI:: NC_000016.10:1487671:C:A
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.1487672C>A, NC_000016.9:g.1537673C>A, NM_001328608.2:c.440G>T, NM_001328608.1:c.440G>T, NM_001013658.1:c.425G>T, NP_001315537.1:p.Arg147Met, NP_001013680.1:p.Arg142Met

Select item 14882448774.

rs1488244877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:1486155 (GRCh38)
16:1536156 (GRCh37)
Canonical SPDI:: NC_000016.10:1486154:T:G
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1486155T>G, NC_000016.9:g.1536156T>G, NM_001328608.2:c.1221A>C, NM_001328608.1:c.1221A>C, NM_001013658.1:c.1206A>C, NP_001315537.1:p.Gln407His, NP_001013680.1:p.Gln402His

Select item 14859922105.

rs1485992210 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:1487609 (GRCh38)
16:1537610 (GRCh37)
Canonical SPDI:: NC_000016.10:1487608:A:G
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.1487609A>G, NC_000016.9:g.1537610A>G, NM_001328608.2:c.503T>C, NM_001328608.1:c.503T>C, NM_001013658.1:c.488T>C, NP_001315537.1:p.Leu168Pro, NP_001013680.1:p.Leu163Pro

Select item 14850050646.

rs1485005064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1487618 (GRCh38)
16:1537619 (GRCh37)
Canonical SPDI:: NC_000016.10:1487617:C:T
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1487618C>T, NC_000016.9:g.1537619C>T, NM_001328608.2:c.494G>A, NM_001328608.1:c.494G>A, NM_001013658.1:c.479G>A, NP_001315537.1:p.Gly165Asp, NP_001013680.1:p.Gly160Asp

Select item 14847161787.

rs1484716178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:1486323 (GRCh38)
16:1536324 (GRCh37)
Canonical SPDI:: NC_000016.10:1486322:G:C,NC_000016.10:1486322:G:T
Gene:: PTX4 (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)
T=0.000212/4 (TOMMO)
HGVS:: NC_000016.10:g.1486323G>C, NC_000016.10:g.1486323G>T, NC_000016.9:g.1536324G>C, NC_000016.9:g.1536324G>T, NM_001328608.2:c.1053C>G, NM_001328608.2:c.1053C>A, NM_001328608.1:c.1053C>G, NM_001328608.1:c.1053C>A, NM_001013658.1:c.1038C>G, NM_001013658.1:c.1038C>A

Select item 14828677138.

rs1482867713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:1487552 (GRCh38)
16:1537553 (GRCh37)
Canonical SPDI:: NC_000016.10:1487551:G:A,NC_000016.10:1487551:G:C,NC_000016.10:1487551:G:T
Gene:: PTX4 (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)
C=0.000007/1 (GnomAD)
A=0.00003/5 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1487552G>A, NC_000016.10:g.1487552G>C, NC_000016.10:g.1487552G>T, NC_000016.9:g.1537553G>A, NC_000016.9:g.1537553G>C, NC_000016.9:g.1537553G>T, NM_001328608.2:c.560C>T, NM_001328608.2:c.560C>G, NM_001328608.2:c.560C>A, NM_001328608.1:c.560C>T, NM_001328608.1:c.560C>G, NM_001328608.1:c.560C>A, NM_001013658.1:c.545C>T, NM_001013658.1:c.545C>G, NM_001013658.1:c.545C>A, NP_001315537.1:p.Pro187Leu, NP_001315537.1:p.Pro187Arg, NP_001315537.1:p.Pro187Gln, NP_001013680.1:p.Pro182Leu, NP_001013680.1:p.Pro182Arg, NP_001013680.1:p.Pro182Gln

Select item 14826158969.

rs1482615896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:1486353 (GRCh38)
16:1536354 (GRCh37)
Canonical SPDI:: NC_000016.10:1486352:C:A,NC_000016.10:1486352:C:T
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1486353C>A, NC_000016.10:g.1486353C>T, NC_000016.9:g.1536354C>A, NC_000016.9:g.1536354C>T, NM_001328608.2:c.1023G>T, NM_001328608.2:c.1023G>A, NM_001328608.1:c.1023G>T, NM_001328608.1:c.1023G>A, NM_001013658.1:c.1008G>T, NM_001013658.1:c.1008G>A

Select item 148157161810.

rs1481571618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1487452 (GRCh38)
16:1537453 (GRCh37)
Canonical SPDI:: NC_000016.10:1487451:C:T
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1487452C>T, NC_000016.9:g.1537453C>T, NM_001328608.2:c.660G>A, NM_001328608.1:c.660G>A, NM_001013658.1:c.645G>A

Select item 147930464011.

rs1479304640 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:1485941 (GRCh38)
16:1535942 (GRCh37)
Canonical SPDI:: NC_000016.10:1485940:A:C
Gene:: PTX4 (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1485941A>C, NC_000016.9:g.1535942A>C, NM_001328608.2:c.1435T>G, NM_001328608.1:c.1435T>G, NM_001013658.1:c.1420T>G, NP_001315537.1:p.Ter479Gly, NP_001013680.1:p.Ter474Gly

Select item 147868705312.

rs1478687053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1487355 (GRCh38)
16:1537356 (GRCh37)
Canonical SPDI:: NC_000016.10:1487354:G:A
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000016.10:g.1487355G>A, NC_000016.9:g.1537356G>A, NM_001328608.2:c.757C>T, NM_001328608.1:c.757C>T, NM_001013658.1:c.742C>T, NP_001315537.1:p.Pro253Ser, NP_001013680.1:p.Pro248Ser

Select item 147691153413.

rs1476911534 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:1487386 (GRCh38)
16:1537387 (GRCh37)
Canonical SPDI:: NC_000016.10:1487385:A:G
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1487386A>G, NC_000016.9:g.1537387A>G, NM_001328608.2:c.726T>C, NM_001328608.1:c.726T>C, NM_001013658.1:c.711T>C

Select item 147541736714.

rs1475417367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1487850 (GRCh38)
16:1537851 (GRCh37)
Canonical SPDI:: NC_000016.10:1487849:G:A
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1487850G>A, NC_000016.9:g.1537851G>A, NM_001328608.2:c.262C>T, NM_001328608.1:c.262C>T, NM_001013658.1:c.247C>T, NP_001315537.1:p.Gln88Ter, NP_001013680.1:p.Gln83Ter

Select item 147278714615.

rs1472787146 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1487565 (GRCh38)
16:1537566 (GRCh37)
Canonical SPDI:: NC_000016.10:1487564:C:T
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1487565C>T, NC_000016.9:g.1537566C>T, NM_001328608.2:c.547G>A, NM_001328608.1:c.547G>A, NM_001013658.1:c.532G>A, NP_001315537.1:p.Ala183Thr, NP_001013680.1:p.Ala178Thr

Select item 147207924816.

rs1472079248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1486064 (GRCh38)
16:1536065 (GRCh37)
Canonical SPDI:: NC_000016.10:1486063:C:T
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1486064C>T, NC_000016.9:g.1536065C>T, NM_001328608.2:c.1312G>A, NM_001328608.1:c.1312G>A, NM_001013658.1:c.1297G>A, NP_001315537.1:p.Glu438Lys, NP_001013680.1:p.Glu433Lys

Select item 146958230817.

rs1469582308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:1487420 (GRCh38)
16:1537421 (GRCh37)
Canonical SPDI:: NC_000016.10:1487419:T:C
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1487420T>C, NC_000016.9:g.1537421T>C, NM_001328608.2:c.692A>G, NM_001328608.1:c.692A>G, NM_001013658.1:c.677A>G, NP_001315537.1:p.Gln231Arg, NP_001013680.1:p.Gln226Arg

Select item 146936330718.

rs1469363307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1487958 (GRCh38)
16:1537959 (GRCh37)
Canonical SPDI:: NC_000016.10:1487957:G:A
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.1487958G>A, NC_000016.9:g.1537959G>A, NM_001328608.2:c.154C>T, NM_001328608.1:c.154C>T, NM_001013658.1:c.139C>T, NP_001315537.1:p.Gln52Ter, NP_001013680.1:p.Gln47Ter

Select item 146908436419.

rs1469084364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:1486519 (GRCh38)
16:1536520 (GRCh37)
Canonical SPDI:: NC_000016.10:1486518:A:T
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1486519A>T, NC_000016.9:g.1536520A>T, NM_001328608.2:c.857T>A, NM_001328608.1:c.857T>A, NM_001013658.1:c.842T>A, NP_001315537.1:p.Leu286His, NP_001013680.1:p.Leu281His

Select item 146710078720.

rs1467100787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:1486128 (GRCh38)
16:1536129 (GRCh37)
Canonical SPDI:: NC_000016.10:1486127:G:T
Gene:: PTX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1486128G>T, NC_000016.9:g.1536129G>T, NM_001328608.2:c.1248C>A, NM_001328608.1:c.1248C>A, NM_001013658.1:c.1233C>A, NP_001315537.1:p.Ser416Arg, NP_001013680.1:p.Ser411Arg

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