SNP Links for Protein (Select 444741697) - SNP

Links from Protein

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Select item 14901357231.

rs1490135723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:67125892 (GRCh38)
1:67591575 (GRCh37)
Canonical SPDI:: NC_000001.11:67125891:A:C,NC_000001.11:67125891:A:T
Gene:: C1orf141 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000015/2 (GnomAD)
C=0.003275/6 (Korea1K)
HGVS:: NC_000001.11:g.67125892A>C, NC_000001.11:g.67125892A>T, NC_000001.10:g.67591575A>C, NC_000001.10:g.67591575A>T, XM_011541465.3:c.93T>G, XM_011541465.3:c.93T>A, XM_011541465.2:c.93T>G, XM_011541465.2:c.93T>A, XM_011541465.1:c.93T>G, XM_011541465.1:c.93T>A, XM_011541466.3:c.93T>G, XM_011541466.3:c.93T>A, XM_011541466.2:c.93T>G, XM_011541466.2:c.93T>A, XM_011541466.1:c.93T>G, XM_011541466.1:c.93T>A, XM_017001276.2:c.93T>G, XM_017001276.2:c.93T>A, XM_017001276.1:c.93T>G, XM_017001276.1:c.93T>A, NR_075077.2:n.237T>G, NR_075077.2:n.237T>A, NR_075077.1:n.238T>G, NR_075077.1:n.238T>A, XM_011541467.2:c.93T>G, XM_011541467.2:c.93T>A, XM_011541467.1:c.93T>G, XM_011541467.1:c.93T>A, NM_001276352.2:c.93T>G, NM_001276352.2:c.93T>A, NM_001276352.1:c.93T>G, NM_001276352.1:c.93T>A, NM_001276351.2:c.93T>G, NM_001276351.2:c.93T>A, NM_001276351.1:c.93T>G, NM_001276351.1:c.93T>A, XM_011541475.2:c.93T>G, XM_011541475.2:c.93T>A, XM_011541475.1:c.93T>G, XM_011541475.1:c.93T>A, NM_001013674.1:c.93T>G, NM_001013674.1:c.93T>A, XM_047420474.1:c.93T>G, XM_047420474.1:c.93T>A, XM_047420478.1:c.93T>G, XM_047420478.1:c.93T>A, XP_011539767.1:p.Ser31Arg, XP_011539767.1:p.Ser31Arg, XP_011539768.1:p.Ser31Arg, XP_011539768.1:p.Ser31Arg, XP_016856765.1:p.Ser31Arg, XP_016856765.1:p.Ser31Arg, XP_011539769.1:p.Ser31Arg, XP_011539769.1:p.Ser31Arg, NP_001263281.1:p.Ser31Arg, NP_001263281.1:p.Ser31Arg, NP_001263280.1:p.Ser31Arg, NP_001263280.1:p.Ser31Arg, XP_011539777.1:p.Ser31Arg, XP_011539777.1:p.Ser31Arg, XP_047276430.1:p.Ser31Arg, XP_047276430.1:p.Ser31Arg, XP_047276434.1:p.Ser31Arg, XP_047276434.1:p.Ser31Arg

Select item 14870908092.

rs1487090809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:67093438 (GRCh38)
1:67559121 (GRCh37)
Canonical SPDI:: NC_000001.11:67093437:A:C
Gene:: C1orf141 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.67093438A>C, NC_000001.10:g.67559121A>C, XM_011541465.3:c.983T>G, XM_011541465.2:c.983T>G, XM_011541465.1:c.983T>G, XM_011541466.3:c.983T>G, XM_011541466.2:c.983T>G, XM_011541466.1:c.983T>G, XM_017001276.2:c.983T>G, XM_017001276.1:c.983T>G, NR_075077.2:n.1083T>G, NR_075077.1:n.1084T>G, XM_011541467.2:c.944T>G, XM_011541467.1:c.944T>G, NM_001276352.2:c.*142T>G, NM_001276352.1:c.*142T>G, NM_001276351.2:c.770T>G, NM_001276351.1:c.770T>G, XM_011541469.2:c.569T>G, XM_011541469.1:c.569T>G, NM_001013674.1:c.770T>G, XP_011539767.1:p.Ile328Arg, XP_011539768.1:p.Ile328Arg, XP_016856765.1:p.Ile328Arg, XP_011539769.1:p.Ile315Arg, NP_001263280.1:p.Ile257Arg, XP_011539771.1:p.Ile190Arg

Select item 14855809843.

rs1485580984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:67093196 (GRCh38)
1:67558879 (GRCh37)
Canonical SPDI:: NC_000001.11:67093195:G:C,NC_000001.11:67093195:G:T
Gene:: C1orf141 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.67093196G>C, NC_000001.11:g.67093196G>T, NC_000001.10:g.67558879G>C, NC_000001.10:g.67558879G>T, XM_011541465.3:c.1225C>G, XM_011541465.3:c.1225C>A, XM_011541465.2:c.1225C>G, XM_011541465.2:c.1225C>A, XM_011541465.1:c.1225C>G, XM_011541465.1:c.1225C>A, XM_011541466.3:c.1225C>G, XM_011541466.3:c.1225C>A, XM_011541466.2:c.1225C>G, XM_011541466.2:c.1225C>A, XM_011541466.1:c.1225C>G, XM_011541466.1:c.1225C>A, XM_017001276.2:c.1225C>G, XM_017001276.2:c.1225C>A, XM_017001276.1:c.1225C>G, XM_017001276.1:c.1225C>A, NR_075077.2:n.1325C>G, NR_075077.2:n.1325C>A, NR_075077.1:n.1326C>G, NR_075077.1:n.1326C>A, XM_011541467.2:c.1186C>G, XM_011541467.2:c.1186C>A, XM_011541467.1:c.1186C>G, XM_011541467.1:c.1186C>A, NM_001276352.2:c.*384C>G, NM_001276352.2:c.*384C>A, NM_001276352.1:c.*384C>G, NM_001276352.1:c.*384C>A, NM_001276351.2:c.1012C>G, NM_001276351.2:c.1012C>A, NM_001276351.1:c.1012C>G, NM_001276351.1:c.1012C>A, XM_011541469.2:c.811C>G, XM_011541469.2:c.811C>A, XM_011541469.1:c.811C>G, XM_011541469.1:c.811C>A, NM_001013674.1:c.1012C>G, NM_001013674.1:c.1012C>A, XP_011539767.1:p.His409Asp, XP_011539767.1:p.His409Asn, XP_011539768.1:p.His409Asp, XP_011539768.1:p.His409Asn, XP_016856765.1:p.His409Asp, XP_016856765.1:p.His409Asn, XP_011539769.1:p.His396Asp, XP_011539769.1:p.His396Asn, NP_001263280.1:p.His338Asp, NP_001263280.1:p.His338Asn, XP_011539771.1:p.His271Asp, XP_011539771.1:p.His271Asn

Select item 14847120724.

rs1484712072 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:67093225 (GRCh38)
1:67558908 (GRCh37)
Canonical SPDI:: NC_000001.11:67093224:A:G
Gene:: C1orf141 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.67093225A>G, NC_000001.10:g.67558908A>G, XM_011541465.3:c.1196T>C, XM_011541465.2:c.1196T>C, XM_011541465.1:c.1196T>C, XM_011541466.3:c.1196T>C, XM_011541466.2:c.1196T>C, XM_011541466.1:c.1196T>C, XM_017001276.2:c.1196T>C, XM_017001276.1:c.1196T>C, NR_075077.2:n.1296T>C, NR_075077.1:n.1297T>C, XM_011541467.2:c.1157T>C, XM_011541467.1:c.1157T>C, NM_001276352.2:c.*355T>C, NM_001276352.1:c.*355T>C, NM_001276351.2:c.983T>C, NM_001276351.1:c.983T>C, XM_011541469.2:c.782T>C, XM_011541469.1:c.782T>C, NM_001013674.1:c.983T>C, XP_011539767.1:p.Phe399Ser, XP_011539768.1:p.Phe399Ser, XP_016856765.1:p.Phe399Ser, XP_011539769.1:p.Phe386Ser, NP_001263280.1:p.Phe328Ser, XP_011539771.1:p.Phe261Ser

Select item 14779854225.

rs1477985422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:67093277 (GRCh38)
1:67558960 (GRCh37)
Canonical SPDI:: NC_000001.11:67093276:A:C
Gene:: C1orf141 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.67093277A>C, NC_000001.10:g.67558960A>C, XM_011541465.3:c.1144T>G, XM_011541465.2:c.1144T>G, XM_011541465.1:c.1144T>G, XM_011541466.3:c.1144T>G, XM_011541466.2:c.1144T>G, XM_011541466.1:c.1144T>G, XM_017001276.2:c.1144T>G, XM_017001276.1:c.1144T>G, NR_075077.2:n.1244T>G, NR_075077.1:n.1245T>G, XM_011541467.2:c.1105T>G, XM_011541467.1:c.1105T>G, NM_001276352.2:c.*303T>G, NM_001276352.1:c.*303T>G, NM_001276351.2:c.931T>G, NM_001276351.1:c.931T>G, XM_011541469.2:c.730T>G, XM_011541469.1:c.730T>G, NM_001013674.1:c.931T>G, XP_011539767.1:p.Trp382Gly, XP_011539768.1:p.Trp382Gly, XP_016856765.1:p.Trp382Gly, XP_011539769.1:p.Trp369Gly, NP_001263280.1:p.Trp311Gly, XP_011539771.1:p.Trp244Gly

Select item 14761487576.

rs1476148757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:67093448 (GRCh38)
1:67559131 (GRCh37)
Canonical SPDI:: NC_000001.11:67093447:G:A
Gene:: C1orf141 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/7 (GnomAD)
A=0.00008/20 (GnomAD_exomes)
HGVS:: NC_000001.11:g.67093448G>A, NC_000001.10:g.67559131G>A, XM_011541465.3:c.973C>T, XM_011541465.2:c.973C>T, XM_011541465.1:c.973C>T, XM_011541466.3:c.973C>T, XM_011541466.2:c.973C>T, XM_011541466.1:c.973C>T, XM_017001276.2:c.973C>T, XM_017001276.1:c.973C>T, NR_075077.2:n.1073C>T, NR_075077.1:n.1074C>T, XM_011541467.2:c.934C>T, XM_011541467.1:c.934C>T, NM_001276352.2:c.*132C>T, NM_001276352.1:c.*132C>T, NM_001276351.2:c.760C>T, NM_001276351.1:c.760C>T, XM_011541469.2:c.559C>T, XM_011541469.1:c.559C>T, NM_001013674.1:c.760C>T, XP_011539767.1:p.Leu325Phe, XP_011539768.1:p.Leu325Phe, XP_016856765.1:p.Leu325Phe, XP_011539769.1:p.Leu312Phe, NP_001263280.1:p.Leu254Phe, XP_011539771.1:p.Leu187Phe

Select item 14751671647.

rs1475167164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:67093132 (GRCh38)
1:67558815 (GRCh37)
Canonical SPDI:: NC_000001.11:67093131:A:G
Gene:: C1orf141 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.67093132A>G, NC_000001.10:g.67558815A>G, XM_011541465.3:c.1289T>C, XM_011541465.2:c.1289T>C, XM_011541465.1:c.1289T>C, XM_011541466.3:c.1289T>C, XM_011541466.2:c.1289T>C, XM_011541466.1:c.1289T>C, XM_017001276.2:c.1289T>C, XM_017001276.1:c.1289T>C, NR_075077.2:n.1389T>C, NR_075077.1:n.1390T>C, XM_011541467.2:c.1250T>C, XM_011541467.1:c.1250T>C, NM_001276352.2:c.*448T>C, NM_001276352.1:c.*448T>C, NM_001276351.2:c.1076T>C, NM_001276351.1:c.1076T>C, XM_011541469.2:c.875T>C, XM_011541469.1:c.875T>C, NM_001013674.1:c.1076T>C, XP_011539767.1:p.Ile430Thr, XP_011539768.1:p.Ile430Thr, XP_016856765.1:p.Ile430Thr, XP_011539769.1:p.Ile417Thr, NP_001263280.1:p.Ile359Thr, XP_011539771.1:p.Ile292Thr

Select item 14743652998.

rs1474365299 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:67125903 (GRCh38)
1:67591586 (GRCh37)
Canonical SPDI:: NC_000001.11:67125902:T:C,NC_000001.11:67125902:T:G
Gene:: C1orf141 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.67125903T>C, NC_000001.11:g.67125903T>G, NC_000001.10:g.67591586T>C, NC_000001.10:g.67591586T>G, XM_011541465.3:c.82A>G, XM_011541465.3:c.82A>C, XM_011541465.2:c.82A>G, XM_011541465.2:c.82A>C, XM_011541465.1:c.82A>G, XM_011541465.1:c.82A>C, XM_011541466.3:c.82A>G, XM_011541466.3:c.82A>C, XM_011541466.2:c.82A>G, XM_011541466.2:c.82A>C, XM_011541466.1:c.82A>G, XM_011541466.1:c.82A>C, XM_017001276.2:c.82A>G, XM_017001276.2:c.82A>C, XM_017001276.1:c.82A>G, XM_017001276.1:c.82A>C, NR_075077.2:n.226A>G, NR_075077.2:n.226A>C, NR_075077.1:n.227A>G, NR_075077.1:n.227A>C, XM_011541467.2:c.82A>G, XM_011541467.2:c.82A>C, XM_011541467.1:c.82A>G, XM_011541467.1:c.82A>C, NM_001276352.2:c.82A>G, NM_001276352.2:c.82A>C, NM_001276352.1:c.82A>G, NM_001276352.1:c.82A>C, NM_001276351.2:c.82A>G, NM_001276351.2:c.82A>C, NM_001276351.1:c.82A>G, NM_001276351.1:c.82A>C, XM_011541475.2:c.82A>G, XM_011541475.2:c.82A>C, XM_011541475.1:c.82A>G, XM_011541475.1:c.82A>C, NM_001013674.1:c.82A>G, NM_001013674.1:c.82A>C, XM_047420474.1:c.82A>G, XM_047420474.1:c.82A>C, XM_047420478.1:c.82A>G, XM_047420478.1:c.82A>C, XP_011539767.1:p.Arg28Gly, XP_011539768.1:p.Arg28Gly, XP_016856765.1:p.Arg28Gly, XP_011539769.1:p.Arg28Gly, NP_001263281.1:p.Arg28Gly, NP_001263280.1:p.Arg28Gly, XP_011539777.1:p.Arg28Gly, XP_047276430.1:p.Arg28Gly, XP_047276434.1:p.Arg28Gly

Select item 14715180899.

rs1471518089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:67115363 (GRCh38)
1:67581046 (GRCh37)
Canonical SPDI:: NC_000001.11:67115362:C:T
Gene:: C1orf141 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.67115363C>T, NC_000001.10:g.67581046C>T, XM_011541465.3:c.335G>A, XM_011541465.2:c.335G>A, XM_011541465.1:c.335G>A, XM_011541466.3:c.335G>A, XM_011541466.2:c.335G>A, XM_011541466.1:c.335G>A, XM_017001276.2:c.335G>A, XM_017001276.1:c.335G>A, NR_075077.2:n.479G>A, NR_075077.1:n.480G>A, XM_011541467.2:c.335G>A, XM_011541467.1:c.335G>A, NM_001276352.2:c.335G>A, NM_001276352.1:c.335G>A, NM_001276351.2:c.335G>A, NM_001276351.1:c.335G>A, XM_011541475.2:c.335G>A, XM_011541475.1:c.335G>A, NM_001013674.1:c.335G>A, XM_047420474.1:c.335G>A, XM_047420478.1:c.335G>A, XP_011539767.1:p.Ser112Asn, XP_011539768.1:p.Ser112Asn, XP_016856765.1:p.Ser112Asn, XP_011539769.1:p.Ser112Asn, NP_001263281.1:p.Ser112Asn, NP_001263280.1:p.Ser112Asn, XP_011539777.1:p.Ser112Asn, XP_047276430.1:p.Ser112Asn, XP_047276434.1:p.Ser112Asn

Select item 147112058610.

rs1471120586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:67093423 (GRCh38)
1:67559106 (GRCh37)
Canonical SPDI:: NC_000001.11:67093422:G:A,NC_000001.11:67093422:G:C,NC_000001.11:67093422:G:T
Gene:: C1orf141 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.67093423G>A, NC_000001.11:g.67093423G>C, NC_000001.11:g.67093423G>T, NC_000001.10:g.67559106G>A, NC_000001.10:g.67559106G>C, NC_000001.10:g.67559106G>T, XM_011541465.3:c.998C>T, XM_011541465.3:c.998C>G, XM_011541465.3:c.998C>A, XM_011541465.2:c.998C>T, XM_011541465.2:c.998C>G, XM_011541465.2:c.998C>A, XM_011541465.1:c.998C>T, XM_011541465.1:c.998C>G, XM_011541465.1:c.998C>A, XM_011541466.3:c.998C>T, XM_011541466.3:c.998C>G, XM_011541466.3:c.998C>A, XM_011541466.2:c.998C>T, XM_011541466.2:c.998C>G, XM_011541466.2:c.998C>A, XM_011541466.1:c.998C>T, XM_011541466.1:c.998C>G, XM_011541466.1:c.998C>A, XM_017001276.2:c.998C>T, XM_017001276.2:c.998C>G, XM_017001276.2:c.998C>A, XM_017001276.1:c.998C>T, XM_017001276.1:c.998C>G, XM_017001276.1:c.998C>A, NR_075077.2:n.1098C>T, NR_075077.2:n.1098C>G, NR_075077.2:n.1098C>A, NR_075077.1:n.1099C>T, NR_075077.1:n.1099C>G, NR_075077.1:n.1099C>A, XM_011541467.2:c.959C>T, XM_011541467.2:c.959C>G, XM_011541467.2:c.959C>A, XM_011541467.1:c.959C>T, XM_011541467.1:c.959C>G, XM_011541467.1:c.959C>A, NM_001276352.2:c.*157C>T, NM_001276352.2:c.*157C>G, NM_001276352.2:c.*157C>A, NM_001276352.1:c.*157C>T, NM_001276352.1:c.*157C>G, NM_001276352.1:c.*157C>A, NM_001276351.2:c.785C>T, NM_001276351.2:c.785C>G, NM_001276351.2:c.785C>A, NM_001276351.1:c.785C>T, NM_001276351.1:c.785C>G, NM_001276351.1:c.785C>A, XM_011541469.2:c.584C>T, XM_011541469.2:c.584C>G, XM_011541469.2:c.584C>A, XM_011541469.1:c.584C>T, XM_011541469.1:c.584C>G, XM_011541469.1:c.584C>A, NM_001013674.1:c.785C>T, NM_001013674.1:c.785C>G, NM_001013674.1:c.785C>A, XP_011539767.1:p.Ser333Phe, XP_011539767.1:p.Ser333Cys, XP_011539767.1:p.Ser333Tyr, XP_011539768.1:p.Ser333Phe, XP_011539768.1:p.Ser333Cys, XP_011539768.1:p.Ser333Tyr, XP_016856765.1:p.Ser333Phe, XP_016856765.1:p.Ser333Cys, XP_016856765.1:p.Ser333Tyr, XP_011539769.1:p.Ser320Phe, XP_011539769.1:p.Ser320Cys, XP_011539769.1:p.Ser320Tyr, NP_001263280.1:p.Ser262Phe, NP_001263280.1:p.Ser262Cys, NP_001263280.1:p.Ser262Tyr, XP_011539771.1:p.Ser195Phe, XP_011539771.1:p.Ser195Cys, XP_011539771.1:p.Ser195Tyr

Select item 147044548511.

rs1470445485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:67093560 (GRCh38)
1:67559243 (GRCh37)
Canonical SPDI:: NC_000001.11:67093559:A:G
Gene:: C1orf141 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.67093560A>G, NC_000001.10:g.67559243A>G, XM_011541465.3:c.861T>C, XM_011541465.2:c.861T>C, XM_011541465.1:c.861T>C, XM_011541466.3:c.861T>C, XM_011541466.2:c.861T>C, XM_011541466.1:c.861T>C, XM_017001276.2:c.861T>C, XM_017001276.1:c.861T>C, NR_075077.2:n.961T>C, NR_075077.1:n.962T>C, XM_011541467.2:c.822T>C, XM_011541467.1:c.822T>C, NM_001276352.2:c.*20T>C, NM_001276352.1:c.*20T>C, NM_001276351.2:c.648T>C, NM_001276351.1:c.648T>C, XM_011541469.2:c.447T>C, XM_011541469.1:c.447T>C, NM_001013674.1:c.648T>C

Select item 147020541412.

rs1470205414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:67093356 (GRCh38)
1:67559039 (GRCh37)
Canonical SPDI:: NC_000001.11:67093355:C:T
Gene:: C1orf141 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.67093356C>T, NC_000001.10:g.67559039C>T, XM_011541465.3:c.1065G>A, XM_011541465.2:c.1065G>A, XM_011541465.1:c.1065G>A, XM_011541466.3:c.1065G>A, XM_011541466.2:c.1065G>A, XM_011541466.1:c.1065G>A, XM_017001276.2:c.1065G>A, XM_017001276.1:c.1065G>A, NR_075077.2:n.1165G>A, NR_075077.1:n.1166G>A, XM_011541467.2:c.1026G>A, XM_011541467.1:c.1026G>A, NM_001276352.2:c.*224G>A, NM_001276352.1:c.*224G>A, NM_001276351.2:c.852G>A, NM_001276351.1:c.852G>A, XM_011541469.2:c.651G>A, XM_011541469.1:c.651G>A, NM_001013674.1:c.852G>A, XP_011539767.1:p.Met355Ile, XP_011539768.1:p.Met355Ile, XP_016856765.1:p.Met355Ile, XP_011539769.1:p.Met342Ile, NP_001263280.1:p.Met284Ile, XP_011539771.1:p.Met217Ile

Select item 146916634013.

rs1469166340 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:67125754 (GRCh38)
1:67591437 (GRCh37)
Canonical SPDI:: NC_000001.11:67125753:T:C
Gene:: C1orf141 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.67125754T>C, NC_000001.10:g.67591437T>C, XM_011541465.3:c.231A>G, XM_011541465.2:c.231A>G, XM_011541465.1:c.231A>G, XM_011541466.3:c.231A>G, XM_011541466.2:c.231A>G, XM_011541466.1:c.231A>G, XM_017001276.2:c.231A>G, XM_017001276.1:c.231A>G, NR_075077.2:n.375A>G, NR_075077.1:n.376A>G, XM_011541467.2:c.231A>G, XM_011541467.1:c.231A>G, NM_001276352.2:c.231A>G, NM_001276352.1:c.231A>G, NM_001276351.2:c.231A>G, NM_001276351.1:c.231A>G, XM_011541475.2:c.231A>G, XM_011541475.1:c.231A>G, NM_001013674.1:c.231A>G, XM_047420474.1:c.231A>G, XM_047420478.1:c.231A>G

Select item 146865173414.

rs1468651734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:67096280 (GRCh38)
1:67561963 (GRCh37)
Canonical SPDI:: NC_000001.11:67096279:C:A,NC_000001.11:67096279:C:T
Gene:: C1orf141 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.67096280C>A, NC_000001.11:g.67096280C>T, NC_000001.10:g.67561963C>A, NC_000001.10:g.67561963C>T, XM_011541465.3:c.601G>T, XM_011541465.3:c.601G>A, XM_011541465.2:c.601G>T, XM_011541465.2:c.601G>A, XM_011541465.1:c.601G>T, XM_011541465.1:c.601G>A, XM_011541466.3:c.601G>T, XM_011541466.3:c.601G>A, XM_011541466.2:c.601G>T, XM_011541466.2:c.601G>A, XM_011541466.1:c.601G>T, XM_011541466.1:c.601G>A, XM_017001276.2:c.601G>T, XM_017001276.2:c.601G>A, XM_017001276.1:c.601G>T, XM_017001276.1:c.601G>A, NR_075077.2:n.888G>T, NR_075077.2:n.888G>A, NR_075077.1:n.889G>T, NR_075077.1:n.889G>A, XM_011541467.2:c.562G>T, XM_011541467.2:c.562G>A, XM_011541467.1:c.562G>T, XM_011541467.1:c.562G>A, NM_001276352.2:c.601G>T, NM_001276352.2:c.601G>A, NM_001276352.1:c.601G>T, NM_001276352.1:c.601G>A, NM_001276351.2:c.388G>T, NM_001276351.2:c.388G>A, NM_001276351.1:c.388G>T, NM_001276351.1:c.388G>A, XM_011541469.2:c.187G>T, XM_011541469.2:c.187G>A, XM_011541469.1:c.187G>T, XM_011541469.1:c.187G>A, NM_001013674.1:c.388G>T, NM_001013674.1:c.388G>A, XM_047420474.1:c.456G>T, XM_047420474.1:c.456G>A, XP_011539767.1:p.Gly201Cys, XP_011539767.1:p.Gly201Ser, XP_011539768.1:p.Gly201Cys, XP_011539768.1:p.Gly201Ser, XP_016856765.1:p.Gly201Cys, XP_016856765.1:p.Gly201Ser, XP_011539769.1:p.Gly188Cys, XP_011539769.1:p.Gly188Ser, NP_001263281.1:p.Gly201Cys, NP_001263281.1:p.Gly201Ser, NP_001263280.1:p.Gly130Cys, NP_001263280.1:p.Gly130Ser, XP_011539771.1:p.Gly63Cys, XP_011539771.1:p.Gly63Ser, XP_047276430.1:p.Leu152Phe

Select item 146539751115.

rs1465397511 [Homo sapiens]

Variant type:: INS
Alleles:: ->AACTTATCAAAT [Show Flanks]
Chromosome:: 1:67093237 (GRCh38)
1:67558921 (GRCh37)
Canonical SPDI:: NC_000001.11:67093237::AACTTATCAAAT
Gene:: C1orf141 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,inframe_insertion
HGVS:: NC_000001.11:g.67093237_67093238insAACTTATCAAAT, NC_000001.10:g.67558920_67558921insAACTTATCAAAT, XM_011541465.3:c.1183_1184insATTTGATAAGTT, XM_011541465.2:c.1183_1184insATTTGATAAGTT, XM_011541465.1:c.1183_1184insATTTGATAAGTT, XM_011541466.3:c.1183_1184insATTTGATAAGTT, XM_011541466.2:c.1183_1184insATTTGATAAGTT, XM_011541466.1:c.1183_1184insATTTGATAAGTT, XM_017001276.2:c.1183_1184insATTTGATAAGTT, XM_017001276.1:c.1183_1184insATTTGATAAGTT, NR_075077.2:n.1283_1284insATTTGATAAGTT, NR_075077.1:n.1284_1285insATTTGATAAGTT, XM_011541467.2:c.1144_1145insATTTGATAAGTT, XM_011541467.1:c.1144_1145insATTTGATAAGTT, NM_001276352.2:c.*342_*343insATTTGATAAGTT, NM_001276352.1:c.*342_*343insATTTGATAAGTT, NM_001276351.2:c.970_971insATTTGATAAGTT, NM_001276351.1:c.970_971insATTTGATAAGTT, XM_011541469.2:c.769_770insATTTGATAAGTT, XM_011541469.1:c.769_770insATTTGATAAGTT, NM_001013674.1:c.970_971insATTTGATAAGTT, XP_011539767.1:p.Leu395_Thr396insHisLeuIleSer, XP_011539768.1:p.Leu395_Thr396insHisLeuIleSer, XP_016856765.1:p.Leu395_Thr396insHisLeuIleSer, XP_011539769.1:p.Leu382_Thr383insHisLeuIleSer, NP_001263280.1:p.Leu324_Thr325insHisLeuIleSer, XP_011539771.1:p.Leu257_Thr258insHisLeuIleSer

Select item 146290406616.

rs1462904066 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:67093386 (GRCh38)
1:67559069 (GRCh37)
Canonical SPDI:: NC_000001.11:67093385:T:C
Gene:: C1orf141 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.67093386T>C, NC_000001.10:g.67559069T>C, XM_011541465.3:c.1035A>G, XM_011541465.2:c.1035A>G, XM_011541465.1:c.1035A>G, XM_011541466.3:c.1035A>G, XM_011541466.2:c.1035A>G, XM_011541466.1:c.1035A>G, XM_017001276.2:c.1035A>G, XM_017001276.1:c.1035A>G, NR_075077.2:n.1135A>G, NR_075077.1:n.1136A>G, XM_011541467.2:c.996A>G, XM_011541467.1:c.996A>G, NM_001276352.2:c.*194A>G, NM_001276352.1:c.*194A>G, NM_001276351.2:c.822A>G, NM_001276351.1:c.822A>G, XM_011541469.2:c.621A>G, XM_011541469.1:c.621A>G, NM_001013674.1:c.822A>G

Select item 146133263917.

rs1461332639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:67093050 (GRCh38)
1:67558733 (GRCh37)
Canonical SPDI:: NC_000001.11:67093049:C:T
Gene:: C1orf141 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.67093050C>T, NC_000001.10:g.67558733C>T, XM_011541465.3:c.1371G>A, XM_011541465.2:c.1371G>A, XM_011541465.1:c.1371G>A, XM_011541466.3:c.1371G>A, XM_011541466.2:c.1371G>A, XM_011541466.1:c.1371G>A, XM_017001276.2:c.1371G>A, XM_017001276.1:c.1371G>A, NR_075077.2:n.1471G>A, NR_075077.1:n.1472G>A, XM_011541467.2:c.1332G>A, XM_011541467.1:c.1332G>A, NM_001276352.2:c.*530G>A, NM_001276352.1:c.*530G>A, NM_001276351.2:c.1158G>A, NM_001276351.1:c.1158G>A, XM_011541469.2:c.957G>A, XM_011541469.1:c.957G>A, NM_001013674.1:c.1158G>A

Select item 145768200818.

rs1457682008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:67095377 (GRCh38)
1:67561060 (GRCh37)
Canonical SPDI:: NC_000001.11:67095376:T:G
Gene:: C1orf141 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.67095377T>G, NC_000001.10:g.67561060T>G, XM_011541465.3:c.674A>C, XM_011541465.2:c.674A>C, XM_011541465.1:c.674A>C, XM_011541466.3:c.674A>C, XM_011541466.2:c.674A>C, XM_011541466.1:c.674A>C, XM_017001276.2:c.674A>C, XM_017001276.1:c.674A>C, XM_011541467.2:c.635A>C, XM_011541467.1:c.635A>C, NM_001276351.2:c.461A>C, NM_001276351.1:c.461A>C, XM_011541469.2:c.260A>C, XM_011541469.1:c.260A>C, NM_001013674.1:c.461A>C, XP_011539767.1:p.Lys225Thr, XP_011539768.1:p.Lys225Thr, XP_016856765.1:p.Lys225Thr, XP_011539769.1:p.Lys212Thr, NP_001263280.1:p.Lys154Thr, XP_011539771.1:p.Lys87Thr

Select item 145678757719.

rs1456787577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:67096268 (GRCh38)
1:67561951 (GRCh37)
Canonical SPDI:: NC_000001.11:67096267:C:T
Gene:: C1orf141 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000001.11:g.67096268C>T, NC_000001.10:g.67561951C>T, XM_011541465.3:c.613G>A, XM_011541465.2:c.613G>A, XM_011541465.1:c.613G>A, XM_011541466.3:c.613G>A, XM_011541466.2:c.613G>A, XM_011541466.1:c.613G>A, XM_017001276.2:c.613G>A, XM_017001276.1:c.613G>A, NR_075077.2:n.900G>A, NR_075077.1:n.901G>A, XM_011541467.2:c.574G>A, XM_011541467.1:c.574G>A, NM_001276352.2:c.613G>A, NM_001276352.1:c.613G>A, NM_001276351.2:c.400G>A, NM_001276351.1:c.400G>A, XM_011541469.2:c.199G>A, XM_011541469.1:c.199G>A, NM_001013674.1:c.400G>A, XM_047420474.1:c.*3G>A, XP_011539767.1:p.Gly205Ser, XP_011539768.1:p.Gly205Ser, XP_016856765.1:p.Gly205Ser, XP_011539769.1:p.Gly192Ser, NP_001263281.1:p.Gly205Ser, NP_001263280.1:p.Gly134Ser, XP_011539771.1:p.Gly67Ser

Select item 145596551320.

rs1455965513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:67095341 (GRCh38)
1:67561024 (GRCh37)
Canonical SPDI:: NC_000001.11:67095340:G:A
Gene:: C1orf141 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.67095341G>A, NC_000001.10:g.67561024G>A, XM_011541465.3:c.710C>T, XM_011541465.2:c.710C>T, XM_011541465.1:c.710C>T, XM_011541466.3:c.710C>T, XM_011541466.2:c.710C>T, XM_011541466.1:c.710C>T, XM_017001276.2:c.710C>T, XM_017001276.1:c.710C>T, XM_011541467.2:c.671C>T, XM_011541467.1:c.671C>T, NM_001276351.2:c.497C>T, NM_001276351.1:c.497C>T, XM_011541469.2:c.296C>T, XM_011541469.1:c.296C>T, NM_001013674.1:c.497C>T, XP_011539767.1:p.Ser237Leu, XP_011539768.1:p.Ser237Leu, XP_016856765.1:p.Ser237Leu, XP_011539769.1:p.Ser224Leu, NP_001263280.1:p.Ser166Leu, XP_011539771.1:p.Ser99Leu

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