SNP Links for Protein (Select 987996608) - SNP

Links from Protein

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Select item 14858270371.

rs1485827037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:169803305 (GRCh38)
1:169772446 (GRCh37)
Canonical SPDI:: NC_000001.11:169803304:G:A,NC_000001.11:169803304:G:T
Gene:: C1orf112 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.169803305G>A, NC_000001.11:g.169803305G>T, NC_000001.10:g.169772446G>A, NC_000001.10:g.169772446G>T, NM_018186.3:c.308G>A, NM_018186.3:c.308G>T, NM_001320047.2:c.308G>A, NM_001320047.2:c.308G>T, NM_001320047.1:c.308G>A, NM_001320047.1:c.308G>T, NM_001363739.2:c.-646G>A, NM_001363739.2:c.-646G>T, NM_001363739.1:c.-646G>A, NM_001363739.1:c.-646G>T, NM_001320048.2:c.-61G>A, NM_001320048.2:c.-61G>T, NM_001320048.1:c.-61G>A, NM_001320048.1:c.-61G>T, NM_018186.2:c.308G>A, NM_018186.2:c.308G>T, XM_017001723.2:c.482G>A, XM_017001723.2:c.482G>T, XM_017001723.1:c.482G>A, XM_017001723.1:c.482G>T, XR_921872.2:n.545G>A, XR_921872.2:n.545G>T, XR_921872.1:n.580G>A, XR_921872.1:n.580G>T, NM_001320051.2:c.308G>A, NM_001320051.2:c.308G>T, NM_001320051.1:c.308G>A, NM_001320051.1:c.308G>T, NM_001320050.2:c.482G>A, NM_001320050.2:c.482G>T, NM_001320050.1:c.482G>A, NM_001320050.1:c.482G>T, NM_001366770.1:c.482G>A, NM_001366770.1:c.482G>T, XM_047424751.1:c.308G>A, XM_047424751.1:c.308G>T, NM_001366771.1:c.-785G>A, NM_001366771.1:c.-785G>T, XM_047424743.1:c.308G>A, XM_047424743.1:c.308G>T, XM_047424762.1:c.308G>A, XM_047424762.1:c.308G>T, XM_047424770.1:c.221G>A, XM_047424770.1:c.221G>T, XM_047424760.1:c.308G>A, XM_047424760.1:c.308G>T, NR_159440.1:n.545G>A, NR_159440.1:n.545G>T, NM_001366769.1:c.482G>A, NM_001366769.1:c.482G>T, XM_047424752.1:c.308G>A, XM_047424752.1:c.308G>T, XM_047424759.1:c.308G>A, XM_047424759.1:c.308G>T, NM_001366768.1:c.221G>A, NM_001366768.1:c.221G>T, NM_001366772.1:c.-486G>A, NM_001366772.1:c.-486G>T, NM_001366773.1:c.-523G>A, NM_001366773.1:c.-523G>T, NP_001306976.1:p.Cys103Tyr, NP_001306976.1:p.Cys103Phe, XP_016857212.1:p.Cys161Tyr, XP_016857212.1:p.Cys161Phe, NP_001306980.1:p.Cys103Tyr, NP_001306980.1:p.Cys103Phe, NP_001306979.1:p.Cys161Tyr, NP_001306979.1:p.Cys161Phe, NP_001353699.1:p.Cys161Tyr, NP_001353699.1:p.Cys161Phe, XP_047280707.1:p.Cys103Tyr, XP_047280707.1:p.Cys103Phe, XP_047280699.1:p.Cys103Tyr, XP_047280699.1:p.Cys103Phe, XP_047280718.1:p.Cys103Tyr, XP_047280718.1:p.Cys103Phe, XP_047280726.1:p.Cys74Tyr, XP_047280726.1:p.Cys74Phe, XP_047280716.1:p.Cys103Tyr, XP_047280716.1:p.Cys103Phe, NP_001353698.1:p.Cys161Tyr, NP_001353698.1:p.Cys161Phe, XP_047280708.1:p.Cys103Tyr, XP_047280708.1:p.Cys103Phe, XP_047280715.1:p.Cys103Tyr, XP_047280715.1:p.Cys103Phe, NP_001353697.1:p.Cys74Tyr, NP_001353697.1:p.Cys74Phe

Select item 14805911582.

rs1480591158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:169803243 (GRCh38)
1:169772384 (GRCh37)
Canonical SPDI:: NC_000001.11:169803242:G:A
Gene:: C1orf112 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_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_000001.11:g.169803243G>A, NC_000001.10:g.169772384G>A, NM_018186.3:c.246G>A, NM_001320047.2:c.246G>A, NM_001320047.1:c.246G>A, NM_001363739.2:c.-708G>A, NM_001363739.1:c.-708G>A, NM_001320048.2:c.-123G>A, NM_001320048.1:c.-123G>A, NM_018186.2:c.246G>A, XM_017001723.2:c.420G>A, XM_017001723.1:c.420G>A, XR_921872.2:n.483G>A, XR_921872.1:n.518G>A, NM_001320051.2:c.246G>A, NM_001320051.1:c.246G>A, NM_001320050.2:c.420G>A, NM_001320050.1:c.420G>A, NM_001366770.1:c.420G>A, XM_047424751.1:c.246G>A, NM_001366771.1:c.-847G>A, XM_047424743.1:c.246G>A, XM_047424762.1:c.246G>A, XM_047424770.1:c.159G>A, XM_047424760.1:c.246G>A, NR_159440.1:n.483G>A, NM_001366769.1:c.420G>A, XM_047424752.1:c.246G>A, XM_047424759.1:c.246G>A, NM_001366768.1:c.159G>A, NM_001366772.1:c.-548G>A, NM_001366773.1:c.-585G>A

Select item 14801417583.

rs1480141758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:169795200 (GRCh38)
1:169764341 (GRCh37)
Canonical SPDI:: NC_000001.11:169795199:T:C
Gene:: C1orf112 (Varview), METTL18 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.169795200T>C, NC_000001.10:g.169764341T>C, NM_001363739.2:c.-1030T>C, NM_001363739.1:c.-1030T>C, NM_001320048.2:c.-356T>C, NM_001320048.1:c.-356T>C, XM_017001723.2:c.98T>C, XM_017001723.1:c.98T>C, XR_921872.2:n.161T>C, XR_921872.1:n.196T>C, NM_001320050.2:c.98T>C, NM_001320050.1:c.98T>C, NM_001366770.1:c.98T>C, NM_001366771.1:c.-1169T>C, NR_159440.1:n.161T>C, NM_001366769.1:c.98T>C, NM_001366768.1:c.-75T>C, NM_001366772.1:c.-870T>C, NM_001366773.1:c.-818T>C, XP_016857212.1:p.Leu33Pro, NP_001306979.1:p.Leu33Pro, NP_001353699.1:p.Leu33Pro, NP_001353698.1:p.Leu33Pro

Select item 14733925534.

rs1473392553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:169803235 (GRCh38)
1:169772376 (GRCh37)
Canonical SPDI:: NC_000001.11:169803234:A:G
Gene:: C1orf112 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.169803235A>G, NC_000001.10:g.169772376A>G, NM_018186.3:c.238A>G, NM_001320047.2:c.238A>G, NM_001320047.1:c.238A>G, NM_001363739.2:c.-716A>G, NM_001363739.1:c.-716A>G, NM_001320048.2:c.-131A>G, NM_001320048.1:c.-131A>G, NM_018186.2:c.238A>G, XM_017001723.2:c.412A>G, XM_017001723.1:c.412A>G, XR_921872.2:n.475A>G, XR_921872.1:n.510A>G, NM_001320051.2:c.238A>G, NM_001320051.1:c.238A>G, NM_001320050.2:c.412A>G, NM_001320050.1:c.412A>G, NM_001366770.1:c.412A>G, XM_047424751.1:c.238A>G, NM_001366771.1:c.-855A>G, XM_047424743.1:c.238A>G, XM_047424762.1:c.238A>G, XM_047424770.1:c.151A>G, XM_047424760.1:c.238A>G, NR_159440.1:n.475A>G, NM_001366769.1:c.412A>G, XM_047424752.1:c.238A>G, XM_047424759.1:c.238A>G, NM_001366768.1:c.151A>G, NM_001366772.1:c.-556A>G, NM_001366773.1:c.-593A>G, NP_001306976.1:p.Ile80Val, XP_016857212.1:p.Ile138Val, NP_001306980.1:p.Ile80Val, NP_001306979.1:p.Ile138Val, NP_001353699.1:p.Ile138Val, XP_047280707.1:p.Ile80Val, XP_047280699.1:p.Ile80Val, XP_047280718.1:p.Ile80Val, XP_047280726.1:p.Ile51Val, XP_047280716.1:p.Ile80Val, NP_001353698.1:p.Ile138Val, XP_047280708.1:p.Ile80Val, XP_047280715.1:p.Ile80Val, NP_001353697.1:p.Ile51Val

Select item 14706587005.

rs1470658700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:169795130 (GRCh38)
1:169764271 (GRCh37)
Canonical SPDI:: NC_000001.11:169795129:A:G
Gene:: C1orf112 (Varview), METTL18 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.169795130A>G, NC_000001.10:g.169764271A>G, NM_001363739.2:c.-1100A>G, NM_001363739.1:c.-1100A>G, NM_001320048.2:c.-426A>G, NM_001320048.1:c.-426A>G, XM_017001723.2:c.28A>G, XM_017001723.1:c.28A>G, XR_921872.2:n.91A>G, XR_921872.1:n.126A>G, NM_001320050.2:c.28A>G, NM_001320050.1:c.28A>G, NM_001366770.1:c.28A>G, NM_001366771.1:c.-1239A>G, NR_159440.1:n.91A>G, NM_001366769.1:c.28A>G, NM_001366768.1:c.-145A>G, NM_001366772.1:c.-940A>G, NM_001366773.1:c.-888A>G, XP_016857212.1:p.Ser10Gly, NP_001306979.1:p.Ser10Gly, NP_001353699.1:p.Ser10Gly, NP_001353698.1:p.Ser10Gly

Select item 14651768056.

rs1465176805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:169795148 (GRCh38)
1:169764289 (GRCh37)
Canonical SPDI:: NC_000001.11:169795147:G:A,NC_000001.11:169795147:G:C
Gene:: C1orf112 (Varview), METTL18 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.169795148G>A, NC_000001.11:g.169795148G>C, NC_000001.10:g.169764289G>A, NC_000001.10:g.169764289G>C, NM_001363739.2:c.-1082G>A, NM_001363739.2:c.-1082G>C, NM_001363739.1:c.-1082G>A, NM_001363739.1:c.-1082G>C, NM_001320048.2:c.-408G>A, NM_001320048.2:c.-408G>C, NM_001320048.1:c.-408G>A, NM_001320048.1:c.-408G>C, XM_017001723.2:c.46G>A, XM_017001723.2:c.46G>C, XM_017001723.1:c.46G>A, XM_017001723.1:c.46G>C, XR_921872.2:n.109G>A, XR_921872.2:n.109G>C, XR_921872.1:n.144G>A, XR_921872.1:n.144G>C, NM_001320050.2:c.46G>A, NM_001320050.2:c.46G>C, NM_001320050.1:c.46G>A, NM_001320050.1:c.46G>C, NM_001366770.1:c.46G>A, NM_001366770.1:c.46G>C, NM_001366771.1:c.-1221G>A, NM_001366771.1:c.-1221G>C, NR_159440.1:n.109G>A, NR_159440.1:n.109G>C, NM_001366769.1:c.46G>A, NM_001366769.1:c.46G>C, NM_001366768.1:c.-127G>A, NM_001366768.1:c.-127G>C, NM_001366772.1:c.-922G>A, NM_001366772.1:c.-922G>C, NM_001366773.1:c.-870G>A, NM_001366773.1:c.-870G>C, XP_016857212.1:p.Glu16Lys, XP_016857212.1:p.Glu16Gln, NP_001306979.1:p.Glu16Lys, NP_001306979.1:p.Glu16Gln, NP_001353699.1:p.Glu16Lys, NP_001353699.1:p.Glu16Gln, NP_001353698.1:p.Glu16Lys, NP_001353698.1:p.Glu16Gln

Select item 14645426167.

rs1464542616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:169795127 (GRCh38)
1:169764268 (GRCh37)
Canonical SPDI:: NC_000001.11:169795126:G:A
Gene:: C1orf112 (Varview), METTL18 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant
HGVS:: NC_000001.11:g.169795127G>A, NC_000001.10:g.169764268G>A, NM_001363739.2:c.-1103G>A, NM_001363739.1:c.-1103G>A, NM_001320048.2:c.-429G>A, NM_001320048.1:c.-429G>A, XM_017001723.2:c.25G>A, XM_017001723.1:c.25G>A, XR_921872.2:n.88G>A, XR_921872.1:n.123G>A, NM_001320050.2:c.25G>A, NM_001320050.1:c.25G>A, NM_001366770.1:c.25G>A, NM_001366771.1:c.-1242G>A, NR_159440.1:n.88G>A, NM_001366769.1:c.25G>A, NM_001366768.1:c.-148G>A, NM_001366772.1:c.-943G>A, NM_001366773.1:c.-891G>A, XP_016857212.1:p.Ala9Thr, NP_001306979.1:p.Ala9Thr, NP_001353699.1:p.Ala9Thr, NP_001353698.1:p.Ala9Thr

Select item 14618479268.

rs1461847926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:169803170 (GRCh38)
1:169772311 (GRCh37)
Canonical SPDI:: NC_000001.11:169803169:C:T
Gene:: C1orf112 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.169803170C>T, NC_000001.10:g.169772311C>T, NM_018186.3:c.173C>T, NM_001320047.2:c.173C>T, NM_001320047.1:c.173C>T, NM_001363739.2:c.-781C>T, NM_001363739.1:c.-781C>T, NM_001320048.2:c.-196C>T, NM_001320048.1:c.-196C>T, NM_018186.2:c.173C>T, XM_017001723.2:c.347C>T, XM_017001723.1:c.347C>T, XR_921872.2:n.410C>T, XR_921872.1:n.445C>T, NM_001320051.2:c.173C>T, NM_001320051.1:c.173C>T, NM_001320050.2:c.347C>T, NM_001320050.1:c.347C>T, NM_001366770.1:c.347C>T, XM_047424751.1:c.173C>T, NM_001366771.1:c.-920C>T, XM_047424743.1:c.173C>T, XM_047424762.1:c.173C>T, XM_047424770.1:c.86C>T, XM_047424760.1:c.173C>T, NR_159440.1:n.410C>T, NM_001366769.1:c.347C>T, XM_047424752.1:c.173C>T, XM_047424759.1:c.173C>T, NM_001366768.1:c.86C>T, NM_001366772.1:c.-621C>T, NM_001366773.1:c.-658C>T, NP_001306976.1:p.Thr58Ile, XP_016857212.1:p.Thr116Ile, NP_001306980.1:p.Thr58Ile, NP_001306979.1:p.Thr116Ile, NP_001353699.1:p.Thr116Ile, XP_047280707.1:p.Thr58Ile, XP_047280699.1:p.Thr58Ile, XP_047280718.1:p.Thr58Ile, XP_047280726.1:p.Thr29Ile, XP_047280716.1:p.Thr58Ile, NP_001353698.1:p.Thr116Ile, XP_047280708.1:p.Thr58Ile, XP_047280715.1:p.Thr58Ile, NP_001353697.1:p.Thr29Ile

Select item 14599577169.

rs1459957716 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:169798932 (GRCh38)
1:169768073 (GRCh37)
Canonical SPDI:: NC_000001.11:169798931:A:G
Gene:: C1orf112 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000061/8 (GnomAD_exomes)
HGVS:: NC_000001.11:g.169798932A>G, NC_000001.10:g.169768073A>G, NM_018186.3:c.-50A>G, NM_001320047.2:c.-50A>G, NM_001320047.1:c.-50A>G, NM_001363739.2:c.-1003A>G, NM_001363739.1:c.-1003A>G, NM_001320048.2:c.-329A>G, NM_001320048.1:c.-329A>G, NM_018186.2:c.-50A>G, XM_017001723.2:c.125A>G, XM_017001723.1:c.125A>G, XR_921872.2:n.188A>G, XR_921872.1:n.223A>G, NM_001320051.2:c.-50A>G, NM_001320051.1:c.-50A>G, NM_001320050.2:c.125A>G, NM_001320050.1:c.125A>G, NM_001366770.1:c.125A>G, XM_047424751.1:c.-50A>G, NM_001366771.1:c.-1142A>G, XM_047424743.1:c.-50A>G, XM_047424762.1:c.-50A>G, XM_047424770.1:c.-48A>G, XM_047424760.1:c.-50A>G, NR_159440.1:n.188A>G, NM_001366769.1:c.125A>G, XM_047424752.1:c.-50A>G, XM_047424759.1:c.-50A>G, NM_001366768.1:c.-48A>G, NM_001366772.1:c.-843A>G, NM_001366773.1:c.-791A>G, XP_016857212.1:p.His42Arg, NP_001306979.1:p.His42Arg, NP_001353699.1:p.His42Arg, NP_001353698.1:p.His42Arg

Select item 145048818410.

rs1450488184 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:169804149 (GRCh38)
1:169773290 (GRCh37)
Canonical SPDI:: NC_000001.11:169804148:TT:
Gene:: C1orf112 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.169804149_169804150del, NC_000001.10:g.169773290_169773291del, NM_018186.3:c.387_388del, NM_001320047.2:c.387_388del, NM_001320047.1:c.387_388del, NM_001363739.2:c.-567_-566del, NM_001363739.1:c.-567_-566del, NM_001320048.2:c.-19_-18del, NM_001320048.1:c.-19_-18del, NM_018186.2:c.387_388del, XM_017001723.2:c.561_562del, XM_017001723.1:c.561_562del, XR_921872.2:n.624_625del, XR_921872.1:n.659_660del, NM_001320051.2:c.387_388del, NM_001320051.1:c.387_388del, NM_001320050.2:c.524_525del, NM_001320050.1:c.524_525del, NM_001366770.1:c.561_562del, XM_047424751.1:c.387_388del, NM_001366771.1:c.-706_-705del, XM_047424743.1:c.387_388del, XM_047424762.1:c.387_388del, XM_047424770.1:c.300_301del, XM_047424760.1:c.387_388del, NR_159440.1:n.587_588del, NM_001366769.1:c.561_562del, XM_047424752.1:c.387_388del, XM_047424759.1:c.387_388del, NM_001366768.1:c.300_301del, NM_001366772.1:c.-444_-443del, NM_001366773.1:c.-444_-443del, NP_001306976.1:p.Leu131fs, XP_016857212.1:p.Leu189fs, NP_001306980.1:p.Leu131fs, NP_001306979.1:p.Ile175fs, NP_001353699.1:p.Leu189fs, XP_047280707.1:p.Leu131fs, XP_047280699.1:p.Leu131fs, XP_047280718.1:p.Leu131fs, XP_047280726.1:p.Leu102fs, XP_047280716.1:p.Leu131fs, NP_001353698.1:p.Leu189fs, XP_047280708.1:p.Leu131fs, XP_047280715.1:p.Leu131fs, NP_001353697.1:p.Leu102fs

Select item 143938903011.

rs1439389030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:169804143 (GRCh38)
1:169773284 (GRCh37)
Canonical SPDI:: NC_000001.11:169804142:G:T
Gene:: C1orf112 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.169804143G>T, NC_000001.10:g.169773284G>T, NM_018186.3:c.381G>T, NM_001320047.2:c.381G>T, NM_001320047.1:c.381G>T, NM_001363739.2:c.-573G>T, NM_001363739.1:c.-573G>T, NM_001320048.2:c.-25G>T, NM_001320048.1:c.-25G>T, NM_018186.2:c.381G>T, XM_017001723.2:c.555G>T, XM_017001723.1:c.555G>T, XR_921872.2:n.618G>T, XR_921872.1:n.653G>T, NM_001320051.2:c.381G>T, NM_001320051.1:c.381G>T, NM_001320050.2:c.518G>T, NM_001320050.1:c.518G>T, NM_001366770.1:c.555G>T, XM_047424751.1:c.381G>T, NM_001366771.1:c.-712G>T, XM_047424743.1:c.381G>T, XM_047424762.1:c.381G>T, XM_047424770.1:c.294G>T, XM_047424760.1:c.381G>T, NR_159440.1:n.581G>T, NM_001366769.1:c.555G>T, XM_047424752.1:c.381G>T, XM_047424759.1:c.381G>T, NM_001366768.1:c.294G>T, NM_001366772.1:c.-450G>T, NM_001366773.1:c.-450G>T, NP_001306976.1:p.Glu127Asp, XP_016857212.1:p.Glu185Asp, NP_001306980.1:p.Glu127Asp, NP_001306979.1:p.Arg173Met, NP_001353699.1:p.Glu185Asp, XP_047280707.1:p.Glu127Asp, XP_047280699.1:p.Glu127Asp, XP_047280718.1:p.Glu127Asp, XP_047280726.1:p.Glu98Asp, XP_047280716.1:p.Glu127Asp, NP_001353698.1:p.Glu185Asp, XP_047280708.1:p.Glu127Asp, XP_047280715.1:p.Glu127Asp, NP_001353697.1:p.Glu98Asp

Select item 143194839812.

rs1431948398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:169800896 (GRCh38)
1:169770037 (GRCh37)
Canonical SPDI:: NC_000001.11:169800895:T:A,NC_000001.11:169800895:T:C
Gene:: C1orf112 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.169800896T>A, NC_000001.11:g.169800896T>C, NC_000001.10:g.169770037T>A, NC_000001.10:g.169770037T>C, NM_018186.3:c.-10T>A, NM_018186.3:c.-10T>C, NM_001320047.2:c.-10T>A, NM_001320047.2:c.-10T>C, NM_001320047.1:c.-10T>A, NM_001320047.1:c.-10T>C, NM_001363739.2:c.-963T>A, NM_001363739.2:c.-963T>C, NM_001363739.1:c.-963T>A, NM_001363739.1:c.-963T>C, NM_018186.2:c.-10T>A, NM_018186.2:c.-10T>C, XM_017001723.2:c.165T>A, XM_017001723.2:c.165T>C, XM_017001723.1:c.165T>A, XM_017001723.1:c.165T>C, XR_921872.2:n.228T>A, XR_921872.2:n.228T>C, XR_921872.1:n.263T>A, XR_921872.1:n.263T>C, NM_001320051.2:c.-10T>A, NM_001320051.2:c.-10T>C, NM_001320051.1:c.-10T>A, NM_001320051.1:c.-10T>C, NM_001320050.2:c.165T>A, NM_001320050.2:c.165T>C, NM_001320050.1:c.165T>A, NM_001320050.1:c.165T>C, NM_001366770.1:c.165T>A, NM_001366770.1:c.165T>C, XM_047424751.1:c.-10T>A, XM_047424751.1:c.-10T>C, NM_001366771.1:c.-1102T>A, NM_001366771.1:c.-1102T>C, XM_047424743.1:c.-10T>A, XM_047424743.1:c.-10T>C, XM_047424762.1:c.-10T>A, XM_047424762.1:c.-10T>C, XM_047424760.1:c.-10T>A, XM_047424760.1:c.-10T>C, NR_159440.1:n.228T>A, NR_159440.1:n.228T>C, NM_001366769.1:c.165T>A, NM_001366769.1:c.165T>C, XM_047424752.1:c.-10T>A, XM_047424752.1:c.-10T>C, XM_047424759.1:c.-10T>A, XM_047424759.1:c.-10T>C, NM_001366772.1:c.-803T>A, NM_001366772.1:c.-803T>C

Select item 143134917513.

rs1431349175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:169795207 (GRCh38)
1:169764348 (GRCh37)
Canonical SPDI:: NC_000001.11:169795206:A:T
Gene:: C1orf112 (Varview), METTL18 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.169795207A>T, NC_000001.10:g.169764348A>T, NM_001363739.2:c.-1023A>T, NM_001363739.1:c.-1023A>T, NM_001320048.2:c.-349A>T, NM_001320048.1:c.-349A>T, XM_017001723.2:c.105A>T, XM_017001723.1:c.105A>T, XR_921872.2:n.168A>T, XR_921872.1:n.203A>T, NM_001320050.2:c.105A>T, NM_001320050.1:c.105A>T, NM_001366770.1:c.105A>T, NM_001366771.1:c.-1162A>T, NR_159440.1:n.168A>T, NM_001366769.1:c.105A>T, NM_001366768.1:c.-68A>T, NM_001366772.1:c.-863A>T, NM_001366773.1:c.-811A>T

Select item 141557503714.

rs1415575037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:169795155 (GRCh38)
1:169764296 (GRCh37)
Canonical SPDI:: NC_000001.11:169795154:G:A
Gene:: C1orf112 (Varview), METTL18 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.169795155G>A, NC_000001.10:g.169764296G>A, NM_001363739.2:c.-1075G>A, NM_001363739.1:c.-1075G>A, NM_001320048.2:c.-401G>A, NM_001320048.1:c.-401G>A, XM_017001723.2:c.53G>A, XM_017001723.1:c.53G>A, XR_921872.2:n.116G>A, XR_921872.1:n.151G>A, NM_001320050.2:c.53G>A, NM_001320050.1:c.53G>A, NM_001366770.1:c.53G>A, NM_001366771.1:c.-1214G>A, NR_159440.1:n.116G>A, NM_001366769.1:c.53G>A, NM_001366768.1:c.-120G>A, NM_001366772.1:c.-915G>A, NM_001366773.1:c.-863G>A, XP_016857212.1:p.Ser18Asn, NP_001306979.1:p.Ser18Asn, NP_001353699.1:p.Ser18Asn, NP_001353698.1:p.Ser18Asn

Select item 141117081015.

rs1411170810 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:169802715 (GRCh38)
1:169771856 (GRCh37)
Canonical SPDI:: NC_000001.11:169802714:A:G
Gene:: C1orf112 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.169802715A>G, NC_000001.10:g.169771856A>G, NM_018186.3:c.161A>G, NM_001320047.2:c.161A>G, NM_001320047.1:c.161A>G, NM_001363739.2:c.-793A>G, NM_001363739.1:c.-793A>G, NM_001320048.2:c.-208A>G, NM_001320048.1:c.-208A>G, NM_018186.2:c.161A>G, XM_017001723.2:c.335A>G, XM_017001723.1:c.335A>G, XR_921872.2:n.398A>G, XR_921872.1:n.433A>G, NM_001320051.2:c.161A>G, NM_001320051.1:c.161A>G, NM_001320050.2:c.335A>G, NM_001320050.1:c.335A>G, NM_001366770.1:c.335A>G, XM_047424751.1:c.161A>G, NM_001366771.1:c.-932A>G, XM_047424743.1:c.161A>G, XM_047424762.1:c.161A>G, XM_047424770.1:c.74A>G, XM_047424760.1:c.161A>G, NR_159440.1:n.398A>G, NM_001366769.1:c.335A>G, XM_047424752.1:c.161A>G, XM_047424759.1:c.161A>G, NM_001366768.1:c.74A>G, NM_001366772.1:c.-633A>G, NM_001366773.1:c.-670A>G, NP_001306976.1:p.Asn54Ser, XP_016857212.1:p.Asn112Ser, NP_001306980.1:p.Asn54Ser, NP_001306979.1:p.Asn112Ser, NP_001353699.1:p.Asn112Ser, XP_047280707.1:p.Asn54Ser, XP_047280699.1:p.Asn54Ser, XP_047280718.1:p.Asn54Ser, XP_047280726.1:p.Asn25Ser, XP_047280716.1:p.Asn54Ser, NP_001353698.1:p.Asn112Ser, XP_047280708.1:p.Asn54Ser, XP_047280715.1:p.Asn54Ser, NP_001353697.1:p.Asn25Ser

Select item 140790005916.

rs1407900059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:169802628 (GRCh38)
1:169771769 (GRCh37)
Canonical SPDI:: NC_000001.11:169802627:A:G
Gene:: C1orf112 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.169802628A>G, NC_000001.10:g.169771769A>G, NM_018186.3:c.74A>G, NM_001320047.2:c.74A>G, NM_001320047.1:c.74A>G, NM_001363739.2:c.-880A>G, NM_001363739.1:c.-880A>G, NM_001320048.2:c.-295A>G, NM_001320048.1:c.-295A>G, NM_018186.2:c.74A>G, XM_017001723.2:c.248A>G, XM_017001723.1:c.248A>G, XR_921872.2:n.311A>G, XR_921872.1:n.346A>G, NM_001320051.2:c.74A>G, NM_001320051.1:c.74A>G, NM_001320050.2:c.248A>G, NM_001320050.1:c.248A>G, NM_001366770.1:c.248A>G, XM_047424751.1:c.74A>G, NM_001366771.1:c.-1019A>G, XM_047424743.1:c.74A>G, XM_047424762.1:c.74A>G, XM_047424770.1:c.-14A>G, XM_047424760.1:c.74A>G, NR_159440.1:n.311A>G, NM_001366769.1:c.248A>G, XM_047424752.1:c.74A>G, XM_047424759.1:c.74A>G, NM_001366768.1:c.-14A>G, NM_001366772.1:c.-720A>G, NM_001366773.1:c.-757A>G, NP_001306976.1:p.Lys25Arg, XP_016857212.1:p.Lys83Arg, NP_001306980.1:p.Lys25Arg, NP_001306979.1:p.Lys83Arg, NP_001353699.1:p.Lys83Arg, XP_047280707.1:p.Lys25Arg, XP_047280699.1:p.Lys25Arg, XP_047280718.1:p.Lys25Arg, XP_047280716.1:p.Lys25Arg, NP_001353698.1:p.Lys83Arg, XP_047280708.1:p.Lys25Arg, XP_047280715.1:p.Lys25Arg

Select item 140307830517.

rs1403078305 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:169804134 (GRCh38)
1:169773275 (GRCh37)
Canonical SPDI:: NC_000001.11:169804133:T:C
Gene:: C1orf112 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.169804134T>C, NC_000001.10:g.169773275T>C, NM_018186.3:c.372T>C, NM_001320047.2:c.372T>C, NM_001320047.1:c.372T>C, NM_001363739.2:c.-582T>C, NM_001363739.1:c.-582T>C, NM_001320048.2:c.-34T>C, NM_001320048.1:c.-34T>C, NM_018186.2:c.372T>C, XM_017001723.2:c.546T>C, XM_017001723.1:c.546T>C, XR_921872.2:n.609T>C, XR_921872.1:n.644T>C, NM_001320051.2:c.372T>C, NM_001320051.1:c.372T>C, NM_001320050.2:c.509T>C, NM_001320050.1:c.509T>C, NM_001366770.1:c.546T>C, XM_047424751.1:c.372T>C, NM_001366771.1:c.-721T>C, XM_047424743.1:c.372T>C, XM_047424762.1:c.372T>C, XM_047424770.1:c.285T>C, XM_047424760.1:c.372T>C, NR_159440.1:n.572T>C, NM_001366769.1:c.546T>C, XM_047424752.1:c.372T>C, XM_047424759.1:c.372T>C, NM_001366768.1:c.285T>C, NM_001366772.1:c.-459T>C, NM_001366773.1:c.-459T>C, NP_001306979.1:p.Phe170Ser

Select item 140203565518.

rs1402035655 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:169803254 (GRCh38)
1:169772395 (GRCh37)
Canonical SPDI:: NC_000001.11:169803253:A:C
Gene:: C1orf112 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.169803254A>C, NC_000001.10:g.169772395A>C, NM_018186.3:c.257A>C, NM_001320047.2:c.257A>C, NM_001320047.1:c.257A>C, NM_001363739.2:c.-697A>C, NM_001363739.1:c.-697A>C, NM_001320048.2:c.-112A>C, NM_001320048.1:c.-112A>C, NM_018186.2:c.257A>C, XM_017001723.2:c.431A>C, XM_017001723.1:c.431A>C, XR_921872.2:n.494A>C, XR_921872.1:n.529A>C, NM_001320051.2:c.257A>C, NM_001320051.1:c.257A>C, NM_001320050.2:c.431A>C, NM_001320050.1:c.431A>C, NM_001366770.1:c.431A>C, XM_047424751.1:c.257A>C, NM_001366771.1:c.-836A>C, XM_047424743.1:c.257A>C, XM_047424762.1:c.257A>C, XM_047424770.1:c.170A>C, XM_047424760.1:c.257A>C, NR_159440.1:n.494A>C, NM_001366769.1:c.431A>C, XM_047424752.1:c.257A>C, XM_047424759.1:c.257A>C, NM_001366768.1:c.170A>C, NM_001366772.1:c.-537A>C, NM_001366773.1:c.-574A>C, NP_001306976.1:p.Gln86Pro, XP_016857212.1:p.Gln144Pro, NP_001306980.1:p.Gln86Pro, NP_001306979.1:p.Gln144Pro, NP_001353699.1:p.Gln144Pro, XP_047280707.1:p.Gln86Pro, XP_047280699.1:p.Gln86Pro, XP_047280718.1:p.Gln86Pro, XP_047280726.1:p.Gln57Pro, XP_047280716.1:p.Gln86Pro, NP_001353698.1:p.Gln144Pro, XP_047280708.1:p.Gln86Pro, XP_047280715.1:p.Gln86Pro, NP_001353697.1:p.Gln57Pro

Select item 140083733119.

rs1400837331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:169803218 (GRCh38)
1:169772359 (GRCh37)
Canonical SPDI:: NC_000001.11:169803217:G:C
Gene:: C1orf112 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.169803218G>C, NC_000001.10:g.169772359G>C, NM_018186.3:c.221G>C, NM_001320047.2:c.221G>C, NM_001320047.1:c.221G>C, NM_001363739.2:c.-733G>C, NM_001363739.1:c.-733G>C, NM_001320048.2:c.-148G>C, NM_001320048.1:c.-148G>C, NM_018186.2:c.221G>C, XM_017001723.2:c.395G>C, XM_017001723.1:c.395G>C, XR_921872.2:n.458G>C, XR_921872.1:n.493G>C, NM_001320051.2:c.221G>C, NM_001320051.1:c.221G>C, NM_001320050.2:c.395G>C, NM_001320050.1:c.395G>C, NM_001366770.1:c.395G>C, XM_047424751.1:c.221G>C, NM_001366771.1:c.-872G>C, XM_047424743.1:c.221G>C, XM_047424762.1:c.221G>C, XM_047424770.1:c.134G>C, XM_047424760.1:c.221G>C, NR_159440.1:n.458G>C, NM_001366769.1:c.395G>C, XM_047424752.1:c.221G>C, XM_047424759.1:c.221G>C, NM_001366768.1:c.134G>C, NM_001366772.1:c.-573G>C, NM_001366773.1:c.-610G>C, NP_001306976.1:p.Cys74Ser, XP_016857212.1:p.Cys132Ser, NP_001306980.1:p.Cys74Ser, NP_001306979.1:p.Cys132Ser, NP_001353699.1:p.Cys132Ser, XP_047280707.1:p.Cys74Ser, XP_047280699.1:p.Cys74Ser, XP_047280718.1:p.Cys74Ser, XP_047280726.1:p.Cys45Ser, XP_047280716.1:p.Cys74Ser, NP_001353698.1:p.Cys132Ser, XP_047280708.1:p.Cys74Ser, XP_047280715.1:p.Cys74Ser, NP_001353697.1:p.Cys45Ser

Select item 139948676820.

rs1399486768 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:169795139 (GRCh38)
1:169764280 (GRCh37)
Canonical SPDI:: NC_000001.11:169795138:CCCC:CCC
Gene:: C1orf112 (Varview), METTL18 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.169795142del, NC_000001.10:g.169764283del, NM_001363739.2:c.-1088del, NM_001363739.1:c.-1088del, NM_001320048.2:c.-414del, NM_001320048.1:c.-414del, XM_017001723.2:c.40del, XM_017001723.1:c.40del, XR_921872.2:n.103del, XR_921872.1:n.138del, NM_001320050.2:c.40del, NM_001320050.1:c.40del, NM_001366770.1:c.40del, NM_001366771.1:c.-1227del, NR_159440.1:n.103del, NM_001366769.1:c.40del, NM_001366768.1:c.-133del, NM_001366772.1:c.-928del, NM_001366773.1:c.-876del, XP_016857212.1:p.Leu14fs, NP_001306979.1:p.Leu14fs, NP_001353699.1:p.Leu14fs, NP_001353698.1:p.Leu14fs

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