SNP Links for Protein (Select 664805973) - SNP

Links from Protein

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Select item 14909079121.

rs1490907912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:75314121 (GRCh38)
6:76023837 (GRCh37)
Canonical SPDI:: NC_000006.12:75314120:C:T
Gene:: FILIP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.75314121C>T, NC_000006.11:g.76023837C>T, NG_051931.1:g.184794G>A, NM_015687.5:c.1711G>A, NM_015687.4:c.1711G>A, NM_015687.3:c.1711G>A, NM_015687.2:c.1711G>A, NM_001300866.3:c.1711G>A, NM_001300866.2:c.1711G>A, NM_001300866.1:c.1711G>A, NM_001289987.3:c.1720G>A, NM_001289987.2:c.1720G>A, NM_001289987.1:c.1720G>A, XM_005248715.6:c.1711G>A, XM_005248715.5:c.1711G>A, XM_005248715.4:c.1711G>A, XM_005248715.3:c.1711G>A, XM_005248715.2:c.1711G>A, XM_005248715.1:c.1711G>A, XM_005248713.5:c.1711G>A, XM_005248713.4:c.1711G>A, XM_005248713.3:c.1711G>A, XM_005248713.2:c.1711G>A, XM_005248713.1:c.1711G>A, XM_011535756.3:c.967G>A, XM_011535756.2:c.967G>A, XM_011535756.1:c.967G>A, XM_047418648.1:c.967G>A, XM_047418647.1:c.1711G>A, NP_056502.1:p.Glu571Lys, NP_001287795.1:p.Glu571Lys, NP_001276916.1:p.Glu574Lys, XP_005248772.1:p.Glu571Lys, XP_005248770.1:p.Glu571Lys, XP_011534058.1:p.Glu323Lys, XP_047274604.1:p.Glu323Lys, XP_047274603.1:p.Glu571Lys

Select item 14907694572.

rs1490769457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:75313309 (GRCh38)
6:76023025 (GRCh37)
Canonical SPDI:: NC_000006.12:75313308:C:A,NC_000006.12:75313308:C:T
Gene:: FILIP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.75313309C>A, NC_000006.12:g.75313309C>T, NC_000006.11:g.76023025C>A, NC_000006.11:g.76023025C>T, NG_051931.1:g.185606G>T, NG_051931.1:g.185606G>A, NM_015687.5:c.2523G>T, NM_015687.5:c.2523G>A, NM_015687.4:c.2523G>T, NM_015687.4:c.2523G>A, NM_015687.3:c.2523G>T, NM_015687.3:c.2523G>A, NM_015687.2:c.2523G>T, NM_015687.2:c.2523G>A, NM_001300866.3:c.2523G>T, NM_001300866.3:c.2523G>A, NM_001300866.2:c.2523G>T, NM_001300866.2:c.2523G>A, NM_001300866.1:c.2523G>T, NM_001300866.1:c.2523G>A, NM_001289987.3:c.2532G>T, NM_001289987.3:c.2532G>A, NM_001289987.2:c.2532G>T, NM_001289987.2:c.2532G>A, NM_001289987.1:c.2532G>T, NM_001289987.1:c.2532G>A, XM_005248715.6:c.2523G>T, XM_005248715.6:c.2523G>A, XM_005248715.5:c.2523G>T, XM_005248715.5:c.2523G>A, XM_005248715.4:c.2523G>T, XM_005248715.4:c.2523G>A, XM_005248715.3:c.2523G>T, XM_005248715.3:c.2523G>A, XM_005248715.2:c.2523G>T, XM_005248715.2:c.2523G>A, XM_005248715.1:c.2523G>T, XM_005248715.1:c.2523G>A, XM_005248713.5:c.2523G>T, XM_005248713.5:c.2523G>A, XM_005248713.4:c.2523G>T, XM_005248713.4:c.2523G>A, XM_005248713.3:c.2523G>T, XM_005248713.3:c.2523G>A, XM_005248713.2:c.2523G>T, XM_005248713.2:c.2523G>A, XM_005248713.1:c.2523G>T, XM_005248713.1:c.2523G>A, XM_011535756.3:c.1779G>T, XM_011535756.3:c.1779G>A, XM_011535756.2:c.1779G>T, XM_011535756.2:c.1779G>A, XM_011535756.1:c.1779G>T, XM_011535756.1:c.1779G>A, XM_047418648.1:c.1779G>T, XM_047418648.1:c.1779G>A, XM_047418647.1:c.2523G>T, XM_047418647.1:c.2523G>A

Select item 14897797423.

rs1489779742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:75312486 (GRCh38)
6:76022202 (GRCh37)
Canonical SPDI:: NC_000006.12:75312485:G:C
Gene:: FILIP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75312486G>C, NC_000006.11:g.76022202G>C, NG_051931.1:g.186429C>G, NM_015687.5:c.3346C>G, NM_015687.4:c.3346C>G, NM_015687.3:c.3346C>G, NM_015687.2:c.3346C>G, NM_001300866.3:c.3346C>G, NM_001300866.2:c.3346C>G, NM_001300866.1:c.3346C>G, NM_001289987.3:c.3355C>G, NM_001289987.2:c.3355C>G, NM_001289987.1:c.3355C>G, XM_005248715.6:c.3346C>G, XM_005248715.5:c.3346C>G, XM_005248715.4:c.3346C>G, XM_005248715.3:c.3346C>G, XM_005248715.2:c.3346C>G, XM_005248715.1:c.3346C>G, XM_005248713.5:c.3346C>G, XM_005248713.4:c.3346C>G, XM_005248713.3:c.3346C>G, XM_005248713.2:c.3346C>G, XM_005248713.1:c.3346C>G, XM_011535756.3:c.2602C>G, XM_011535756.2:c.2602C>G, XM_011535756.1:c.2602C>G, XM_047418648.1:c.2602C>G, XM_047418647.1:c.3346C>G, NP_056502.1:p.Leu1116Val, NP_001287795.1:p.Leu1116Val, NP_001276916.1:p.Leu1119Val, XP_005248772.1:p.Leu1116Val, XP_005248770.1:p.Leu1116Val, XP_011534058.1:p.Leu868Val, XP_047274604.1:p.Leu868Val, XP_047274603.1:p.Leu1116Val

Select item 14883620444.

rs1488362044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:75312507 (GRCh38)
6:76022223 (GRCh37)
Canonical SPDI:: NC_000006.12:75312506:G:A
Gene:: FILIP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.75312507G>A, NC_000006.11:g.76022223G>A, NG_051931.1:g.186408C>T, NM_015687.5:c.3325C>T, NM_015687.4:c.3325C>T, NM_015687.3:c.3325C>T, NM_015687.2:c.3325C>T, NM_001300866.3:c.3325C>T, NM_001300866.2:c.3325C>T, NM_001300866.1:c.3325C>T, NM_001289987.3:c.3334C>T, NM_001289987.2:c.3334C>T, NM_001289987.1:c.3334C>T, XM_005248715.6:c.3325C>T, XM_005248715.5:c.3325C>T, XM_005248715.4:c.3325C>T, XM_005248715.3:c.3325C>T, XM_005248715.2:c.3325C>T, XM_005248715.1:c.3325C>T, XM_005248713.5:c.3325C>T, XM_005248713.4:c.3325C>T, XM_005248713.3:c.3325C>T, XM_005248713.2:c.3325C>T, XM_005248713.1:c.3325C>T, XM_011535756.3:c.2581C>T, XM_011535756.2:c.2581C>T, XM_011535756.1:c.2581C>T, XM_047418648.1:c.2581C>T, XM_047418647.1:c.3325C>T, NP_056502.1:p.Leu1109Phe, NP_001287795.1:p.Leu1109Phe, NP_001276916.1:p.Leu1112Phe, XP_005248772.1:p.Leu1109Phe, XP_005248770.1:p.Leu1109Phe, XP_011534058.1:p.Leu861Phe, XP_047274604.1:p.Leu861Phe, XP_047274603.1:p.Leu1109Phe

Select item 14875341025.

rs1487534102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:75314137 (GRCh38)
6:76023853 (GRCh37)
Canonical SPDI:: NC_000006.12:75314136:T:C
Gene:: FILIP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75314137T>C, NC_000006.11:g.76023853T>C, NG_051931.1:g.184778A>G, NM_015687.5:c.1695A>G, NM_015687.4:c.1695A>G, NM_015687.3:c.1695A>G, NM_015687.2:c.1695A>G, NM_001300866.3:c.1695A>G, NM_001300866.2:c.1695A>G, NM_001300866.1:c.1695A>G, NM_001289987.3:c.1704A>G, NM_001289987.2:c.1704A>G, NM_001289987.1:c.1704A>G, XM_005248715.6:c.1695A>G, XM_005248715.5:c.1695A>G, XM_005248715.4:c.1695A>G, XM_005248715.3:c.1695A>G, XM_005248715.2:c.1695A>G, XM_005248715.1:c.1695A>G, XM_005248713.5:c.1695A>G, XM_005248713.4:c.1695A>G, XM_005248713.3:c.1695A>G, XM_005248713.2:c.1695A>G, XM_005248713.1:c.1695A>G, XM_011535756.3:c.951A>G, XM_011535756.2:c.951A>G, XM_011535756.1:c.951A>G, XM_047418648.1:c.951A>G, XM_047418647.1:c.1695A>G

Select item 14869358516.

rs1486935851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:75313981 (GRCh38)
6:76023697 (GRCh37)
Canonical SPDI:: NC_000006.12:75313980:T:G
Gene:: FILIP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_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_000006.12:g.75313981T>G, NC_000006.11:g.76023697T>G, NG_051931.1:g.184934A>C, NM_015687.5:c.1851A>C, NM_015687.4:c.1851A>C, NM_015687.3:c.1851A>C, NM_015687.2:c.1851A>C, NM_001300866.3:c.1851A>C, NM_001300866.2:c.1851A>C, NM_001300866.1:c.1851A>C, NM_001289987.3:c.1860A>C, NM_001289987.2:c.1860A>C, NM_001289987.1:c.1860A>C, XM_005248715.6:c.1851A>C, XM_005248715.5:c.1851A>C, XM_005248715.4:c.1851A>C, XM_005248715.3:c.1851A>C, XM_005248715.2:c.1851A>C, XM_005248715.1:c.1851A>C, XM_005248713.5:c.1851A>C, XM_005248713.4:c.1851A>C, XM_005248713.3:c.1851A>C, XM_005248713.2:c.1851A>C, XM_005248713.1:c.1851A>C, XM_011535756.3:c.1107A>C, XM_011535756.2:c.1107A>C, XM_011535756.1:c.1107A>C, XM_047418648.1:c.1107A>C, XM_047418647.1:c.1851A>C, NP_056502.1:p.Lys617Asn, NP_001287795.1:p.Lys617Asn, NP_001276916.1:p.Lys620Asn, XP_005248772.1:p.Lys617Asn, XP_005248770.1:p.Lys617Asn, XP_011534058.1:p.Lys369Asn, XP_047274604.1:p.Lys369Asn, XP_047274603.1:p.Lys617Asn

Select item 14866482987.

rs1486648298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:75313038 (GRCh38)
6:76022754 (GRCh37)
Canonical SPDI:: NC_000006.12:75313037:A:G
Gene:: FILIP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75313038A>G, NC_000006.11:g.76022754A>G, NG_051931.1:g.185877T>C, NM_015687.5:c.2794T>C, NM_015687.4:c.2794T>C, NM_015687.3:c.2794T>C, NM_015687.2:c.2794T>C, NM_001300866.3:c.2794T>C, NM_001300866.2:c.2794T>C, NM_001300866.1:c.2794T>C, NM_001289987.3:c.2803T>C, NM_001289987.2:c.2803T>C, NM_001289987.1:c.2803T>C, XM_005248715.6:c.2794T>C, XM_005248715.5:c.2794T>C, XM_005248715.4:c.2794T>C, XM_005248715.3:c.2794T>C, XM_005248715.2:c.2794T>C, XM_005248715.1:c.2794T>C, XM_005248713.5:c.2794T>C, XM_005248713.4:c.2794T>C, XM_005248713.3:c.2794T>C, XM_005248713.2:c.2794T>C, XM_005248713.1:c.2794T>C, XM_011535756.3:c.2050T>C, XM_011535756.2:c.2050T>C, XM_011535756.1:c.2050T>C, XM_047418648.1:c.2050T>C, XM_047418647.1:c.2794T>C, NP_056502.1:p.Ser932Pro, NP_001287795.1:p.Ser932Pro, NP_001276916.1:p.Ser935Pro, XP_005248772.1:p.Ser932Pro, XP_005248770.1:p.Ser932Pro, XP_011534058.1:p.Ser684Pro, XP_047274604.1:p.Ser684Pro, XP_047274603.1:p.Ser932Pro

Select item 14844547868.

rs1484454786 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:75314865 (GRCh38)
6:76024581 (GRCh37)
Canonical SPDI:: NC_000006.12:75314864:T:C
Gene:: FILIP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.75314865T>C, NC_000006.11:g.76024581T>C, NG_051931.1:g.184050A>G, NM_015687.5:c.967A>G, NM_015687.4:c.967A>G, NM_015687.3:c.967A>G, NM_015687.2:c.967A>G, NM_001300866.3:c.967A>G, NM_001300866.2:c.967A>G, NM_001300866.1:c.967A>G, NM_001289987.3:c.976A>G, NM_001289987.2:c.976A>G, NM_001289987.1:c.976A>G, XM_005248715.6:c.967A>G, XM_005248715.5:c.967A>G, XM_005248715.4:c.967A>G, XM_005248715.3:c.967A>G, XM_005248715.2:c.967A>G, XM_005248715.1:c.967A>G, XM_005248713.5:c.967A>G, XM_005248713.4:c.967A>G, XM_005248713.3:c.967A>G, XM_005248713.2:c.967A>G, XM_005248713.1:c.967A>G, XM_011535756.3:c.223A>G, XM_011535756.2:c.223A>G, XM_011535756.1:c.223A>G, XM_047418648.1:c.223A>G, XM_047418647.1:c.967A>G, NP_056502.1:p.Asn323Asp, NP_001287795.1:p.Asn323Asp, NP_001276916.1:p.Asn326Asp, XP_005248772.1:p.Asn323Asp, XP_005248770.1:p.Asn323Asp, XP_011534058.1:p.Asn75Asp, XP_047274604.1:p.Asn75Asp, XP_047274603.1:p.Asn323Asp

Select item 14844530319.

rs1484453031 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 6:75313683 (GRCh38)
6:76023399 (GRCh37)
Canonical SPDI:: NC_000006.12:75313682:TTTT:TTT
Gene:: FILIP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.75313686del, NC_000006.11:g.76023402del, NG_051931.1:g.185232del, NM_015687.5:c.2149del, NM_015687.4:c.2149del, NM_015687.3:c.2149del, NM_015687.2:c.2149del, NM_001300866.3:c.2149del, NM_001300866.2:c.2149del, NM_001300866.1:c.2149del, NM_001289987.3:c.2158del, NM_001289987.2:c.2158del, NM_001289987.1:c.2158del, XM_005248715.6:c.2149del, XM_005248715.5:c.2149del, XM_005248715.4:c.2149del, XM_005248715.3:c.2149del, XM_005248715.2:c.2149del, XM_005248715.1:c.2149del, XM_005248713.5:c.2149del, XM_005248713.4:c.2149del, XM_005248713.3:c.2149del, XM_005248713.2:c.2149del, XM_005248713.1:c.2149del, XM_011535756.3:c.1405del, XM_011535756.2:c.1405del, XM_011535756.1:c.1405del, XM_047418648.1:c.1405del, XM_047418647.1:c.2149del, NP_056502.1:p.Ser717fs, NP_001287795.1:p.Ser717fs, NP_001276916.1:p.Ser720fs, XP_005248772.1:p.Ser717fs, XP_005248770.1:p.Ser717fs, XP_011534058.1:p.Ser469fs, XP_047274604.1:p.Ser469fs, XP_047274603.1:p.Ser717fs

Select item 148389901610.

rs1483899016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:75353541 (GRCh38)
6:76063257 (GRCh37)
Canonical SPDI:: NC_000006.12:75353540:C:T
Gene:: FILIP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.75353541C>T, NC_000006.11:g.76063257C>T, NG_051931.1:g.145374G>A, NM_015687.5:c.627G>A, NM_015687.4:c.627G>A, NM_015687.3:c.627G>A, NM_015687.2:c.627G>A, NM_001300866.3:c.627G>A, NM_001300866.2:c.627G>A, NM_001300866.1:c.627G>A, NM_001289987.3:c.636G>A, NM_001289987.2:c.636G>A, NM_001289987.1:c.636G>A, XM_005248715.6:c.627G>A, XM_005248715.5:c.627G>A, XM_005248715.4:c.627G>A, XM_005248715.3:c.627G>A, XM_005248715.2:c.627G>A, XM_005248715.1:c.627G>A, XM_005248713.5:c.627G>A, XM_005248713.4:c.627G>A, XM_005248713.3:c.627G>A, XM_005248713.2:c.627G>A, XM_005248713.1:c.627G>A, XM_047418647.1:c.627G>A

Select item 148279402211.

rs1482794022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:75314872 (GRCh38)
6:76024588 (GRCh37)
Canonical SPDI:: NC_000006.12:75314871:T:C
Gene:: FILIP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75314872T>C, NC_000006.11:g.76024588T>C, NG_051931.1:g.184043A>G, NM_015687.5:c.960A>G, NM_015687.4:c.960A>G, NM_015687.3:c.960A>G, NM_015687.2:c.960A>G, NM_001300866.3:c.960A>G, NM_001300866.2:c.960A>G, NM_001300866.1:c.960A>G, NM_001289987.3:c.969A>G, NM_001289987.2:c.969A>G, NM_001289987.1:c.969A>G, XM_005248715.6:c.960A>G, XM_005248715.5:c.960A>G, XM_005248715.4:c.960A>G, XM_005248715.3:c.960A>G, XM_005248715.2:c.960A>G, XM_005248715.1:c.960A>G, XM_005248713.5:c.960A>G, XM_005248713.4:c.960A>G, XM_005248713.3:c.960A>G, XM_005248713.2:c.960A>G, XM_005248713.1:c.960A>G, XM_011535756.3:c.216A>G, XM_011535756.2:c.216A>G, XM_011535756.1:c.216A>G, XM_047418648.1:c.216A>G, XM_047418647.1:c.960A>G

Select item 148226138712.

rs1482261387 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:75313633 (GRCh38)
6:76023349 (GRCh37)
Canonical SPDI:: NC_000006.12:75313632:T:C
Gene:: FILIP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75313633T>C, NC_000006.11:g.76023349T>C, NG_051931.1:g.185282A>G, NM_015687.5:c.2199A>G, NM_015687.4:c.2199A>G, NM_015687.3:c.2199A>G, NM_015687.2:c.2199A>G, NM_001300866.3:c.2199A>G, NM_001300866.2:c.2199A>G, NM_001300866.1:c.2199A>G, NM_001289987.3:c.2208A>G, NM_001289987.2:c.2208A>G, NM_001289987.1:c.2208A>G, XM_005248715.6:c.2199A>G, XM_005248715.5:c.2199A>G, XM_005248715.4:c.2199A>G, XM_005248715.3:c.2199A>G, XM_005248715.2:c.2199A>G, XM_005248715.1:c.2199A>G, XM_005248713.5:c.2199A>G, XM_005248713.4:c.2199A>G, XM_005248713.3:c.2199A>G, XM_005248713.2:c.2199A>G, XM_005248713.1:c.2199A>G, XM_011535756.3:c.1455A>G, XM_011535756.2:c.1455A>G, XM_011535756.1:c.1455A>G, XM_047418648.1:c.1455A>G, XM_047418647.1:c.2199A>G

Select item 147689331613.

rs1476893316 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:75313188 (GRCh38)
6:76022904 (GRCh37)
Canonical SPDI:: NC_000006.12:75313187:T:C
Gene:: FILIP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.75313188T>C, NC_000006.11:g.76022904T>C, NG_051931.1:g.185727A>G, NM_015687.5:c.2644A>G, NM_015687.4:c.2644A>G, NM_015687.3:c.2644A>G, NM_015687.2:c.2644A>G, NM_001300866.3:c.2644A>G, NM_001300866.2:c.2644A>G, NM_001300866.1:c.2644A>G, NM_001289987.3:c.2653A>G, NM_001289987.2:c.2653A>G, NM_001289987.1:c.2653A>G, XM_005248715.6:c.2644A>G, XM_005248715.5:c.2644A>G, XM_005248715.4:c.2644A>G, XM_005248715.3:c.2644A>G, XM_005248715.2:c.2644A>G, XM_005248715.1:c.2644A>G, XM_005248713.5:c.2644A>G, XM_005248713.4:c.2644A>G, XM_005248713.3:c.2644A>G, XM_005248713.2:c.2644A>G, XM_005248713.1:c.2644A>G, XM_011535756.3:c.1900A>G, XM_011535756.2:c.1900A>G, XM_011535756.1:c.1900A>G, XM_047418648.1:c.1900A>G, XM_047418647.1:c.2644A>G, NP_056502.1:p.Ile882Val, NP_001287795.1:p.Ile882Val, NP_001276916.1:p.Ile885Val, XP_005248772.1:p.Ile882Val, XP_005248770.1:p.Ile882Val, XP_011534058.1:p.Ile634Val, XP_047274604.1:p.Ile634Val, XP_047274603.1:p.Ile882Val

Select item 147671094014.

rs1476710940 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:75312888 (GRCh38)
6:76022604 (GRCh37)
Canonical SPDI:: NC_000006.12:75312887:T:C,NC_000006.12:75312887:T:G
Gene:: FILIP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.75312888T>C, NC_000006.12:g.75312888T>G, NC_000006.11:g.76022604T>C, NC_000006.11:g.76022604T>G, NG_051931.1:g.186027A>G, NG_051931.1:g.186027A>C, NM_015687.5:c.2944A>G, NM_015687.5:c.2944A>C, NM_015687.4:c.2944A>G, NM_015687.4:c.2944A>C, NM_015687.3:c.2944A>G, NM_015687.3:c.2944A>C, NM_015687.2:c.2944A>G, NM_015687.2:c.2944A>C, NM_001300866.3:c.2944A>G, NM_001300866.3:c.2944A>C, NM_001300866.2:c.2944A>G, NM_001300866.2:c.2944A>C, NM_001300866.1:c.2944A>G, NM_001300866.1:c.2944A>C, NM_001289987.3:c.2953A>G, NM_001289987.3:c.2953A>C, NM_001289987.2:c.2953A>G, NM_001289987.2:c.2953A>C, NM_001289987.1:c.2953A>G, NM_001289987.1:c.2953A>C, XM_005248715.6:c.2944A>G, XM_005248715.6:c.2944A>C, XM_005248715.5:c.2944A>G, XM_005248715.5:c.2944A>C, XM_005248715.4:c.2944A>G, XM_005248715.4:c.2944A>C, XM_005248715.3:c.2944A>G, XM_005248715.3:c.2944A>C, XM_005248715.2:c.2944A>G, XM_005248715.2:c.2944A>C, XM_005248715.1:c.2944A>G, XM_005248715.1:c.2944A>C, XM_005248713.5:c.2944A>G, XM_005248713.5:c.2944A>C, XM_005248713.4:c.2944A>G, XM_005248713.4:c.2944A>C, XM_005248713.3:c.2944A>G, XM_005248713.3:c.2944A>C, XM_005248713.2:c.2944A>G, XM_005248713.2:c.2944A>C, XM_005248713.1:c.2944A>G, XM_005248713.1:c.2944A>C, XM_011535756.3:c.2200A>G, XM_011535756.3:c.2200A>C, XM_011535756.2:c.2200A>G, XM_011535756.2:c.2200A>C, XM_011535756.1:c.2200A>G, XM_011535756.1:c.2200A>C, XM_047418648.1:c.2200A>G, XM_047418648.1:c.2200A>C, XM_047418647.1:c.2944A>G, XM_047418647.1:c.2944A>C, NP_056502.1:p.Thr982Ala, NP_056502.1:p.Thr982Pro, NP_001287795.1:p.Thr982Ala, NP_001287795.1:p.Thr982Pro, NP_001276916.1:p.Thr985Ala, NP_001276916.1:p.Thr985Pro, XP_005248772.1:p.Thr982Ala, XP_005248772.1:p.Thr982Pro, XP_005248770.1:p.Thr982Ala, XP_005248770.1:p.Thr982Pro, XP_011534058.1:p.Thr734Ala, XP_011534058.1:p.Thr734Pro, XP_047274604.1:p.Thr734Ala, XP_047274604.1:p.Thr734Pro, XP_047274603.1:p.Thr982Ala, XP_047274603.1:p.Thr982Pro

Select item 147661896815.

rs1476618968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:75414927 (GRCh38)
6:76124643 (GRCh37)
Canonical SPDI:: NC_000006.12:75414926:T:C
Gene:: FILIP1 (Varview), LOC101928540 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_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=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.75414927T>C, NC_000006.11:g.76124643T>C, NG_051931.1:g.83988A>G, NM_015687.5:c.46A>G, NM_015687.4:c.46A>G, NM_015687.3:c.46A>G, NM_015687.2:c.46A>G, NM_001300866.3:c.46A>G, NM_001300866.2:c.46A>G, NM_001300866.1:c.46A>G, NM_001289987.3:c.55A>G, NM_001289987.2:c.55A>G, NM_001289987.1:c.55A>G, XM_005248715.6:c.46A>G, XM_005248715.5:c.46A>G, XM_005248715.4:c.46A>G, XM_005248715.3:c.46A>G, XM_005248715.2:c.46A>G, XM_005248715.1:c.46A>G, XM_005248713.5:c.46A>G, XM_005248713.4:c.46A>G, XM_005248713.3:c.46A>G, XM_005248713.2:c.46A>G, XM_005248713.1:c.46A>G, XM_047418647.1:c.46A>G, NP_056502.1:p.Ile16Val, NP_001287795.1:p.Ile16Val, NP_001276916.1:p.Ile19Val, XP_005248772.1:p.Ile16Val, XP_005248770.1:p.Ile16Val, XP_047274603.1:p.Ile16Val

Select item 147612146916.

rs1476121469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:75314930 (GRCh38)
6:76024646 (GRCh37)
Canonical SPDI:: NC_000006.12:75314929:A:G,NC_000006.12:75314929:A:T
Gene:: FILIP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.75314930A>G, NC_000006.12:g.75314930A>T, NC_000006.11:g.76024646A>G, NC_000006.11:g.76024646A>T, NG_051931.1:g.183985T>C, NG_051931.1:g.183985T>A, NM_015687.5:c.902T>C, NM_015687.5:c.902T>A, NM_015687.4:c.902T>C, NM_015687.4:c.902T>A, NM_015687.3:c.902T>C, NM_015687.3:c.902T>A, NM_015687.2:c.902T>C, NM_015687.2:c.902T>A, NM_001300866.3:c.902T>C, NM_001300866.3:c.902T>A, NM_001300866.2:c.902T>C, NM_001300866.2:c.902T>A, NM_001300866.1:c.902T>C, NM_001300866.1:c.902T>A, NM_001289987.3:c.911T>C, NM_001289987.3:c.911T>A, NM_001289987.2:c.911T>C, NM_001289987.2:c.911T>A, NM_001289987.1:c.911T>C, NM_001289987.1:c.911T>A, XM_005248715.6:c.902T>C, XM_005248715.6:c.902T>A, XM_005248715.5:c.902T>C, XM_005248715.5:c.902T>A, XM_005248715.4:c.902T>C, XM_005248715.4:c.902T>A, XM_005248715.3:c.902T>C, XM_005248715.3:c.902T>A, XM_005248715.2:c.902T>C, XM_005248715.2:c.902T>A, XM_005248715.1:c.902T>C, XM_005248715.1:c.902T>A, XM_005248713.5:c.902T>C, XM_005248713.5:c.902T>A, XM_005248713.4:c.902T>C, XM_005248713.4:c.902T>A, XM_005248713.3:c.902T>C, XM_005248713.3:c.902T>A, XM_005248713.2:c.902T>C, XM_005248713.2:c.902T>A, XM_005248713.1:c.902T>C, XM_005248713.1:c.902T>A, XM_011535756.3:c.158T>C, XM_011535756.3:c.158T>A, XM_011535756.2:c.158T>C, XM_011535756.2:c.158T>A, XM_011535756.1:c.158T>C, XM_011535756.1:c.158T>A, XM_047418648.1:c.158T>C, XM_047418648.1:c.158T>A, XM_047418647.1:c.902T>C, XM_047418647.1:c.902T>A, NP_056502.1:p.Val301Ala, NP_056502.1:p.Val301Glu, NP_001287795.1:p.Val301Ala, NP_001287795.1:p.Val301Glu, NP_001276916.1:p.Val304Ala, NP_001276916.1:p.Val304Glu, XP_005248772.1:p.Val301Ala, XP_005248772.1:p.Val301Glu, XP_005248770.1:p.Val301Ala, XP_005248770.1:p.Val301Glu, XP_011534058.1:p.Val53Ala, XP_011534058.1:p.Val53Glu, XP_047274604.1:p.Val53Ala, XP_047274604.1:p.Val53Glu, XP_047274603.1:p.Val301Ala, XP_047274603.1:p.Val301Glu

Select item 147569656417.

rs1475696564 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:75314215 (GRCh38)
6:76023931 (GRCh37)
Canonical SPDI:: NC_000006.12:75314214:T:C
Gene:: FILIP1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.75314215T>C, NC_000006.11:g.76023931T>C, NG_051931.1:g.184700A>G, NM_015687.5:c.1617A>G, NM_015687.4:c.1617A>G, NM_015687.3:c.1617A>G, NM_015687.2:c.1617A>G, NM_001300866.3:c.1617A>G, NM_001300866.2:c.1617A>G, NM_001300866.1:c.1617A>G, NM_001289987.3:c.1626A>G, NM_001289987.2:c.1626A>G, NM_001289987.1:c.1626A>G, XM_005248715.6:c.1617A>G, XM_005248715.5:c.1617A>G, XM_005248715.4:c.1617A>G, XM_005248715.3:c.1617A>G, XM_005248715.2:c.1617A>G, XM_005248715.1:c.1617A>G, XM_005248713.5:c.1617A>G, XM_005248713.4:c.1617A>G, XM_005248713.3:c.1617A>G, XM_005248713.2:c.1617A>G, XM_005248713.1:c.1617A>G, XM_011535756.3:c.873A>G, XM_011535756.2:c.873A>G, XM_011535756.1:c.873A>G, XM_047418648.1:c.873A>G, XM_047418647.1:c.1617A>G

Select item 147546958618.

rs1475469586 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:75314712 (GRCh38)
6:76024428 (GRCh37)
Canonical SPDI:: NC_000006.12:75314711:A:G
Gene:: FILIP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.75314712A>G, NC_000006.11:g.76024428A>G, NG_051931.1:g.184203T>C, NM_015687.5:c.1120T>C, NM_015687.4:c.1120T>C, NM_015687.3:c.1120T>C, NM_015687.2:c.1120T>C, NM_001300866.3:c.1120T>C, NM_001300866.2:c.1120T>C, NM_001300866.1:c.1120T>C, NM_001289987.3:c.1129T>C, NM_001289987.2:c.1129T>C, NM_001289987.1:c.1129T>C, XM_005248715.6:c.1120T>C, XM_005248715.5:c.1120T>C, XM_005248715.4:c.1120T>C, XM_005248715.3:c.1120T>C, XM_005248715.2:c.1120T>C, XM_005248715.1:c.1120T>C, XM_005248713.5:c.1120T>C, XM_005248713.4:c.1120T>C, XM_005248713.3:c.1120T>C, XM_005248713.2:c.1120T>C, XM_005248713.1:c.1120T>C, XM_011535756.3:c.376T>C, XM_011535756.2:c.376T>C, XM_011535756.1:c.376T>C, XM_047418648.1:c.376T>C, XM_047418647.1:c.1120T>C, NP_056502.1:p.Ser374Pro, NP_001287795.1:p.Ser374Pro, NP_001276916.1:p.Ser377Pro, XP_005248772.1:p.Ser374Pro, XP_005248770.1:p.Ser374Pro, XP_011534058.1:p.Ser126Pro, XP_047274604.1:p.Ser126Pro, XP_047274603.1:p.Ser374Pro

Select item 147510842819.

rs1475108428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:75313406 (GRCh38)
6:76023122 (GRCh37)
Canonical SPDI:: NC_000006.12:75313405:G:C
Gene:: FILIP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.75313406G>C, NC_000006.11:g.76023122G>C, NG_051931.1:g.185509C>G, NM_015687.5:c.2426C>G, NM_015687.4:c.2426C>G, NM_015687.3:c.2426C>G, NM_015687.2:c.2426C>G, NM_001300866.3:c.2426C>G, NM_001300866.2:c.2426C>G, NM_001300866.1:c.2426C>G, NM_001289987.3:c.2435C>G, NM_001289987.2:c.2435C>G, NM_001289987.1:c.2435C>G, XM_005248715.6:c.2426C>G, XM_005248715.5:c.2426C>G, XM_005248715.4:c.2426C>G, XM_005248715.3:c.2426C>G, XM_005248715.2:c.2426C>G, XM_005248715.1:c.2426C>G, XM_005248713.5:c.2426C>G, XM_005248713.4:c.2426C>G, XM_005248713.3:c.2426C>G, XM_005248713.2:c.2426C>G, XM_005248713.1:c.2426C>G, XM_011535756.3:c.1682C>G, XM_011535756.2:c.1682C>G, XM_011535756.1:c.1682C>G, XM_047418648.1:c.1682C>G, XM_047418647.1:c.2426C>G, NP_056502.1:p.Ala809Gly, NP_001287795.1:p.Ala809Gly, NP_001276916.1:p.Ala812Gly, XP_005248772.1:p.Ala809Gly, XP_005248770.1:p.Ala809Gly, XP_011534058.1:p.Ala561Gly, XP_047274604.1:p.Ala561Gly, XP_047274603.1:p.Ala809Gly

Select item 147300596920.

rs1473005969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:75314882 (GRCh38)
6:76024598 (GRCh37)
Canonical SPDI:: NC_000006.12:75314881:A:C
Gene:: FILIP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.75314882A>C, NC_000006.11:g.76024598A>C, NG_051931.1:g.184033T>G, NM_015687.5:c.950T>G, NM_015687.4:c.950T>G, NM_015687.3:c.950T>G, NM_015687.2:c.950T>G, NM_001300866.3:c.950T>G, NM_001300866.2:c.950T>G, NM_001300866.1:c.950T>G, NM_001289987.3:c.959T>G, NM_001289987.2:c.959T>G, NM_001289987.1:c.959T>G, XM_005248715.6:c.950T>G, XM_005248715.5:c.950T>G, XM_005248715.4:c.950T>G, XM_005248715.3:c.950T>G, XM_005248715.2:c.950T>G, XM_005248715.1:c.950T>G, XM_005248713.5:c.950T>G, XM_005248713.4:c.950T>G, XM_005248713.3:c.950T>G, XM_005248713.2:c.950T>G, XM_005248713.1:c.950T>G, XM_011535756.3:c.206T>G, XM_011535756.2:c.206T>G, XM_011535756.1:c.206T>G, XM_047418648.1:c.206T>G, XM_047418647.1:c.950T>G, NP_056502.1:p.Met317Arg, NP_001287795.1:p.Met317Arg, NP_001276916.1:p.Met320Arg, XP_005248772.1:p.Met317Arg, XP_005248770.1:p.Met317Arg, XP_011534058.1:p.Met69Arg, XP_047274604.1:p.Met69Arg, XP_047274603.1:p.Met317Arg

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