SNP Links for Protein (Select 298228964) - SNP

Links from Protein

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Select item 14892142971.

rs1489214297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:233292218 (GRCh38)
2:234200864 (GRCh37)
Canonical SPDI:: NC_000002.12:233292217:C:T
Gene:: ATG16L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_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_000002.12:g.233292218C>T, NC_000002.11:g.234200864C>T, NG_023038.1:g.45648C>T, NM_030803.7:c.1521C>T, NM_030803.6:c.1521C>T, NM_017974.4:c.1464C>T, NM_017974.3:c.1464C>T, NM_198890.3:c.1032C>T, NM_198890.2:c.1032C>T, NM_001363742.2:c.1572C>T, NM_001363742.1:c.1572C>T, NM_001190266.2:c.1269C>T, NM_001190266.1:c.1269C>T, NM_001190267.2:c.1173C>T, NM_001190267.1:c.1173C>T, NW_011332690.1:g.237556C>T, XM_006712608.4:c.1320C>T, XM_006712608.3:c.1320C>T, XM_006712608.2:c.1320C>T, XM_006712608.1:c.1320C>T, XM_005246084.3:c.1140C>T, XM_005246084.2:c.1140C>T, XM_005246084.1:c.1140C>T, XM_005246086.3:c.1089C>T, XM_005246086.2:c.1089C>T, XM_005246086.1:c.1089C>T, XM_047444848.1:c.1269C>T, XM_047444849.1:c.1212C>T

Select item 14869352332.

rs1486935233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:233289903 (GRCh38)
2:234198549 (GRCh37)
Canonical SPDI:: NC_000002.12:233289902:T:C
Gene:: ATG16L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.233289903T>C, NC_000002.11:g.234198549T>C, NG_023038.1:g.43333T>C, NM_030803.7:c.1253T>C, NM_030803.6:c.1253T>C, NM_017974.4:c.1196T>C, NM_017974.3:c.1196T>C, NM_198890.3:c.764T>C, NM_198890.2:c.764T>C, NM_001363742.2:c.1304T>C, NM_001363742.1:c.1304T>C, NM_001190266.2:c.1001T>C, NM_001190266.1:c.1001T>C, NM_001190267.2:c.905T>C, NM_001190267.1:c.905T>C, NW_011332690.1:g.235241T>C, XM_006712608.4:c.1052T>C, XM_006712608.3:c.1052T>C, XM_006712608.2:c.1052T>C, XM_006712608.1:c.1052T>C, XM_005246084.3:c.872T>C, XM_005246084.2:c.872T>C, XM_005246084.1:c.872T>C, XM_005246086.3:c.821T>C, XM_005246086.2:c.821T>C, XM_005246086.1:c.821T>C, XM_047444850.1:c.1304T>C, XM_047444848.1:c.1001T>C, XM_047444849.1:c.944T>C, NP_110430.5:p.Leu418Pro, NP_060444.3:p.Leu399Pro, NP_942593.2:p.Leu255Pro, NP_001350671.1:p.Leu435Pro, NP_001177195.1:p.Leu334Pro, NP_001177196.1:p.Leu302Pro, XP_006712671.1:p.Leu351Pro, XP_005246141.1:p.Leu291Pro, XP_005246143.1:p.Leu274Pro, XP_047300806.1:p.Leu435Pro, XP_047300804.1:p.Leu334Pro, XP_047300805.1:p.Leu315Pro

Select item 14853964763.

rs1485396476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:233251903 (GRCh38)
2:234160549 (GRCh37)
Canonical SPDI:: NC_000002.12:233251902:C:T
Gene:: ATG16L1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.233251903C>T, NC_000002.11:g.234160549C>T, NG_023038.1:g.5333C>T, NM_030803.7:c.76C>T, NM_030803.6:c.76C>T, NM_017974.4:c.76C>T, NM_017974.3:c.76C>T, NM_198890.3:c.76C>T, NM_198890.2:c.76C>T, NM_001363742.2:c.76C>T, NM_001363742.1:c.76C>T, NM_001190266.2:c.-175C>T, NM_001190266.1:c.-175C>T, NM_001190267.2:c.-269C>T, NM_001190267.1:c.-269C>T, NW_011332690.1:g.197241C>T, XM_006712608.4:c.76C>T, XM_006712608.3:c.76C>T, XM_006712608.2:c.76C>T, XM_006712608.1:c.76C>T, XM_005246084.3:c.76C>T, XM_005246084.2:c.76C>T, XM_005246084.1:c.76C>T, XM_005246086.3:c.76C>T, XM_005246086.2:c.76C>T, XM_005246086.1:c.76C>T, XM_047444850.1:c.76C>T, XM_047444849.1:c.76C>T, XM_047444848.1:c.76C>T, NP_110430.5:p.Arg26Trp, NP_060444.3:p.Arg26Trp, NP_942593.2:p.Arg26Trp, NP_001350671.1:p.Arg26Trp, XP_006712671.1:p.Arg26Trp, XP_005246141.1:p.Arg26Trp, XP_005246143.1:p.Arg26Trp, XP_047300806.1:p.Arg26Trp, XP_047300805.1:p.Arg26Trp, XP_047300804.1:p.Arg26Trp

Select item 14802763454.

rs1480276345 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:233277665 (GRCh38)
2:234186311 (GRCh37)
Canonical SPDI:: NC_000002.12:233277664:T:G
Gene:: ATG16L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.233277665T>G, NC_000002.11:g.234186311T>G, NG_023038.1:g.31095T>G, NM_030803.7:c.1052T>G, NM_030803.6:c.1052T>G, NM_017974.4:c.995T>G, NM_017974.3:c.995T>G, NM_198890.3:c.563T>G, NM_198890.2:c.563T>G, NM_001363742.2:c.1103T>G, NM_001363742.1:c.1103T>G, NM_001190266.2:c.800T>G, NM_001190266.1:c.800T>G, NM_001190267.2:c.704T>G, NM_001190267.1:c.704T>G, NW_011332690.1:g.223003T>G, XM_006712608.4:c.851T>G, XM_006712608.3:c.851T>G, XM_006712608.2:c.851T>G, XM_006712608.1:c.851T>G, XM_005246084.3:c.671T>G, XM_005246084.2:c.671T>G, XM_005246084.1:c.671T>G, XM_005246086.3:c.620T>G, XM_005246086.2:c.620T>G, XM_005246086.1:c.620T>G, XM_047444850.1:c.1103T>G, XM_047444848.1:c.800T>G, XM_047444849.1:c.743T>G, NP_110430.5:p.Val351Gly, NP_060444.3:p.Val332Gly, NP_942593.2:p.Val188Gly, NP_001350671.1:p.Val368Gly, NP_001177195.1:p.Val267Gly, NP_001177196.1:p.Val235Gly, XP_006712671.1:p.Val284Gly, XP_005246141.1:p.Val224Gly, XP_005246143.1:p.Val207Gly, XP_047300806.1:p.Val368Gly, XP_047300804.1:p.Val267Gly, XP_047300805.1:p.Val248Gly

Select item 14787148285.

rs1478714828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:233251878 (GRCh38)
2:234160524 (GRCh37)
Canonical SPDI:: NC_000002.12:233251877:C:T
Gene:: ATG16L1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.233251878C>T, NC_000002.11:g.234160524C>T, NG_023038.1:g.5308C>T, NM_030803.7:c.51C>T, NM_030803.6:c.51C>T, NM_017974.4:c.51C>T, NM_017974.3:c.51C>T, NM_198890.3:c.51C>T, NM_198890.2:c.51C>T, NM_001363742.2:c.51C>T, NM_001363742.1:c.51C>T, NM_001190266.2:c.-200C>T, NM_001190266.1:c.-200C>T, NM_001190267.2:c.-294C>T, NM_001190267.1:c.-294C>T, NW_011332690.1:g.197216C>T, XM_006712608.4:c.51C>T, XM_006712608.3:c.51C>T, XM_006712608.2:c.51C>T, XM_006712608.1:c.51C>T, XM_005246084.3:c.51C>T, XM_005246084.2:c.51C>T, XM_005246084.1:c.51C>T, XM_005246086.3:c.51C>T, XM_005246086.2:c.51C>T, XM_005246086.1:c.51C>T, XM_047444850.1:c.51C>T, XM_047444848.1:c.51C>T, XM_047444849.1:c.51C>T

Select item 14782342876.

rs1478234287 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:233270035 (GRCh38)
2:234178681 (GRCh37)
Canonical SPDI:: NC_000002.12:233270034:A:G
Gene:: ATG16L1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000002.12:g.233270035A>G, NC_000002.11:g.234178681A>G, NG_023038.1:g.23465A>G, NM_030803.7:c.675A>G, NM_030803.6:c.675A>G, NM_017974.4:c.675A>G, NM_017974.3:c.675A>G, NM_198890.3:c.243A>G, NM_198890.2:c.243A>G, NM_001363742.2:c.675A>G, NM_001363742.1:c.675A>G, NM_001190266.2:c.423A>G, NM_001190266.1:c.423A>G, NM_001190267.2:c.327A>G, NM_001190267.1:c.327A>G, NW_011332690.1:g.215373A>G, XM_006712608.4:c.423A>G, XM_006712608.3:c.423A>G, XM_006712608.2:c.423A>G, XM_006712608.1:c.423A>G, XM_005246084.3:c.243A>G, XM_005246084.2:c.243A>G, XM_005246084.1:c.243A>G, XM_005246086.3:c.243A>G, XM_005246086.2:c.243A>G, XM_005246086.1:c.243A>G, XM_047444850.1:c.675A>G, XM_047444848.1:c.423A>G, XM_047444849.1:c.423A>G

Select item 14772851717.

rs1477285171 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:233292228 (GRCh38)
2:234200874 (GRCh37)
Canonical SPDI:: NC_000002.12:233292227:TT:T
Gene:: ATG16L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.233292229del, NC_000002.11:g.234200875del, NG_023038.1:g.45659del, NM_030803.7:c.1532del, NM_030803.6:c.1532del, NM_017974.4:c.1475del, NM_017974.3:c.1475del, NM_198890.3:c.1043del, NM_198890.2:c.1043del, NM_001363742.2:c.1583del, NM_001363742.1:c.1583del, NM_001190266.2:c.1280del, NM_001190266.1:c.1280del, NM_001190267.2:c.1184del, NM_001190267.1:c.1184del, NW_011332690.1:g.237567del, XM_006712608.4:c.1331del, XM_006712608.3:c.1331del, XM_006712608.2:c.1331del, XM_006712608.1:c.1331del, XM_005246084.3:c.1151del, XM_005246084.2:c.1151del, XM_005246084.1:c.1151del, XM_005246086.3:c.1100del, XM_005246086.2:c.1100del, XM_005246086.1:c.1100del, XM_047444848.1:c.1280del, XM_047444849.1:c.1223del, NP_110430.5:p.Leu511fs, NP_060444.3:p.Leu492fs, NP_942593.2:p.Leu348fs, NP_001350671.1:p.Leu528fs, NP_001177195.1:p.Leu427fs, NP_001177196.1:p.Leu395fs, XP_006712671.1:p.Leu444fs, XP_005246141.1:p.Leu384fs, XP_005246143.1:p.Leu367fs, XP_047300804.1:p.Leu427fs, XP_047300805.1:p.Leu408fs

Select item 14741564738.

rs1474156473 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:233293259 (GRCh38)
2:234201905 (GRCh37)
Canonical SPDI:: NC_000002.12:233293258:T:C
Gene:: ATG16L1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_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_000002.12:g.233293259T>C, NC_000002.11:g.234201905T>C, NG_023038.1:g.46689T>C, NM_030803.7:c.1632T>C, NM_030803.6:c.1632T>C, NM_017974.4:c.1575T>C, NM_017974.3:c.1575T>C, NM_198890.3:c.1143T>C, NM_198890.2:c.1143T>C, NM_001363742.2:c.1683T>C, NM_001363742.1:c.1683T>C, NM_001190266.2:c.1380T>C, NM_001190266.1:c.1380T>C, NM_001190267.2:c.1284T>C, NM_001190267.1:c.1284T>C, NW_011332690.1:g.238597T>C, XM_006712608.4:c.1431T>C, XM_006712608.3:c.1431T>C, XM_006712608.2:c.1431T>C, XM_006712608.1:c.1431T>C, XM_005246084.3:c.1251T>C, XM_005246084.2:c.1251T>C, XM_005246084.1:c.1251T>C, XM_005246086.3:c.1200T>C, XM_005246086.2:c.1200T>C, XM_005246086.1:c.1200T>C, XM_047444848.1:c.1380T>C, XM_047444849.1:c.1323T>C

Select item 14729495829.

rs1472949582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:233251846 (GRCh38)
2:234160492 (GRCh37)
Canonical SPDI:: NC_000002.12:233251845:G:A
Gene:: ATG16L1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.233251846G>A, NC_000002.11:g.234160492G>A, NG_023038.1:g.5276G>A, NM_030803.7:c.19G>A, NM_030803.6:c.19G>A, NM_017974.4:c.19G>A, NM_017974.3:c.19G>A, NM_198890.3:c.19G>A, NM_198890.2:c.19G>A, NM_001363742.2:c.19G>A, NM_001363742.1:c.19G>A, NM_001190266.2:c.-232G>A, NM_001190266.1:c.-232G>A, NM_001190267.2:c.-326G>A, NM_001190267.1:c.-326G>A, NW_011332690.1:g.197184G>A, XM_006712608.4:c.19G>A, XM_006712608.3:c.19G>A, XM_006712608.2:c.19G>A, XM_006712608.1:c.19G>A, XM_005246084.3:c.19G>A, XM_005246084.2:c.19G>A, XM_005246084.1:c.19G>A, XM_005246086.3:c.19G>A, XM_005246086.2:c.19G>A, XM_005246086.1:c.19G>A, XM_047444850.1:c.19G>A, XM_047444848.1:c.19G>A, XM_047444849.1:c.19G>A, NP_110430.5:p.Ala7Thr, NP_060444.3:p.Ala7Thr, NP_942593.2:p.Ala7Thr, NP_001350671.1:p.Ala7Thr, XP_006712671.1:p.Ala7Thr, XP_005246141.1:p.Ala7Thr, XP_005246143.1:p.Ala7Thr, XP_047300806.1:p.Ala7Thr, XP_047300804.1:p.Ala7Thr, XP_047300805.1:p.Ala7Thr

Select item 147162395210.

rs1471623952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:233294271 (GRCh38)
2:234202917 (GRCh37)
Canonical SPDI:: NC_000002.12:233294270:C:G,NC_000002.12:233294270:C:T
Gene:: ATG16L1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.233294271C>G, NC_000002.12:g.233294271C>T, NC_000002.11:g.234202917C>G, NC_000002.11:g.234202917C>T, NG_023038.1:g.47701C>G, NG_023038.1:g.47701C>T, NM_030803.7:c.1745C>G, NM_030803.7:c.1745C>T, NM_030803.6:c.1745C>G, NM_030803.6:c.1745C>T, NM_017974.4:c.1688C>G, NM_017974.4:c.1688C>T, NM_017974.3:c.1688C>G, NM_017974.3:c.1688C>T, NM_198890.3:c.1256C>G, NM_198890.3:c.1256C>T, NM_198890.2:c.1256C>G, NM_198890.2:c.1256C>T, NM_001363742.2:c.1796C>G, NM_001363742.2:c.1796C>T, NM_001363742.1:c.1796C>G, NM_001363742.1:c.1796C>T, NM_001190266.2:c.1493C>G, NM_001190266.2:c.1493C>T, NM_001190266.1:c.1493C>G, NM_001190266.1:c.1493C>T, NM_001190267.2:c.1397C>G, NM_001190267.2:c.1397C>T, NM_001190267.1:c.1397C>G, NM_001190267.1:c.1397C>T, NW_011332690.1:g.239609C>G, NW_011332690.1:g.239609C>T, XM_006712608.4:c.1544C>G, XM_006712608.4:c.1544C>T, XM_006712608.3:c.1544C>G, XM_006712608.3:c.1544C>T, XM_006712608.2:c.1544C>G, XM_006712608.2:c.1544C>T, XM_006712608.1:c.1544C>G, XM_006712608.1:c.1544C>T, XM_005246084.3:c.1364C>G, XM_005246084.3:c.1364C>T, XM_005246084.2:c.1364C>G, XM_005246084.2:c.1364C>T, XM_005246084.1:c.1364C>G, XM_005246084.1:c.1364C>T, XM_005246086.3:c.1313C>G, XM_005246086.3:c.1313C>T, XM_005246086.2:c.1313C>G, XM_005246086.2:c.1313C>T, XM_005246086.1:c.1313C>G, XM_005246086.1:c.1313C>T, XM_047444848.1:c.1493C>G, XM_047444848.1:c.1493C>T, XM_047444849.1:c.1436C>G, XM_047444849.1:c.1436C>T, NP_110430.5:p.Ala582Gly, NP_110430.5:p.Ala582Val, NP_060444.3:p.Ala563Gly, NP_060444.3:p.Ala563Val, NP_942593.2:p.Ala419Gly, NP_942593.2:p.Ala419Val, NP_001350671.1:p.Ala599Gly, NP_001350671.1:p.Ala599Val, NP_001177195.1:p.Ala498Gly, NP_001177195.1:p.Ala498Val, NP_001177196.1:p.Ala466Gly, NP_001177196.1:p.Ala466Val, XP_006712671.1:p.Ala515Gly, XP_006712671.1:p.Ala515Val, XP_005246141.1:p.Ala455Gly, XP_005246141.1:p.Ala455Val, XP_005246143.1:p.Ala438Gly, XP_005246143.1:p.Ala438Val, XP_047300804.1:p.Ala498Gly, XP_047300804.1:p.Ala498Val, XP_047300805.1:p.Ala479Gly, XP_047300805.1:p.Ala479Val

Select item 146950337911.

rs1469503379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:233277576 (GRCh38)
2:234186222 (GRCh37)
Canonical SPDI:: NC_000002.12:233277575:T:C
Gene:: ATG16L1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.233277576T>C, NC_000002.11:g.234186222T>C, NG_023038.1:g.31006T>C, NM_030803.7:c.963T>C, NM_030803.6:c.963T>C, NM_017974.4:c.906T>C, NM_017974.3:c.906T>C, NM_198890.3:c.474T>C, NM_198890.2:c.474T>C, NM_001363742.2:c.1014T>C, NM_001363742.1:c.1014T>C, NM_001190266.2:c.711T>C, NM_001190266.1:c.711T>C, NM_001190267.2:c.615T>C, NM_001190267.1:c.615T>C, NW_011332690.1:g.222914T>C, XM_006712608.4:c.762T>C, XM_006712608.3:c.762T>C, XM_006712608.2:c.762T>C, XM_006712608.1:c.762T>C, XM_005246084.3:c.582T>C, XM_005246084.2:c.582T>C, XM_005246084.1:c.582T>C, XM_005246086.3:c.531T>C, XM_005246086.2:c.531T>C, XM_005246086.1:c.531T>C, XM_047444850.1:c.1014T>C, XM_047444849.1:c.654T>C, XM_047444848.1:c.711T>C

Select item 146727884912.

rs1467278849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:233270012 (GRCh38)
2:234178658 (GRCh37)
Canonical SPDI:: NC_000002.12:233270011:G:A
Gene:: ATG16L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.233270012G>A, NC_000002.11:g.234178658G>A, NG_023038.1:g.23442G>A, NM_030803.7:c.652G>A, NM_030803.6:c.652G>A, NM_017974.4:c.652G>A, NM_017974.3:c.652G>A, NM_198890.3:c.220G>A, NM_198890.2:c.220G>A, NM_001363742.2:c.652G>A, NM_001363742.1:c.652G>A, NM_001190266.2:c.400G>A, NM_001190266.1:c.400G>A, NM_001190267.2:c.304G>A, NM_001190267.1:c.304G>A, NW_011332690.1:g.215350G>A, XM_006712608.4:c.400G>A, XM_006712608.3:c.400G>A, XM_006712608.2:c.400G>A, XM_006712608.1:c.400G>A, XM_005246084.3:c.220G>A, XM_005246084.2:c.220G>A, XM_005246084.1:c.220G>A, XM_005246086.3:c.220G>A, XM_005246086.2:c.220G>A, XM_005246086.1:c.220G>A, XM_047444850.1:c.652G>A, XM_047444849.1:c.400G>A, XM_047444848.1:c.400G>A, NP_110430.5:p.Ala218Thr, NP_060444.3:p.Ala218Thr, NP_942593.2:p.Ala74Thr, NP_001350671.1:p.Ala218Thr, NP_001177195.1:p.Ala134Thr, NP_001177196.1:p.Ala102Thr, XP_006712671.1:p.Ala134Thr, XP_005246141.1:p.Ala74Thr, XP_005246143.1:p.Ala74Thr, XP_047300806.1:p.Ala218Thr, XP_047300805.1:p.Ala134Thr, XP_047300804.1:p.Ala134Thr

Select item 146577909813.

rs1465779098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:233277625 (GRCh38)
2:234186271 (GRCh37)
Canonical SPDI:: NC_000002.12:233277624:G:T
Gene:: ATG16L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.233277625G>T, NC_000002.11:g.234186271G>T, NG_023038.1:g.31055G>T, NM_030803.7:c.1012G>T, NM_030803.6:c.1012G>T, NM_017974.4:c.955G>T, NM_017974.3:c.955G>T, NM_198890.3:c.523G>T, NM_198890.2:c.523G>T, NM_001363742.2:c.1063G>T, NM_001363742.1:c.1063G>T, NM_001190266.2:c.760G>T, NM_001190266.1:c.760G>T, NM_001190267.2:c.664G>T, NM_001190267.1:c.664G>T, NW_011332690.1:g.222963G>T, XM_006712608.4:c.811G>T, XM_006712608.3:c.811G>T, XM_006712608.2:c.811G>T, XM_006712608.1:c.811G>T, XM_005246084.3:c.631G>T, XM_005246084.2:c.631G>T, XM_005246084.1:c.631G>T, XM_005246086.3:c.580G>T, XM_005246086.2:c.580G>T, XM_005246086.1:c.580G>T, XM_047444850.1:c.1063G>T, XM_047444848.1:c.760G>T, XM_047444849.1:c.703G>T, NP_110430.5:p.Ala338Ser, NP_060444.3:p.Ala319Ser, NP_942593.2:p.Ala175Ser, NP_001350671.1:p.Ala355Ser, NP_001177195.1:p.Ala254Ser, NP_001177196.1:p.Ala222Ser, XP_006712671.1:p.Ala271Ser, XP_005246141.1:p.Ala211Ser, XP_005246143.1:p.Ala194Ser, XP_047300806.1:p.Ala355Ser, XP_047300804.1:p.Ala254Ser, XP_047300805.1:p.Ala235Ser

Select item 146096655914.

rs1460966559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:233270020 (GRCh38)
2:234178666 (GRCh37)
Canonical SPDI:: NC_000002.12:233270019:G:A
Gene:: ATG16L1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000002.12:g.233270020G>A, NC_000002.11:g.234178666G>A, NG_023038.1:g.23450G>A, NM_030803.7:c.660G>A, NM_030803.6:c.660G>A, NM_017974.4:c.660G>A, NM_017974.3:c.660G>A, NM_198890.3:c.228G>A, NM_198890.2:c.228G>A, NM_001363742.2:c.660G>A, NM_001363742.1:c.660G>A, NM_001190266.2:c.408G>A, NM_001190266.1:c.408G>A, NM_001190267.2:c.312G>A, NM_001190267.1:c.312G>A, NW_011332690.1:g.215358G>A, XM_006712608.4:c.408G>A, XM_006712608.3:c.408G>A, XM_006712608.2:c.408G>A, XM_006712608.1:c.408G>A, XM_005246084.3:c.228G>A, XM_005246084.2:c.228G>A, XM_005246084.1:c.228G>A, XM_005246086.3:c.228G>A, XM_005246086.2:c.228G>A, XM_005246086.1:c.228G>A, XM_047444850.1:c.660G>A, XM_047444848.1:c.408G>A, XM_047444849.1:c.408G>A

Select item 145738325515.

rs1457383255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:233273000 (GRCh38)
2:234181646 (GRCh37)
Canonical SPDI:: NC_000002.12:233272999:T:G
Gene:: ATG16L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.233273000T>G, NC_000002.11:g.234181646T>G, NG_023038.1:g.26430T>G, NM_030803.7:c.742T>G, NM_030803.6:c.742T>G, NM_017974.4:c.742T>G, NM_017974.3:c.742T>G, NM_198890.3:c.310T>G, NM_198890.2:c.310T>G, NM_001363742.2:c.742T>G, NM_001363742.1:c.742T>G, NM_001190266.2:c.490T>G, NM_001190266.1:c.490T>G, NM_001190267.2:c.394T>G, NM_001190267.1:c.394T>G, NW_011332690.1:g.218338T>G, XM_006712608.4:c.490T>G, XM_006712608.3:c.490T>G, XM_006712608.2:c.490T>G, XM_006712608.1:c.490T>G, XM_005246084.3:c.310T>G, XM_005246084.2:c.310T>G, XM_005246084.1:c.310T>G, XM_005246086.3:c.310T>G, XM_005246086.2:c.310T>G, XM_005246086.1:c.310T>G, XM_047444850.1:c.742T>G, XM_047444848.1:c.490T>G, XM_047444849.1:c.490T>G, NP_110430.5:p.Ser248Ala, NP_060444.3:p.Ser248Ala, NP_942593.2:p.Ser104Ala, NP_001350671.1:p.Ser248Ala, NP_001177195.1:p.Ser164Ala, NP_001177196.1:p.Ser132Ala, XP_006712671.1:p.Ser164Ala, XP_005246141.1:p.Ser104Ala, XP_005246143.1:p.Ser104Ala, XP_047300806.1:p.Ser248Ala, XP_047300804.1:p.Ser164Ala, XP_047300805.1:p.Ser164Ala

Select item 145646450916.

rs1456464509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:233270046 (GRCh38)
2:234178692 (GRCh37)
Canonical SPDI:: NC_000002.12:233270045:A:G
Gene:: ATG16L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.233270046A>G, NC_000002.11:g.234178692A>G, NG_023038.1:g.23476A>G, NM_030803.7:c.686A>G, NM_030803.6:c.686A>G, NM_017974.4:c.686A>G, NM_017974.3:c.686A>G, NM_198890.3:c.254A>G, NM_198890.2:c.254A>G, NM_001363742.2:c.686A>G, NM_001363742.1:c.686A>G, NM_001190266.2:c.434A>G, NM_001190266.1:c.434A>G, NM_001190267.2:c.338A>G, NM_001190267.1:c.338A>G, NW_011332690.1:g.215384A>G, XM_006712608.4:c.434A>G, XM_006712608.3:c.434A>G, XM_006712608.2:c.434A>G, XM_006712608.1:c.434A>G, XM_005246084.3:c.254A>G, XM_005246084.2:c.254A>G, XM_005246084.1:c.254A>G, XM_005246086.3:c.254A>G, XM_005246086.2:c.254A>G, XM_005246086.1:c.254A>G, XM_047444850.1:c.686A>G, XM_047444848.1:c.434A>G, XM_047444849.1:c.434A>G, NP_110430.5:p.Lys229Arg, NP_060444.3:p.Lys229Arg, NP_942593.2:p.Lys85Arg, NP_001350671.1:p.Lys229Arg, NP_001177195.1:p.Lys145Arg, NP_001177196.1:p.Lys113Arg, XP_006712671.1:p.Lys145Arg, XP_005246141.1:p.Lys85Arg, XP_005246143.1:p.Lys85Arg, XP_047300806.1:p.Lys229Arg, XP_047300804.1:p.Lys145Arg, XP_047300805.1:p.Lys145Arg

Select item 145625746117.

rs1456257461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:233290301 (GRCh38)
2:234198947 (GRCh37)
Canonical SPDI:: NC_000002.12:233290300:C:T
Gene:: ATG16L1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.233290301C>T, NC_000002.11:g.234198947C>T, NG_023038.1:g.43731C>T, NM_030803.7:c.1378C>T, NM_030803.6:c.1378C>T, NM_017974.4:c.1321C>T, NM_017974.3:c.1321C>T, NM_198890.3:c.889C>T, NM_198890.2:c.889C>T, NM_001363742.2:c.1429C>T, NM_001363742.1:c.1429C>T, NM_001190266.2:c.1126C>T, NM_001190266.1:c.1126C>T, NM_001190267.2:c.1030C>T, NM_001190267.1:c.1030C>T, NW_011332690.1:g.235639C>T, XM_006712608.4:c.1177C>T, XM_006712608.3:c.1177C>T, XM_006712608.2:c.1177C>T, XM_006712608.1:c.1177C>T, XM_005246084.3:c.997C>T, XM_005246084.2:c.997C>T, XM_005246084.1:c.997C>T, XM_005246086.3:c.946C>T, XM_005246086.2:c.946C>T, XM_005246086.1:c.946C>T, XM_047444850.1:c.*48C>T, XM_047444848.1:c.1126C>T, XM_047444849.1:c.1069C>T, NP_110430.5:p.Gln460Ter, NP_060444.3:p.Gln441Ter, NP_942593.2:p.Gln297Ter, NP_001350671.1:p.Gln477Ter, NP_001177195.1:p.Gln376Ter, NP_001177196.1:p.Gln344Ter, XP_006712671.1:p.Gln393Ter, XP_005246141.1:p.Gln333Ter, XP_005246143.1:p.Gln316Ter, XP_047300804.1:p.Gln376Ter, XP_047300805.1:p.Gln357Ter

Select item 145232030118.

rs1452320301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:233289944 (GRCh38)
2:234198590 (GRCh37)
Canonical SPDI:: NC_000002.12:233289943:C:T
Gene:: ATG16L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000002.12:g.233289944C>T, NC_000002.11:g.234198590C>T, NG_023038.1:g.43374C>T, NM_030803.7:c.1294C>T, NM_030803.6:c.1294C>T, NM_017974.4:c.1237C>T, NM_017974.3:c.1237C>T, NM_198890.3:c.805C>T, NM_198890.2:c.805C>T, NM_001363742.2:c.1345C>T, NM_001363742.1:c.1345C>T, NM_001190266.2:c.1042C>T, NM_001190266.1:c.1042C>T, NM_001190267.2:c.946C>T, NM_001190267.1:c.946C>T, NW_011332690.1:g.235282C>T, XM_006712608.4:c.1093C>T, XM_006712608.3:c.1093C>T, XM_006712608.2:c.1093C>T, XM_006712608.1:c.1093C>T, XM_005246084.3:c.913C>T, XM_005246084.2:c.913C>T, XM_005246084.1:c.913C>T, XM_005246086.3:c.862C>T, XM_005246086.2:c.862C>T, XM_005246086.1:c.862C>T, XM_047444850.1:c.1345C>T, XM_047444848.1:c.1042C>T, XM_047444849.1:c.985C>T, NP_110430.5:p.Leu432Phe, NP_060444.3:p.Leu413Phe, NP_942593.2:p.Leu269Phe, NP_001350671.1:p.Leu449Phe, NP_001177195.1:p.Leu348Phe, NP_001177196.1:p.Leu316Phe, XP_006712671.1:p.Leu365Phe, XP_005246141.1:p.Leu305Phe, XP_005246143.1:p.Leu288Phe, XP_047300806.1:p.Leu449Phe, XP_047300804.1:p.Leu348Phe, XP_047300805.1:p.Leu329Phe

Select item 145171035219.

rs1451710352 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:233292393 (GRCh38)
2:234201039 (GRCh37)
Canonical SPDI:: NC_000002.12:233292392:T:C
Gene:: ATG16L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.233292393T>C, NC_000002.11:g.234201039T>C, NG_023038.1:g.45823T>C, NM_030803.7:c.1587T>C, NM_030803.6:c.1587T>C, NM_017974.4:c.1530T>C, NM_017974.3:c.1530T>C, NM_198890.3:c.1098T>C, NM_198890.2:c.1098T>C, NM_001363742.2:c.1638T>C, NM_001363742.1:c.1638T>C, NM_001190266.2:c.1335T>C, NM_001190266.1:c.1335T>C, NM_001190267.2:c.1239T>C, NM_001190267.1:c.1239T>C, NW_011332690.1:g.237731T>C, XM_006712608.4:c.1386T>C, XM_006712608.3:c.1386T>C, XM_006712608.2:c.1386T>C, XM_006712608.1:c.1386T>C, XM_005246084.3:c.1206T>C, XM_005246084.2:c.1206T>C, XM_005246084.1:c.1206T>C, XM_005246086.3:c.1155T>C, XM_005246086.2:c.1155T>C, XM_005246086.1:c.1155T>C, XM_047444848.1:c.1335T>C, XM_047444849.1:c.1278T>C

Select item 144619154420.

rs1446191544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:233290297 (GRCh38)
2:234198943 (GRCh37)
Canonical SPDI:: NC_000002.12:233290296:A:C
Gene:: ATG16L1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000002.12:g.233290297A>C, NC_000002.11:g.234198943A>C, NG_023038.1:g.43727A>C, NM_030803.7:c.1374A>C, NM_030803.6:c.1374A>C, NM_017974.4:c.1317A>C, NM_017974.3:c.1317A>C, NM_198890.3:c.885A>C, NM_198890.2:c.885A>C, NM_001363742.2:c.1425A>C, NM_001363742.1:c.1425A>C, NM_001190266.2:c.1122A>C, NM_001190266.1:c.1122A>C, NM_001190267.2:c.1026A>C, NM_001190267.1:c.1026A>C, NW_011332690.1:g.235635A>C, XM_006712608.4:c.1173A>C, XM_006712608.3:c.1173A>C, XM_006712608.2:c.1173A>C, XM_006712608.1:c.1173A>C, XM_005246084.3:c.993A>C, XM_005246084.2:c.993A>C, XM_005246084.1:c.993A>C, XM_005246086.3:c.942A>C, XM_005246086.2:c.942A>C, XM_005246086.1:c.942A>C, XM_047444850.1:c.*44A>C, XM_047444849.1:c.1065A>C, XM_047444848.1:c.1122A>C

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