SNP Links for Protein (Select 281182828) - SNP

Select item 14848026191.

rs1484802619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118544971 (GRCh38)
11:118415686 (GRCh37)
Canonical SPDI:: NC_000011.10:118544970:G:A
Gene:: IFT46 (Varview), TMEM25 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.001026/17 (TOMMO)
HGVS:: NC_000011.10:g.118544971G>A, NC_000011.9:g.118415686G>A, NW_003871072.2:g.170409G>A, XM_011542905.4:c.1013C>T, XM_011542905.3:c.1013C>T, XM_011542905.2:c.1013C>T, XM_011542905.1:c.1013C>T, XM_011542906.4:c.860C>T, XM_011542906.3:c.860C>T, XM_011542906.2:c.860C>T, XM_011542906.1:c.860C>T, NM_020153.4:c.1013C>T, NM_020153.3:c.1013C>T, XM_017018018.3:c.860C>T, XM_017018018.2:c.860C>T, XM_017018018.1:c.860C>T, XM_017018017.2:c.1013C>T, XM_017018017.1:c.1013C>T, NM_001168618.2:c.860C>T, NM_001168618.1:c.860C>T, XP_011541207.1:p.Pro338Leu, XP_011541208.1:p.Pro287Leu, NP_064538.3:p.Pro338Leu, XP_016873507.1:p.Pro287Leu, XP_016873506.1:p.Pro338Leu, NP_001162089.1:p.Pro287Leu

Select item 14732349952.

rs1473234995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:118551804 (GRCh38)
11:118422519 (GRCh37)
Canonical SPDI:: NC_000011.10:118551803:A:C
Gene:: IFT46 (Varview)
Functional Consequence:: 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_000011.10:g.118551804A>C, NC_000011.9:g.118422519A>C, NW_003871072.2:g.177242A>C, XM_011542905.4:c.807T>G, XM_011542905.3:c.807T>G, XM_011542905.2:c.807T>G, XM_011542905.1:c.807T>G, XM_011542906.4:c.654T>G, XM_011542906.3:c.654T>G, XM_011542906.2:c.654T>G, XM_011542906.1:c.654T>G, NM_020153.4:c.807T>G, NM_020153.3:c.807T>G, XM_017018018.3:c.654T>G, XM_017018018.2:c.654T>G, XM_017018018.1:c.654T>G, XM_017018017.2:c.807T>G, XM_017018017.1:c.807T>G, NM_001168618.2:c.654T>G, NM_001168618.1:c.654T>G, XP_011541207.1:p.Phe269Leu, XP_011541208.1:p.Phe218Leu, NP_064538.3:p.Phe269Leu, XP_016873507.1:p.Phe218Leu, XP_016873506.1:p.Phe269Leu, NP_001162089.1:p.Phe218Leu

Select item 14608541273.

rs1460854127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118545842 (GRCh38)
11:118416557 (GRCh37)
Canonical SPDI:: NC_000011.10:118545841:G:A
Gene:: IFT46 (Varview), TMEM25 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_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_000011.10:g.118545842G>A, NC_000011.9:g.118416557G>A, NW_003871072.2:g.171280G>A, XM_011542905.4:c.837C>T, XM_011542905.3:c.837C>T, XM_011542905.2:c.837C>T, XM_011542905.1:c.837C>T, XM_011542906.4:c.684C>T, XM_011542906.3:c.684C>T, XM_011542906.2:c.684C>T, XM_011542906.1:c.684C>T, NM_020153.4:c.837C>T, NM_020153.3:c.837C>T, XM_017018018.3:c.684C>T, XM_017018018.2:c.684C>T, XM_017018018.1:c.684C>T, XM_017018017.2:c.837C>T, XM_017018017.1:c.837C>T, NM_001168618.2:c.684C>T, NM_001168618.1:c.684C>T

Select item 14577275744.

rs1457727574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:118551786 (GRCh38)
11:118422501 (GRCh37)
Canonical SPDI:: NC_000011.10:118551785:C:G
Gene:: IFT46 (Varview)
Functional Consequence:: 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_000011.10:g.118551786C>G, NC_000011.9:g.118422501C>G, NW_003871072.2:g.177224C>G, XM_011542905.4:c.825G>C, XM_011542905.3:c.825G>C, XM_011542905.2:c.825G>C, XM_011542905.1:c.825G>C, XM_011542906.4:c.672G>C, XM_011542906.3:c.672G>C, XM_011542906.2:c.672G>C, XM_011542906.1:c.672G>C, NM_020153.4:c.825G>C, NM_020153.3:c.825G>C, XM_017018018.3:c.672G>C, XM_017018018.2:c.672G>C, XM_017018018.1:c.672G>C, XM_017018017.2:c.825G>C, XM_017018017.1:c.825G>C, NM_001168618.2:c.672G>C, NM_001168618.1:c.672G>C, XP_011541207.1:p.Lys275Asn, XP_011541208.1:p.Lys224Asn, NP_064538.3:p.Lys275Asn, XP_016873507.1:p.Lys224Asn, XP_016873506.1:p.Lys275Asn, NP_001162089.1:p.Lys224Asn

Select item 14524233695.

rs1452423369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:118556919 (GRCh38)
11:118427634 (GRCh37)
Canonical SPDI:: NC_000011.10:118556918:C:A
Gene:: IFT46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000011.10:g.118556919C>A, NC_000011.9:g.118427634C>A, NW_003871072.2:g.182357C>A, XM_011542905.4:c.325G>T, XM_011542905.3:c.325G>T, XM_011542905.2:c.325G>T, XM_011542905.1:c.325G>T, XM_011542906.4:c.172G>T, XM_011542906.3:c.172G>T, XM_011542906.2:c.172G>T, XM_011542906.1:c.172G>T, NM_020153.4:c.325G>T, NM_020153.3:c.325G>T, XM_017018018.3:c.172G>T, XM_017018018.2:c.172G>T, XM_017018018.1:c.172G>T, XM_017018017.2:c.325G>T, XM_017018017.1:c.325G>T, NM_001168618.2:c.172G>T, NM_001168618.1:c.172G>T, XP_011541207.1:p.Ala109Ser, XP_011541208.1:p.Ala58Ser, NP_064538.3:p.Ala109Ser, XP_016873507.1:p.Ala58Ser, XP_016873506.1:p.Ala109Ser, NP_001162089.1:p.Ala58Ser

Select item 14512907266.

rs1451290726 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:118545478 (GRCh38)
11:118416193 (GRCh37)
Canonical SPDI:: NC_000011.10:118545477:A:C
Gene:: IFT46 (Varview), TMEM25 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118545478A>C, NC_000011.9:g.118416193A>C, NW_003871072.2:g.170916A>C, XM_011542905.4:c.903T>G, XM_011542905.3:c.903T>G, XM_011542905.2:c.903T>G, XM_011542905.1:c.903T>G, XM_011542906.4:c.750T>G, XM_011542906.3:c.750T>G, XM_011542906.2:c.750T>G, XM_011542906.1:c.750T>G, NM_020153.4:c.903T>G, NM_020153.3:c.903T>G, XM_017018018.3:c.750T>G, XM_017018018.2:c.750T>G, XM_017018018.1:c.750T>G, XM_017018017.2:c.903T>G, XM_017018017.1:c.903T>G, NM_001168618.2:c.750T>G, NM_001168618.1:c.750T>G

Select item 14506623597.

rs1450662359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:118544931 (GRCh38)
11:118415646 (GRCh37)
Canonical SPDI:: NC_000011.10:118544930:T:C
Gene:: IFT46 (Varview), TMEM25 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000071/1 (TOMMO)
HGVS:: NC_000011.10:g.118544931T>C, NC_000011.9:g.118415646T>C, NW_003871072.2:g.170369T>C, XM_011542905.4:c.1053A>G, XM_011542905.3:c.1053A>G, XM_011542905.2:c.1053A>G, XM_011542905.1:c.1053A>G, XM_011542906.4:c.900A>G, XM_011542906.3:c.900A>G, XM_011542906.2:c.900A>G, XM_011542906.1:c.900A>G, NM_020153.4:c.1053A>G, NM_020153.3:c.1053A>G, XM_017018018.3:c.900A>G, XM_017018018.2:c.900A>G, XM_017018018.1:c.900A>G, XM_017018017.2:c.1053A>G, XM_017018017.1:c.1053A>G, NM_001168618.2:c.900A>G, NM_001168618.1:c.900A>G

Select item 14441413428.

rs1444141342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118544958 (GRCh38)
11:118415673 (GRCh37)
Canonical SPDI:: NC_000011.10:118544957:G:A
Gene:: IFT46 (Varview), TMEM25 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.118544958G>A, NC_000011.9:g.118415673G>A, NW_003871072.2:g.170396G>A, XM_011542905.4:c.1026C>T, XM_011542905.3:c.1026C>T, XM_011542905.2:c.1026C>T, XM_011542905.1:c.1026C>T, XM_011542906.4:c.873C>T, XM_011542906.3:c.873C>T, XM_011542906.2:c.873C>T, XM_011542906.1:c.873C>T, NM_020153.4:c.1026C>T, NM_020153.3:c.1026C>T, XM_017018018.3:c.873C>T, XM_017018018.2:c.873C>T, XM_017018018.1:c.873C>T, XM_017018017.2:c.1026C>T, XM_017018017.1:c.1026C>T, NM_001168618.2:c.873C>T, NM_001168618.1:c.873C>T

Select item 14395943679.

rs1439594367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:118556915 (GRCh38)
11:118427630 (GRCh37)
Canonical SPDI:: NC_000011.10:118556914:G:A,NC_000011.10:118556914:G:C
Gene:: IFT46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118556915G>A, NC_000011.10:g.118556915G>C, NC_000011.9:g.118427630G>A, NC_000011.9:g.118427630G>C, NW_003871072.2:g.182353G>A, NW_003871072.2:g.182353G>C, XM_011542905.4:c.329C>T, XM_011542905.4:c.329C>G, XM_011542905.3:c.329C>T, XM_011542905.3:c.329C>G, XM_011542905.2:c.329C>T, XM_011542905.2:c.329C>G, XM_011542905.1:c.329C>T, XM_011542905.1:c.329C>G, XM_011542906.4:c.176C>T, XM_011542906.4:c.176C>G, XM_011542906.3:c.176C>T, XM_011542906.3:c.176C>G, XM_011542906.2:c.176C>T, XM_011542906.2:c.176C>G, XM_011542906.1:c.176C>T, XM_011542906.1:c.176C>G, NM_020153.4:c.329C>T, NM_020153.4:c.329C>G, NM_020153.3:c.329C>T, NM_020153.3:c.329C>G, XM_017018018.3:c.176C>T, XM_017018018.3:c.176C>G, XM_017018018.2:c.176C>T, XM_017018018.2:c.176C>G, XM_017018018.1:c.176C>T, XM_017018018.1:c.176C>G, XM_017018017.2:c.329C>T, XM_017018017.2:c.329C>G, XM_017018017.1:c.329C>T, XM_017018017.1:c.329C>G, NM_001168618.2:c.176C>T, NM_001168618.2:c.176C>G, NM_001168618.1:c.176C>T, NM_001168618.1:c.176C>G, XP_011541207.1:p.Pro110Leu, XP_011541207.1:p.Pro110Arg, XP_011541208.1:p.Pro59Leu, XP_011541208.1:p.Pro59Arg, NP_064538.3:p.Pro110Leu, NP_064538.3:p.Pro110Arg, XP_016873507.1:p.Pro59Leu, XP_016873507.1:p.Pro59Arg, XP_016873506.1:p.Pro110Leu, XP_016873506.1:p.Pro110Arg, NP_001162089.1:p.Pro59Leu, NP_001162089.1:p.Pro59Arg

Select item 143917492910.

rs1439174929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:118554515 (GRCh38)
11:118425230 (GRCh37)
Canonical SPDI:: NC_000011.10:118554514:C:G
Gene:: IFT46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000011.10:g.118554515C>G, NC_000011.9:g.118425230C>G, NW_003871072.2:g.179953C>G, XM_011542905.4:c.580G>C, XM_011542905.3:c.580G>C, XM_011542905.2:c.580G>C, XM_011542905.1:c.580G>C, XM_011542906.4:c.427G>C, XM_011542906.3:c.427G>C, XM_011542906.2:c.427G>C, XM_011542906.1:c.427G>C, NM_020153.4:c.580G>C, NM_020153.3:c.580G>C, XM_017018018.3:c.427G>C, XM_017018018.2:c.427G>C, XM_017018018.1:c.427G>C, XM_017018017.2:c.580G>C, XM_017018017.1:c.580G>C, NM_001168618.2:c.427G>C, NM_001168618.1:c.427G>C, XP_011541207.1:p.Asp194His, XP_011541208.1:p.Asp143His, NP_064538.3:p.Asp194His, XP_016873507.1:p.Asp143His, XP_016873506.1:p.Asp194His, NP_001162089.1:p.Asp143His

Select item 143002503411.

rs1430025034 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:118545424 (GRCh38)
11:118416139 (GRCh37)
Canonical SPDI:: NC_000011.10:118545423:T:C
Gene:: IFT46 (Varview), TMEM25 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.118545424T>C, NC_000011.9:g.118416139T>C, NW_003871072.2:g.170862T>C, XM_011542905.4:c.957A>G, XM_011542905.3:c.957A>G, XM_011542905.2:c.957A>G, XM_011542905.1:c.957A>G, XM_011542906.4:c.804A>G, XM_011542906.3:c.804A>G, XM_011542906.2:c.804A>G, XM_011542906.1:c.804A>G, NM_020153.4:c.957A>G, NM_020153.3:c.957A>G, XM_017018018.3:c.804A>G, XM_017018018.2:c.804A>G, XM_017018018.1:c.804A>G, XM_017018017.2:c.957A>G, XM_017018017.1:c.957A>G, NM_001168618.2:c.804A>G, NM_001168618.1:c.804A>G

Select item 141072228512.

rs1410722285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:118559815 (GRCh38)
11:118430530 (GRCh37)
Canonical SPDI:: NC_000011.10:118559814:G:C
Gene:: IFT46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.118559815G>C, NC_000011.9:g.118430530G>C, NW_003871072.2:g.185253G>C, XM_011542905.4:c.15C>G, XM_011542905.3:c.15C>G, XM_011542905.2:c.15C>G, XM_011542905.1:c.15C>G, XM_011542906.4:c.15C>G, XM_011542906.3:c.15C>G, XM_011542906.2:c.15C>G, XM_011542906.1:c.15C>G, NM_020153.4:c.15C>G, NM_020153.3:c.15C>G, XM_017018018.3:c.15C>G, XM_017018018.2:c.15C>G, XM_017018018.1:c.15C>G, XM_017018017.2:c.15C>G, XM_017018017.1:c.15C>G, NM_001168618.2:c.15C>G, NM_001168618.1:c.15C>G, XP_011541207.1:p.Ser5Arg, XP_011541208.1:p.Ser5Arg, NP_064538.3:p.Ser5Arg, XP_016873507.1:p.Ser5Arg, XP_016873506.1:p.Ser5Arg, NP_001162089.1:p.Ser5Arg

Select item 140635414213.

rs1406354142 has merged into rs144091431 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 11:118557042 (GRCh38)
11:118427757 (GRCh37)
Canonical SPDI:: NC_000011.10:118557032:TCTTCTTCTTCT:TCTTCTTCT
Gene:: IFT46 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTCTTCT=0.005971/138 (ALFA)
-=0.003167/758 (GnomAD_exomes)
-=0.004066/450 (ExAC)
-=0.012648/63 (1000Genomes)
-=0.012696/1779 (GnomAD)
-=0.012782/160 (GoESP)
-=0.012883/3410 (TOPMED)
-=0.020586/1620 (PAGE_STUDY)
HGVS:: NC_000011.10:g.118557033TCT[3], NC_000011.9:g.118427748TCT[3], NW_003871072.2:g.182471TCT[3], XM_011542905.4:c.200AGA[3], XM_011542905.3:c.200AGA[3], XM_011542905.2:c.200AGA[3], XM_011542905.1:c.200AGA[3], XM_011542906.4:c.47AGA[3], XM_011542906.3:c.47AGA[3], XM_011542906.2:c.47AGA[3], XM_011542906.1:c.47AGA[3], NM_020153.4:c.200AGA[3], NM_020153.3:c.200AGA[3], XM_017018018.3:c.47AGA[3], XM_017018018.2:c.47AGA[3], XM_017018018.1:c.47AGA[3], XM_017018017.2:c.200AGA[3], XM_017018017.1:c.200AGA[3], NM_001168618.2:c.47AGA[3], NM_001168618.1:c.47AGA[3], XP_011541207.1:p.Lys70del, XP_011541208.1:p.Lys19del, NP_064538.3:p.Lys70del, XP_016873507.1:p.Lys19del, XP_016873506.1:p.Lys70del, NP_001162089.1:p.Lys19del

Select item 140463978114.

rs1404639781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:118557738 (GRCh38)
11:118428453 (GRCh37)
Canonical SPDI:: NC_000011.10:118557737:C:G,NC_000011.10:118557737:C:T
Gene:: IFT46 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.118557738C>G, NC_000011.10:g.118557738C>T, NC_000011.9:g.118428453C>G, NC_000011.9:g.118428453C>T, NW_003871072.2:g.183176C>G, NW_003871072.2:g.183176C>T, XM_011542905.4:c.198G>C, XM_011542905.4:c.198G>A, XM_011542905.3:c.198G>C, XM_011542905.3:c.198G>A, XM_011542905.2:c.198G>C, XM_011542905.2:c.198G>A, XM_011542905.1:c.198G>C, XM_011542905.1:c.198G>A, NM_020153.4:c.198G>C, NM_020153.4:c.198G>A, NM_020153.3:c.198G>C, NM_020153.3:c.198G>A, XM_017018017.2:c.198G>C, XM_017018017.2:c.198G>A, XM_017018017.1:c.198G>C, XM_017018017.1:c.198G>A, XP_011541207.1:p.Lys66Asn, NP_064538.3:p.Lys66Asn, XP_016873506.1:p.Lys66Asn

Select item 140069968715.

rs1400699687 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:118557013 (GRCh38)
11:118427728 (GRCh37)
Canonical SPDI:: NC_000011.10:118557012:T:C
Gene:: IFT46 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000011.10:g.118557013T>C, NC_000011.9:g.118427728T>C, NW_003871072.2:g.182451T>C, XM_011542905.4:c.231A>G, XM_011542905.3:c.231A>G, XM_011542905.2:c.231A>G, XM_011542905.1:c.231A>G, XM_011542906.4:c.78A>G, XM_011542906.3:c.78A>G, XM_011542906.2:c.78A>G, XM_011542906.1:c.78A>G, NM_020153.4:c.231A>G, NM_020153.3:c.231A>G, XM_017018018.3:c.78A>G, XM_017018018.2:c.78A>G, XM_017018018.1:c.78A>G, XM_017018017.2:c.231A>G, XM_017018017.1:c.231A>G, NM_001168618.2:c.78A>G, NM_001168618.1:c.78A>G

Select item 138939200316.

rs1389392003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118545838 (GRCh38)
11:118416553 (GRCh37)
Canonical SPDI:: NC_000011.10:118545837:C:T
Gene:: IFT46 (Varview), TMEM25 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118545838C>T, NC_000011.9:g.118416553C>T, NW_003871072.2:g.171276C>T, XM_011542905.4:c.841G>A, XM_011542905.3:c.841G>A, XM_011542905.2:c.841G>A, XM_011542905.1:c.841G>A, XM_011542906.4:c.688G>A, XM_011542906.3:c.688G>A, XM_011542906.2:c.688G>A, XM_011542906.1:c.688G>A, NM_020153.4:c.841G>A, NM_020153.3:c.841G>A, XM_017018018.3:c.688G>A, XM_017018018.2:c.688G>A, XM_017018018.1:c.688G>A, XM_017018017.2:c.841G>A, XM_017018017.1:c.841G>A, NM_001168618.2:c.688G>A, NM_001168618.1:c.688G>A, XP_011541207.1:p.Ala281Thr, XP_011541208.1:p.Ala230Thr, NP_064538.3:p.Ala281Thr, XP_016873507.1:p.Ala230Thr, XP_016873506.1:p.Ala281Thr, NP_001162089.1:p.Ala230Thr

Select item 138419237617.

rs1384192376 [Homo sapiens]

Variant type:: DEL
Alleles:: ACCCTCTCAA>- [Show Flanks]
Chromosome:: 11:118557772 (GRCh38)
11:118428487 (GRCh37)
Canonical SPDI:: NC_000011.10:118557771:ACCCTCTCAA:
Gene:: IFT46 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.118557772_118557781del, NC_000011.9:g.118428487_118428496del, NW_003871072.2:g.183210_183219del, XM_011542905.4:c.155_164del, XM_011542905.3:c.155_164del, XM_011542905.2:c.155_164del, XM_011542905.1:c.155_164del, NM_020153.4:c.155_164del, NM_020153.3:c.155_164del, XM_017018017.2:c.155_164del, XM_017018017.1:c.155_164del, XP_011541207.1:p.Leu52fs, NP_064538.3:p.Leu52fs, XP_016873506.1:p.Leu52fs

Select item 137776368618.

rs1377763686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:118557798 (GRCh38)
11:118428513 (GRCh37)
Canonical SPDI:: NC_000011.10:118557797:C:A
Gene:: IFT46 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118557798C>A, NC_000011.9:g.118428513C>A, NW_003871072.2:g.183236C>A, XM_011542905.4:c.138G>T, XM_011542905.3:c.138G>T, XM_011542905.2:c.138G>T, XM_011542905.1:c.138G>T, NM_020153.4:c.138G>T, NM_020153.3:c.138G>T, XM_017018017.2:c.138G>T, XM_017018017.1:c.138G>T, XP_011541207.1:p.Gln46His, NP_064538.3:p.Gln46His, XP_016873506.1:p.Gln46His

Select item 137126079119.

rs1371260791 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:118554466 (GRCh38)
11:118425181 (GRCh37)
Canonical SPDI:: NC_000011.10:118554465:T:C
Gene:: IFT46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000011.10:g.118554466T>C, NC_000011.9:g.118425181T>C, NW_003871072.2:g.179904T>C, XM_011542905.4:c.629A>G, XM_011542905.3:c.629A>G, XM_011542905.2:c.629A>G, XM_011542905.1:c.629A>G, XM_011542906.4:c.476A>G, XM_011542906.3:c.476A>G, XM_011542906.2:c.476A>G, XM_011542906.1:c.476A>G, NM_020153.4:c.629A>G, NM_020153.3:c.629A>G, XM_017018018.3:c.476A>G, XM_017018018.2:c.476A>G, XM_017018018.1:c.476A>G, XM_017018017.2:c.629A>G, XM_017018017.1:c.629A>G, NM_001168618.2:c.476A>G, NM_001168618.1:c.476A>G, XP_011541207.1:p.Asn210Ser, XP_011541208.1:p.Asn159Ser, NP_064538.3:p.Asn210Ser, XP_016873507.1:p.Asn159Ser, XP_016873506.1:p.Asn210Ser, NP_001162089.1:p.Asn159Ser

Select item 137107421920.

rs1371074219 has merged into rs781847196 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATC>-,ATCATC [Show Flanks]
Chromosome:: 11:118556983 (GRCh38)
11:118427698 (GRCh37)
Canonical SPDI:: NC_000011.10:118556967:ATCATCATCATCATCATC:ATCATCATCATCATC,NC_000011.10:118556967:ATCATCATCATCATCATC:ATCATCATCATCATCATCATC
Gene:: IFT46 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: ATCATCATCATCATC=0.001302/30 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.118556968ATC[5], NC_000011.10:g.118556968ATC[7], NC_000011.9:g.118427683ATC[5], NC_000011.9:g.118427683ATC[7], NW_003871072.2:g.182406ATC[5], NW_003871072.2:g.182406ATC[7], XM_011542905.4:c.259GAT[5], XM_011542905.4:c.259GAT[7], XM_011542905.3:c.259GAT[5], XM_011542905.3:c.259GAT[7], XM_011542905.2:c.259GAT[5], XM_011542905.2:c.259GAT[7], XM_011542905.1:c.259GAT[5], XM_011542905.1:c.259GAT[7], XM_011542906.4:c.106GAT[5], XM_011542906.4:c.106GAT[7], XM_011542906.3:c.106GAT[5], XM_011542906.3:c.106GAT[7], XM_011542906.2:c.106GAT[5], XM_011542906.2:c.106GAT[7], XM_011542906.1:c.106GAT[5], XM_011542906.1:c.106GAT[7], NM_020153.4:c.259GAT[5], NM_020153.4:c.259GAT[7], NM_020153.3:c.259GAT[5], NM_020153.3:c.259GAT[7], XM_017018018.3:c.106GAT[5], XM_017018018.3:c.106GAT[7], XM_017018018.2:c.106GAT[5], XM_017018018.2:c.106GAT[7], XM_017018018.1:c.106GAT[5], XM_017018018.1:c.106GAT[7], XM_017018017.2:c.259GAT[5], XM_017018017.2:c.259GAT[7], XM_017018017.1:c.259GAT[5], XM_017018017.1:c.259GAT[7], NM_001168618.2:c.106GAT[5], NM_001168618.2:c.106GAT[7], NM_001168618.1:c.106GAT[5], NM_001168618.1:c.106GAT[7], XP_011541207.1:p.Asp92del, XP_011541207.1:p.Asp92dup, XP_011541208.1:p.Asp41del, XP_011541208.1:p.Asp41dup, NP_064538.3:p.Asp92del, NP_064538.3:p.Asp92dup, XP_016873507.1:p.Asp41del, XP_016873507.1:p.Asp41dup, XP_016873506.1:p.Asp92del, XP_016873506.1:p.Asp92dup, NP_001162089.1:p.Asp41del, NP_001162089.1:p.Asp41dup

dbSNP

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Result Filters

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Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 256

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