SNP Links for Protein (Select 767903526) - SNP

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Links from Protein

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Select item 14840194791.

rs1484019479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:17342386 (GRCh38)
1:17668881 (GRCh37)
Canonical SPDI:: NC_000001.11:17342385:G:C
Gene:: PADI4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17342386G>C, NC_000001.10:g.17668881G>C, NG_023261.2:g.39197G>C, NM_012387.3:c.919G>C, NM_012387.2:c.919G>C, NW_011332688.1:g.187609G>C, XM_011541154.3:c.919G>C, XM_011541154.2:c.919G>C, XM_011541154.1:c.919G>C, XM_011541151.2:c.919G>C, XM_011541151.1:c.919G>C, XM_011541155.2:c.919G>C, XM_011541155.1:c.919G>C, XM_011541153.2:c.919G>C, XM_011541153.1:c.919G>C, XM_011541156.2:c.919G>C, XM_011541156.1:c.919G>C, XM_011541150.1:c.733G>C, XM_011541152.1:c.382G>C, XM_047416610.1:c.28G>C, NP_036519.2:p.Glu307Gln, XP_011539456.1:p.Glu307Gln, XP_011539453.1:p.Glu307Gln, XP_011539457.1:p.Glu307Gln, XP_011539455.1:p.Glu307Gln, XP_011539458.1:p.Glu307Gln, XP_011539452.1:p.Glu245Gln, XP_011539454.1:p.Glu128Gln, XP_047272566.1:p.Glu10Gln

Select item 14834064092.

rs1483406409 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:17331055 (GRCh38)
1:17657550 (GRCh37)
Canonical SPDI:: NC_000001.11:17331054:A:G
Gene:: PADI4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17331055A>G, NC_000001.10:g.17657550A>G, NG_023261.2:g.27866A>G, NM_012387.3:c.179A>G, NM_012387.2:c.179A>G, NW_011332688.1:g.176278A>G, XM_011541154.3:c.179A>G, XM_011541154.2:c.179A>G, XM_011541154.1:c.179A>G, XM_011541151.2:c.179A>G, XM_011541151.1:c.179A>G, XM_011541155.2:c.179A>G, XM_011541155.1:c.179A>G, XM_011541153.2:c.179A>G, XM_011541153.1:c.179A>G, XM_011541156.2:c.179A>G, XM_011541156.1:c.179A>G, XM_011541150.1:c.179A>G, NP_036519.2:p.Lys60Arg, XP_011539456.1:p.Lys60Arg, XP_011539453.1:p.Lys60Arg, XP_011539457.1:p.Lys60Arg, XP_011539455.1:p.Lys60Arg, XP_011539458.1:p.Lys60Arg, XP_011539452.1:p.Lys60Arg

Select item 14794980203.

rs1479498020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:17331076 (GRCh38)
1:17657571 (GRCh37)
Canonical SPDI:: NC_000001.11:17331075:C:A
Gene:: PADI4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.17331076C>A, NC_000001.10:g.17657571C>A, NG_023261.2:g.27887C>A, NM_012387.3:c.200C>A, NM_012387.2:c.200C>A, NW_011332688.1:g.176299C>A, XM_011541154.3:c.200C>A, XM_011541154.2:c.200C>A, XM_011541154.1:c.200C>A, XM_011541151.2:c.200C>A, XM_011541151.1:c.200C>A, XM_011541155.2:c.200C>A, XM_011541155.1:c.200C>A, XM_011541153.2:c.200C>A, XM_011541153.1:c.200C>A, XM_011541156.2:c.200C>A, XM_011541156.1:c.200C>A, XM_011541150.1:c.200C>A, NP_036519.2:p.Thr67Lys, XP_011539456.1:p.Thr67Lys, XP_011539453.1:p.Thr67Lys, XP_011539457.1:p.Thr67Lys, XP_011539455.1:p.Thr67Lys, XP_011539458.1:p.Thr67Lys, XP_011539452.1:p.Thr67Lys

Select item 14770229374.

rs1477022937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:17334006 (GRCh38)
1:17660501 (GRCh37)
Canonical SPDI:: NC_000001.11:17334005:G:A,NC_000001.11:17334005:G:C
Gene:: PADI4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.17334006G>A, NC_000001.11:g.17334006G>C, NC_000001.10:g.17660501G>A, NC_000001.10:g.17660501G>C, NG_023261.2:g.30817G>A, NG_023261.2:g.30817G>C, NM_012387.3:c.337G>A, NM_012387.3:c.337G>C, NM_012387.2:c.337G>A, NM_012387.2:c.337G>C, NW_011332688.1:g.179229G>A, NW_011332688.1:g.179229G>C, XM_011541154.3:c.337G>A, XM_011541154.3:c.337G>C, XM_011541154.2:c.337G>A, XM_011541154.2:c.337G>C, XM_011541154.1:c.337G>A, XM_011541154.1:c.337G>C, XM_011541151.2:c.337G>A, XM_011541151.2:c.337G>C, XM_011541151.1:c.337G>A, XM_011541151.1:c.337G>C, XM_011541155.2:c.337G>A, XM_011541155.2:c.337G>C, XM_011541155.1:c.337G>A, XM_011541155.1:c.337G>C, XM_011541153.2:c.337G>A, XM_011541153.2:c.337G>C, XM_011541153.1:c.337G>A, XM_011541153.1:c.337G>C, XM_011541156.2:c.337G>A, XM_011541156.2:c.337G>C, XM_011541156.1:c.337G>A, XM_011541156.1:c.337G>C, XM_011541150.1:c.337G>A, XM_011541150.1:c.337G>C, XM_011541152.1:c.-83G>A, XM_011541152.1:c.-83G>C, NP_036519.2:p.Val113Met, NP_036519.2:p.Val113Leu, XP_011539456.1:p.Val113Met, XP_011539456.1:p.Val113Leu, XP_011539453.1:p.Val113Met, XP_011539453.1:p.Val113Leu, XP_011539457.1:p.Val113Met, XP_011539457.1:p.Val113Leu, XP_011539455.1:p.Val113Met, XP_011539455.1:p.Val113Leu, XP_011539458.1:p.Val113Met, XP_011539458.1:p.Val113Leu, XP_011539452.1:p.Val113Met, XP_011539452.1:p.Val113Leu

Select item 14751573385.

rs1475157338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:17341994 (GRCh38)
1:17668489 (GRCh37)
Canonical SPDI:: NC_000001.11:17341993:C:G,NC_000001.11:17341993:C:T
Gene:: PADI4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000115/29 (GnomAD_exomes)
T=0.000478/67 (GnomAD)
HGVS:: NC_000001.11:g.17341994C>G, NC_000001.11:g.17341994C>T, NC_000001.10:g.17668489C>G, NC_000001.10:g.17668489C>T, NG_023261.2:g.38805C>G, NG_023261.2:g.38805C>T, NM_012387.3:c.704C>G, NM_012387.3:c.704C>T, NM_012387.2:c.704C>G, NM_012387.2:c.704C>T, NW_011332688.1:g.187217C>G, NW_011332688.1:g.187217C>T, XM_011541154.3:c.704C>G, XM_011541154.3:c.704C>T, XM_011541154.2:c.704C>G, XM_011541154.2:c.704C>T, XM_011541154.1:c.704C>G, XM_011541154.1:c.704C>T, XM_011541151.2:c.704C>G, XM_011541151.2:c.704C>T, XM_011541151.1:c.704C>G, XM_011541151.1:c.704C>T, XM_011541155.2:c.704C>G, XM_011541155.2:c.704C>T, XM_011541155.1:c.704C>G, XM_011541155.1:c.704C>T, XM_011541153.2:c.704C>G, XM_011541153.2:c.704C>T, XM_011541153.1:c.704C>G, XM_011541153.1:c.704C>T, XM_011541156.2:c.704C>G, XM_011541156.2:c.704C>T, XM_011541156.1:c.704C>G, XM_011541156.1:c.704C>T, XM_011541150.1:c.518C>G, XM_011541150.1:c.518C>T, XM_011541152.1:c.167C>G, XM_011541152.1:c.167C>T, NP_036519.2:p.Ser235Cys, NP_036519.2:p.Ser235Phe, XP_011539456.1:p.Ser235Cys, XP_011539456.1:p.Ser235Phe, XP_011539453.1:p.Ser235Cys, XP_011539453.1:p.Ser235Phe, XP_011539457.1:p.Ser235Cys, XP_011539457.1:p.Ser235Phe, XP_011539455.1:p.Ser235Cys, XP_011539455.1:p.Ser235Phe, XP_011539458.1:p.Ser235Cys, XP_011539458.1:p.Ser235Phe, XP_011539452.1:p.Ser173Cys, XP_011539452.1:p.Ser173Phe, XP_011539454.1:p.Ser56Cys, XP_011539454.1:p.Ser56Phe

Select item 14735672276.

rs1473567227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:17338045 (GRCh38)
1:17664540 (GRCh37)
Canonical SPDI:: NC_000001.11:17338044:G:A
Gene:: PADI4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,stop_gained,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.17338045G>A, NC_000001.10:g.17664540G>A, NG_023261.2:g.34856G>A, NM_012387.3:c.416G>A, NM_012387.2:c.416G>A, NW_011332688.1:g.183268G>A, XM_011541154.3:c.416G>A, XM_011541154.2:c.416G>A, XM_011541154.1:c.416G>A, XM_011541151.2:c.416G>A, XM_011541151.1:c.416G>A, XM_011541155.2:c.416G>A, XM_011541155.1:c.416G>A, XM_011541153.2:c.416G>A, XM_011541153.1:c.416G>A, XM_011541156.2:c.416G>A, XM_011541156.1:c.416G>A, NP_036519.2:p.Trp139Ter, XP_011539456.1:p.Trp139Ter, XP_011539453.1:p.Trp139Ter, XP_011539457.1:p.Trp139Ter, XP_011539455.1:p.Trp139Ter, XP_011539458.1:p.Trp139Ter

Select item 14734619317.

rs1473461931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:17342053 (GRCh38)
1:17668548 (GRCh37)
Canonical SPDI:: NC_000001.11:17342052:G:A
Gene:: PADI4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17342053G>A, NC_000001.10:g.17668548G>A, NG_023261.2:g.38864G>A, NM_012387.3:c.763G>A, NM_012387.2:c.763G>A, NW_011332688.1:g.187276G>A, XM_011541154.3:c.763G>A, XM_011541154.2:c.763G>A, XM_011541154.1:c.763G>A, XM_011541151.2:c.763G>A, XM_011541151.1:c.763G>A, XM_011541155.2:c.763G>A, XM_011541155.1:c.763G>A, XM_011541153.2:c.763G>A, XM_011541153.1:c.763G>A, XM_011541156.2:c.763G>A, XM_011541156.1:c.763G>A, XM_011541150.1:c.577G>A, XM_011541152.1:c.226G>A, NP_036519.2:p.Ala255Thr, XP_011539456.1:p.Ala255Thr, XP_011539453.1:p.Ala255Thr, XP_011539457.1:p.Ala255Thr, XP_011539455.1:p.Ala255Thr, XP_011539458.1:p.Ala255Thr, XP_011539452.1:p.Ala193Thr, XP_011539454.1:p.Ala76Thr

Select item 14718176308.

rs1471817630 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:17348023 (GRCh38)
1:17674518 (GRCh37)
Canonical SPDI:: NC_000001.11:17348022:A:G
Gene:: PADI4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.17348023A>G, NC_000001.10:g.17674518A>G, NG_023261.2:g.44834A>G, NM_012387.3:c.1130A>G, NM_012387.2:c.1130A>G, NW_011332688.1:g.193246A>G, XM_011541154.3:c.1130A>G, XM_011541154.2:c.1130A>G, XM_011541154.1:c.1130A>G, XM_011541151.2:c.1130A>G, XM_011541151.1:c.1130A>G, XM_011541155.2:c.1130A>G, XM_011541155.1:c.1130A>G, XM_011541153.2:c.1130A>G, XM_011541153.1:c.1130A>G, XM_011541156.2:c.1130A>G, XM_011541156.1:c.1130A>G, XM_011541150.1:c.944A>G, XM_011541152.1:c.593A>G, XM_047416610.1:c.239A>G, NP_036519.2:p.Lys377Arg, XP_011539456.1:p.Lys377Arg, XP_011539453.1:p.Lys377Arg, XP_011539457.1:p.Lys377Arg, XP_011539455.1:p.Lys377Arg, XP_011539458.1:p.Lys377Arg, XP_011539452.1:p.Lys315Arg, XP_011539454.1:p.Lys198Arg, XP_047272566.1:p.Lys80Arg

Select item 14715878549.

rs1471587854 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:17331029 (GRCh38)
1:17657524 (GRCh37)
Canonical SPDI:: NC_000001.11:17331028:T:C
Gene:: PADI4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_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_000001.11:g.17331029T>C, NC_000001.10:g.17657524T>C, NG_023261.2:g.27840T>C, NM_012387.3:c.153T>C, NM_012387.2:c.153T>C, NW_011332688.1:g.176252T>C, XM_011541154.3:c.153T>C, XM_011541154.2:c.153T>C, XM_011541154.1:c.153T>C, XM_011541151.2:c.153T>C, XM_011541151.1:c.153T>C, XM_011541155.2:c.153T>C, XM_011541155.1:c.153T>C, XM_011541153.2:c.153T>C, XM_011541153.1:c.153T>C, XM_011541156.2:c.153T>C, XM_011541156.1:c.153T>C, XM_011541150.1:c.153T>C

Select item 147114151710.

rs1471141517 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:17338133 (GRCh38)
1:17664628 (GRCh37)
Canonical SPDI:: NC_000001.11:17338132:T:C
Gene:: PADI4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.17338133T>C, NC_000001.10:g.17664628T>C, NG_023261.2:g.34944T>C, NM_012387.3:c.504T>C, NM_012387.2:c.504T>C, NW_011332688.1:g.183356T>C, XM_011541154.3:c.504T>C, XM_011541154.2:c.504T>C, XM_011541154.1:c.504T>C, XM_011541151.2:c.504T>C, XM_011541151.1:c.504T>C, XM_011541155.2:c.504T>C, XM_011541155.1:c.504T>C, XM_011541153.2:c.504T>C, XM_011541153.1:c.504T>C, XM_011541156.2:c.504T>C, XM_011541156.1:c.504T>C

Select item 146812097811.

rs1468120978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:17308301 (GRCh38)
1:17634796 (GRCh37)
Canonical SPDI:: NC_000001.11:17308300:C:T
Gene:: PADI4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17308301C>T, NC_000001.10:g.17634796C>T, NG_023261.2:g.5113C>T, NM_012387.3:c.79C>T, NM_012387.2:c.79C>T, NW_011332688.1:g.153525C>T, XM_011541154.3:c.79C>T, XM_011541154.2:c.79C>T, XM_011541154.1:c.79C>T, XM_011541151.2:c.79C>T, XM_011541151.1:c.79C>T, XM_011541155.2:c.79C>T, XM_011541155.1:c.79C>T, XM_011541153.2:c.79C>T, XM_011541153.1:c.79C>T, XM_011541156.2:c.79C>T, XM_011541156.1:c.79C>T, XM_011541150.1:c.79C>T, NP_036519.2:p.Leu27Phe, XP_011539456.1:p.Leu27Phe, XP_011539453.1:p.Leu27Phe, XP_011539457.1:p.Leu27Phe, XP_011539455.1:p.Leu27Phe, XP_011539458.1:p.Leu27Phe, XP_011539452.1:p.Leu27Phe

Select item 146701061212.

rs1467010612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:17339796 (GRCh38)
1:17666291 (GRCh37)
Canonical SPDI:: NC_000001.11:17339795:G:C
Gene:: PADI4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.17339796G>C, NC_000001.10:g.17666291G>C, NG_023261.2:g.36607G>C, NM_012387.3:c.635G>C, NM_012387.2:c.635G>C, NW_011332688.1:g.185019G>C, XM_011541154.3:c.635G>C, XM_011541154.2:c.635G>C, XM_011541154.1:c.635G>C, XM_011541151.2:c.635G>C, XM_011541151.1:c.635G>C, XM_011541155.2:c.635G>C, XM_011541155.1:c.635G>C, XM_011541153.2:c.635G>C, XM_011541153.1:c.635G>C, XM_011541156.2:c.635G>C, XM_011541156.1:c.635G>C, XM_011541150.1:c.449G>C, XM_011541152.1:c.98G>C, XM_047416610.1:c.-78G>C, NP_036519.2:p.Arg212Thr, XP_011539456.1:p.Arg212Thr, XP_011539453.1:p.Arg212Thr, XP_011539457.1:p.Arg212Thr, XP_011539455.1:p.Arg212Thr, XP_011539458.1:p.Arg212Thr, XP_011539452.1:p.Arg150Thr, XP_011539454.1:p.Arg33Thr

Select item 146511305913.

rs1465113059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:17308240 (GRCh38)
1:17634735 (GRCh37)
Canonical SPDI:: NC_000001.11:17308239:G:A,NC_000001.11:17308239:G:T
Gene:: PADI4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17308240G>A, NC_000001.11:g.17308240G>T, NC_000001.10:g.17634735G>A, NC_000001.10:g.17634735G>T, NG_023261.2:g.5052G>A, NG_023261.2:g.5052G>T, NM_012387.3:c.18G>A, NM_012387.3:c.18G>T, NM_012387.2:c.18G>A, NM_012387.2:c.18G>T, NW_011332688.1:g.153464G>A, NW_011332688.1:g.153464G>T, XM_011541154.3:c.18G>A, XM_011541154.3:c.18G>T, XM_011541154.2:c.18G>A, XM_011541154.2:c.18G>T, XM_011541154.1:c.18G>A, XM_011541154.1:c.18G>T, XM_011541151.2:c.18G>A, XM_011541151.2:c.18G>T, XM_011541151.1:c.18G>A, XM_011541151.1:c.18G>T, XM_011541155.2:c.18G>A, XM_011541155.2:c.18G>T, XM_011541155.1:c.18G>A, XM_011541155.1:c.18G>T, XM_011541153.2:c.18G>A, XM_011541153.2:c.18G>T, XM_011541153.1:c.18G>A, XM_011541153.1:c.18G>T, XM_011541156.2:c.18G>A, XM_011541156.2:c.18G>T, XM_011541156.1:c.18G>A, XM_011541156.1:c.18G>T, XM_011541150.1:c.18G>A, XM_011541150.1:c.18G>T, NP_036519.2:p.Leu6Phe, XP_011539456.1:p.Leu6Phe, XP_011539453.1:p.Leu6Phe, XP_011539457.1:p.Leu6Phe, XP_011539455.1:p.Leu6Phe, XP_011539458.1:p.Leu6Phe, XP_011539452.1:p.Leu6Phe

Select item 146471720214.

rs1464717202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:17339719 (GRCh38)
1:17666214 (GRCh37)
Canonical SPDI:: NC_000001.11:17339718:C:T
Gene:: PADI4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.17339719C>T, NC_000001.10:g.17666214C>T, NG_023261.2:g.36530C>T, NM_012387.3:c.558C>T, NM_012387.2:c.558C>T, NW_011332688.1:g.184942C>T, XM_011541154.3:c.558C>T, XM_011541154.2:c.558C>T, XM_011541154.1:c.558C>T, XM_011541151.2:c.558C>T, XM_011541151.1:c.558C>T, XM_011541155.2:c.558C>T, XM_011541155.1:c.558C>T, XM_011541153.2:c.558C>T, XM_011541153.1:c.558C>T, XM_011541156.2:c.558C>T, XM_011541156.1:c.558C>T, XM_011541150.1:c.372C>T, XM_011541152.1:c.21C>T

Select item 146425225815.

rs1464252258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:17338092 (GRCh38)
1:17664587 (GRCh37)
Canonical SPDI:: NC_000001.11:17338091:G:A
Gene:: PADI4 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_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_000001.11:g.17338092G>A, NC_000001.10:g.17664587G>A, NG_023261.2:g.34903G>A, NM_012387.3:c.463G>A, NM_012387.2:c.463G>A, NW_011332688.1:g.183315G>A, XM_011541154.3:c.463G>A, XM_011541154.2:c.463G>A, XM_011541154.1:c.463G>A, XM_011541151.2:c.463G>A, XM_011541151.1:c.463G>A, XM_011541155.2:c.463G>A, XM_011541155.1:c.463G>A, XM_011541153.2:c.463G>A, XM_011541153.1:c.463G>A, XM_011541156.2:c.463G>A, XM_011541156.1:c.463G>A, NP_036519.2:p.Asp155Asn, XP_011539456.1:p.Asp155Asn, XP_011539453.1:p.Asp155Asn, XP_011539457.1:p.Asp155Asn, XP_011539455.1:p.Asp155Asn, XP_011539458.1:p.Asp155Asn

Select item 145868995616.

rs1458689956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:17330984 (GRCh38)
1:17657479 (GRCh37)
Canonical SPDI:: NC_000001.11:17330983:C:T
Gene:: PADI4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17330984C>T, NC_000001.10:g.17657479C>T, NG_023261.2:g.27795C>T, NM_012387.3:c.108C>T, NM_012387.2:c.108C>T, NW_011332688.1:g.176207C>T, XM_011541154.3:c.108C>T, XM_011541154.2:c.108C>T, XM_011541154.1:c.108C>T, XM_011541151.2:c.108C>T, XM_011541151.1:c.108C>T, XM_011541155.2:c.108C>T, XM_011541155.1:c.108C>T, XM_011541153.2:c.108C>T, XM_011541153.1:c.108C>T, XM_011541156.2:c.108C>T, XM_011541156.1:c.108C>T, XM_011541150.1:c.108C>T

Select item 145740447517.

rs1457404475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:17341998 (GRCh38)
1:17668493 (GRCh37)
Canonical SPDI:: NC_000001.11:17341997:C:G
Gene:: PADI4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_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.17341998C>G, NC_000001.10:g.17668493C>G, NG_023261.2:g.38809C>G, NM_012387.3:c.708C>G, NM_012387.2:c.708C>G, NW_011332688.1:g.187221C>G, XM_011541154.3:c.708C>G, XM_011541154.2:c.708C>G, XM_011541154.1:c.708C>G, XM_011541151.2:c.708C>G, XM_011541151.1:c.708C>G, XM_011541155.2:c.708C>G, XM_011541155.1:c.708C>G, XM_011541153.2:c.708C>G, XM_011541153.1:c.708C>G, XM_011541156.2:c.708C>G, XM_011541156.1:c.708C>G, XM_011541150.1:c.522C>G, XM_011541152.1:c.171C>G, NP_036519.2:p.His236Gln, XP_011539456.1:p.His236Gln, XP_011539453.1:p.His236Gln, XP_011539457.1:p.His236Gln, XP_011539455.1:p.His236Gln, XP_011539458.1:p.His236Gln, XP_011539452.1:p.His174Gln, XP_011539454.1:p.His57Gln

Select item 145474254218.

rs1454742542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:17339804 (GRCh38)
1:17666299 (GRCh37)
Canonical SPDI:: NC_000001.11:17339803:C:T
Gene:: PADI4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17339804C>T, NC_000001.10:g.17666299C>T, NG_023261.2:g.36615C>T, NM_012387.3:c.643C>T, NM_012387.2:c.643C>T, NW_011332688.1:g.185027C>T, XM_011541154.3:c.643C>T, XM_011541154.2:c.643C>T, XM_011541154.1:c.643C>T, XM_011541151.2:c.643C>T, XM_011541151.1:c.643C>T, XM_011541155.2:c.643C>T, XM_011541155.1:c.643C>T, XM_011541153.2:c.643C>T, XM_011541153.1:c.643C>T, XM_011541156.2:c.643C>T, XM_011541156.1:c.643C>T, XM_011541150.1:c.457C>T, XM_011541152.1:c.106C>T, XM_047416610.1:c.-70C>T, NP_036519.2:p.Gln215Ter, XP_011539456.1:p.Gln215Ter, XP_011539453.1:p.Gln215Ter, XP_011539457.1:p.Gln215Ter, XP_011539455.1:p.Gln215Ter, XP_011539458.1:p.Gln215Ter, XP_011539452.1:p.Gln153Ter, XP_011539454.1:p.Gln36Ter

Select item 145313332919.

rs1453133329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:17331108 (GRCh38)
1:17657603 (GRCh37)
Canonical SPDI:: NC_000001.11:17331107:C:T
Gene:: PADI4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.17331108C>T, NC_000001.10:g.17657603C>T, NG_023261.2:g.27919C>T, NM_012387.3:c.232C>T, NM_012387.2:c.232C>T, NW_011332688.1:g.176331C>T, XM_011541154.3:c.232C>T, XM_011541154.2:c.232C>T, XM_011541154.1:c.232C>T, XM_011541151.2:c.232C>T, XM_011541151.1:c.232C>T, XM_011541155.2:c.232C>T, XM_011541155.1:c.232C>T, XM_011541153.2:c.232C>T, XM_011541153.1:c.232C>T, XM_011541156.2:c.232C>T, XM_011541156.1:c.232C>T, XM_011541150.1:c.232C>T

Select item 145250771820.

rs1452507718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:17346061 (GRCh38)
1:17672556 (GRCh37)
Canonical SPDI:: NC_000001.11:17346060:G:A,NC_000001.11:17346060:G:T
Gene:: PADI4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.17346061G>A, NC_000001.11:g.17346061G>T, NC_000001.10:g.17672556G>A, NC_000001.10:g.17672556G>T, NG_023261.2:g.42872G>A, NG_023261.2:g.42872G>T, NM_012387.3:c.969G>A, NM_012387.3:c.969G>T, NM_012387.2:c.969G>A, NM_012387.2:c.969G>T, NW_011332688.1:g.191284G>A, NW_011332688.1:g.191284G>T, XM_011541154.3:c.969G>A, XM_011541154.3:c.969G>T, XM_011541154.2:c.969G>A, XM_011541154.2:c.969G>T, XM_011541154.1:c.969G>A, XM_011541154.1:c.969G>T, XM_011541151.2:c.969G>A, XM_011541151.2:c.969G>T, XM_011541151.1:c.969G>A, XM_011541151.1:c.969G>T, XM_011541155.2:c.969G>A, XM_011541155.2:c.969G>T, XM_011541155.1:c.969G>A, XM_011541155.1:c.969G>T, XM_011541153.2:c.969G>A, XM_011541153.2:c.969G>T, XM_011541153.1:c.969G>A, XM_011541153.1:c.969G>T, XM_011541156.2:c.969G>A, XM_011541156.2:c.969G>T, XM_011541156.1:c.969G>A, XM_011541156.1:c.969G>T, XM_011541150.1:c.783G>A, XM_011541150.1:c.783G>T, XM_011541152.1:c.432G>A, XM_011541152.1:c.432G>T, XM_047416610.1:c.78G>A, XM_047416610.1:c.78G>T

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