SNP Links for Protein (Select 767903700) - SNP

Links from Protein

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Select item 14873528111.

rs1487352811 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:113871543 (GRCh38)
1:114414165 (GRCh37)
Canonical SPDI:: NC_000001.11:113871542:T:C
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.113871543T>C, NC_000001.10:g.114414165T>C, NG_011432.1:g.5211A>G, NM_015967.8:c.81A>G, NM_015967.7:c.81A>G, NM_015967.6:c.81A>G, NM_015967.5:c.81A>G, NM_012411.5:c.81A>G, NM_012411.4:c.81A>G, NM_001193431.2:c.81A>G, NM_001193431.1:c.81A>G, NM_001308297.1:c.81A>G, XM_011541223.3:c.81A>G, XM_011541223.2:c.81A>G, XM_011541223.1:c.81A>G, XM_011541225.3:c.81A>G, XM_011541225.2:c.81A>G, XM_011541225.1:c.81A>G, XM_011541222.2:c.81A>G, XM_011541222.1:c.81A>G, XM_011541221.2:c.81A>G, XM_011541221.1:c.81A>G, XM_017001006.2:c.81A>G, XM_017001006.1:c.81A>G, XM_047417630.1:c.81A>G, XM_047417631.1:c.81A>G, XM_047417632.1:c.81A>G

Select item 14851545692.

rs1485154569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:113838249 (GRCh38)
1:114380871 (GRCh37)
Canonical SPDI:: NC_000001.11:113838248:T:A
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113838249T>A, NC_000001.10:g.114380871T>A, NG_011432.1:g.38505A>T, NM_015967.8:c.1151A>T, NM_015967.7:c.1151A>T, NM_015967.6:c.1151A>T, NM_015967.5:c.1151A>T, NM_012411.5:c.986A>T, NM_012411.4:c.986A>T, NM_001193431.2:c.1151A>T, NM_001193431.1:c.1151A>T, NM_001308297.1:c.1079A>T, XM_011541223.3:c.1151A>T, XM_011541223.2:c.1151A>T, XM_011541223.1:c.1151A>T, XM_011541225.3:c.1079A>T, XM_011541225.2:c.1079A>T, XM_011541225.1:c.1079A>T, XM_017001005.3:c.806A>T, XM_017001005.2:c.806A>T, XM_017001005.1:c.806A>T, XM_011541222.2:c.1151A>T, XM_011541222.1:c.1151A>T, XM_011541221.2:c.1073A>T, XM_011541221.1:c.1073A>T, XM_047417630.1:c.1001A>T, XM_047417631.1:c.1079A>T, XM_047417632.1:c.1073A>T, NP_057051.4:p.Asn384Ile, NP_036543.4:p.Asn329Ile, NP_001180360.1:p.Asn384Ile, NP_001295226.1:p.Asn360Ile, XP_011539525.1:p.Asn384Ile, XP_011539527.1:p.Asn360Ile, XP_016856494.1:p.Asn269Ile, XP_011539524.1:p.Asn384Ile, XP_011539523.1:p.Asn358Ile, XP_047273586.1:p.Asn334Ile, XP_047273587.1:p.Asn360Ile, XP_047273588.1:p.Asn358Ile

Select item 14845269003.

rs1484526900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:113829699 (GRCh38)
1:114372321 (GRCh37)
Canonical SPDI:: NC_000001.11:113829698:C:A
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.113829699C>A, NC_000001.10:g.114372321C>A, NG_011432.1:g.47055G>T, NM_015967.8:c.2143G>T, NM_015967.7:c.2143G>T, NM_015967.6:c.2143G>T, NM_015967.5:c.2143G>T, NM_012411.5:c.1978G>T, NM_012411.4:c.1978G>T, NM_001193431.2:c.2059G>T, NM_001193431.1:c.2059G>T, NM_001308297.1:c.2071G>T, XM_011541225.3:c.2071G>T, XM_011541225.2:c.2071G>T, XM_011541225.1:c.2071G>T, XM_017001005.3:c.1798G>T, XM_017001005.2:c.1798G>T, XM_017001005.1:c.1798G>T, XM_011541222.2:c.2143G>T, XM_011541222.1:c.2143G>T, XM_011541221.2:c.2065G>T, XM_011541221.1:c.2065G>T, XM_047417630.1:c.1993G>T, XM_047417631.1:c.1987G>T, XM_047417632.1:c.1981G>T, NP_057051.4:p.Ala715Ser, NP_036543.4:p.Ala660Ser, NP_001180360.1:p.Ala687Ser, NP_001295226.1:p.Ala691Ser, XP_011539527.1:p.Ala691Ser, XP_016856494.1:p.Ala600Ser, XP_011539524.1:p.Ala715Ser, XP_011539523.1:p.Ala689Ser, XP_047273586.1:p.Ala665Ser, XP_047273587.1:p.Ala663Ser, XP_047273588.1:p.Ala661Ser

Select item 14829736164.

rs1482973616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:113829989 (GRCh38)
1:114372611 (GRCh37)
Canonical SPDI:: NC_000001.11:113829988:T:C
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113829989T>C, NC_000001.10:g.114372611T>C, NG_011432.1:g.46765A>G, NM_015967.8:c.2094A>G, NM_015967.7:c.2094A>G, NM_015967.6:c.2094A>G, NM_015967.5:c.2094A>G, NM_012411.5:c.1929A>G, NM_012411.4:c.1929A>G, NM_001193431.2:c.2010A>G, NM_001193431.1:c.2010A>G, NM_001308297.1:c.2022A>G, XM_011541225.3:c.2022A>G, XM_011541225.2:c.2022A>G, XM_011541225.1:c.2022A>G, XM_017001005.3:c.1749A>G, XM_017001005.2:c.1749A>G, XM_017001005.1:c.1749A>G, XM_011541222.2:c.2094A>G, XM_011541222.1:c.2094A>G, XM_011541221.2:c.2016A>G, XM_011541221.1:c.2016A>G, XM_047417630.1:c.1944A>G, XM_047417631.1:c.1938A>G, XM_047417632.1:c.1932A>G

Select item 14756732215.

rs1475673221 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:113829704 (GRCh38)
1:114372326 (GRCh37)
Canonical SPDI:: NC_000001.11:113829703:A:G,NC_000001.11:113829703:A:T
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.113829704A>G, NC_000001.11:g.113829704A>T, NC_000001.10:g.114372326A>G, NC_000001.10:g.114372326A>T, NG_011432.1:g.47050T>C, NG_011432.1:g.47050T>A, NM_015967.8:c.2138T>C, NM_015967.8:c.2138T>A, NM_015967.7:c.2138T>C, NM_015967.7:c.2138T>A, NM_015967.6:c.2138T>C, NM_015967.6:c.2138T>A, NM_015967.5:c.2138T>C, NM_015967.5:c.2138T>A, NM_012411.5:c.1973T>C, NM_012411.5:c.1973T>A, NM_012411.4:c.1973T>C, NM_012411.4:c.1973T>A, NM_001193431.2:c.2054T>C, NM_001193431.2:c.2054T>A, NM_001193431.1:c.2054T>C, NM_001193431.1:c.2054T>A, NM_001308297.1:c.2066T>C, NM_001308297.1:c.2066T>A, XM_011541225.3:c.2066T>C, XM_011541225.3:c.2066T>A, XM_011541225.2:c.2066T>C, XM_011541225.2:c.2066T>A, XM_011541225.1:c.2066T>C, XM_011541225.1:c.2066T>A, XM_017001005.3:c.1793T>C, XM_017001005.3:c.1793T>A, XM_017001005.2:c.1793T>C, XM_017001005.2:c.1793T>A, XM_017001005.1:c.1793T>C, XM_017001005.1:c.1793T>A, XM_011541222.2:c.2138T>C, XM_011541222.2:c.2138T>A, XM_011541222.1:c.2138T>C, XM_011541222.1:c.2138T>A, XM_011541221.2:c.2060T>C, XM_011541221.2:c.2060T>A, XM_011541221.1:c.2060T>C, XM_011541221.1:c.2060T>A, XM_047417630.1:c.1988T>C, XM_047417630.1:c.1988T>A, XM_047417631.1:c.1982T>C, XM_047417631.1:c.1982T>A, XM_047417632.1:c.1976T>C, XM_047417632.1:c.1976T>A, NP_057051.4:p.Met713Thr, NP_057051.4:p.Met713Lys, NP_036543.4:p.Met658Thr, NP_036543.4:p.Met658Lys, NP_001180360.1:p.Met685Thr, NP_001180360.1:p.Met685Lys, NP_001295226.1:p.Met689Thr, NP_001295226.1:p.Met689Lys, XP_011539527.1:p.Met689Thr, XP_011539527.1:p.Met689Lys, XP_016856494.1:p.Met598Thr, XP_016856494.1:p.Met598Lys, XP_011539524.1:p.Met713Thr, XP_011539524.1:p.Met713Lys, XP_011539523.1:p.Met687Thr, XP_011539523.1:p.Met687Lys, XP_047273586.1:p.Met663Thr, XP_047273586.1:p.Met663Lys, XP_047273587.1:p.Met661Thr, XP_047273587.1:p.Met661Lys, XP_047273588.1:p.Met659Thr, XP_047273588.1:p.Met659Lys

Select item 14751193356.

rs1475119335 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTGATAACATC>- [Show Flanks]
Chromosome:: 1:113848561 (GRCh38)
1:114391183 (GRCh37)
Canonical SPDI:: NC_000001.11:113848557:ATCTCTGATAACATC:ATC
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,inframe_deletion,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.113848561_113848572del, NC_000001.10:g.114391183_114391194del, NG_011432.1:g.28185_28196del, NM_015967.8:c.886_897del, NM_015967.7:c.886_897del, NM_015967.6:c.886_897del, NM_015967.5:c.886_897del, NM_001193431.2:c.886_897del, NM_001193431.1:c.886_897del, NM_001308297.1:c.814_825del, XM_011541223.3:c.886_897del, XM_011541223.2:c.886_897del, XM_011541223.1:c.886_897del, XM_011541225.3:c.814_825del, XM_011541225.2:c.814_825del, XM_011541225.1:c.814_825del, XM_017001005.3:c.541_552del, XM_017001005.2:c.541_552del, XM_017001005.1:c.541_552del, XM_011541222.2:c.886_897del, XM_011541222.1:c.886_897del, XM_011541221.2:c.808_819del, XM_011541221.1:c.808_819del, XM_017001006.2:c.886_897del, XM_017001006.1:c.886_897del, XM_047417630.1:c.736_747del, XM_047417631.1:c.814_825del, XM_047417632.1:c.808_819del, NP_057051.4:p.Val296_Asp299del, NP_001180360.1:p.Val296_Asp299del, NP_001295226.1:p.Val272_Asp275del, XP_011539525.1:p.Val296_Asp299del, XP_011539527.1:p.Val272_Asp275del, XP_016856494.1:p.Val181_Asp184del, XP_011539524.1:p.Val296_Asp299del, XP_011539523.1:p.Val270_Asp273del, XP_016856495.1:p.Val296_Asp299del, XP_047273586.1:p.Val246_Asp249del, XP_047273587.1:p.Val272_Asp275del, XP_047273588.1:p.Val270_Asp273del

Select item 14730491897.

rs1473049189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:113834981 (GRCh38)
1:114377603 (GRCh37)
Canonical SPDI:: NC_000001.11:113834980:C:T
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
HGVS:: NC_000001.11:g.113834981C>T, NC_000001.10:g.114377603C>T, NG_011432.1:g.41773G>A, NM_015967.8:c.1823G>A, NM_015967.7:c.1823G>A, NM_015967.6:c.1823G>A, NM_015967.5:c.1823G>A, NM_012411.5:c.1658G>A, NM_012411.4:c.1658G>A, NM_001193431.2:c.1823G>A, NM_001193431.1:c.1823G>A, NM_001308297.1:c.1751G>A, XM_011541223.3:c.1823G>A, XM_011541223.2:c.1823G>A, XM_011541223.1:c.1823G>A, XM_011541225.3:c.1751G>A, XM_011541225.2:c.1751G>A, XM_011541225.1:c.1751G>A, XM_017001005.3:c.1478G>A, XM_017001005.2:c.1478G>A, XM_017001005.1:c.1478G>A, XM_011541222.2:c.1823G>A, XM_011541222.1:c.1823G>A, XM_011541221.2:c.1745G>A, XM_011541221.1:c.1745G>A, XM_047417630.1:c.1673G>A, XM_047417631.1:c.1751G>A, XM_047417632.1:c.1745G>A, NP_057051.4:p.Arg608Lys, NP_036543.4:p.Arg553Lys, NP_001180360.1:p.Arg608Lys, NP_001295226.1:p.Arg584Lys, XP_011539525.1:p.Arg608Lys, XP_011539527.1:p.Arg584Lys, XP_016856494.1:p.Arg493Lys, XP_011539524.1:p.Arg608Lys, XP_011539523.1:p.Arg582Lys, XP_047273586.1:p.Arg558Lys, XP_047273587.1:p.Arg584Lys, XP_047273588.1:p.Arg582Lys

Select item 14729877848.

rs1472987784 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:113838275 (GRCh38)
1:114380897 (GRCh37)
Canonical SPDI:: NC_000001.11:113838274:G:A
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113838275G>A, NC_000001.10:g.114380897G>A, NG_011432.1:g.38479C>T, NM_015967.8:c.1125C>T, NM_015967.7:c.1125C>T, NM_015967.6:c.1125C>T, NM_015967.5:c.1125C>T, NM_012411.5:c.960C>T, NM_012411.4:c.960C>T, NM_001193431.2:c.1125C>T, NM_001193431.1:c.1125C>T, NM_001308297.1:c.1053C>T, XM_011541223.3:c.1125C>T, XM_011541223.2:c.1125C>T, XM_011541223.1:c.1125C>T, XM_011541225.3:c.1053C>T, XM_011541225.2:c.1053C>T, XM_011541225.1:c.1053C>T, XM_017001005.3:c.780C>T, XM_017001005.2:c.780C>T, XM_017001005.1:c.780C>T, XM_011541222.2:c.1125C>T, XM_011541222.1:c.1125C>T, XM_011541221.2:c.1047C>T, XM_011541221.1:c.1047C>T, XM_047417630.1:c.975C>T, XM_047417631.1:c.1053C>T, XM_047417632.1:c.1047C>T

Select item 14714088739.

rs1471408873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:113856551 (GRCh38)
1:114399173 (GRCh37)
Canonical SPDI:: NC_000001.11:113856550:G:A
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000071/2 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.113856551G>A, NC_000001.10:g.114399173G>A, NG_011432.1:g.20203C>T, NM_015967.8:c.477C>T, NM_015967.7:c.477C>T, NM_015967.6:c.477C>T, NM_015967.5:c.477C>T, NM_012411.5:c.477C>T, NM_012411.4:c.477C>T, NM_001193431.2:c.477C>T, NM_001193431.1:c.477C>T, XM_011541223.3:c.477C>T, XM_011541223.2:c.477C>T, XM_011541223.1:c.477C>T, XM_017001005.3:c.132C>T, XM_017001005.2:c.132C>T, XM_017001005.1:c.132C>T, XM_011541222.2:c.477C>T, XM_011541222.1:c.477C>T, XM_011541221.2:c.477C>T, XM_011541221.1:c.477C>T, XM_017001006.2:c.477C>T, XM_017001006.1:c.477C>T, XM_047417632.1:c.477C>T

Select item 147117149110.

rs1471171491 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:113838201 (GRCh38)
1:114380823 (GRCh37)
Canonical SPDI:: NC_000001.11:113838200:TTT:TT
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.113838203del, NC_000001.10:g.114380825del, NG_011432.1:g.38553del, NM_015967.8:c.1199del, NM_015967.7:c.1199del, NM_015967.6:c.1199del, NM_015967.5:c.1199del, NM_012411.5:c.1034del, NM_012411.4:c.1034del, NM_001193431.2:c.1199del, NM_001193431.1:c.1199del, NM_001308297.1:c.1127del, XM_011541223.3:c.1199del, XM_011541223.2:c.1199del, XM_011541223.1:c.1199del, XM_011541225.3:c.1127del, XM_011541225.2:c.1127del, XM_011541225.1:c.1127del, XM_017001005.3:c.854del, XM_017001005.2:c.854del, XM_017001005.1:c.854del, XM_011541222.2:c.1199del, XM_011541222.1:c.1199del, XM_011541221.2:c.1121del, XM_011541221.1:c.1121del, XM_047417630.1:c.1049del, XM_047417631.1:c.1127del, XM_047417632.1:c.1121del, NP_057051.4:p.Lys400fs, NP_036543.4:p.Lys345fs, NP_001180360.1:p.Lys400fs, NP_001295226.1:p.Lys376fs, XP_011539525.1:p.Lys400fs, XP_011539527.1:p.Lys376fs, XP_016856494.1:p.Lys285fs, XP_011539524.1:p.Lys400fs, XP_011539523.1:p.Lys374fs, XP_047273586.1:p.Lys350fs, XP_047273587.1:p.Lys376fs, XP_047273588.1:p.Lys374fs

Select item 146978107611.

rs1469781076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:113837606 (GRCh38)
1:114380228 (GRCh37)
Canonical SPDI:: NC_000001.11:113837605:C:G
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113837606C>G, NC_000001.10:g.114380228C>G, NG_011432.1:g.39148G>C, NM_015967.8:c.1794G>C, NM_015967.7:c.1794G>C, NM_015967.6:c.1794G>C, NM_015967.5:c.1794G>C, NM_012411.5:c.1629G>C, NM_012411.4:c.1629G>C, NM_001193431.2:c.1794G>C, NM_001193431.1:c.1794G>C, NM_001308297.1:c.1722G>C, XM_011541223.3:c.1794G>C, XM_011541223.2:c.1794G>C, XM_011541223.1:c.1794G>C, XM_011541225.3:c.1722G>C, XM_011541225.2:c.1722G>C, XM_011541225.1:c.1722G>C, XM_017001005.3:c.1449G>C, XM_017001005.2:c.1449G>C, XM_017001005.1:c.1449G>C, XM_011541222.2:c.1794G>C, XM_011541222.1:c.1794G>C, XM_011541221.2:c.1716G>C, XM_011541221.1:c.1716G>C, XM_047417630.1:c.1644G>C, XM_047417631.1:c.1722G>C, XM_047417632.1:c.1716G>C, NP_057051.4:p.Gln598His, NP_036543.4:p.Gln543His, NP_001180360.1:p.Gln598His, NP_001295226.1:p.Gln574His, XP_011539525.1:p.Gln598His, XP_011539527.1:p.Gln574His, XP_016856494.1:p.Gln483His, XP_011539524.1:p.Gln598His, XP_011539523.1:p.Gln572His, XP_047273586.1:p.Gln548His, XP_047273587.1:p.Gln574His, XP_047273588.1:p.Gln572His

Select item 146806821212.

rs1468068212 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:113837660 (GRCh38)
1:114380282 (GRCh37)
Canonical SPDI:: NC_000001.11:113837659:T:
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.113837660del, NC_000001.10:g.114380282del, NG_011432.1:g.39094del, NM_015967.8:c.1740del, NM_015967.7:c.1740del, NM_015967.6:c.1740del, NM_015967.5:c.1740del, NM_012411.5:c.1575del, NM_012411.4:c.1575del, NM_001193431.2:c.1740del, NM_001193431.1:c.1740del, NM_001308297.1:c.1668del, XM_011541223.3:c.1740del, XM_011541223.2:c.1740del, XM_011541223.1:c.1740del, XM_011541225.3:c.1668del, XM_011541225.2:c.1668del, XM_011541225.1:c.1668del, XM_017001005.3:c.1395del, XM_017001005.2:c.1395del, XM_017001005.1:c.1395del, XM_011541222.2:c.1740del, XM_011541222.1:c.1740del, XM_011541221.2:c.1662del, XM_011541221.1:c.1662del, XM_047417630.1:c.1590del, XM_047417631.1:c.1668del, XM_047417632.1:c.1662del, NP_057051.4:p.His581fs, NP_036543.4:p.His526fs, NP_001180360.1:p.His581fs, NP_001295226.1:p.His557fs, XP_011539525.1:p.His581fs, XP_011539527.1:p.His557fs, XP_016856494.1:p.His466fs, XP_011539524.1:p.His581fs, XP_011539523.1:p.His555fs, XP_047273586.1:p.His531fs, XP_047273587.1:p.His557fs, XP_047273588.1:p.His555fs

Select item 146725555413.

rs1467255554 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:113837912 (GRCh38)
1:114380534 (GRCh37)
Canonical SPDI:: NC_000001.11:113837911:T:G
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.113837912T>G, NC_000001.10:g.114380534T>G, NG_011432.1:g.38842A>C, NM_015967.8:c.1488A>C, NM_015967.7:c.1488A>C, NM_015967.6:c.1488A>C, NM_015967.5:c.1488A>C, NM_012411.5:c.1323A>C, NM_012411.4:c.1323A>C, NM_001193431.2:c.1488A>C, NM_001193431.1:c.1488A>C, NM_001308297.1:c.1416A>C, XM_011541223.3:c.1488A>C, XM_011541223.2:c.1488A>C, XM_011541223.1:c.1488A>C, XM_011541225.3:c.1416A>C, XM_011541225.2:c.1416A>C, XM_011541225.1:c.1416A>C, XM_017001005.3:c.1143A>C, XM_017001005.2:c.1143A>C, XM_017001005.1:c.1143A>C, XM_011541222.2:c.1488A>C, XM_011541222.1:c.1488A>C, XM_011541221.2:c.1410A>C, XM_011541221.1:c.1410A>C, XM_047417630.1:c.1338A>C, XM_047417631.1:c.1416A>C, XM_047417632.1:c.1410A>C, NP_057051.4:p.Glu496Asp, NP_036543.4:p.Glu441Asp, NP_001180360.1:p.Glu496Asp, NP_001295226.1:p.Glu472Asp, XP_011539525.1:p.Glu496Asp, XP_011539527.1:p.Glu472Asp, XP_016856494.1:p.Glu381Asp, XP_011539524.1:p.Glu496Asp, XP_011539523.1:p.Glu470Asp, XP_047273586.1:p.Glu446Asp, XP_047273587.1:p.Glu472Asp, XP_047273588.1:p.Glu470Asp

Select item 146718257914.

rs1467182579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:113838568 (GRCh38)
1:114381190 (GRCh37)
Canonical SPDI:: NC_000001.11:113838567:G:A
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113838568G>A, NC_000001.10:g.114381190G>A, NG_011432.1:g.38186C>T, NM_015967.8:c.968C>T, NM_015967.7:c.968C>T, NM_015967.6:c.968C>T, NM_015967.5:c.968C>T, NM_012411.5:c.803C>T, NM_012411.4:c.803C>T, NM_001193431.2:c.968C>T, NM_001193431.1:c.968C>T, NM_001308297.1:c.896C>T, XM_011541223.3:c.968C>T, XM_011541223.2:c.968C>T, XM_011541223.1:c.968C>T, XM_011541225.3:c.896C>T, XM_011541225.2:c.896C>T, XM_011541225.1:c.896C>T, XM_017001005.3:c.623C>T, XM_017001005.2:c.623C>T, XM_017001005.1:c.623C>T, XM_011541222.2:c.968C>T, XM_011541222.1:c.968C>T, XM_011541221.2:c.890C>T, XM_011541221.1:c.890C>T, XM_047417630.1:c.818C>T, XM_047417631.1:c.896C>T, XM_047417632.1:c.890C>T, NP_057051.4:p.Ser323Phe, NP_036543.4:p.Ser268Phe, NP_001180360.1:p.Ser323Phe, NP_001295226.1:p.Ser299Phe, XP_011539525.1:p.Ser323Phe, XP_011539527.1:p.Ser299Phe, XP_016856494.1:p.Ser208Phe, XP_011539524.1:p.Ser323Phe, XP_011539523.1:p.Ser297Phe, XP_047273586.1:p.Ser273Phe, XP_047273587.1:p.Ser299Phe, XP_047273588.1:p.Ser297Phe

Select item 146671107515.

rs1466711075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:113859013 (GRCh38)
1:114401635 (GRCh37)
Canonical SPDI:: NC_000001.11:113859012:T:C
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113859013T>C, NC_000001.10:g.114401635T>C, NG_011432.1:g.17741A>G, NM_015967.8:c.262A>G, NM_015967.7:c.262A>G, NM_015967.6:c.262A>G, NM_015967.5:c.262A>G, NM_012411.5:c.262A>G, NM_012411.4:c.262A>G, NM_001193431.2:c.262A>G, NM_001193431.1:c.262A>G, NM_001308297.1:c.262A>G, XM_011541223.3:c.262A>G, XM_011541223.2:c.262A>G, XM_011541223.1:c.262A>G, XM_011541225.3:c.262A>G, XM_011541225.2:c.262A>G, XM_011541225.1:c.262A>G, XM_017001005.3:c.-84A>G, XM_017001005.2:c.-84A>G, XM_017001005.1:c.-84A>G, XM_011541222.2:c.262A>G, XM_011541222.1:c.262A>G, XM_011541221.2:c.262A>G, XM_011541221.1:c.262A>G, XM_017001006.2:c.262A>G, XM_017001006.1:c.262A>G, XM_047417630.1:c.262A>G, XM_047417631.1:c.262A>G, XM_047417632.1:c.262A>G, NP_057051.4:p.Asn88Asp, NP_036543.4:p.Asn88Asp, NP_001180360.1:p.Asn88Asp, NP_001295226.1:p.Asn88Asp, XP_011539525.1:p.Asn88Asp, XP_011539527.1:p.Asn88Asp, XP_011539524.1:p.Asn88Asp, XP_011539523.1:p.Asn88Asp, XP_016856495.1:p.Asn88Asp, XP_047273586.1:p.Asn88Asp, XP_047273587.1:p.Asn88Asp, XP_047273588.1:p.Asn88Asp

Select item 146494591816.

rs1464945918 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCAAACTTTGATGCTTCT>- [Show Flanks]
Chromosome:: 1:113838154 (GRCh38)
1:114380776 (GRCh37)
Canonical SPDI:: NC_000001.11:113838152:TCCAAACTTTGATGCTTCT:T
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: inframe_indel,genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000021/3 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.113838154_113838171del, NC_000001.10:g.114380776_114380793del, NG_011432.1:g.38584_38601del, NM_015967.8:c.1230_1247del, NM_015967.7:c.1230_1247del, NM_015967.6:c.1230_1247del, NM_015967.5:c.1230_1247del, NM_012411.5:c.1065_1082del, NM_012411.4:c.1065_1082del, NM_001193431.2:c.1230_1247del, NM_001193431.1:c.1230_1247del, NM_001308297.1:c.1158_1175del, XM_011541223.3:c.1230_1247del, XM_011541223.2:c.1230_1247del, XM_011541223.1:c.1230_1247del, XM_011541225.3:c.1158_1175del, XM_011541225.2:c.1158_1175del, XM_011541225.1:c.1158_1175del, XM_017001005.3:c.885_902del, XM_017001005.2:c.885_902del, XM_017001005.1:c.885_902del, XM_011541222.2:c.1230_1247del, XM_011541222.1:c.1230_1247del, XM_011541221.2:c.1152_1169del, XM_011541221.1:c.1152_1169del, XM_047417630.1:c.1080_1097del, XM_047417631.1:c.1158_1175del, XM_047417632.1:c.1152_1169del, NP_057051.4:p.Gln410_Asp416delinsHis, NP_036543.4:p.Gln355_Asp361delinsHis, NP_001180360.1:p.Gln410_Asp416delinsHis, NP_001295226.1:p.Gln386_Asp392delinsHis, XP_011539525.1:p.Gln410_Asp416delinsHis, XP_011539527.1:p.Gln386_Asp392delinsHis, XP_016856494.1:p.Gln295_Asp301delinsHis, XP_011539524.1:p.Gln410_Asp416delinsHis, XP_011539523.1:p.Gln384_Asp390delinsHis, XP_047273586.1:p.Gln360_Asp366delinsHis, XP_047273587.1:p.Gln386_Asp392delinsHis, XP_047273588.1:p.Gln384_Asp390delinsHis

Select item 146410647617.

rs1464106476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:113829606 (GRCh38)
1:114372228 (GRCh37)
Canonical SPDI:: NC_000001.11:113829605:A:G
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113829606A>G, NC_000001.10:g.114372228A>G, NG_011432.1:g.47148T>C, NM_015967.8:c.2236T>C, NM_015967.7:c.2236T>C, NM_015967.6:c.2236T>C, NM_015967.5:c.2236T>C, NM_012411.5:c.2071T>C, NM_012411.4:c.2071T>C, NM_001193431.2:c.2152T>C, NM_001193431.1:c.2152T>C, NM_001308297.1:c.2164T>C, XM_011541225.3:c.2164T>C, XM_011541225.2:c.2164T>C, XM_011541225.1:c.2164T>C, XM_017001005.3:c.1891T>C, XM_017001005.2:c.1891T>C, XM_017001005.1:c.1891T>C, XM_011541222.2:c.2236T>C, XM_011541222.1:c.2236T>C, XM_011541221.2:c.2158T>C, XM_011541221.1:c.2158T>C, XM_047417630.1:c.2086T>C, XM_047417631.1:c.2080T>C, XM_047417632.1:c.2074T>C, NP_057051.4:p.Phe746Leu, NP_036543.4:p.Phe691Leu, NP_001180360.1:p.Phe718Leu, NP_001295226.1:p.Phe722Leu, XP_011539527.1:p.Phe722Leu, XP_016856494.1:p.Phe631Leu, XP_011539524.1:p.Phe746Leu, XP_011539523.1:p.Phe720Leu, XP_047273586.1:p.Phe696Leu, XP_047273587.1:p.Phe694Leu, XP_047273588.1:p.Phe692Leu

Select item 146309658118.

rs1463096581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:113854953 (GRCh38)
1:114397575 (GRCh37)
Canonical SPDI:: NC_000001.11:113854952:G:A
Gene:: PTPN22 (Varview), AP4B1-AS1 (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=0.000031/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.113854953G>A, NC_000001.10:g.114397575G>A, NG_011432.1:g.21801C>T, NM_015967.8:c.637C>T, NM_015967.7:c.637C>T, NM_015967.6:c.637C>T, NM_015967.5:c.637C>T, NM_012411.5:c.637C>T, NM_012411.4:c.637C>T, NM_001193431.2:c.637C>T, NM_001193431.1:c.637C>T, NM_001308297.1:c.565C>T, XM_011541223.3:c.637C>T, XM_011541223.2:c.637C>T, XM_011541223.1:c.637C>T, XM_011541225.3:c.565C>T, XM_011541225.2:c.565C>T, XM_011541225.1:c.565C>T, XM_017001005.3:c.292C>T, XM_017001005.2:c.292C>T, XM_017001005.1:c.292C>T, XM_011541222.2:c.637C>T, XM_011541222.1:c.637C>T, XM_011541221.2:c.637C>T, XM_011541221.1:c.637C>T, XM_017001006.2:c.637C>T, XM_017001006.1:c.637C>T, XM_047417630.1:c.565C>T, XM_047417631.1:c.565C>T, XM_047417632.1:c.637C>T, NP_057051.4:p.Arg213Cys, NP_036543.4:p.Arg213Cys, NP_001180360.1:p.Arg213Cys, NP_001295226.1:p.Arg189Cys, XP_011539525.1:p.Arg213Cys, XP_011539527.1:p.Arg189Cys, XP_016856494.1:p.Arg98Cys, XP_011539524.1:p.Arg213Cys, XP_011539523.1:p.Arg213Cys, XP_016856495.1:p.Arg213Cys, XP_047273586.1:p.Arg189Cys, XP_047273587.1:p.Arg189Cys, XP_047273588.1:p.Arg213Cys

Select item 146177000919.

rs1461770009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:113837683 (GRCh38)
1:114380305 (GRCh37)
Canonical SPDI:: NC_000001.11:113837682:A:T
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.113837683A>T, NC_000001.10:g.114380305A>T, NG_011432.1:g.39071T>A, NM_015967.8:c.1717T>A, NM_015967.7:c.1717T>A, NM_015967.6:c.1717T>A, NM_015967.5:c.1717T>A, NM_012411.5:c.1552T>A, NM_012411.4:c.1552T>A, NM_001193431.2:c.1717T>A, NM_001193431.1:c.1717T>A, NM_001308297.1:c.1645T>A, XM_011541223.3:c.1717T>A, XM_011541223.2:c.1717T>A, XM_011541223.1:c.1717T>A, XM_011541225.3:c.1645T>A, XM_011541225.2:c.1645T>A, XM_011541225.1:c.1645T>A, XM_017001005.3:c.1372T>A, XM_017001005.2:c.1372T>A, XM_017001005.1:c.1372T>A, XM_011541222.2:c.1717T>A, XM_011541222.1:c.1717T>A, XM_011541221.2:c.1639T>A, XM_011541221.1:c.1639T>A, XM_047417630.1:c.1567T>A, XM_047417631.1:c.1645T>A, XM_047417632.1:c.1639T>A, NP_057051.4:p.Ser573Thr, NP_036543.4:p.Ser518Thr, NP_001180360.1:p.Ser573Thr, NP_001295226.1:p.Ser549Thr, XP_011539525.1:p.Ser573Thr, XP_011539527.1:p.Ser549Thr, XP_016856494.1:p.Ser458Thr, XP_011539524.1:p.Ser573Thr, XP_011539523.1:p.Ser547Thr, XP_047273586.1:p.Ser523Thr, XP_047273587.1:p.Ser549Thr, XP_047273588.1:p.Ser547Thr

Select item 146078262220.

rs1460782622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:113838093 (GRCh38)
1:114380715 (GRCh37)
Canonical SPDI:: NC_000001.11:113838092:C:A
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113838093C>A, NC_000001.10:g.114380715C>A, NG_011432.1:g.38661G>T, NM_015967.8:c.1307G>T, NM_015967.7:c.1307G>T, NM_015967.6:c.1307G>T, NM_015967.5:c.1307G>T, NM_012411.5:c.1142G>T, NM_012411.4:c.1142G>T, NM_001193431.2:c.1307G>T, NM_001193431.1:c.1307G>T, NM_001308297.1:c.1235G>T, XM_011541223.3:c.1307G>T, XM_011541223.2:c.1307G>T, XM_011541223.1:c.1307G>T, XM_011541225.3:c.1235G>T, XM_011541225.2:c.1235G>T, XM_011541225.1:c.1235G>T, XM_017001005.3:c.962G>T, XM_017001005.2:c.962G>T, XM_017001005.1:c.962G>T, XM_011541222.2:c.1307G>T, XM_011541222.1:c.1307G>T, XM_011541221.2:c.1229G>T, XM_011541221.1:c.1229G>T, XM_047417630.1:c.1157G>T, XM_047417631.1:c.1235G>T, XM_047417632.1:c.1229G>T, NP_057051.4:p.Arg436Ile, NP_036543.4:p.Arg381Ile, NP_001180360.1:p.Arg436Ile, NP_001295226.1:p.Arg412Ile, XP_011539525.1:p.Arg436Ile, XP_011539527.1:p.Arg412Ile, XP_016856494.1:p.Arg321Ile, XP_011539524.1:p.Arg436Ile, XP_011539523.1:p.Arg410Ile, XP_047273586.1:p.Arg386Ile, XP_047273587.1:p.Arg412Ile, XP_047273588.1:p.Arg410Ile

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