SNP Links for Protein (Select 544583444) - SNP

Links from Protein

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Select item 14890966841.

rs1489096684 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:45458401 (GRCh38)
10:45953849 (GRCh37)
Canonical SPDI:: NC_000010.11:45458400:A:G
Gene:: MARCHF8 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000068/3 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
G=0.000043/6 (GnomAD)
HGVS:: NC_000010.11:g.45458401A>G, NC_000010.10:g.45953849A>G, NW_003315935.1:g.299232A>G, NM_145021.6:c.714T>C, NM_145021.5:c.714T>C, NM_145021.4:c.714T>C, XM_011539492.4:c.1560T>C, XM_011539492.3:c.1560T>C, XM_011539492.2:c.1560T>C, XM_011539492.1:c.1560T>C, NM_001002266.3:c.714T>C, NM_001002266.2:c.714T>C, NM_001002266.1:c.714T>C, NM_001282866.2:c.1560T>C, NM_001282866.1:c.1560T>C, XM_011539495.2:c.714T>C, XM_011539495.1:c.714T>C, XM_047424764.1:c.1560T>C, XM_047424765.1:c.1560T>C, NM_001401645.1:c.1560T>C, NM_001401646.1:c.1560T>C, XM_047424763.1:c.1560T>C, XM_047424769.1:c.714T>C, XM_047424766.1:c.1560T>C, XM_047424768.1:c.714T>C, XM_047424767.1:c.714T>C, NM_001002265.1:c.714T>C

Select item 14884355762.

rs1488435576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:45463845 (GRCh38)
10:45959293 (GRCh37)
Canonical SPDI:: NC_000010.11:45463844:A:C
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000671/3 (ALFA)
C=0.000021/3 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000010.11:g.45463845A>C, NC_000010.10:g.45959293A>C, NW_003315935.1:g.304676A>C, XM_011539492.4:c.394T>G, XM_011539492.3:c.394T>G, XM_011539492.2:c.394T>G, XM_011539492.1:c.394T>G, NM_001282866.2:c.394T>G, NM_001282866.1:c.394T>G, XM_047424764.1:c.394T>G, XM_047424765.1:c.394T>G, NM_001401645.1:c.394T>G, NM_001401646.1:c.394T>G, XM_047424763.1:c.394T>G, XM_047424766.1:c.394T>G, XR_007061947.1:n.1145T>G, XP_011537794.1:p.Phe132Val, NP_001269795.1:p.Phe132Val, XP_047280720.1:p.Phe132Val, XP_047280721.1:p.Phe132Val, NP_001388574.1:p.Phe132Val, NP_001388575.1:p.Phe132Val, XP_047280719.1:p.Phe132Val, XP_047280722.1:p.Phe132Val

Select item 14872272383.

rs1487227238 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:45463724 (GRCh38)
10:45959172 (GRCh37)
Canonical SPDI:: NC_000010.11:45463723:A:C,NC_000010.11:45463723:A:G
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.45463724A>C, NC_000010.11:g.45463724A>G, NC_000010.10:g.45959172A>C, NC_000010.10:g.45959172A>G, NW_003315935.1:g.304555A>C, NW_003315935.1:g.304555A>G, XM_011539492.4:c.515T>G, XM_011539492.4:c.515T>C, XM_011539492.3:c.515T>G, XM_011539492.3:c.515T>C, XM_011539492.2:c.515T>G, XM_011539492.2:c.515T>C, XM_011539492.1:c.515T>G, XM_011539492.1:c.515T>C, NM_001282866.2:c.515T>G, NM_001282866.2:c.515T>C, NM_001282866.1:c.515T>G, NM_001282866.1:c.515T>C, XM_047424764.1:c.515T>G, XM_047424764.1:c.515T>C, XM_047424765.1:c.515T>G, XM_047424765.1:c.515T>C, NM_001401645.1:c.515T>G, NM_001401645.1:c.515T>C, NM_001401646.1:c.515T>G, NM_001401646.1:c.515T>C, XM_047424763.1:c.515T>G, XM_047424763.1:c.515T>C, XM_047424766.1:c.515T>G, XM_047424766.1:c.515T>C, XR_007061947.1:n.1266T>G, XR_007061947.1:n.1266T>C, XP_011537794.1:p.Phe172Cys, XP_011537794.1:p.Phe172Ser, NP_001269795.1:p.Phe172Cys, NP_001269795.1:p.Phe172Ser, XP_047280720.1:p.Phe172Cys, XP_047280720.1:p.Phe172Ser, XP_047280721.1:p.Phe172Cys, XP_047280721.1:p.Phe172Ser, NP_001388574.1:p.Phe172Cys, NP_001388574.1:p.Phe172Ser, NP_001388575.1:p.Phe172Cys, NP_001388575.1:p.Phe172Ser, XP_047280719.1:p.Phe172Cys, XP_047280719.1:p.Phe172Ser, XP_047280722.1:p.Phe172Cys, XP_047280722.1:p.Phe172Ser

Select item 14867836304.

rs1486783630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:45463909 (GRCh38)
10:45959357 (GRCh37)
Canonical SPDI:: NC_000010.11:45463908:C:A
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000010.11:g.45463909C>A, NC_000010.10:g.45959357C>A, NW_003315935.1:g.304740C>A, XM_011539492.4:c.330G>T, XM_011539492.3:c.330G>T, XM_011539492.2:c.330G>T, XM_011539492.1:c.330G>T, XM_047424764.1:c.330G>T, XM_047424765.1:c.330G>T, NM_001401645.1:c.330G>T, NM_001401646.1:c.330G>T, XM_047424763.1:c.330G>T, NM_001282866.1:c.330G>T, NM_001282866.2:c.330G>T, XM_047424766.1:c.330G>T, XR_007061947.1:n.1081G>T

Select item 14834552055.

rs1483455205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:45463823 (GRCh38)
10:45959271 (GRCh37)
Canonical SPDI:: NC_000010.11:45463822:G:A,NC_000010.11:45463822:G:T
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.45463823G>A, NC_000010.11:g.45463823G>T, NC_000010.10:g.45959271G>A, NC_000010.10:g.45959271G>T, NW_003315935.1:g.304654G>A, NW_003315935.1:g.304654G>T, XM_011539492.4:c.416C>T, XM_011539492.4:c.416C>A, XM_011539492.3:c.416C>T, XM_011539492.3:c.416C>A, XM_011539492.2:c.416C>T, XM_011539492.2:c.416C>A, XM_011539492.1:c.416C>T, XM_011539492.1:c.416C>A, XM_047424764.1:c.416C>T, XM_047424764.1:c.416C>A, XM_047424765.1:c.416C>T, XM_047424765.1:c.416C>A, NM_001401645.1:c.416C>T, NM_001401645.1:c.416C>A, NM_001401646.1:c.416C>T, NM_001401646.1:c.416C>A, XM_047424763.1:c.416C>T, XM_047424763.1:c.416C>A, NM_001282866.1:c.416C>T, NM_001282866.1:c.416C>A, NM_001282866.2:c.416C>T, NM_001282866.2:c.416C>A, XM_047424766.1:c.416C>T, XM_047424766.1:c.416C>A, XR_007061947.1:n.1167C>T, XR_007061947.1:n.1167C>A, XP_011537794.1:p.Ala139Val, XP_011537794.1:p.Ala139Asp, XP_047280720.1:p.Ala139Val, XP_047280720.1:p.Ala139Asp, XP_047280721.1:p.Ala139Val, XP_047280721.1:p.Ala139Asp, NP_001388574.1:p.Ala139Val, NP_001388574.1:p.Ala139Asp, NP_001388575.1:p.Ala139Val, NP_001388575.1:p.Ala139Asp, XP_047280719.1:p.Ala139Val, XP_047280719.1:p.Ala139Asp, NP_001269795.1:p.Ala139Val, NP_001269795.1:p.Ala139Asp, XP_047280722.1:p.Ala139Val, XP_047280722.1:p.Ala139Asp

Select item 14828618126.

rs1482861812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:45458512 (GRCh38)
10:45953960 (GRCh37)
Canonical SPDI:: NC_000010.11:45458511:C:A
Gene:: MARCHF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.45458512C>A, NC_000010.10:g.45953960C>A, NW_003315935.1:g.299343C>A, NM_145021.6:c.603G>T, NM_145021.5:c.603G>T, NM_145021.4:c.603G>T, XM_011539492.4:c.1449G>T, XM_011539492.3:c.1449G>T, XM_011539492.2:c.1449G>T, XM_011539492.1:c.1449G>T, NM_001002266.3:c.603G>T, NM_001002266.2:c.603G>T, NM_001002266.1:c.603G>T, NM_001282866.2:c.1449G>T, NM_001282866.1:c.1449G>T, XM_011539495.2:c.603G>T, XM_011539495.1:c.603G>T, XM_047424764.1:c.1449G>T, XM_047424765.1:c.1449G>T, NM_001401645.1:c.1449G>T, NM_001401646.1:c.1449G>T, XM_047424763.1:c.1449G>T, XM_047424769.1:c.603G>T, XM_047424766.1:c.1449G>T, XM_047424768.1:c.603G>T, XM_047424767.1:c.603G>T, NM_001002265.1:c.603G>T, NP_659458.2:p.Leu201Phe, XP_011537794.1:p.Leu483Phe, NP_001002266.1:p.Leu201Phe, NP_001269795.1:p.Leu483Phe, XP_011537797.1:p.Leu201Phe, XP_047280720.1:p.Leu483Phe, XP_047280721.1:p.Leu483Phe, NP_001388574.1:p.Leu483Phe, NP_001388575.1:p.Leu483Phe, XP_047280719.1:p.Leu483Phe, XP_047280725.1:p.Leu201Phe, XP_047280722.1:p.Leu483Phe, XP_047280724.1:p.Leu201Phe, XP_047280723.1:p.Leu201Phe

Select item 14825997217.

rs1482599721 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:45463732 (GRCh38)
10:45959180 (GRCh37)
Canonical SPDI:: NC_000010.11:45463731:T:C
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.45463732T>C, NC_000010.10:g.45959180T>C, NW_003315935.1:g.304563T>C, XM_011539492.4:c.507A>G, XM_011539492.3:c.507A>G, XM_011539492.2:c.507A>G, XM_011539492.1:c.507A>G, NM_001282866.2:c.507A>G, NM_001282866.1:c.507A>G, XM_047424764.1:c.507A>G, XM_047424765.1:c.507A>G, NM_001401645.1:c.507A>G, NM_001401646.1:c.507A>G, XM_047424763.1:c.507A>G, XM_047424766.1:c.507A>G, XR_007061947.1:n.1258A>G

Select item 14822721918.

rs1482272191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:45463417 (GRCh38)
10:45958865 (GRCh37)
Canonical SPDI:: NC_000010.11:45463416:C:T
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000027/4 (GnomAD_exomes)
HGVS:: NC_000010.11:g.45463417C>T, NC_000010.10:g.45958865C>T, NW_003315935.1:g.304248C>T, XM_011539492.4:c.822G>A, XM_011539492.3:c.822G>A, XM_011539492.2:c.822G>A, XM_011539492.1:c.822G>A, XM_047424764.1:c.822G>A, XM_047424765.1:c.822G>A, NM_001401645.1:c.822G>A, NM_001401646.1:c.822G>A, XM_047424763.1:c.822G>A, NM_001282866.1:c.822G>A, NM_001282866.2:c.822G>A, XM_047424766.1:c.822G>A, XR_007061947.1:n.1573G>A

Select item 14784815179.

rs1478481517 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 10:45463928 (GRCh38)
10:45959376 (GRCh37)
Canonical SPDI:: NC_000010.11:45463927:GG:G
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000726/11 (ALFA)
-=0.00005/7 (GnomAD)
-=0.002009/9 (Estonian)
HGVS:: NC_000010.11:g.45463929del, NC_000010.10:g.45959377del, NW_003315935.1:g.304760del, XM_011539492.4:c.311del, XM_011539492.3:c.311del, XM_011539492.2:c.311del, XM_011539492.1:c.311del, XM_047424764.1:c.311del, XM_047424765.1:c.311del, NM_001401645.1:c.311del, NM_001401646.1:c.311del, XM_047424763.1:c.311del, NM_001282866.1:c.311del, NM_001282866.2:c.311del, XM_047424766.1:c.311del, XR_007061947.1:n.1062del, XP_011537794.1:p.Pro104fs, XP_047280720.1:p.Pro104fs, XP_047280721.1:p.Pro104fs, NP_001388574.1:p.Pro104fs, NP_001388575.1:p.Pro104fs, XP_047280719.1:p.Pro104fs, NP_001269795.1:p.Pro104fs, XP_047280722.1:p.Pro104fs

Select item 147508280010.

rs1475082800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:45459197 (GRCh38)
10:45954645 (GRCh37)
Canonical SPDI:: NC_000010.11:45459196:G:C
Gene:: MARCHF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.45459197G>C, NC_000010.10:g.45954645G>C, NW_003315935.1:g.300028G>C, NM_145021.6:c.494C>G, NM_145021.5:c.494C>G, NM_145021.4:c.494C>G, XM_011539492.4:c.1340C>G, XM_011539492.3:c.1340C>G, XM_011539492.2:c.1340C>G, XM_011539492.1:c.1340C>G, NM_001002266.3:c.494C>G, NM_001002266.2:c.494C>G, NM_001002266.1:c.494C>G, NM_001282866.2:c.1340C>G, NM_001282866.1:c.1340C>G, XM_011539495.2:c.494C>G, XM_011539495.1:c.494C>G, XM_047424764.1:c.1340C>G, XM_047424765.1:c.1340C>G, NM_001401645.1:c.1340C>G, NM_001401646.1:c.1340C>G, XM_047424763.1:c.1340C>G, XM_047424769.1:c.494C>G, XM_047424766.1:c.1340C>G, XM_047424768.1:c.494C>G, XM_047424767.1:c.494C>G, NM_001002265.1:c.494C>G, XR_007061947.1:n.2229C>G, NP_659458.2:p.Ala165Gly, XP_011537794.1:p.Ala447Gly, NP_001002266.1:p.Ala165Gly, NP_001269795.1:p.Ala447Gly, XP_011537797.1:p.Ala165Gly, XP_047280720.1:p.Ala447Gly, XP_047280721.1:p.Ala447Gly, NP_001388574.1:p.Ala447Gly, NP_001388575.1:p.Ala447Gly, XP_047280719.1:p.Ala447Gly, XP_047280725.1:p.Ala165Gly, XP_047280722.1:p.Ala447Gly, XP_047280724.1:p.Ala165Gly, XP_047280723.1:p.Ala165Gly

Select item 147406991111.

rs1474069911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:45463339 (GRCh38)
10:45958787 (GRCh37)
Canonical SPDI:: NC_000010.11:45463338:C:T
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.45463339C>T, NC_000010.10:g.45958787C>T, NW_003315935.1:g.304170C>T, XM_011539492.4:c.900G>A, XM_011539492.3:c.900G>A, XM_011539492.2:c.900G>A, XM_011539492.1:c.900G>A, XM_047424764.1:c.900G>A, XM_047424765.1:c.900G>A, NM_001401645.1:c.900G>A, NM_001401646.1:c.900G>A, XM_047424763.1:c.900G>A, NM_001282866.1:c.900G>A, NM_001282866.2:c.900G>A, XM_047424766.1:c.900G>A, XR_007061947.1:n.1651G>A, XP_011537794.1:p.Met300Ile, XP_047280720.1:p.Met300Ile, XP_047280721.1:p.Met300Ile, NP_001388574.1:p.Met300Ile, NP_001388575.1:p.Met300Ile, XP_047280719.1:p.Met300Ile, NP_001269795.1:p.Met300Ile, XP_047280722.1:p.Met300Ile

Select item 147273458412.

rs1472734584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:45463424 (GRCh38)
10:45958872 (GRCh37)
Canonical SPDI:: NC_000010.11:45463423:C:T
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.45463424C>T, NC_000010.10:g.45958872C>T, NW_003315935.1:g.304255C>T, XM_011539492.4:c.815G>A, XM_011539492.3:c.815G>A, XM_011539492.2:c.815G>A, XM_011539492.1:c.815G>A, NM_001282866.2:c.815G>A, NM_001282866.1:c.815G>A, XM_047424764.1:c.815G>A, XM_047424765.1:c.815G>A, NM_001401645.1:c.815G>A, NM_001401646.1:c.815G>A, XM_047424763.1:c.815G>A, XM_047424766.1:c.815G>A, XR_007061947.1:n.1566G>A, XP_011537794.1:p.Ser272Asn, NP_001269795.1:p.Ser272Asn, XP_047280720.1:p.Ser272Asn, XP_047280721.1:p.Ser272Asn, NP_001388574.1:p.Ser272Asn, NP_001388575.1:p.Ser272Asn, XP_047280719.1:p.Ser272Asn, XP_047280722.1:p.Ser272Asn

Select item 147214694713.

rs1472146947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:45463671 (GRCh38)
10:45959119 (GRCh37)
Canonical SPDI:: NC_000010.11:45463670:T:C
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.45463671T>C, NC_000010.10:g.45959119T>C, NW_003315935.1:g.304502T>C, XM_011539492.4:c.568A>G, XM_011539492.3:c.568A>G, XM_011539492.2:c.568A>G, XM_011539492.1:c.568A>G, NM_001282866.2:c.568A>G, NM_001282866.1:c.568A>G, XM_047424764.1:c.568A>G, XM_047424765.1:c.568A>G, NM_001401645.1:c.568A>G, NM_001401646.1:c.568A>G, XM_047424763.1:c.568A>G, XM_047424766.1:c.568A>G, XR_007061947.1:n.1319A>G, XP_011537794.1:p.Thr190Ala, NP_001269795.1:p.Thr190Ala, XP_047280720.1:p.Thr190Ala, XP_047280721.1:p.Thr190Ala, NP_001388574.1:p.Thr190Ala, NP_001388575.1:p.Thr190Ala, XP_047280719.1:p.Thr190Ala, XP_047280722.1:p.Thr190Ala

Select item 147181645814.

rs1471816458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:45463344 (GRCh38)
10:45958792 (GRCh37)
Canonical SPDI:: NC_000010.11:45463343:T:C,NC_000010.11:45463343:T:G
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.45463344T>C, NC_000010.11:g.45463344T>G, NC_000010.10:g.45958792T>C, NC_000010.10:g.45958792T>G, NW_003315935.1:g.304175T>C, NW_003315935.1:g.304175T>G, XM_011539492.4:c.895A>G, XM_011539492.4:c.895A>C, XM_011539492.3:c.895A>G, XM_011539492.3:c.895A>C, XM_011539492.2:c.895A>G, XM_011539492.2:c.895A>C, XM_011539492.1:c.895A>G, XM_011539492.1:c.895A>C, XM_047424764.1:c.895A>G, XM_047424764.1:c.895A>C, XM_047424765.1:c.895A>G, XM_047424765.1:c.895A>C, NM_001401645.1:c.895A>G, NM_001401645.1:c.895A>C, NM_001401646.1:c.895A>G, NM_001401646.1:c.895A>C, XM_047424763.1:c.895A>G, XM_047424763.1:c.895A>C, NM_001282866.1:c.895A>G, NM_001282866.1:c.895A>C, NM_001282866.2:c.895A>G, NM_001282866.2:c.895A>C, XM_047424766.1:c.895A>G, XM_047424766.1:c.895A>C, XR_007061947.1:n.1646A>G, XR_007061947.1:n.1646A>C, XP_011537794.1:p.Ser299Gly, XP_011537794.1:p.Ser299Arg, XP_047280720.1:p.Ser299Gly, XP_047280720.1:p.Ser299Arg, XP_047280721.1:p.Ser299Gly, XP_047280721.1:p.Ser299Arg, NP_001388574.1:p.Ser299Gly, NP_001388574.1:p.Ser299Arg, NP_001388575.1:p.Ser299Gly, NP_001388575.1:p.Ser299Arg, XP_047280719.1:p.Ser299Gly, XP_047280719.1:p.Ser299Arg, NP_001269795.1:p.Ser299Gly, NP_001269795.1:p.Ser299Arg, XP_047280722.1:p.Ser299Gly, XP_047280722.1:p.Ser299Arg

Select item 147125782415.

rs1471257824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:45463340 (GRCh38)
10:45958788 (GRCh37)
Canonical SPDI:: NC_000010.11:45463339:A:G
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.45463340A>G, NC_000010.10:g.45958788A>G, NW_003315935.1:g.304171A>G, XM_011539492.4:c.899T>C, XM_011539492.3:c.899T>C, XM_011539492.2:c.899T>C, XM_011539492.1:c.899T>C, NM_001282866.2:c.899T>C, NM_001282866.1:c.899T>C, XM_047424764.1:c.899T>C, XM_047424765.1:c.899T>C, NM_001401645.1:c.899T>C, NM_001401646.1:c.899T>C, XM_047424763.1:c.899T>C, XM_047424766.1:c.899T>C, XR_007061947.1:n.1650T>C, XP_011537794.1:p.Met300Thr, NP_001269795.1:p.Met300Thr, XP_047280720.1:p.Met300Thr, XP_047280721.1:p.Met300Thr, NP_001388574.1:p.Met300Thr, NP_001388575.1:p.Met300Thr, XP_047280719.1:p.Met300Thr, XP_047280722.1:p.Met300Thr

Select item 147088945916.

rs1470889459 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:45463589 (GRCh38)
10:45959037 (GRCh37)
Canonical SPDI:: NC_000010.11:45463585:ACACA:ACA
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.45463587CA[1], NC_000010.10:g.45959035CA[1], NW_003315935.1:g.304418CA[1], XM_011539492.4:c.652_653del, XM_011539492.3:c.652_653del, XM_011539492.2:c.652_653del, XM_011539492.1:c.652_653del, XM_047424764.1:c.652_653del, XM_047424765.1:c.652_653del, NM_001401645.1:c.652_653del, NM_001401646.1:c.652_653del, XM_047424763.1:c.652_653del, NM_001282866.1:c.652_653del, NM_001282866.2:c.652_653del, XM_047424766.1:c.652_653del, XR_007061947.1:n.1401GT[1], XP_011537794.1:p.Val218fs, XP_047280720.1:p.Val218fs, XP_047280721.1:p.Val218fs, NP_001388574.1:p.Val218fs, NP_001388575.1:p.Val218fs, XP_047280719.1:p.Val218fs, NP_001269795.1:p.Val218fs, XP_047280722.1:p.Val218fs

Select item 146940691617.

rs1469406916 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:45463634 (GRCh38)
10:45959082 (GRCh37)
Canonical SPDI:: NC_000010.11:45463633:T:C
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.45463634T>C, NC_000010.10:g.45959082T>C, NW_003315935.1:g.304465T>C, XM_011539492.4:c.605A>G, XM_011539492.3:c.605A>G, XM_011539492.2:c.605A>G, XM_011539492.1:c.605A>G, NM_001282866.2:c.605A>G, NM_001282866.1:c.605A>G, XM_047424764.1:c.605A>G, XM_047424765.1:c.605A>G, NM_001401645.1:c.605A>G, NM_001401646.1:c.605A>G, XM_047424763.1:c.605A>G, XM_047424766.1:c.605A>G, XR_007061947.1:n.1356A>G, XP_011537794.1:p.Lys202Arg, NP_001269795.1:p.Lys202Arg, XP_047280720.1:p.Lys202Arg, XP_047280721.1:p.Lys202Arg, NP_001388574.1:p.Lys202Arg, NP_001388575.1:p.Lys202Arg, XP_047280719.1:p.Lys202Arg, XP_047280722.1:p.Lys202Arg

Select item 146895369718.

rs1468953697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:45463325 (GRCh38)
10:45958773 (GRCh37)
Canonical SPDI:: NC_000010.11:45463324:T:C
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.45463325T>C, NC_000010.10:g.45958773T>C, NW_003315935.1:g.304156T>C, XM_011539492.4:c.914A>G, XM_011539492.3:c.914A>G, XM_011539492.2:c.914A>G, XM_011539492.1:c.914A>G, XM_047424764.1:c.914A>G, XM_047424765.1:c.914A>G, NM_001401645.1:c.914A>G, NM_001401646.1:c.914A>G, XM_047424763.1:c.914A>G, NM_001282866.1:c.914A>G, NM_001282866.2:c.914A>G, XM_047424766.1:c.914A>G, XR_007061947.1:n.1665A>G, XP_011537794.1:p.Asp305Gly, XP_047280720.1:p.Asp305Gly, XP_047280721.1:p.Asp305Gly, NP_001388574.1:p.Asp305Gly, NP_001388575.1:p.Asp305Gly, XP_047280719.1:p.Asp305Gly, NP_001269795.1:p.Asp305Gly, XP_047280722.1:p.Asp305Gly

Select item 146686893819.

rs1466868938 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>- [Show Flanks]
Chromosome:: 10:45458290 (GRCh38)
10:45953738 (GRCh37)
Canonical SPDI:: NC_000010.11:45458285:AAGAAGA:AAGA
Gene:: MARCHF8 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AAGA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.45458287AGA[1], NC_000010.10:g.45953735AGA[1], NW_003315935.1:g.299118AGA[1], NM_145021.6:c.824CTT[1], NM_145021.5:c.824CTT[1], NM_145021.4:c.824CTT[1], XM_011539492.4:c.1670CTT[1], XM_011539492.3:c.1670CTT[1], XM_011539492.2:c.1670CTT[1], XM_011539492.1:c.1670CTT[1], NM_001002266.3:c.824CTT[1], NM_001002266.2:c.824CTT[1], NM_001002266.1:c.824CTT[1], NM_001282866.2:c.1670CTT[1], NM_001282866.1:c.1670CTT[1], XM_011539495.2:c.824CTT[1], XM_011539495.1:c.824CTT[1], XM_047424764.1:c.1670CTT[1], XM_047424765.1:c.1670CTT[1], NM_001401645.1:c.1670CTT[1], NM_001401646.1:c.1670CTT[1], XM_047424763.1:c.1670CTT[1], XM_047424769.1:c.824CTT[1], XM_047424766.1:c.1670CTT[1], XM_047424768.1:c.824CTT[1], XM_047424767.1:c.824CTT[1], NM_001002265.1:c.824CTT[1], NP_659458.2:p.Ser276del, XP_011537794.1:p.Ser558del, NP_001002266.1:p.Ser276del, NP_001269795.1:p.Ser558del, XP_011537797.1:p.Ser276del, XP_047280720.1:p.Ser558del, XP_047280721.1:p.Ser558del, NP_001388574.1:p.Ser558del, NP_001388575.1:p.Ser558del, XP_047280719.1:p.Ser558del, XP_047280725.1:p.Ser276del, XP_047280722.1:p.Ser558del, XP_047280724.1:p.Ser276del, XP_047280723.1:p.Ser276del

Select item 146525477420.

rs1465254774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:45463499 (GRCh38)
10:45958947 (GRCh37)
Canonical SPDI:: NC_000010.11:45463498:G:A,NC_000010.11:45463498:G:T
Gene:: MARCHF8 (Varview), LOC105378286 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000062/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.001667/1 (NorthernSweden)
HGVS:: NC_000010.11:g.45463499G>A, NC_000010.11:g.45463499G>T, NC_000010.10:g.45958947G>A, NC_000010.10:g.45958947G>T, NW_003315935.1:g.304330G>A, NW_003315935.1:g.304330G>T, XM_011539492.4:c.740C>T, XM_011539492.4:c.740C>A, XM_011539492.3:c.740C>T, XM_011539492.3:c.740C>A, XM_011539492.2:c.740C>T, XM_011539492.2:c.740C>A, XM_011539492.1:c.740C>T, XM_011539492.1:c.740C>A, NM_001282866.2:c.740C>T, NM_001282866.2:c.740C>A, NM_001282866.1:c.740C>T, NM_001282866.1:c.740C>A, XM_047424764.1:c.740C>T, XM_047424764.1:c.740C>A, XM_047424765.1:c.740C>T, XM_047424765.1:c.740C>A, NM_001401645.1:c.740C>T, NM_001401645.1:c.740C>A, NM_001401646.1:c.740C>T, NM_001401646.1:c.740C>A, XM_047424763.1:c.740C>T, XM_047424763.1:c.740C>A, XM_047424766.1:c.740C>T, XM_047424766.1:c.740C>A, XR_007061947.1:n.1491C>T, XR_007061947.1:n.1491C>A, XP_011537794.1:p.Ala247Val, XP_011537794.1:p.Ala247Glu, NP_001269795.1:p.Ala247Val, NP_001269795.1:p.Ala247Glu, XP_047280720.1:p.Ala247Val, XP_047280720.1:p.Ala247Glu, XP_047280721.1:p.Ala247Val, XP_047280721.1:p.Ala247Glu, NP_001388574.1:p.Ala247Val, NP_001388574.1:p.Ala247Glu, NP_001388575.1:p.Ala247Val, NP_001388575.1:p.Ala247Glu, XP_047280719.1:p.Ala247Val, XP_047280719.1:p.Ala247Glu, XP_047280722.1:p.Ala247Val, XP_047280722.1:p.Ala247Glu

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