SNP Links for Protein (Select 767934164) - SNP

Links from Protein

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Select item 14902436451.

rs1490243645 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:10402573 (GRCh38)
5:10402685 (GRCh37)
Canonical SPDI:: NC_000005.10:10402572:T:C
Gene:: MARCHF6 (Varview), MIR10397 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.10402573T>C, NC_000005.9:g.10402685T>C, NM_005885.4:c.1163T>C, NM_005885.3:c.1163T>C, XM_011513936.4:c.1163T>C, XM_011513936.3:c.1163T>C, XM_011513936.2:c.1163T>C, XM_011513936.1:c.1163T>C, XM_011513932.3:c.959T>C, XM_011513932.2:c.959T>C, XM_011513932.1:c.959T>C, XM_011513934.3:c.1163T>C, XM_011513934.2:c.1163T>C, XM_011513934.1:c.1163T>C, XR_925577.3:n.1367T>C, XR_925577.2:n.1369T>C, XR_925577.1:n.1384T>C, XM_017008944.3:c.1163T>C, XM_017008944.2:c.1163T>C, XM_017008944.1:c.1163T>C, NM_001270660.2:c.1019T>C, NM_001270660.1:c.1019T>C, NM_001270661.2:c.848T>C, NM_001270661.1:c.848T>C, XM_047416611.1:c.833T>C, XM_047416613.1:c.689T>C, XM_047416614.1:c.-38T>C, XM_047416612.1:c.1163T>C, NP_005876.2:p.Leu388Pro, XP_011512238.1:p.Leu388Pro, XP_011512234.1:p.Leu320Pro, XP_011512236.1:p.Leu388Pro, XP_016864433.1:p.Leu388Pro, NP_001257589.1:p.Leu340Pro, NP_001257590.1:p.Leu283Pro, XP_047272567.1:p.Leu278Pro, XP_047272569.1:p.Leu230Pro, XP_047272568.1:p.Leu388Pro

Select item 14883650962.

rs1488365096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:10400797 (GRCh38)
5:10400909 (GRCh37)
Canonical SPDI:: NC_000005.10:10400796:C:T
Gene:: MARCHF6 (Varview), MIR10397 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.10400797C>T, NC_000005.9:g.10400909C>T, NM_005885.4:c.927C>T, NM_005885.3:c.927C>T, XM_011513936.4:c.927C>T, XM_011513936.3:c.927C>T, XM_011513936.2:c.927C>T, XM_011513936.1:c.927C>T, XM_011513932.3:c.723C>T, XM_011513932.2:c.723C>T, XM_011513932.1:c.723C>T, XM_011513934.3:c.927C>T, XM_011513934.2:c.927C>T, XM_011513934.1:c.927C>T, XR_925577.3:n.1131C>T, XR_925577.2:n.1133C>T, XR_925577.1:n.1148C>T, XM_017008944.3:c.927C>T, XM_017008944.2:c.927C>T, XM_017008944.1:c.927C>T, NM_001270660.2:c.783C>T, NM_001270660.1:c.783C>T, NM_001270661.2:c.612C>T, NM_001270661.1:c.612C>T, XM_047416611.1:c.597C>T, XM_047416613.1:c.453C>T, XM_047416612.1:c.927C>T

Select item 14870870463.

rs1487087046 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAATGAGGAGGA>- [Show Flanks]
Chromosome:: 5:10391670 (GRCh38)
5:10391782 (GRCh37)
Canonical SPDI:: NC_000005.10:10391661:GAGGAGGACAATGAGGAGGA:GAGGAGGA
Gene:: MARCHF6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAGGA=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.10391670_10391681del, NC_000005.9:g.10391782_10391793del, NM_005885.4:c.705_716del, NM_005885.3:c.705_716del, XM_011513936.4:c.705_716del, XM_011513936.3:c.705_716del, XM_011513936.2:c.705_716del, XM_011513936.1:c.705_716del, XM_011513932.3:c.501_512del, XM_011513932.2:c.501_512del, XM_011513932.1:c.501_512del, XM_011513934.3:c.705_716del, XM_011513934.2:c.705_716del, XM_011513934.1:c.705_716del, XR_925577.3:n.909_920del, XR_925577.2:n.911_922del, XR_925577.1:n.926_937del, XM_017008944.3:c.705_716del, XM_017008944.2:c.705_716del, XM_017008944.1:c.705_716del, NM_001270660.2:c.561_572del, NM_001270660.1:c.561_572del, NM_001270661.2:c.390_401del, NM_001270661.1:c.390_401del, XM_047416611.1:c.375_386del, XM_047416613.1:c.231_242del, XM_047416612.1:c.705_716del, NP_005876.2:p.Asp235_Glu238del, XP_011512238.1:p.Asp235_Glu238del, XP_011512234.1:p.Asp167_Glu170del, XP_011512236.1:p.Asp235_Glu238del, XP_016864433.1:p.Asp235_Glu238del, NP_001257589.1:p.Asp187_Glu190del, NP_001257590.1:p.Asp130_Glu133del, XP_047272567.1:p.Asp125_Glu128del, XP_047272569.1:p.Asp77_Glu80del, XP_047272568.1:p.Asp235_Glu238del

Select item 14821672694.

rs1482167269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:10411397 (GRCh38)
5:10411509 (GRCh37)
Canonical SPDI:: NC_000005.10:10411396:A:C
Gene:: MARCHF6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.10411397A>C, NC_000005.9:g.10411509A>C, NM_005885.4:c.1756A>C, NM_005885.3:c.1756A>C, XM_011513936.4:c.1756A>C, XM_011513936.3:c.1756A>C, XM_011513936.2:c.1756A>C, XM_011513936.1:c.1756A>C, XM_011513932.3:c.1552A>C, XM_011513932.2:c.1552A>C, XM_011513932.1:c.1552A>C, XM_011513934.3:c.1756A>C, XM_011513934.2:c.1756A>C, XM_011513934.1:c.1756A>C, XR_925577.3:n.1960A>C, XR_925577.2:n.1962A>C, XR_925577.1:n.1977A>C, NM_001270660.2:c.1612A>C, NM_001270660.1:c.1612A>C, NM_001270661.2:c.1441A>C, NM_001270661.1:c.1441A>C, XM_047416611.1:c.1426A>C, XM_047416613.1:c.1282A>C, XM_047416614.1:c.556A>C, XM_047416612.1:c.1756A>C, NP_005876.2:p.Asn586His, XP_011512238.1:p.Asn586His, XP_011512234.1:p.Asn518His, XP_011512236.1:p.Asn586His, NP_001257589.1:p.Asn538His, NP_001257590.1:p.Asn481His, XP_047272567.1:p.Asn476His, XP_047272569.1:p.Asn428His, XP_047272570.1:p.Asn186His, XP_047272568.1:p.Asn586His

Select item 14809882385.

rs1480988238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:10402386 (GRCh38)
5:10402498 (GRCh37)
Canonical SPDI:: NC_000005.10:10402385:C:T
Gene:: MARCHF6 (Varview), MIR10397 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.10402386C>T, NC_000005.9:g.10402498C>T, NM_005885.4:c.1056C>T, NM_005885.3:c.1056C>T, XM_011513936.4:c.1056C>T, XM_011513936.3:c.1056C>T, XM_011513936.2:c.1056C>T, XM_011513936.1:c.1056C>T, XM_011513932.3:c.852C>T, XM_011513932.2:c.852C>T, XM_011513932.1:c.852C>T, XM_011513934.3:c.1056C>T, XM_011513934.2:c.1056C>T, XM_011513934.1:c.1056C>T, XR_925577.3:n.1260C>T, XR_925577.2:n.1262C>T, XR_925577.1:n.1277C>T, XM_017008944.3:c.1056C>T, XM_017008944.2:c.1056C>T, XM_017008944.1:c.1056C>T, NM_001270660.2:c.912C>T, NM_001270660.1:c.912C>T, NM_001270661.2:c.741C>T, NM_001270661.1:c.741C>T, XM_047416611.1:c.726C>T, XM_047416613.1:c.582C>T, XM_047416614.1:c.-145C>T, XM_047416612.1:c.1056C>T, NR_162106.1:n.23C>T

Select item 14809209996.

rs1480920999 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:10394758 (GRCh38)
5:10394870 (GRCh37)
Canonical SPDI:: NC_000005.10:10394757:A:G
Gene:: MARCHF6 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000005.10:g.10394758A>G, NC_000005.9:g.10394870A>G, NM_005885.4:c.834A>G, NM_005885.3:c.834A>G, XM_011513936.4:c.834A>G, XM_011513936.3:c.834A>G, XM_011513936.2:c.834A>G, XM_011513936.1:c.834A>G, XM_011513932.3:c.630A>G, XM_011513932.2:c.630A>G, XM_011513932.1:c.630A>G, XM_011513934.3:c.834A>G, XM_011513934.2:c.834A>G, XM_011513934.1:c.834A>G, XR_925577.3:n.1038A>G, XR_925577.2:n.1040A>G, XR_925577.1:n.1055A>G, XM_017008944.3:c.834A>G, XM_017008944.2:c.834A>G, XM_017008944.1:c.834A>G, NM_001270660.2:c.690A>G, NM_001270660.1:c.690A>G, NM_001270661.2:c.519A>G, NM_001270661.1:c.519A>G, XM_047416611.1:c.504A>G, XM_047416613.1:c.360A>G, XM_047416612.1:c.834A>G

Select item 14808708517.

rs1480870851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:10386996 (GRCh38)
5:10387108 (GRCh37)
Canonical SPDI:: NC_000005.10:10386995:C:T
Gene:: MARCHF6 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.10386996C>T, NC_000005.9:g.10387108C>T, NM_005885.4:c.337C>T, NM_005885.3:c.337C>T, XM_011513936.4:c.337C>T, XM_011513936.3:c.337C>T, XM_011513936.2:c.337C>T, XM_011513936.1:c.337C>T, XM_011513932.3:c.133C>T, XM_011513932.2:c.133C>T, XM_011513932.1:c.133C>T, XM_011513934.3:c.337C>T, XM_011513934.2:c.337C>T, XM_011513934.1:c.337C>T, XR_925577.3:n.541C>T, XR_925577.2:n.543C>T, XR_925577.1:n.558C>T, XM_017008944.3:c.337C>T, XM_017008944.2:c.337C>T, XM_017008944.1:c.337C>T, NM_001270660.2:c.193C>T, NM_001270660.1:c.193C>T, NM_001270661.2:c.22C>T, NM_001270661.1:c.22C>T, XM_047416611.1:c.176C>T, XM_047416613.1:c.32C>T, XM_047416612.1:c.337C>T, NP_005876.2:p.Arg113Cys, XP_011512238.1:p.Arg113Cys, XP_011512234.1:p.Arg45Cys, XP_011512236.1:p.Arg113Cys, XP_016864433.1:p.Arg113Cys, NP_001257589.1:p.Arg65Cys, NP_001257590.1:p.Arg8Cys, XP_047272567.1:p.Pro59Leu, XP_047272569.1:p.Pro11Leu, XP_047272568.1:p.Arg113Cys

Select item 14803025768.

rs1480302576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:10400818 (GRCh38)
5:10400930 (GRCh37)
Canonical SPDI:: NC_000005.10:10400817:T:C
Gene:: MARCHF6 (Varview), MIR10397 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_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_000005.10:g.10400818T>C, NC_000005.9:g.10400930T>C, NM_005885.4:c.948T>C, NM_005885.3:c.948T>C, XM_011513936.4:c.948T>C, XM_011513936.3:c.948T>C, XM_011513936.2:c.948T>C, XM_011513936.1:c.948T>C, XM_011513932.3:c.744T>C, XM_011513932.2:c.744T>C, XM_011513932.1:c.744T>C, XM_011513934.3:c.948T>C, XM_011513934.2:c.948T>C, XM_011513934.1:c.948T>C, XR_925577.3:n.1152T>C, XR_925577.2:n.1154T>C, XR_925577.1:n.1169T>C, XM_017008944.3:c.948T>C, XM_017008944.2:c.948T>C, XM_017008944.1:c.948T>C, NM_001270660.2:c.804T>C, NM_001270660.1:c.804T>C, NM_001270661.2:c.633T>C, NM_001270661.1:c.633T>C, XM_047416611.1:c.618T>C, XM_047416613.1:c.474T>C, XM_047416612.1:c.948T>C

Select item 14795258439.

rs1479525843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:10391546 (GRCh38)
5:10391658 (GRCh37)
Canonical SPDI:: NC_000005.10:10391545:C:T
Gene:: MARCHF6 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.10391546C>T, NC_000005.9:g.10391658C>T, NM_005885.4:c.581C>T, NM_005885.3:c.581C>T, XM_011513936.4:c.581C>T, XM_011513936.3:c.581C>T, XM_011513936.2:c.581C>T, XM_011513936.1:c.581C>T, XM_011513932.3:c.377C>T, XM_011513932.2:c.377C>T, XM_011513932.1:c.377C>T, XM_011513934.3:c.581C>T, XM_011513934.2:c.581C>T, XM_011513934.1:c.581C>T, XR_925577.3:n.785C>T, XR_925577.2:n.787C>T, XR_925577.1:n.802C>T, XM_017008944.3:c.581C>T, XM_017008944.2:c.581C>T, XM_017008944.1:c.581C>T, NM_001270660.2:c.437C>T, NM_001270660.1:c.437C>T, NM_001270661.2:c.266C>T, NM_001270661.1:c.266C>T, XM_047416611.1:c.251C>T, XM_047416613.1:c.107C>T, XM_047416612.1:c.581C>T, NP_005876.2:p.Pro194Leu, XP_011512238.1:p.Pro194Leu, XP_011512234.1:p.Pro126Leu, XP_011512236.1:p.Pro194Leu, XP_016864433.1:p.Pro194Leu, NP_001257589.1:p.Pro146Leu, NP_001257590.1:p.Pro89Leu, XP_047272567.1:p.Pro84Leu, XP_047272569.1:p.Pro36Leu, XP_047272568.1:p.Pro194Leu

Select item 147666837910.

rs1476668379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:10391592 (GRCh38)
5:10391704 (GRCh37)
Canonical SPDI:: NC_000005.10:10391591:T:C
Gene:: MARCHF6 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.10391592T>C, NC_000005.9:g.10391704T>C, NM_005885.4:c.627T>C, NM_005885.3:c.627T>C, XM_011513936.4:c.627T>C, XM_011513936.3:c.627T>C, XM_011513936.2:c.627T>C, XM_011513936.1:c.627T>C, XM_011513932.3:c.423T>C, XM_011513932.2:c.423T>C, XM_011513932.1:c.423T>C, XM_011513934.3:c.627T>C, XM_011513934.2:c.627T>C, XM_011513934.1:c.627T>C, XR_925577.3:n.831T>C, XR_925577.2:n.833T>C, XR_925577.1:n.848T>C, XM_017008944.3:c.627T>C, XM_017008944.2:c.627T>C, XM_017008944.1:c.627T>C, NM_001270660.2:c.483T>C, NM_001270660.1:c.483T>C, NM_001270661.2:c.312T>C, NM_001270661.1:c.312T>C, XM_047416611.1:c.297T>C, XM_047416613.1:c.153T>C, XM_047416612.1:c.627T>C

Select item 147539943611.

rs1475399436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:10410230 (GRCh38)
5:10410342 (GRCh37)
Canonical SPDI:: NC_000005.10:10410229:C:A
Gene:: MARCHF6 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,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_000005.10:g.10410230C>A, NC_000005.9:g.10410342C>A, NM_005885.4:c.1645C>A, NM_005885.3:c.1645C>A, XM_011513936.4:c.1645C>A, XM_011513936.3:c.1645C>A, XM_011513936.2:c.1645C>A, XM_011513936.1:c.1645C>A, XM_011513932.3:c.1441C>A, XM_011513932.2:c.1441C>A, XM_011513932.1:c.1441C>A, XM_011513934.3:c.1645C>A, XM_011513934.2:c.1645C>A, XM_011513934.1:c.1645C>A, XR_925577.3:n.1849C>A, XR_925577.2:n.1851C>A, XR_925577.1:n.1866C>A, NM_001270660.2:c.1501C>A, NM_001270660.1:c.1501C>A, NM_001270661.2:c.1330C>A, NM_001270661.1:c.1330C>A, XM_047416611.1:c.1315C>A, XM_047416613.1:c.1171C>A, XM_047416614.1:c.445C>A, XM_047416612.1:c.1645C>A, NP_005876.2:p.Leu549Met, XP_011512238.1:p.Leu549Met, XP_011512234.1:p.Leu481Met, XP_011512236.1:p.Leu549Met, NP_001257589.1:p.Leu501Met, NP_001257590.1:p.Leu444Met, XP_047272567.1:p.Leu439Met, XP_047272569.1:p.Leu391Met, XP_047272570.1:p.Leu149Met, XP_047272568.1:p.Leu549Met

Select item 147522261712.

rs1475222617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:10407160 (GRCh38)
5:10407272 (GRCh37)
Canonical SPDI:: NC_000005.10:10407159:G:A,NC_000005.10:10407159:G:T
Gene:: MARCHF6 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.10407160G>A, NC_000005.10:g.10407160G>T, NC_000005.9:g.10407272G>A, NC_000005.9:g.10407272G>T, NM_005885.4:c.1511G>A, NM_005885.4:c.1511G>T, NM_005885.3:c.1511G>A, NM_005885.3:c.1511G>T, XM_011513936.4:c.1511G>A, XM_011513936.4:c.1511G>T, XM_011513936.3:c.1511G>A, XM_011513936.3:c.1511G>T, XM_011513936.2:c.1511G>A, XM_011513936.2:c.1511G>T, XM_011513936.1:c.1511G>A, XM_011513936.1:c.1511G>T, XM_011513932.3:c.1307G>A, XM_011513932.3:c.1307G>T, XM_011513932.2:c.1307G>A, XM_011513932.2:c.1307G>T, XM_011513932.1:c.1307G>A, XM_011513932.1:c.1307G>T, XM_011513934.3:c.1511G>A, XM_011513934.3:c.1511G>T, XM_011513934.2:c.1511G>A, XM_011513934.2:c.1511G>T, XM_011513934.1:c.1511G>A, XM_011513934.1:c.1511G>T, XR_925577.3:n.1715G>A, XR_925577.3:n.1715G>T, XR_925577.2:n.1717G>A, XR_925577.2:n.1717G>T, XR_925577.1:n.1732G>A, XR_925577.1:n.1732G>T, NM_001270660.2:c.1367G>A, NM_001270660.2:c.1367G>T, NM_001270660.1:c.1367G>A, NM_001270660.1:c.1367G>T, NM_001270661.2:c.1196G>A, NM_001270661.2:c.1196G>T, NM_001270661.1:c.1196G>A, NM_001270661.1:c.1196G>T, XM_047416611.1:c.1181G>A, XM_047416611.1:c.1181G>T, XM_047416613.1:c.1037G>A, XM_047416613.1:c.1037G>T, XM_047416614.1:c.311G>A, XM_047416614.1:c.311G>T, XM_047416612.1:c.1511G>A, XM_047416612.1:c.1511G>T, NP_005876.2:p.Ser504Asn, NP_005876.2:p.Ser504Ile, XP_011512238.1:p.Ser504Asn, XP_011512238.1:p.Ser504Ile, XP_011512234.1:p.Ser436Asn, XP_011512234.1:p.Ser436Ile, XP_011512236.1:p.Ser504Asn, XP_011512236.1:p.Ser504Ile, NP_001257589.1:p.Ser456Asn, NP_001257589.1:p.Ser456Ile, NP_001257590.1:p.Ser399Asn, NP_001257590.1:p.Ser399Ile, XP_047272567.1:p.Ser394Asn, XP_047272567.1:p.Ser394Ile, XP_047272569.1:p.Ser346Asn, XP_047272569.1:p.Ser346Ile, XP_047272570.1:p.Ser104Asn, XP_047272570.1:p.Ser104Ile, XP_047272568.1:p.Ser504Asn, XP_047272568.1:p.Ser504Ile

Select item 147219819713.

rs1472198197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:10391670 (GRCh38)
5:10391782 (GRCh37)
Canonical SPDI:: NC_000005.10:10391669:C:T
Gene:: MARCHF6 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.10391670C>T, NC_000005.9:g.10391782C>T, NM_005885.4:c.705C>T, NM_005885.3:c.705C>T, XM_011513936.4:c.705C>T, XM_011513936.3:c.705C>T, XM_011513936.2:c.705C>T, XM_011513936.1:c.705C>T, XM_011513932.3:c.501C>T, XM_011513932.2:c.501C>T, XM_011513932.1:c.501C>T, XM_011513934.3:c.705C>T, XM_011513934.2:c.705C>T, XM_011513934.1:c.705C>T, XR_925577.3:n.909C>T, XR_925577.2:n.911C>T, XR_925577.1:n.926C>T, XM_017008944.3:c.705C>T, XM_017008944.2:c.705C>T, XM_017008944.1:c.705C>T, NM_001270660.2:c.561C>T, NM_001270660.1:c.561C>T, NM_001270661.2:c.390C>T, NM_001270661.1:c.390C>T, XM_047416611.1:c.375C>T, XM_047416613.1:c.231C>T, XM_047416612.1:c.705C>T

Select item 146875896214.

rs1468758962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:10403510 (GRCh38)
5:10403622 (GRCh37)
Canonical SPDI:: NC_000005.10:10403509:A:C,NC_000005.10:10403509:A:G
Gene:: MARCHF6 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.10403510A>C, NC_000005.10:g.10403510A>G, NC_000005.9:g.10403622A>C, NC_000005.9:g.10403622A>G, NM_005885.4:c.1301A>C, NM_005885.4:c.1301A>G, NM_005885.3:c.1301A>C, NM_005885.3:c.1301A>G, XM_011513936.4:c.1301A>C, XM_011513936.4:c.1301A>G, XM_011513936.3:c.1301A>C, XM_011513936.3:c.1301A>G, XM_011513936.2:c.1301A>C, XM_011513936.2:c.1301A>G, XM_011513936.1:c.1301A>C, XM_011513936.1:c.1301A>G, XM_011513932.3:c.1097A>C, XM_011513932.3:c.1097A>G, XM_011513932.2:c.1097A>C, XM_011513932.2:c.1097A>G, XM_011513932.1:c.1097A>C, XM_011513932.1:c.1097A>G, XM_011513934.3:c.1301A>C, XM_011513934.3:c.1301A>G, XM_011513934.2:c.1301A>C, XM_011513934.2:c.1301A>G, XM_011513934.1:c.1301A>C, XM_011513934.1:c.1301A>G, XR_925577.3:n.1505A>C, XR_925577.3:n.1505A>G, XR_925577.2:n.1507A>C, XR_925577.2:n.1507A>G, XR_925577.1:n.1522A>C, XR_925577.1:n.1522A>G, XM_017008944.3:c.1301A>C, XM_017008944.3:c.1301A>G, XM_017008944.2:c.1301A>C, XM_017008944.2:c.1301A>G, XM_017008944.1:c.1301A>C, XM_017008944.1:c.1301A>G, NM_001270660.2:c.1157A>C, NM_001270660.2:c.1157A>G, NM_001270660.1:c.1157A>C, NM_001270660.1:c.1157A>G, NM_001270661.2:c.986A>C, NM_001270661.2:c.986A>G, NM_001270661.1:c.986A>C, NM_001270661.1:c.986A>G, XM_047416611.1:c.971A>C, XM_047416611.1:c.971A>G, XM_047416613.1:c.827A>C, XM_047416613.1:c.827A>G, XM_047416614.1:c.101A>C, XM_047416614.1:c.101A>G, XM_047416612.1:c.1301A>C, XM_047416612.1:c.1301A>G, NP_005876.2:p.Tyr434Ser, NP_005876.2:p.Tyr434Cys, XP_011512238.1:p.Tyr434Ser, XP_011512238.1:p.Tyr434Cys, XP_011512234.1:p.Tyr366Ser, XP_011512234.1:p.Tyr366Cys, XP_011512236.1:p.Tyr434Ser, XP_011512236.1:p.Tyr434Cys, XP_016864433.1:p.Tyr434Ser, XP_016864433.1:p.Tyr434Cys, NP_001257589.1:p.Tyr386Ser, NP_001257589.1:p.Tyr386Cys, NP_001257590.1:p.Tyr329Ser, NP_001257590.1:p.Tyr329Cys, XP_047272567.1:p.Tyr324Ser, XP_047272567.1:p.Tyr324Cys, XP_047272569.1:p.Tyr276Ser, XP_047272569.1:p.Tyr276Cys, XP_047272570.1:p.Tyr34Ser, XP_047272570.1:p.Tyr34Cys, XP_047272568.1:p.Tyr434Ser, XP_047272568.1:p.Tyr434Cys

Select item 146684551215.

rs1466845512 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:10391672 (GRCh38)
5:10391784 (GRCh37)
Canonical SPDI:: NC_000005.10:10391671:A:G
Gene:: MARCHF6 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.10391672A>G, NC_000005.9:g.10391784A>G, NM_005885.4:c.707A>G, NM_005885.3:c.707A>G, XM_011513936.4:c.707A>G, XM_011513936.3:c.707A>G, XM_011513936.2:c.707A>G, XM_011513936.1:c.707A>G, XM_011513932.3:c.503A>G, XM_011513932.2:c.503A>G, XM_011513932.1:c.503A>G, XM_011513934.3:c.707A>G, XM_011513934.2:c.707A>G, XM_011513934.1:c.707A>G, XR_925577.3:n.911A>G, XR_925577.2:n.913A>G, XR_925577.1:n.928A>G, XM_017008944.3:c.707A>G, XM_017008944.2:c.707A>G, XM_017008944.1:c.707A>G, NM_001270660.2:c.563A>G, NM_001270660.1:c.563A>G, NM_001270661.2:c.392A>G, NM_001270661.1:c.392A>G, XM_047416611.1:c.377A>G, XM_047416613.1:c.233A>G, XM_047416612.1:c.707A>G, NP_005876.2:p.Asn236Ser, XP_011512238.1:p.Asn236Ser, XP_011512234.1:p.Asn168Ser, XP_011512236.1:p.Asn236Ser, XP_016864433.1:p.Asn236Ser, NP_001257589.1:p.Asn188Ser, NP_001257590.1:p.Asn131Ser, XP_047272567.1:p.Asn126Ser, XP_047272569.1:p.Asn78Ser, XP_047272568.1:p.Asn236Ser

Select item 146569942416.

rs1465699424 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGG [Show Flanks]
Chromosome:: 5:10353907 (GRCh38)
5:10354020 (GRCh37)
Canonical SPDI:: NC_000005.10:10353907:GCGG:GCGGCGG
Gene:: MARCHF6 (Varview), LOC101929977 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,inframe_insertion,intron_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGGCGG=0.000264/4 (ALFA)
GCG=0.000036/5 (GnomAD)
GCG=0.000893/4 (Estonian)
HGVS:: NC_000005.10:g.10353909_10353911dup, NC_000005.9:g.10354021_10354023dup, NM_005885.4:c.11_13dup, NM_005885.3:c.11_13dup, XM_011513936.4:c.11_13dup, XM_011513936.3:c.11_13dup, XM_011513936.2:c.11_13dup, XM_011513936.1:c.11_13dup, XM_011513932.3:c.-1319_-1317dup, XM_011513934.3:c.11_13dup, XM_011513934.2:c.11_13dup, XM_011513934.1:c.11_13dup, XR_925577.3:n.215_217dup, XR_925577.2:n.217_219dup, XR_925577.1:n.232_234dup, XM_017008944.3:c.11_13dup, XM_017008944.2:c.11_13dup, XM_017008944.1:c.11_13dup, NM_001270660.2:c.11_13dup, NM_001270660.1:c.11_13dup, NM_001270661.2:c.11_13dup, NM_001270661.1:c.11_13dup, XM_047416611.1:c.-1276_-1274dup, XM_047416613.1:c.-1276_-1274dup, XM_047416612.1:c.11_13dup, NP_005876.2:p.Ala4dup, XP_011512238.1:p.Ala4dup, XP_011512236.1:p.Ala4dup, XP_016864433.1:p.Ala4dup, NP_001257589.1:p.Ala4dup, NP_001257590.1:p.Ala4dup, XP_047272568.1:p.Ala4dup

Select item 146232785617.

rs1462327856 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:10410210 (GRCh38)
5:10410322 (GRCh37)
Canonical SPDI:: NC_000005.10:10410209:A:T
Gene:: MARCHF6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.10410210A>T, NC_000005.9:g.10410322A>T, NM_005885.4:c.1625A>T, NM_005885.3:c.1625A>T, XM_011513936.4:c.1625A>T, XM_011513936.3:c.1625A>T, XM_011513936.2:c.1625A>T, XM_011513936.1:c.1625A>T, XM_011513932.3:c.1421A>T, XM_011513932.2:c.1421A>T, XM_011513932.1:c.1421A>T, XM_011513934.3:c.1625A>T, XM_011513934.2:c.1625A>T, XM_011513934.1:c.1625A>T, XR_925577.3:n.1829A>T, XR_925577.2:n.1831A>T, XR_925577.1:n.1846A>T, NM_001270660.2:c.1481A>T, NM_001270660.1:c.1481A>T, NM_001270661.2:c.1310A>T, NM_001270661.1:c.1310A>T, XM_047416611.1:c.1295A>T, XM_047416613.1:c.1151A>T, XM_047416614.1:c.425A>T, XM_047416612.1:c.1625A>T, NP_005876.2:p.Gln542Leu, XP_011512238.1:p.Gln542Leu, XP_011512234.1:p.Gln474Leu, XP_011512236.1:p.Gln542Leu, NP_001257589.1:p.Gln494Leu, NP_001257590.1:p.Gln437Leu, XP_047272567.1:p.Gln432Leu, XP_047272569.1:p.Gln384Leu, XP_047272570.1:p.Gln142Leu, XP_047272568.1:p.Gln542Leu

Select item 145459334418.

rs1454593344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:10405563 (GRCh38)
5:10405675 (GRCh37)
Canonical SPDI:: NC_000005.10:10405562:T:C
Gene:: MARCHF6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_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_000005.10:g.10405563T>C, NC_000005.9:g.10405675T>C, NM_005885.4:c.1338T>C, NM_005885.3:c.1338T>C, XM_011513936.4:c.1338T>C, XM_011513936.3:c.1338T>C, XM_011513936.2:c.1338T>C, XM_011513936.1:c.1338T>C, XM_011513932.3:c.1134T>C, XM_011513932.2:c.1134T>C, XM_011513932.1:c.1134T>C, XM_011513934.3:c.1338T>C, XM_011513934.2:c.1338T>C, XM_011513934.1:c.1338T>C, XR_925577.3:n.1542T>C, XR_925577.2:n.1544T>C, XR_925577.1:n.1559T>C, NM_001270660.2:c.1194T>C, NM_001270660.1:c.1194T>C, NM_001270661.2:c.1023T>C, NM_001270661.1:c.1023T>C, XM_047416611.1:c.1008T>C, XM_047416613.1:c.864T>C, XM_047416614.1:c.138T>C, XM_047416612.1:c.1338T>C

Select item 145024153819.

rs1450241538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:10405617 (GRCh38)
5:10405729 (GRCh37)
Canonical SPDI:: NC_000005.10:10405616:A:C
Gene:: MARCHF6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.10405617A>C, NC_000005.9:g.10405729A>C, NM_005885.4:c.1392A>C, NM_005885.3:c.1392A>C, XM_011513936.4:c.1392A>C, XM_011513936.3:c.1392A>C, XM_011513936.2:c.1392A>C, XM_011513936.1:c.1392A>C, XM_011513932.3:c.1188A>C, XM_011513932.2:c.1188A>C, XM_011513932.1:c.1188A>C, XM_011513934.3:c.1392A>C, XM_011513934.2:c.1392A>C, XM_011513934.1:c.1392A>C, XR_925577.3:n.1596A>C, XR_925577.2:n.1598A>C, XR_925577.1:n.1613A>C, NM_001270660.2:c.1248A>C, NM_001270660.1:c.1248A>C, NM_001270661.2:c.1077A>C, NM_001270661.1:c.1077A>C, XM_047416611.1:c.1062A>C, XM_047416613.1:c.918A>C, XM_047416614.1:c.192A>C, XM_047416612.1:c.1392A>C

Select item 144885807320.

rs1448858073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:10381829 (GRCh38)
5:10381941 (GRCh37)
Canonical SPDI:: NC_000005.10:10381828:C:A
Gene:: MARCHF6 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.10381829C>A, NC_000005.9:g.10381941C>A, NM_005885.4:c.220C>A, NM_005885.3:c.220C>A, XM_011513936.4:c.220C>A, XM_011513936.3:c.220C>A, XM_011513936.2:c.220C>A, XM_011513936.1:c.220C>A, XM_011513932.3:c.16C>A, XM_011513932.2:c.16C>A, XM_011513932.1:c.16C>A, XM_011513934.3:c.220C>A, XM_011513934.2:c.220C>A, XM_011513934.1:c.220C>A, XR_925577.3:n.424C>A, XR_925577.2:n.426C>A, XR_925577.1:n.441C>A, XM_017008944.3:c.220C>A, XM_017008944.2:c.220C>A, XM_017008944.1:c.220C>A, XM_047416611.1:c.59C>A, XM_047416612.1:c.220C>A, NP_005876.2:p.Pro74Thr, XP_011512238.1:p.Pro74Thr, XP_011512234.1:p.Pro6Thr, XP_011512236.1:p.Pro74Thr, XP_016864433.1:p.Pro74Thr, XP_047272567.1:p.Ser20Tyr, XP_047272568.1:p.Pro74Thr

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