SNP Links for Protein (Select 219555661) - SNP

Links from Protein

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Select item 14900790311.

rs1490079031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:110132599 (GRCh38)
12:110570404 (GRCh37)
Canonical SPDI:: NC_000012.12:110132598:T:A
Gene:: IFT81 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110132599T>A, NC_000012.11:g.110570404T>A, NG_052859.1:g.13265T>A, NM_014055.4:c.482T>A, NM_014055.3:c.482T>A, NM_031473.4:c.482T>A, NM_031473.3:c.482T>A, NR_144952.2:n.1008T>A, NR_144952.1:n.1030T>A, NM_001347948.2:c.-285T>A, NM_001347948.1:c.-285T>A, NR_144951.2:n.590T>A, NR_144951.1:n.612T>A, NM_001143779.2:c.482T>A, NM_001143779.1:c.482T>A, NR_144950.2:n.590T>A, NR_144950.1:n.612T>A, NM_001347946.2:c.482T>A, NM_001347946.1:c.482T>A, NM_001347947.2:c.-285T>A, NM_001347947.1:c.-285T>A, XR_944523.4:n.590T>A, XR_944523.3:n.594T>A, XR_944523.2:n.558T>A, XR_944523.1:n.567T>A, XR_001748670.3:n.1008T>A, XR_001748670.2:n.1030T>A, XR_001748670.1:n.1030T>A, XM_017019217.2:c.482T>A, XM_017019217.1:c.482T>A, XR_007063070.1:n.1008T>A, NP_054774.2:p.Leu161His, NP_113661.2:p.Leu161His, NP_001137251.1:p.Leu161His, NP_001334875.1:p.Leu161His, XP_016874706.1:p.Leu161His

Select item 14860338062.

rs1486033806 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:110128148 (GRCh38)
12:110565953 (GRCh37)
Canonical SPDI:: NC_000012.12:110128147:A:G
Gene:: IFT81 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.013514/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110128148A>G, NC_000012.11:g.110565953A>G, NG_052859.1:g.8814A>G, NM_014055.4:c.247A>G, NM_014055.3:c.247A>G, NM_031473.4:c.247A>G, NM_031473.3:c.247A>G, NR_144952.2:n.773A>G, NR_144952.1:n.795A>G, NR_144949.2:n.773A>G, NR_144949.1:n.795A>G, NM_001347948.2:c.-520A>G, NM_001347948.1:c.-520A>G, NR_144951.2:n.355A>G, NR_144951.1:n.377A>G, NM_001143779.2:c.247A>G, NM_001143779.1:c.247A>G, NR_144950.2:n.355A>G, NR_144950.1:n.377A>G, NM_001347946.2:c.247A>G, NM_001347946.1:c.247A>G, NM_001347947.2:c.-520A>G, NM_001347947.1:c.-520A>G, XR_944523.4:n.355A>G, XR_944523.3:n.359A>G, XR_944523.2:n.323A>G, XR_944523.1:n.332A>G, XR_001748670.3:n.773A>G, XR_001748670.2:n.795A>G, XR_001748670.1:n.795A>G, XM_017019217.2:c.247A>G, XM_017019217.1:c.247A>G, XR_007063070.1:n.773A>G, NP_054774.2:p.Met83Val, NP_113661.2:p.Met83Val, NP_001137251.1:p.Met83Val, NP_001334875.1:p.Met83Val, XP_016874706.1:p.Met83Val

Select item 14848013673.

rs1484801367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:110218187 (GRCh38)
12:110655992 (GRCh37)
Canonical SPDI:: NC_000012.12:110218186:G:C
Gene:: IFT81 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110218187G>C, NC_000012.11:g.110655992G>C, NG_052859.1:g.98853G>C, NM_014055.4:c.1992G>C, NM_014055.3:c.1992G>C, NR_144952.2:n.2640G>C, NR_144952.1:n.2662G>C, NR_144949.2:n.2550G>C, NR_144949.1:n.2572G>C, NM_001347948.2:c.1062G>C, NM_001347948.1:c.1062G>C, NR_144951.2:n.2222G>C, NR_144951.1:n.2244G>C, NM_001143779.2:c.1992G>C, NM_001143779.1:c.1992G>C, NR_144950.2:n.2058G>C, NR_144950.1:n.2080G>C, NM_001347947.2:c.1062G>C, NM_001347947.1:c.1062G>C, XM_017019217.2:c.1992G>C, XM_017019217.1:c.1992G>C, NP_054774.2:p.Gln664His, NP_001334877.1:p.Gln354His, NP_001137251.1:p.Gln664His, NP_001334876.1:p.Gln354His, XP_016874706.1:p.Gln664His

Select item 14847992164.

rs1484799216 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:110192645 (GRCh38)
12:110630450 (GRCh37)
Canonical SPDI:: NC_000012.12:110192644:A:G
Gene:: IFT81 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_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_000012.12:g.110192645A>G, NC_000012.11:g.110630450A>G, NG_052859.1:g.73311A>G, NM_014055.4:c.1496A>G, NM_014055.3:c.1496A>G, NR_144952.2:n.2144A>G, NR_144952.1:n.2166A>G, NR_144949.2:n.2054A>G, NR_144949.1:n.2076A>G, NM_001347948.2:c.566A>G, NM_001347948.1:c.566A>G, NR_144951.2:n.1726A>G, NR_144951.1:n.1748A>G, NM_001143779.2:c.1496A>G, NM_001143779.1:c.1496A>G, NR_144950.2:n.1562A>G, NR_144950.1:n.1584A>G, NM_001347947.2:c.566A>G, NM_001347947.1:c.566A>G, XM_017019217.2:c.1496A>G, XM_017019217.1:c.1496A>G, XR_007063070.1:n.2023A>G, NP_054774.2:p.Glu499Gly, NP_001334877.1:p.Glu189Gly, NP_001137251.1:p.Glu499Gly, NP_001334876.1:p.Glu189Gly, XP_016874706.1:p.Glu499Gly

Select item 14812782145.

rs1481278214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:110129079 (GRCh38)
12:110566884 (GRCh37)
Canonical SPDI:: NC_000012.12:110129078:G:A
Gene:: IFT81 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110129079G>A, NC_000012.11:g.110566884G>A, NG_052859.1:g.9745G>A, NM_014055.4:c.378G>A, NM_014055.3:c.378G>A, NM_031473.4:c.378G>A, NM_031473.3:c.378G>A, NR_144952.2:n.904G>A, NR_144952.1:n.926G>A, NR_144949.2:n.904G>A, NR_144949.1:n.926G>A, NM_001347948.2:c.-389G>A, NM_001347948.1:c.-389G>A, NR_144951.2:n.486G>A, NR_144951.1:n.508G>A, NM_001143779.2:c.378G>A, NM_001143779.1:c.378G>A, NR_144950.2:n.486G>A, NR_144950.1:n.508G>A, NM_001347946.2:c.378G>A, NM_001347946.1:c.378G>A, NM_001347947.2:c.-389G>A, NM_001347947.1:c.-389G>A, XR_944523.4:n.486G>A, XR_944523.3:n.490G>A, XR_944523.2:n.454G>A, XR_944523.1:n.463G>A, XR_001748670.3:n.904G>A, XR_001748670.2:n.926G>A, XR_001748670.1:n.926G>A, XM_017019217.2:c.378G>A, XM_017019217.1:c.378G>A, XR_007063070.1:n.904G>A

Select item 14812396176.

rs1481239617 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:110205499 (GRCh38)
12:110643304 (GRCh37)
Canonical SPDI:: NC_000012.12:110205498:A:G
Gene:: IFT81 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_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_000012.12:g.110205499A>G, NC_000012.11:g.110643304A>G, NG_052859.1:g.86165A>G, NM_014055.4:c.1701A>G, NM_014055.3:c.1701A>G, NR_144952.2:n.2349A>G, NR_144952.1:n.2371A>G, NR_144949.2:n.2259A>G, NR_144949.1:n.2281A>G, NM_001347948.2:c.771A>G, NM_001347948.1:c.771A>G, NR_144951.2:n.1931A>G, NR_144951.1:n.1953A>G, NM_001143779.2:c.1701A>G, NM_001143779.1:c.1701A>G, NR_144950.2:n.1767A>G, NR_144950.1:n.1789A>G, NM_001347947.2:c.771A>G, NM_001347947.1:c.771A>G, XM_017019217.2:c.1701A>G, XM_017019217.1:c.1701A>G

Select item 14807580297.

rs1480758029 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:110132617 (GRCh38)
12:110570422 (GRCh37)
Canonical SPDI:: NC_000012.12:110132615:TCT:T
Gene:: IFT81 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110132617_110132618del, NC_000012.11:g.110570422_110570423del, NG_052859.1:g.13283_13284del, NM_014055.4:c.500_501del, NM_014055.3:c.500_501del, NM_031473.4:c.500_501del, NM_031473.3:c.500_501del, NR_144952.2:n.1026_1027del, NR_144952.1:n.1048_1049del, NM_001347948.2:c.-267_-266del, NM_001347948.1:c.-267_-266del, NR_144951.2:n.608_609del, NR_144951.1:n.630_631del, NM_001143779.2:c.500_501del, NM_001143779.1:c.500_501del, NR_144950.2:n.608_609del, NR_144950.1:n.630_631del, NM_001347946.2:c.500_501del, NM_001347946.1:c.500_501del, NM_001347947.2:c.-267_-266del, NM_001347947.1:c.-267_-266del, XR_944523.4:n.608_609del, XR_944523.3:n.612_613del, XR_944523.2:n.576_577del, XR_944523.1:n.585_586del, XR_001748670.3:n.1026_1027del, XR_001748670.2:n.1048_1049del, XR_001748670.1:n.1048_1049del, XM_017019217.2:c.500_501del, XM_017019217.1:c.500_501del, XR_007063070.1:n.1026_1027del, NP_054774.2:p.Ser167fs, NP_113661.2:p.Ser167fs, NP_001137251.1:p.Ser167fs, NP_001334875.1:p.Ser167fs, XP_016874706.1:p.Ser167fs

Select item 14806958058.

rs1480695805 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:110218097 (GRCh38)
12:110655902 (GRCh37)
Canonical SPDI:: NC_000012.12:110218096:A:G
Gene:: IFT81 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110218097A>G, NC_000012.11:g.110655902A>G, NG_052859.1:g.98763A>G, NM_014055.4:c.1902A>G, NM_014055.3:c.1902A>G, NR_144952.2:n.2550A>G, NR_144952.1:n.2572A>G, NR_144949.2:n.2460A>G, NR_144949.1:n.2482A>G, NM_001347948.2:c.972A>G, NM_001347948.1:c.972A>G, NR_144951.2:n.2132A>G, NR_144951.1:n.2154A>G, NM_001143779.2:c.1902A>G, NM_001143779.1:c.1902A>G, NR_144950.2:n.1968A>G, NR_144950.1:n.1990A>G, NM_001347947.2:c.972A>G, NM_001347947.1:c.972A>G, XM_017019217.2:c.1902A>G, XM_017019217.1:c.1902A>G

Select item 14794742329.

rs1479474232 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:110128071 (GRCh38)
12:110565876 (GRCh37)
Canonical SPDI:: NC_000012.12:110128070:T:C
Gene:: IFT81 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.0001/1 (ALFA)
HGVS:: NC_000012.12:g.110128071T>C, NC_000012.11:g.110565876T>C, NG_052859.1:g.8737T>C, NM_014055.4:c.170T>C, NM_014055.3:c.170T>C, NM_031473.4:c.170T>C, NM_031473.3:c.170T>C, NR_144952.2:n.696T>C, NR_144952.1:n.718T>C, NR_144949.2:n.696T>C, NR_144949.1:n.718T>C, NM_001347948.2:c.-597T>C, NM_001347948.1:c.-597T>C, NR_144951.2:n.278T>C, NR_144951.1:n.300T>C, NM_001143779.2:c.170T>C, NM_001143779.1:c.170T>C, NR_144950.2:n.278T>C, NR_144950.1:n.300T>C, NM_001347946.2:c.170T>C, NM_001347946.1:c.170T>C, NM_001347947.2:c.-597T>C, NM_001347947.1:c.-597T>C, XR_944523.4:n.278T>C, XR_944523.3:n.282T>C, XR_944523.2:n.246T>C, XR_944523.1:n.255T>C, XR_001748670.3:n.696T>C, XR_001748670.2:n.718T>C, XR_001748670.1:n.718T>C, XM_017019217.2:c.170T>C, XM_017019217.1:c.170T>C, XR_007063070.1:n.696T>C, NP_054774.2:p.Met57Thr, NP_113661.2:p.Met57Thr, NP_001137251.1:p.Met57Thr, NP_001334875.1:p.Met57Thr, XP_016874706.1:p.Met57Thr

Select item 147829964110.

rs1478299641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:110146959 (GRCh38)
12:110584764 (GRCh37)
Canonical SPDI:: NC_000012.12:110146958:G:A,NC_000012.12:110146958:G:T
Gene:: IFT81 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110146959G>A, NC_000012.12:g.110146959G>T, NC_000012.11:g.110584764G>A, NC_000012.11:g.110584764G>T, NG_052859.1:g.27625G>A, NG_052859.1:g.27625G>T, NM_014055.4:c.952G>A, NM_014055.4:c.952G>T, NM_014055.3:c.952G>A, NM_014055.3:c.952G>T, NM_031473.4:c.952G>A, NM_031473.4:c.952G>T, NM_031473.3:c.952G>A, NM_031473.3:c.952G>T, NR_144952.2:n.1478G>A, NR_144952.2:n.1478G>T, NR_144952.1:n.1500G>A, NR_144952.1:n.1500G>T, NR_144949.2:n.1388G>A, NR_144949.2:n.1388G>T, NR_144949.1:n.1410G>A, NR_144949.1:n.1410G>T, NM_001347948.2:c.22G>A, NM_001347948.2:c.22G>T, NM_001347948.1:c.22G>A, NM_001347948.1:c.22G>T, NR_144951.2:n.1060G>A, NR_144951.2:n.1060G>T, NR_144951.1:n.1082G>A, NR_144951.1:n.1082G>T, NM_001143779.2:c.952G>A, NM_001143779.2:c.952G>T, NM_001143779.1:c.952G>A, NM_001143779.1:c.952G>T, NR_144950.2:n.896G>A, NR_144950.2:n.896G>T, NR_144950.1:n.918G>A, NR_144950.1:n.918G>T, NM_001347946.2:c.952G>A, NM_001347946.2:c.952G>T, NM_001347946.1:c.952G>A, NM_001347946.1:c.952G>T, NM_001347947.2:c.22G>A, NM_001347947.2:c.22G>T, NM_001347947.1:c.22G>A, NM_001347947.1:c.22G>T, XR_944523.4:n.1060G>A, XR_944523.4:n.1060G>T, XR_944523.3:n.1064G>A, XR_944523.3:n.1064G>T, XR_944523.2:n.1028G>A, XR_944523.2:n.1028G>T, XR_944523.1:n.1037G>A, XR_944523.1:n.1037G>T, XR_001748670.3:n.1478G>A, XR_001748670.3:n.1478G>T, XR_001748670.2:n.1500G>A, XR_001748670.2:n.1500G>T, XR_001748670.1:n.1500G>A, XR_001748670.1:n.1500G>T, XM_017019217.2:c.952G>A, XM_017019217.2:c.952G>T, XM_017019217.1:c.952G>A, XM_017019217.1:c.952G>T, XR_007063070.1:n.1478G>A, XR_007063070.1:n.1478G>T, NP_054774.2:p.Glu318Lys, NP_054774.2:p.Glu318Ter, NP_113661.2:p.Glu318Lys, NP_113661.2:p.Glu318Ter, NP_001334877.1:p.Glu8Lys, NP_001334877.1:p.Glu8Ter, NP_001137251.1:p.Glu318Lys, NP_001137251.1:p.Glu318Ter, NP_001334875.1:p.Glu318Lys, NP_001334875.1:p.Glu318Ter, NP_001334876.1:p.Glu8Lys, NP_001334876.1:p.Glu8Ter, XP_016874706.1:p.Glu318Lys, XP_016874706.1:p.Glu318Ter

Select item 147609224411.

rs1476092244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:110218052 (GRCh38)
12:110655857 (GRCh37)
Canonical SPDI:: NC_000012.12:110218051:G:A
Gene:: IFT81 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.110218052G>A, NC_000012.11:g.110655857G>A, NG_052859.1:g.98718G>A, NM_014055.4:c.1857G>A, NM_014055.3:c.1857G>A, NR_144952.2:n.2505G>A, NR_144952.1:n.2527G>A, NR_144949.2:n.2415G>A, NR_144949.1:n.2437G>A, NM_001347948.2:c.927G>A, NM_001347948.1:c.927G>A, NR_144951.2:n.2087G>A, NR_144951.1:n.2109G>A, NM_001143779.2:c.1857G>A, NM_001143779.1:c.1857G>A, NR_144950.2:n.1923G>A, NR_144950.1:n.1945G>A, NM_001347947.2:c.927G>A, NM_001347947.1:c.927G>A, XM_017019217.2:c.1857G>A, XM_017019217.1:c.1857G>A

Select item 147221865212.

rs1472218652 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:110146966 (GRCh38)
12:110584771 (GRCh37)
Canonical SPDI:: NC_000012.12:110146965:A:G
Gene:: IFT81 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.110146966A>G, NC_000012.11:g.110584771A>G, NG_052859.1:g.27632A>G, NM_014055.4:c.959A>G, NM_014055.3:c.959A>G, NM_031473.4:c.959A>G, NM_031473.3:c.959A>G, NR_144952.2:n.1485A>G, NR_144952.1:n.1507A>G, NR_144949.2:n.1395A>G, NR_144949.1:n.1417A>G, NM_001347948.2:c.29A>G, NM_001347948.1:c.29A>G, NR_144951.2:n.1067A>G, NR_144951.1:n.1089A>G, NM_001143779.2:c.959A>G, NM_001143779.1:c.959A>G, NR_144950.2:n.903A>G, NR_144950.1:n.925A>G, NM_001347946.2:c.959A>G, NM_001347946.1:c.959A>G, NM_001347947.2:c.29A>G, NM_001347947.1:c.29A>G, XR_944523.4:n.1067A>G, XR_944523.3:n.1071A>G, XR_944523.2:n.1035A>G, XR_944523.1:n.1044A>G, XR_001748670.3:n.1485A>G, XR_001748670.2:n.1507A>G, XR_001748670.1:n.1507A>G, XM_017019217.2:c.959A>G, XM_017019217.1:c.959A>G, XR_007063070.1:n.1485A>G, NP_054774.2:p.Asn320Ser, NP_113661.2:p.Asn320Ser, NP_001334877.1:p.Asn10Ser, NP_001137251.1:p.Asn320Ser, NP_001334875.1:p.Asn320Ser, NP_001334876.1:p.Asn10Ser, XP_016874706.1:p.Asn320Ser

Select item 147068286613.

rs1470682866 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:110132607 (GRCh38)
12:110570412 (GRCh37)
Canonical SPDI:: NC_000012.12:110132606:T:C
Gene:: IFT81 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.110132607T>C, NC_000012.11:g.110570412T>C, NG_052859.1:g.13273T>C, NM_014055.4:c.490T>C, NM_014055.3:c.490T>C, NM_031473.4:c.490T>C, NM_031473.3:c.490T>C, NR_144952.2:n.1016T>C, NR_144952.1:n.1038T>C, NM_001347948.2:c.-277T>C, NM_001347948.1:c.-277T>C, NR_144951.2:n.598T>C, NR_144951.1:n.620T>C, NM_001143779.2:c.490T>C, NM_001143779.1:c.490T>C, NR_144950.2:n.598T>C, NR_144950.1:n.620T>C, NM_001347946.2:c.490T>C, NM_001347946.1:c.490T>C, NM_001347947.2:c.-277T>C, NM_001347947.1:c.-277T>C, XR_944523.4:n.598T>C, XR_944523.3:n.602T>C, XR_944523.2:n.566T>C, XR_944523.1:n.575T>C, XR_001748670.3:n.1016T>C, XR_001748670.2:n.1038T>C, XR_001748670.1:n.1038T>C, XM_017019217.2:c.490T>C, XM_017019217.1:c.490T>C, XR_007063070.1:n.1016T>C, NP_054774.2:p.Ser164Pro, NP_113661.2:p.Ser164Pro, NP_001137251.1:p.Ser164Pro, NP_001334875.1:p.Ser164Pro, XP_016874706.1:p.Ser164Pro

Select item 146873872014.

rs1468738720 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACTTCGT [Show Flanks]
Chromosome:: 12:110205607 (GRCh38)
12:110643413 (GRCh37)
Canonical SPDI:: NC_000012.12:110205607:AACTTCGT:AACTTCGTAACTTCGT
Gene:: IFT81 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACTTCGTAACTTCGT=0./0 (ALFA)
AACTTCGT=0.000014/2 (GnomAD)
AACTTCGT=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.110205608_110205615dup, NC_000012.11:g.110643413_110643420dup, NG_052859.1:g.86274_86281dup, NM_014055.4:c.1730_1737dup, NM_014055.3:c.1730_1737dup, NR_144952.2:n.2378_2385dup, NR_144952.1:n.2400_2407dup, NR_144949.2:n.2288_2295dup, NR_144949.1:n.2310_2317dup, NM_001347948.2:c.800_807dup, NM_001347948.1:c.800_807dup, NR_144951.2:n.1960_1967dup, NR_144951.1:n.1982_1989dup, NM_001143779.2:c.1730_1737dup, NM_001143779.1:c.1730_1737dup, NR_144950.2:n.1796_1803dup, NR_144950.1:n.1818_1825dup, NM_001347947.2:c.800_807dup, NM_001347947.1:c.800_807dup, XM_017019217.2:c.1730_1737dup, XM_017019217.1:c.1730_1737dup, NP_054774.2:p.Arg580fs, NP_001334877.1:p.Arg270fs, NP_001137251.1:p.Arg580fs, NP_001334876.1:p.Arg270fs, XP_016874706.1:p.Arg580fs

Select item 146833334915.

rs1468333349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:110136828 (GRCh38)
12:110574633 (GRCh37)
Canonical SPDI:: NC_000012.12:110136827:T:C
Gene:: IFT81 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.110136828T>C, NC_000012.11:g.110574633T>C, NG_052859.1:g.17494T>C, NM_014055.4:c.749T>C, NM_014055.3:c.749T>C, NM_031473.4:c.749T>C, NM_031473.3:c.749T>C, NR_144952.2:n.1275T>C, NR_144952.1:n.1297T>C, NR_144949.2:n.1185T>C, NR_144949.1:n.1207T>C, NM_001347948.2:c.-18T>C, NM_001347948.1:c.-18T>C, NR_144951.2:n.857T>C, NR_144951.1:n.879T>C, NM_001143779.2:c.749T>C, NM_001143779.1:c.749T>C, NR_144950.2:n.857T>C, NR_144950.1:n.879T>C, NM_001347946.2:c.749T>C, NM_001347946.1:c.749T>C, NM_001347947.2:c.-18T>C, NM_001347947.1:c.-18T>C, XR_944523.4:n.857T>C, XR_944523.3:n.861T>C, XR_944523.2:n.825T>C, XR_944523.1:n.834T>C, XR_001748670.3:n.1275T>C, XR_001748670.2:n.1297T>C, XR_001748670.1:n.1297T>C, XM_017019217.2:c.749T>C, XM_017019217.1:c.749T>C, XR_007063070.1:n.1275T>C, NP_054774.2:p.Met250Thr, NP_113661.2:p.Met250Thr, NP_001137251.1:p.Met250Thr, NP_001334875.1:p.Met250Thr, XP_016874706.1:p.Met250Thr

Select item 146764220816.

rs1467642208 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:110162979 (GRCh38)
12:110600784 (GRCh37)
Canonical SPDI:: NC_000012.12:110162978:A:G,NC_000012.12:110162978:A:T
Gene:: IFT81 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,stop_gained
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000049/2 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.110162979A>G, NC_000012.12:g.110162979A>T, NC_000012.11:g.110600784A>G, NC_000012.11:g.110600784A>T, NG_052859.1:g.43645A>G, NG_052859.1:g.43645A>T, NM_014055.4:c.1102A>G, NM_014055.4:c.1102A>T, NM_014055.3:c.1102A>G, NM_014055.3:c.1102A>T, NM_031473.4:c.1102A>G, NM_031473.4:c.1102A>T, NM_031473.3:c.1102A>G, NM_031473.3:c.1102A>T, NR_144952.2:n.1750A>G, NR_144952.2:n.1750A>T, NR_144952.1:n.1772A>G, NR_144952.1:n.1772A>T, NR_144949.2:n.1660A>G, NR_144949.2:n.1660A>T, NR_144949.1:n.1682A>G, NR_144949.1:n.1682A>T, NM_001347948.2:c.172A>G, NM_001347948.2:c.172A>T, NM_001347948.1:c.172A>G, NM_001347948.1:c.172A>T, NR_144951.2:n.1332A>G, NR_144951.2:n.1332A>T, NR_144951.1:n.1354A>G, NR_144951.1:n.1354A>T, NM_001143779.2:c.1102A>G, NM_001143779.2:c.1102A>T, NM_001143779.1:c.1102A>G, NM_001143779.1:c.1102A>T, NR_144950.2:n.1168A>G, NR_144950.2:n.1168A>T, NR_144950.1:n.1190A>G, NR_144950.1:n.1190A>T, NM_001347946.2:c.1102A>G, NM_001347946.2:c.1102A>T, NM_001347946.1:c.1102A>G, NM_001347946.1:c.1102A>T, NM_001347947.2:c.172A>G, NM_001347947.2:c.172A>T, NM_001347947.1:c.172A>G, NM_001347947.1:c.172A>T, XR_944523.4:n.1210A>G, XR_944523.4:n.1210A>T, XR_944523.3:n.1214A>G, XR_944523.3:n.1214A>T, XR_944523.2:n.1178A>G, XR_944523.2:n.1178A>T, XR_944523.1:n.1187A>G, XR_944523.1:n.1187A>T, XR_001748670.3:n.1628A>G, XR_001748670.3:n.1628A>T, XR_001748670.2:n.1650A>G, XR_001748670.2:n.1650A>T, XR_001748670.1:n.1650A>G, XR_001748670.1:n.1650A>T, XM_017019217.2:c.1102A>G, XM_017019217.2:c.1102A>T, XM_017019217.1:c.1102A>G, XM_017019217.1:c.1102A>T, XR_007063070.1:n.1628A>G, XR_007063070.1:n.1628A>T, NP_054774.2:p.Lys368Glu, NP_054774.2:p.Lys368Ter, NP_113661.2:p.Lys368Glu, NP_113661.2:p.Lys368Ter, NP_001334877.1:p.Lys58Glu, NP_001334877.1:p.Lys58Ter, NP_001137251.1:p.Lys368Glu, NP_001137251.1:p.Lys368Ter, NP_001334875.1:p.Lys368Glu, NP_001334875.1:p.Lys368Ter, NP_001334876.1:p.Lys58Glu, NP_001334876.1:p.Lys58Ter, XP_016874706.1:p.Lys368Glu, XP_016874706.1:p.Lys368Ter

Select item 146399735117.

rs1463997351 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACTTCGAAGCAA>- [Show Flanks]
Chromosome:: 12:110180441 (GRCh38)
12:110618246 (GRCh37)
Canonical SPDI:: NC_000012.12:110180439:AAACTTCGAAGCAA:A
Gene:: IFT81 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.110180441_110180453del, NC_000012.11:g.110618246_110618258del, NG_052859.1:g.61107_61119del, NM_014055.4:c.1208_1220del, NM_014055.3:c.1208_1220del, NR_144952.2:n.1856_1868del, NR_144952.1:n.1878_1890del, NR_144949.2:n.1766_1778del, NR_144949.1:n.1788_1800del, NM_001347948.2:c.278_290del, NM_001347948.1:c.278_290del, NR_144951.2:n.1438_1450del, NR_144951.1:n.1460_1472del, NM_001143779.2:c.1208_1220del, NM_001143779.1:c.1208_1220del, NR_144950.2:n.1274_1286del, NR_144950.1:n.1296_1308del, NM_001347947.2:c.278_290del, NM_001347947.1:c.278_290del, XR_944523.4:n.1687_1699del, XR_944523.3:n.1691_1703del, XR_944523.2:n.1655_1667del, XR_944523.1:n.1664_1676del, XR_001748670.3:n.2105_2117del, XR_001748670.2:n.2127_2139del, XR_001748670.1:n.2127_2139del, XM_017019217.2:c.1208_1220del, XM_017019217.1:c.1208_1220del, XR_007063070.1:n.1734_1746del, NP_054774.2:p.Lys403fs, NP_001334877.1:p.Lys93fs, NP_001137251.1:p.Lys403fs, NP_001334876.1:p.Lys93fs, XP_016874706.1:p.Lys403fs

Select item 146332959718.

rs1463329597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:110146988 (GRCh38)
12:110584793 (GRCh37)
Canonical SPDI:: NC_000012.12:110146987:T:G
Gene:: IFT81 (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_000012.12:g.110146988T>G, NC_000012.11:g.110584793T>G, NG_052859.1:g.27654T>G, NM_014055.4:c.981T>G, NM_014055.3:c.981T>G, NM_031473.4:c.981T>G, NM_031473.3:c.981T>G, NR_144952.2:n.1507T>G, NR_144952.1:n.1529T>G, NR_144949.2:n.1417T>G, NR_144949.1:n.1439T>G, NM_001347948.2:c.51T>G, NM_001347948.1:c.51T>G, NR_144951.2:n.1089T>G, NR_144951.1:n.1111T>G, NM_001143779.2:c.981T>G, NM_001143779.1:c.981T>G, NR_144950.2:n.925T>G, NR_144950.1:n.947T>G, NM_001347946.2:c.981T>G, NM_001347946.1:c.981T>G, NM_001347947.2:c.51T>G, NM_001347947.1:c.51T>G, XR_944523.4:n.1089T>G, XR_944523.3:n.1093T>G, XR_944523.2:n.1057T>G, XR_944523.1:n.1066T>G, XR_001748670.3:n.1507T>G, XR_001748670.2:n.1529T>G, XR_001748670.1:n.1529T>G, XM_017019217.2:c.981T>G, XM_017019217.1:c.981T>G, XR_007063070.1:n.1507T>G, NP_054774.2:p.Ile327Met, NP_113661.2:p.Ile327Met, NP_001334877.1:p.Ile17Met, NP_001137251.1:p.Ile327Met, NP_001334875.1:p.Ile327Met, NP_001334876.1:p.Ile17Met, XP_016874706.1:p.Ile327Met

Select item 145994972519.

rs1459949725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110134983 (GRCh38)
12:110572788 (GRCh37)
Canonical SPDI:: NC_000012.12:110134982:C:T
Gene:: IFT81 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.110134983C>T, NC_000012.11:g.110572788C>T, NG_052859.1:g.15649C>T, NM_014055.4:c.555C>T, NM_014055.3:c.555C>T, NM_031473.4:c.555C>T, NM_031473.3:c.555C>T, NR_144952.2:n.1081C>T, NR_144952.1:n.1103C>T, NR_144949.2:n.991C>T, NR_144949.1:n.1013C>T, NM_001347948.2:c.-212C>T, NM_001347948.1:c.-212C>T, NR_144951.2:n.663C>T, NR_144951.1:n.685C>T, NM_001143779.2:c.555C>T, NM_001143779.1:c.555C>T, NR_144950.2:n.663C>T, NR_144950.1:n.685C>T, NM_001347946.2:c.555C>T, NM_001347946.1:c.555C>T, NM_001347947.2:c.-212C>T, NM_001347947.1:c.-212C>T, XR_944523.4:n.663C>T, XR_944523.3:n.667C>T, XR_944523.2:n.631C>T, XR_944523.1:n.640C>T, XR_001748670.3:n.1081C>T, XR_001748670.2:n.1103C>T, XR_001748670.1:n.1103C>T, XM_017019217.2:c.555C>T, XM_017019217.1:c.555C>T, XR_007063070.1:n.1081C>T

Select item 145662246820.

rs1456622468 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAT>- [Show Flanks]
Chromosome:: 12:110191034 (GRCh38)
12:110628839 (GRCh37)
Canonical SPDI:: NC_000012.12:110191030:GATGAT:GAT
Gene:: IFT81 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110191031GAT[1], NC_000012.11:g.110628836GAT[1], NG_052859.1:g.71697GAT[1], NM_014055.4:c.1450GAT[1], NM_014055.3:c.1450GAT[1], NR_144952.2:n.2098GAT[1], NR_144952.1:n.2120GAT[1], NR_144949.2:n.2008GAT[1], NR_144949.1:n.2030GAT[1], NM_001347948.2:c.520GAT[1], NM_001347948.1:c.520GAT[1], NR_144951.2:n.1680GAT[1], NR_144951.1:n.1702GAT[1], NM_001143779.2:c.1450GAT[1], NM_001143779.1:c.1450GAT[1], NR_144950.2:n.1516GAT[1], NR_144950.1:n.1538GAT[1], NM_001347947.2:c.520GAT[1], NM_001347947.1:c.520GAT[1], XM_017019217.2:c.1450GAT[1], XM_017019217.1:c.1450GAT[1], XR_007063070.1:n.1976GAT[1], NP_054774.2:p.Asp485del, NP_001334877.1:p.Asp175del, NP_001137251.1:p.Asp485del, NP_001334876.1:p.Asp175del, XP_016874706.1:p.Asp485del

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