SNP Links for Protein (Select 767903927) - SNP

Select item 14909712661.

rs1490971266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:17230640 (GRCh38)
1:17557135 (GRCh37)
Canonical SPDI:: NC_000001.11:17230639:G:A
Gene:: PADI1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.17230640G>A, NC_000001.10:g.17557135G>A, NW_011332688.1:g.73154G>A, NM_013358.3:c.1122G>A, NM_013358.2:c.1122G>A, XM_017001103.3:c.1122G>A, XM_017001103.2:c.1122G>A, XM_017001103.1:c.1122G>A, XR_946619.3:n.1212G>A, XR_946619.2:n.1215G>A, XR_946619.1:n.1217G>A, XM_011541307.3:c.1122G>A, XM_011541307.2:c.1122G>A, XM_011541307.1:c.1122G>A, XM_017001102.2:c.969G>A, XM_017001102.1:c.969G>A, XM_017001101.2:c.969G>A, XM_017001101.1:c.969G>A, XM_047418757.1:c.1122G>A, XM_047418756.1:c.1122G>A, XR_007059265.1:n.1212G>A

Select item 14901574332.

rs1490157433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:17232899 (GRCh38)
1:17559394 (GRCh37)
Canonical SPDI:: NC_000001.11:17232898:C:G
Gene:: PADI1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.17232899C>G, NC_000001.10:g.17559394C>G, NW_011332688.1:g.75413C>G, NM_013358.3:c.1242C>G, NM_013358.2:c.1242C>G, XM_017001103.3:c.1242C>G, XM_017001103.2:c.1242C>G, XM_017001103.1:c.1242C>G, XR_946619.3:n.1332C>G, XR_946619.2:n.1335C>G, XR_946619.1:n.1337C>G, XM_011541307.3:c.1242C>G, XM_011541307.2:c.1242C>G, XM_011541307.1:c.1242C>G, XM_017001102.2:c.1089C>G, XM_017001102.1:c.1089C>G, XM_017001101.2:c.1089C>G, XM_017001101.1:c.1089C>G, XM_047418757.1:c.1242C>G, XM_047418756.1:c.1242C>G, XR_007059265.1:n.1332C>G

Select item 14859040903.

rs1485904090 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:17222293 (GRCh38)
1:17548788 (GRCh37)
Canonical SPDI:: NC_000001.11:17222292:T:A,NC_000001.11:17222292:T:C
Gene:: PADI1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.17222293T>A, NC_000001.11:g.17222293T>C, NC_000001.10:g.17548788T>A, NC_000001.10:g.17548788T>C, NW_011332688.1:g.64807T>A, NW_011332688.1:g.64807T>C, NM_013358.3:c.96T>A, NM_013358.3:c.96T>C, NM_013358.2:c.96T>A, NM_013358.2:c.96T>C, XM_017001103.3:c.96T>A, XM_017001103.3:c.96T>C, XM_017001103.2:c.96T>A, XM_017001103.2:c.96T>C, XM_017001103.1:c.96T>A, XM_017001103.1:c.96T>C, XR_946619.3:n.186T>A, XR_946619.3:n.186T>C, XR_946619.2:n.189T>A, XR_946619.2:n.189T>C, XR_946619.1:n.191T>A, XR_946619.1:n.191T>C, XM_011541307.3:c.96T>A, XM_011541307.3:c.96T>C, XM_011541307.2:c.96T>A, XM_011541307.2:c.96T>C, XM_011541307.1:c.96T>A, XM_011541307.1:c.96T>C, XM_017001102.2:c.-58T>A, XM_017001102.2:c.-58T>C, XM_017001102.1:c.-58T>A, XM_017001102.1:c.-58T>C, XM_017001101.2:c.-58T>A, XM_017001101.2:c.-58T>C, XM_017001101.1:c.-58T>A, XM_017001101.1:c.-58T>C, XM_047418757.1:c.96T>A, XM_047418757.1:c.96T>C, XM_047418756.1:c.96T>A, XM_047418756.1:c.96T>C, XR_007059265.1:n.186T>A, XR_007059265.1:n.186T>C, NP_037490.2:p.Asp32Glu, XP_016856592.1:p.Asp32Glu, XP_011539609.1:p.Asp32Glu, XP_047274713.1:p.Asp32Glu, XP_047274712.1:p.Asp32Glu

Select item 14820095534.

rs1482009553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:17230140 (GRCh38)
1:17556635 (GRCh37)
Canonical SPDI:: NC_000001.11:17230139:A:G
Gene:: PADI1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17230140A>G, NC_000001.10:g.17556635A>G, NW_011332688.1:g.72654A>G, NM_013358.3:c.985A>G, NM_013358.2:c.985A>G, XM_017001103.3:c.985A>G, XM_017001103.2:c.985A>G, XM_017001103.1:c.985A>G, XR_946619.3:n.1075A>G, XR_946619.2:n.1078A>G, XR_946619.1:n.1080A>G, XM_011541307.3:c.985A>G, XM_011541307.2:c.985A>G, XM_011541307.1:c.985A>G, XM_017001102.2:c.832A>G, XM_017001102.1:c.832A>G, XM_017001101.2:c.832A>G, XM_017001101.1:c.832A>G, XM_047418757.1:c.985A>G, XM_047418756.1:c.985A>G, XR_007059265.1:n.1075A>G, NP_037490.2:p.Thr329Ala, XP_016856592.1:p.Thr329Ala, XP_011539609.1:p.Thr329Ala, XP_016856591.1:p.Thr278Ala, XP_016856590.1:p.Thr278Ala, XP_047274713.1:p.Thr329Ala, XP_047274712.1:p.Thr329Ala

Select item 14815540245.

rs1481554024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:17228660 (GRCh38)
1:17555155 (GRCh37)
Canonical SPDI:: NC_000001.11:17228659:G:T
Gene:: PADI1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17228660G>T, NC_000001.10:g.17555155G>T, NW_011332688.1:g.71174G>T, NM_013358.3:c.688G>T, NM_013358.2:c.688G>T, XM_017001103.3:c.688G>T, XM_017001103.2:c.688G>T, XM_017001103.1:c.688G>T, XR_946619.3:n.778G>T, XR_946619.2:n.781G>T, XR_946619.1:n.783G>T, XM_011541307.3:c.688G>T, XM_011541307.2:c.688G>T, XM_011541307.1:c.688G>T, XM_017001102.2:c.535G>T, XM_017001102.1:c.535G>T, XM_017001101.2:c.535G>T, XM_017001101.1:c.535G>T, XM_047418757.1:c.688G>T, XM_047418756.1:c.688G>T, XR_007059265.1:n.778G>T, NP_037490.2:p.Gly230Trp, XP_016856592.1:p.Gly230Trp, XP_011539609.1:p.Gly230Trp, XP_016856591.1:p.Gly179Trp, XP_016856590.1:p.Gly179Trp, XP_047274713.1:p.Gly230Trp, XP_047274712.1:p.Gly230Trp

Select item 14800846456.

rs1480084645 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:17232849 (GRCh38)
1:17559344 (GRCh37)
Canonical SPDI:: NC_000001.11:17232848:A:T
Gene:: PADI1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17232849A>T, NC_000001.10:g.17559344A>T, NW_011332688.1:g.75363A>T, NM_013358.3:c.1192A>T, NM_013358.2:c.1192A>T, XM_017001103.3:c.1192A>T, XM_017001103.2:c.1192A>T, XM_017001103.1:c.1192A>T, XR_946619.3:n.1282A>T, XR_946619.2:n.1285A>T, XR_946619.1:n.1287A>T, XM_011541307.3:c.1192A>T, XM_011541307.2:c.1192A>T, XM_011541307.1:c.1192A>T, XM_017001102.2:c.1039A>T, XM_017001102.1:c.1039A>T, XM_017001101.2:c.1039A>T, XM_017001101.1:c.1039A>T, XM_047418757.1:c.1192A>T, XM_047418756.1:c.1192A>T, XR_007059265.1:n.1282A>T, NP_037490.2:p.Ile398Phe, XP_016856592.1:p.Ile398Phe, XP_011539609.1:p.Ile398Phe, XP_016856591.1:p.Ile347Phe, XP_016856590.1:p.Ile347Phe, XP_047274713.1:p.Ile398Phe, XP_047274712.1:p.Ile398Phe

Select item 14776408757.

rs1477640875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:17229047 (GRCh38)
1:17555542 (GRCh37)
Canonical SPDI:: NC_000001.11:17229046:T:A,NC_000001.11:17229046:T:C
Gene:: PADI1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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.17229047T>A, NC_000001.11:g.17229047T>C, NC_000001.10:g.17555542T>A, NC_000001.10:g.17555542T>C, NW_011332688.1:g.71561T>A, NW_011332688.1:g.71561T>C, NM_013358.3:c.925T>A, NM_013358.3:c.925T>C, NM_013358.2:c.925T>A, NM_013358.2:c.925T>C, XM_017001103.3:c.925T>A, XM_017001103.3:c.925T>C, XM_017001103.2:c.925T>A, XM_017001103.2:c.925T>C, XM_017001103.1:c.925T>A, XM_017001103.1:c.925T>C, XR_946619.3:n.1015T>A, XR_946619.3:n.1015T>C, XR_946619.2:n.1018T>A, XR_946619.2:n.1018T>C, XR_946619.1:n.1020T>A, XR_946619.1:n.1020T>C, XM_011541307.3:c.925T>A, XM_011541307.3:c.925T>C, XM_011541307.2:c.925T>A, XM_011541307.2:c.925T>C, XM_011541307.1:c.925T>A, XM_011541307.1:c.925T>C, XM_017001102.2:c.772T>A, XM_017001102.2:c.772T>C, XM_017001102.1:c.772T>A, XM_017001102.1:c.772T>C, XM_017001101.2:c.772T>A, XM_017001101.2:c.772T>C, XM_017001101.1:c.772T>A, XM_017001101.1:c.772T>C, XM_047418757.1:c.925T>A, XM_047418757.1:c.925T>C, XM_047418756.1:c.925T>A, XM_047418756.1:c.925T>C, XR_007059265.1:n.1015T>A, XR_007059265.1:n.1015T>C, NP_037490.2:p.Cys309Ser, NP_037490.2:p.Cys309Arg, XP_016856592.1:p.Cys309Ser, XP_016856592.1:p.Cys309Arg, XP_011539609.1:p.Cys309Ser, XP_011539609.1:p.Cys309Arg, XP_016856591.1:p.Cys258Ser, XP_016856591.1:p.Cys258Arg, XP_016856590.1:p.Cys258Ser, XP_016856590.1:p.Cys258Arg, XP_047274713.1:p.Cys309Ser, XP_047274713.1:p.Cys309Arg, XP_047274712.1:p.Cys309Ser, XP_047274712.1:p.Cys309Arg

Select item 14715576088.

rs1471557608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:17228965 (GRCh38)
1:17555460 (GRCh37)
Canonical SPDI:: NC_000001.11:17228964:C:T
Gene:: PADI1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000001.11:g.17228965C>T, NC_000001.10:g.17555460C>T, NW_011332688.1:g.71479C>T, NM_013358.3:c.843C>T, NM_013358.2:c.843C>T, XM_017001103.3:c.843C>T, XM_017001103.2:c.843C>T, XM_017001103.1:c.843C>T, XR_946619.3:n.933C>T, XR_946619.2:n.936C>T, XR_946619.1:n.938C>T, XM_011541307.3:c.843C>T, XM_011541307.2:c.843C>T, XM_011541307.1:c.843C>T, XM_017001102.2:c.690C>T, XM_017001102.1:c.690C>T, XM_017001101.2:c.690C>T, XM_017001101.1:c.690C>T, XM_047418757.1:c.843C>T, XM_047418756.1:c.843C>T, XR_007059265.1:n.933C>T

Select item 14672367279.

rs1467236727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:17225848 (GRCh38)
1:17552343 (GRCh37)
Canonical SPDI:: NC_000001.11:17225847:T:G
Gene:: PADI1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17225848T>G, NC_000001.10:g.17552343T>G, NW_011332688.1:g.68362T>G, NM_013358.3:c.446T>G, NM_013358.2:c.446T>G, XM_017001103.3:c.446T>G, XM_017001103.2:c.446T>G, XM_017001103.1:c.446T>G, XR_946619.3:n.536T>G, XR_946619.2:n.539T>G, XR_946619.1:n.541T>G, XM_011541307.3:c.446T>G, XM_011541307.2:c.446T>G, XM_011541307.1:c.446T>G, XM_017001102.2:c.293T>G, XM_017001102.1:c.293T>G, XM_017001101.2:c.293T>G, XM_017001101.1:c.293T>G, XM_047418757.1:c.446T>G, XM_047418756.1:c.446T>G, XR_007059265.1:n.536T>G, NP_037490.2:p.Ile149Ser, XP_016856592.1:p.Ile149Ser, XP_011539609.1:p.Ile149Ser, XP_016856591.1:p.Ile98Ser, XP_016856590.1:p.Ile98Ser, XP_047274713.1:p.Ile149Ser, XP_047274712.1:p.Ile149Ser

Select item 146201823510.

rs1462018235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:17205295 (GRCh38)
1:17531790 (GRCh37)
Canonical SPDI:: NC_000001.11:17205294:T:C
Gene:: PADI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17205295T>C, NC_000001.10:g.17531790T>C, NW_011332688.1:g.47809T>C, NM_013358.3:c.78T>C, NM_013358.2:c.78T>C, XM_017001103.3:c.78T>C, XM_017001103.2:c.78T>C, XM_017001103.1:c.78T>C, XR_946619.3:n.168T>C, XR_946619.2:n.171T>C, XR_946619.1:n.173T>C, XM_011541307.3:c.78T>C, XM_011541307.2:c.78T>C, XM_011541307.1:c.78T>C, XM_047418757.1:c.78T>C, XM_047418756.1:c.78T>C, XR_007059265.1:n.168T>C

Select item 145558027411.

rs1455580274 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:17226111 (GRCh38)
1:17552606 (GRCh37)
Canonical SPDI:: NC_000001.11:17226110:A:T
Gene:: PADI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000001.11:g.17226111A>T, NC_000001.10:g.17552606A>T, NW_011332688.1:g.68625A>T, NM_013358.3:c.605A>T, NM_013358.2:c.605A>T, XM_017001103.3:c.605A>T, XM_017001103.2:c.605A>T, XM_017001103.1:c.605A>T, XR_946619.3:n.695A>T, XR_946619.2:n.698A>T, XR_946619.1:n.700A>T, XM_011541307.3:c.605A>T, XM_011541307.2:c.605A>T, XM_011541307.1:c.605A>T, XM_017001102.2:c.452A>T, XM_017001102.1:c.452A>T, XM_017001101.2:c.452A>T, XM_017001101.1:c.452A>T, XM_047418757.1:c.605A>T, XM_047418756.1:c.605A>T, XR_007059265.1:n.695A>T, NP_037490.2:p.Asn202Ile, XP_016856592.1:p.Asn202Ile, XP_011539609.1:p.Asn202Ile, XP_016856591.1:p.Asn151Ile, XP_016856590.1:p.Asn151Ile, XP_047274713.1:p.Asn202Ile, XP_047274712.1:p.Asn202Ile

Select item 145487589512.

rs1454875895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:17230117 (GRCh38)
1:17556612 (GRCh37)
Canonical SPDI:: NC_000001.11:17230116:T:A,NC_000001.11:17230116:T:C
Gene:: PADI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.17230117T>A, NC_000001.11:g.17230117T>C, NC_000001.10:g.17556612T>A, NC_000001.10:g.17556612T>C, NW_011332688.1:g.72631T>A, NW_011332688.1:g.72631T>C, NM_013358.3:c.962T>A, NM_013358.3:c.962T>C, NM_013358.2:c.962T>A, NM_013358.2:c.962T>C, XM_017001103.3:c.962T>A, XM_017001103.3:c.962T>C, XM_017001103.2:c.962T>A, XM_017001103.2:c.962T>C, XM_017001103.1:c.962T>A, XM_017001103.1:c.962T>C, XR_946619.3:n.1052T>A, XR_946619.3:n.1052T>C, XR_946619.2:n.1055T>A, XR_946619.2:n.1055T>C, XR_946619.1:n.1057T>A, XR_946619.1:n.1057T>C, XM_011541307.3:c.962T>A, XM_011541307.3:c.962T>C, XM_011541307.2:c.962T>A, XM_011541307.2:c.962T>C, XM_011541307.1:c.962T>A, XM_011541307.1:c.962T>C, XM_017001102.2:c.809T>A, XM_017001102.2:c.809T>C, XM_017001102.1:c.809T>A, XM_017001102.1:c.809T>C, XM_017001101.2:c.809T>A, XM_017001101.2:c.809T>C, XM_017001101.1:c.809T>A, XM_017001101.1:c.809T>C, XM_047418757.1:c.962T>A, XM_047418757.1:c.962T>C, XM_047418756.1:c.962T>A, XM_047418756.1:c.962T>C, XR_007059265.1:n.1052T>A, XR_007059265.1:n.1052T>C, NP_037490.2:p.Phe321Tyr, NP_037490.2:p.Phe321Ser, XP_016856592.1:p.Phe321Tyr, XP_016856592.1:p.Phe321Ser, XP_011539609.1:p.Phe321Tyr, XP_011539609.1:p.Phe321Ser, XP_016856591.1:p.Phe270Tyr, XP_016856591.1:p.Phe270Ser, XP_016856590.1:p.Phe270Tyr, XP_016856590.1:p.Phe270Ser, XP_047274713.1:p.Phe321Tyr, XP_047274713.1:p.Phe321Ser, XP_047274712.1:p.Phe321Tyr, XP_047274712.1:p.Phe321Ser

Select item 145188559113.

rs1451885591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:17226039 (GRCh38)
1:17552534 (GRCh37)
Canonical SPDI:: NC_000001.11:17226038:A:G
Gene:: PADI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.17226039A>G, NC_000001.10:g.17552534A>G, NW_011332688.1:g.68553A>G, NM_013358.3:c.533A>G, NM_013358.2:c.533A>G, XM_017001103.3:c.533A>G, XM_017001103.2:c.533A>G, XM_017001103.1:c.533A>G, XR_946619.3:n.623A>G, XR_946619.2:n.626A>G, XR_946619.1:n.628A>G, XM_011541307.3:c.533A>G, XM_011541307.2:c.533A>G, XM_011541307.1:c.533A>G, XM_017001102.2:c.380A>G, XM_017001102.1:c.380A>G, XM_017001101.2:c.380A>G, XM_017001101.1:c.380A>G, XM_047418757.1:c.533A>G, XM_047418756.1:c.533A>G, XR_007059265.1:n.623A>G, NP_037490.2:p.Gln178Arg, XP_016856592.1:p.Gln178Arg, XP_011539609.1:p.Gln178Arg, XP_016856591.1:p.Gln127Arg, XP_016856590.1:p.Gln127Arg, XP_047274713.1:p.Gln178Arg, XP_047274712.1:p.Gln178Arg

Select item 144959767314.

rs1449597673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:17223657 (GRCh38)
1:17550152 (GRCh37)
Canonical SPDI:: NC_000001.11:17223656:G:A
Gene:: PADI1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.17223657G>A, NC_000001.10:g.17550152G>A, NW_011332688.1:g.66171G>A, NM_013358.3:c.310G>A, NM_013358.2:c.310G>A, XM_017001103.3:c.310G>A, XM_017001103.2:c.310G>A, XM_017001103.1:c.310G>A, XR_946619.3:n.400G>A, XR_946619.2:n.403G>A, XR_946619.1:n.405G>A, XM_011541307.3:c.310G>A, XM_011541307.2:c.310G>A, XM_011541307.1:c.310G>A, XM_017001102.2:c.157G>A, XM_017001102.1:c.157G>A, XM_017001101.2:c.157G>A, XM_017001101.1:c.157G>A, XM_047418757.1:c.310G>A, XM_047418756.1:c.310G>A, XR_007059265.1:n.400G>A, NP_037490.2:p.Ala104Thr, XP_016856592.1:p.Ala104Thr, XP_011539609.1:p.Ala104Thr, XP_016856591.1:p.Ala53Thr, XP_016856590.1:p.Ala53Thr, XP_047274713.1:p.Ala104Thr, XP_047274712.1:p.Ala104Thr

Select item 144909270915.

rs1449092709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:17228672 (GRCh38)
1:17555167 (GRCh37)
Canonical SPDI:: NC_000001.11:17228671:C:G
Gene:: PADI1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17228672C>G, NC_000001.10:g.17555167C>G, NW_011332688.1:g.71186C>G, NM_013358.3:c.700C>G, NM_013358.2:c.700C>G, XM_017001103.3:c.700C>G, XM_017001103.2:c.700C>G, XM_017001103.1:c.700C>G, XR_946619.3:n.790C>G, XR_946619.2:n.793C>G, XR_946619.1:n.795C>G, XM_011541307.3:c.700C>G, XM_011541307.2:c.700C>G, XM_011541307.1:c.700C>G, XM_017001102.2:c.547C>G, XM_017001102.1:c.547C>G, XM_017001101.2:c.547C>G, XM_017001101.1:c.547C>G, XM_047418757.1:c.700C>G, XM_047418756.1:c.700C>G, XR_007059265.1:n.790C>G, NP_037490.2:p.Leu234Val, XP_016856592.1:p.Leu234Val, XP_011539609.1:p.Leu234Val, XP_016856591.1:p.Leu183Val, XP_016856590.1:p.Leu183Val, XP_047274713.1:p.Leu234Val, XP_047274712.1:p.Leu234Val

Select item 144891617116.

rs1448916171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:17232848 (GRCh38)
1:17559343 (GRCh37)
Canonical SPDI:: NC_000001.11:17232847:G:T
Gene:: PADI1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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.17232848G>T, NC_000001.10:g.17559343G>T, NW_011332688.1:g.75362G>T, NM_013358.3:c.1191G>T, NM_013358.2:c.1191G>T, XM_017001103.3:c.1191G>T, XM_017001103.2:c.1191G>T, XM_017001103.1:c.1191G>T, XR_946619.3:n.1281G>T, XR_946619.2:n.1284G>T, XR_946619.1:n.1286G>T, XM_011541307.3:c.1191G>T, XM_011541307.2:c.1191G>T, XM_011541307.1:c.1191G>T, XM_017001102.2:c.1038G>T, XM_017001102.1:c.1038G>T, XM_017001101.2:c.1038G>T, XM_017001101.1:c.1038G>T, XM_047418757.1:c.1191G>T, XM_047418756.1:c.1191G>T, XR_007059265.1:n.1281G>T, NP_037490.2:p.Glu397Asp, XP_016856592.1:p.Glu397Asp, XP_011539609.1:p.Glu397Asp, XP_016856591.1:p.Glu346Asp, XP_016856590.1:p.Glu346Asp, XP_047274713.1:p.Glu397Asp, XP_047274712.1:p.Glu397Asp

Select item 144721752617.

rs1447217526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:17229043 (GRCh38)
1:17555538 (GRCh37)
Canonical SPDI:: NC_000001.11:17229042:T:C
Gene:: PADI1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17229043T>C, NC_000001.10:g.17555538T>C, NW_011332688.1:g.71557T>C, NM_013358.3:c.921T>C, NM_013358.2:c.921T>C, XM_017001103.3:c.921T>C, XM_017001103.2:c.921T>C, XM_017001103.1:c.921T>C, XR_946619.3:n.1011T>C, XR_946619.2:n.1014T>C, XR_946619.1:n.1016T>C, XM_011541307.3:c.921T>C, XM_011541307.2:c.921T>C, XM_011541307.1:c.921T>C, XM_017001102.2:c.768T>C, XM_017001102.1:c.768T>C, XM_017001101.2:c.768T>C, XM_017001101.1:c.768T>C, XM_047418757.1:c.921T>C, XM_047418756.1:c.921T>C, XR_007059265.1:n.1011T>C

Select item 144679251618.

rs1446792516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:17223634 (GRCh38)
1:17550129 (GRCh37)
Canonical SPDI:: NC_000001.11:17223633:A:G
Gene:: PADI1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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.17223634A>G, NC_000001.10:g.17550129A>G, NW_011332688.1:g.66148A>G, NM_013358.3:c.287A>G, NM_013358.2:c.287A>G, XM_017001103.3:c.287A>G, XM_017001103.2:c.287A>G, XM_017001103.1:c.287A>G, XR_946619.3:n.377A>G, XR_946619.2:n.380A>G, XR_946619.1:n.382A>G, XM_011541307.3:c.287A>G, XM_011541307.2:c.287A>G, XM_011541307.1:c.287A>G, XM_017001102.2:c.134A>G, XM_017001102.1:c.134A>G, XM_017001101.2:c.134A>G, XM_017001101.1:c.134A>G, XM_047418757.1:c.287A>G, XM_047418756.1:c.287A>G, XR_007059265.1:n.377A>G, NP_037490.2:p.Tyr96Cys, XP_016856592.1:p.Tyr96Cys, XP_011539609.1:p.Tyr96Cys, XP_016856591.1:p.Tyr45Cys, XP_016856590.1:p.Tyr45Cys, XP_047274713.1:p.Tyr96Cys, XP_047274712.1:p.Tyr96Cys

Select item 144609471719.

rs1446094717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:17228975 (GRCh38)
1:17555470 (GRCh37)
Canonical SPDI:: NC_000001.11:17228974:G:A
Gene:: PADI1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17228975G>A, NC_000001.10:g.17555470G>A, NW_011332688.1:g.71489G>A, NM_013358.3:c.853G>A, NM_013358.2:c.853G>A, XM_017001103.3:c.853G>A, XM_017001103.2:c.853G>A, XM_017001103.1:c.853G>A, XR_946619.3:n.943G>A, XR_946619.2:n.946G>A, XR_946619.1:n.948G>A, XM_011541307.3:c.853G>A, XM_011541307.2:c.853G>A, XM_011541307.1:c.853G>A, XM_017001102.2:c.700G>A, XM_017001102.1:c.700G>A, XM_017001101.2:c.700G>A, XM_017001101.1:c.700G>A, XM_047418757.1:c.853G>A, XM_047418756.1:c.853G>A, XR_007059265.1:n.943G>A, NP_037490.2:p.Asp285Asn, XP_016856592.1:p.Asp285Asn, XP_011539609.1:p.Asp285Asn, XP_016856591.1:p.Asp234Asn, XP_016856590.1:p.Asp234Asn, XP_047274713.1:p.Asp285Asn, XP_047274712.1:p.Asp285Asn

Select item 144571623120.

rs1445716231 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:17223650 (GRCh38)
1:17550145 (GRCh37)
Canonical SPDI:: NC_000001.11:17223649:A:C
Gene:: PADI1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17223650A>C, NC_000001.10:g.17550145A>C, NW_011332688.1:g.66164A>C, NM_013358.3:c.303A>C, NM_013358.2:c.303A>C, XM_017001103.3:c.303A>C, XM_017001103.2:c.303A>C, XM_017001103.1:c.303A>C, XR_946619.3:n.393A>C, XR_946619.2:n.396A>C, XR_946619.1:n.398A>C, XM_011541307.3:c.303A>C, XM_011541307.2:c.303A>C, XM_011541307.1:c.303A>C, XM_017001102.2:c.150A>C, XM_017001102.1:c.150A>C, XM_017001101.2:c.150A>C, XM_017001101.1:c.150A>C, XM_047418757.1:c.303A>C, XM_047418756.1:c.303A>C, XR_007059265.1:n.393A>C, NP_037490.2:p.Glu101Asp, XP_016856592.1:p.Glu101Asp, XP_011539609.1:p.Glu101Asp, XP_016856591.1:p.Glu50Asp, XP_016856590.1:p.Glu50Asp, XP_047274713.1:p.Glu101Asp, XP_047274712.1:p.Glu101Asp

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dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 564

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