SNP Links for Protein (Select 767904572) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1220730 (GRCh38)
1:1156110 (GRCh37)
Canonical SPDI:: NC_000001.11:1220729:C:T
Gene:: SDF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.1220730C>T, NC_000001.10:g.1156110C>T, NG_030007.1:g.16338G>A, XM_011541556.2:c.578G>A, XM_011541556.1:c.578G>A, XP_011539858.1:p.Arg193Lys

Select item 140360955616.

rs1403609556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:1223302 (GRCh38)
1:1158682 (GRCh37)
Canonical SPDI:: NC_000001.11:1223301:G:A,NC_000001.11:1223301:G:C,NC_000001.11:1223301:G:T
Gene:: SDF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.1223302G>A, NC_000001.11:g.1223302G>C, NC_000001.11:g.1223302G>T, NC_000001.10:g.1158682G>A, NC_000001.10:g.1158682G>C, NC_000001.10:g.1158682G>T, NG_030007.1:g.13766C>T, NG_030007.1:g.13766C>G, NG_030007.1:g.13766C>A, NM_016176.6:c.498C>T, NM_016176.6:c.498C>G, NM_016176.6:c.498C>A, NM_016176.5:c.519C>T, NM_016176.5:c.519C>G, NM_016176.5:c.519C>A, NM_016176.4:c.519C>T, NM_016176.4:c.519C>G, NM_016176.4:c.519C>A, NM_016176.3:c.519C>T, NM_016176.3:c.519C>G, NM_016176.3:c.519C>A, NM_016547.3:c.498C>T, NM_016547.3:c.498C>G, NM_016547.3:c.498C>A, NM_016547.2:c.519C>T, NM_016547.2:c.519C>G, NM_016547.2:c.519C>A, XM_011541556.2:c.519C>T, XM_011541556.2:c.519C>G, XM_011541556.2:c.519C>A, XM_011541556.1:c.519C>T, XM_011541556.1:c.519C>G, XM_011541556.1:c.519C>A, XM_047422112.1:c.519C>T, XM_047422112.1:c.519C>G, XM_047422112.1:c.519C>A, XM_047422111.1:c.519C>T, XM_047422111.1:c.519C>G, XM_047422111.1:c.519C>A, NP_057260.3:p.Ser166Arg, NP_057260.3:p.Ser166Arg, NP_057631.2:p.Ser166Arg, NP_057631.2:p.Ser166Arg, XP_011539858.1:p.Ser173Arg, XP_011539858.1:p.Ser173Arg, XP_047278068.1:p.Ser173Arg, XP_047278068.1:p.Ser173Arg, XP_047278067.1:p.Ser173Arg, XP_047278067.1:p.Ser173Arg

Select item 140172010517.

rs1401720105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1220722 (GRCh38)
1:1156102 (GRCh37)
Canonical SPDI:: NC_000001.11:1220721:G:A
Gene:: SDF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000001.11:g.1220722G>A, NC_000001.10:g.1156102G>A, NG_030007.1:g.16346C>T, XM_011541556.2:c.586C>T, XM_011541556.1:c.586C>T, XP_011539858.1:p.Pro196Ser

Select item 139836544318.

rs1398365443 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:1228537 (GRCh38)
1:1163917 (GRCh37)
Canonical SPDI:: NC_000001.11:1228536:T:C
Gene:: SDF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.1228537T>C, NC_000001.10:g.1163917T>C, NG_030007.1:g.8531A>G, NM_016176.6:c.236A>G, NM_016176.5:c.257A>G, NM_016176.4:c.257A>G, NM_016176.3:c.257A>G, NM_016547.3:c.236A>G, NM_016547.2:c.257A>G, NG_033265.1:g.1289T>C, XM_011541556.2:c.257A>G, XM_011541556.1:c.257A>G, XM_047422112.1:c.257A>G, XM_047422111.1:c.257A>G, NP_057260.3:p.Asp79Gly, NP_057631.2:p.Asp79Gly, XP_011539858.1:p.Asp86Gly, XP_047278068.1:p.Asp86Gly, XP_047278067.1:p.Asp86Gly

Select item 138846836819.

rs1388468368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1220706 (GRCh38)
1:1156086 (GRCh37)
Canonical SPDI:: NC_000001.11:1220705:G:A
Gene:: SDF4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000039/5 (GnomAD_exomes)
HGVS:: NC_000001.11:g.1220706G>A, NC_000001.10:g.1156086G>A, NG_030007.1:g.16362C>T, XM_011541556.2:c.602C>T, XM_011541556.1:c.602C>T, XP_011539858.1:p.Ala201Val

Select item 138439316220.

rs1384393162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1223936 (GRCh38)
1:1159316 (GRCh37)
Canonical SPDI:: NC_000001.11:1223935:G:A
Gene:: SDF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1223936G>A, NC_000001.10:g.1159316G>A, NG_030007.1:g.13132C>T, NM_016176.6:c.338C>T, NM_016176.5:c.359C>T, NM_016176.4:c.359C>T, NM_016176.3:c.359C>T, NM_016547.3:c.338C>T, NM_016547.2:c.359C>T, XM_011541556.2:c.359C>T, XM_011541556.1:c.359C>T, XM_047422112.1:c.359C>T, XM_047422111.1:c.359C>T, NP_057260.3:p.Ala113Val, NP_057631.2:p.Ala113Val, XP_011539858.1:p.Ala120Val, XP_047278068.1:p.Ala120Val, XP_047278067.1:p.Ala120Val

dbSNP

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