SNP Links for Protein (Select 572872742) - SNP

Links from Protein

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Select item 14888508701.

rs1488850870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:50473935 (GRCh38)
17:48551296 (GRCh37)
Canonical SPDI:: NC_000017.11:50473934:T:G
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50473935T>G, NC_000017.10:g.48551296T>G, NM_025149.6:c.1659T>G, NM_025149.5:c.1659T>G, NM_025149.4:c.1659T>G, XM_011525294.3:c.1641T>G, XM_011525294.2:c.1641T>G, XM_011525294.1:c.1641T>G, NM_001288968.2:c.1734T>G, NM_001288968.1:c.1734T>G, NM_001288969.2:c.1620T>G, NM_001288969.1:c.1620T>G, NM_001288972.2:c.1179T>G, NM_001288972.1:c.1179T>G, NM_001288970.2:c.1530T>G, NM_001288970.1:c.1530T>G, NM_001288971.2:c.1179T>G, NM_001288971.1:c.1179T>G, NR_110232.1:n.396T>G, NP_079425.3:p.Cys553Trp, XP_011523596.1:p.Cys547Trp, NP_001275897.1:p.Cys578Trp, NP_001275898.1:p.Cys540Trp, NP_001275901.1:p.Cys393Trp, NP_001275899.1:p.Cys510Trp, NP_001275900.1:p.Cys393Trp

Select item 14880354992.

rs1488035499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:50462540 (GRCh38)
17:48539901 (GRCh37)
Canonical SPDI:: NC_000017.11:50462539:G:A,NC_000017.11:50462539:G:T
Gene:: ACSF2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.50462540G>A, NC_000017.11:g.50462540G>T, NC_000017.10:g.48539901G>A, NC_000017.10:g.48539901G>T, NM_025149.6:c.747G>A, NM_025149.6:c.747G>T, NM_025149.5:c.747G>A, NM_025149.5:c.747G>T, NM_025149.4:c.747G>A, NM_025149.4:c.747G>T, XM_006722110.5:c.747G>A, XM_006722110.5:c.747G>T, XM_006722110.4:c.747G>A, XM_006722110.4:c.747G>T, XM_006722110.3:c.747G>A, XM_006722110.3:c.747G>T, XM_006722110.2:c.747G>A, XM_006722110.2:c.747G>T, XM_006722110.1:c.747G>A, XM_006722110.1:c.747G>T, XR_934563.4:n.791G>A, XR_934563.4:n.791G>T, XR_934563.3:n.759G>A, XR_934563.3:n.759G>T, XR_934563.2:n.791G>A, XR_934563.2:n.791G>T, XR_934563.1:n.791G>A, XR_934563.1:n.791G>T, XR_934566.4:n.791G>A, XR_934566.4:n.791G>T, XR_934566.3:n.759G>A, XR_934566.3:n.759G>T, XR_934566.2:n.791G>A, XR_934566.2:n.791G>T, XR_934566.1:n.791G>A, XR_934566.1:n.791G>T, XM_011525294.3:c.747G>A, XM_011525294.3:c.747G>T, XM_011525294.2:c.747G>A, XM_011525294.2:c.747G>T, XM_011525294.1:c.747G>A, XM_011525294.1:c.747G>T, NM_001288968.2:c.822G>A, NM_001288968.2:c.822G>T, NM_001288968.1:c.822G>A, NM_001288968.1:c.822G>T, NM_001288969.2:c.708G>A, NM_001288969.2:c.708G>T, NM_001288969.1:c.708G>A, NM_001288969.1:c.708G>T, NM_001288972.2:c.267G>A, NM_001288972.2:c.267G>T, NM_001288972.1:c.267G>A, NM_001288972.1:c.267G>T, NM_001288970.2:c.618G>A, NM_001288970.2:c.618G>T, NM_001288970.1:c.618G>A, NM_001288970.1:c.618G>T, NM_001288971.2:c.267G>A, NM_001288971.2:c.267G>T, NM_001288971.1:c.267G>A, NM_001288971.1:c.267G>T, XR_007065473.1:n.791G>A, XR_007065473.1:n.791G>T, XR_007065474.1:n.791G>A, XR_007065474.1:n.791G>T, NP_079425.3:p.Gln249His, XP_006722173.1:p.Gln249His, XP_011523596.1:p.Gln249His, NP_001275897.1:p.Gln274His, NP_001275898.1:p.Gln236His, NP_001275901.1:p.Gln89His, NP_001275899.1:p.Gln206His, NP_001275900.1:p.Gln89His

Select item 14875812053.

rs1487581205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50461354 (GRCh38)
17:48538715 (GRCh37)
Canonical SPDI:: NC_000017.11:50461353:A:G
Gene:: ACSF2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000017.11:g.50461354A>G, NC_000017.10:g.48538715A>G, NM_025149.6:c.437A>G, NM_025149.5:c.437A>G, NM_025149.4:c.437A>G, XM_006722110.5:c.437A>G, XM_006722110.4:c.437A>G, XM_006722110.3:c.437A>G, XM_006722110.2:c.437A>G, XM_006722110.1:c.437A>G, XR_934563.4:n.481A>G, XR_934563.3:n.449A>G, XR_934563.2:n.481A>G, XR_934563.1:n.481A>G, XR_934566.4:n.481A>G, XR_934566.3:n.449A>G, XR_934566.2:n.481A>G, XR_934566.1:n.481A>G, XM_011525294.3:c.437A>G, XM_011525294.2:c.437A>G, XM_011525294.1:c.437A>G, NM_001288968.2:c.512A>G, NM_001288968.1:c.512A>G, NM_001288969.2:c.437A>G, NM_001288969.1:c.437A>G, XR_007065473.1:n.481A>G, XR_007065474.1:n.481A>G, NP_079425.3:p.Gln146Arg, XP_006722173.1:p.Gln146Arg, XP_011523596.1:p.Gln146Arg, NP_001275897.1:p.Gln171Arg, NP_001275898.1:p.Gln146Arg

Select item 14860655174.

rs1486065517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50426298 (GRCh38)
17:48503659 (GRCh37)
Canonical SPDI:: NC_000017.11:50426297:C:T
Gene:: ACSF2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant
HGVS:: NC_000017.11:g.50426298C>T, NC_000017.10:g.48503659C>T, NM_025149.6:c.37C>T, NM_025149.5:c.37C>T, NM_025149.4:c.37C>T, XM_006722110.5:c.37C>T, XM_006722110.4:c.37C>T, XM_006722110.3:c.37C>T, XM_006722110.2:c.37C>T, XM_006722110.1:c.37C>T, XR_934563.4:n.81C>T, XR_934563.3:n.49C>T, XR_934563.2:n.81C>T, XR_934563.1:n.81C>T, XR_934566.4:n.81C>T, XR_934566.3:n.49C>T, XR_934566.2:n.81C>T, XR_934566.1:n.81C>T, XM_011525294.3:c.37C>T, XM_011525294.2:c.37C>T, XM_011525294.1:c.37C>T, NM_001288968.2:c.37C>T, NM_001288968.1:c.37C>T, NM_001288969.2:c.37C>T, NM_001288969.1:c.37C>T, NM_001288972.2:c.-361C>T, NM_001288972.1:c.-361C>T, NM_001288970.2:c.37C>T, NM_001288970.1:c.37C>T, NM_001288971.2:c.-119C>T, NM_001288971.1:c.-119C>T, XR_007065473.1:n.81C>T, XR_007065474.1:n.81C>T

Select item 14858094665.

rs1485809466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:50464239 (GRCh38)
17:48541600 (GRCh37)
Canonical SPDI:: NC_000017.11:50464238:C:A
Gene:: CHAD (Varview), ACSF2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50464239C>A, NC_000017.10:g.48541600C>A, NM_025149.6:c.1160C>A, NM_025149.5:c.1160C>A, NM_025149.4:c.1160C>A, XM_006722110.5:c.1160C>A, XM_006722110.4:c.1160C>A, XM_006722110.3:c.1160C>A, XM_006722110.2:c.1160C>A, XM_006722110.1:c.1160C>A, XR_934563.4:n.1204C>A, XR_934563.3:n.1172C>A, XR_934563.2:n.1204C>A, XR_934563.1:n.1204C>A, XR_934566.4:n.1112C>A, XR_934566.3:n.1080C>A, XR_934566.2:n.1112C>A, XR_934566.1:n.1112C>A, XM_011525294.3:c.1068C>A, XM_011525294.2:c.1068C>A, XM_011525294.1:c.1068C>A, NM_001288968.2:c.1235C>A, NM_001288968.1:c.1235C>A, NM_001288969.2:c.1121C>A, NM_001288969.1:c.1121C>A, NM_001288972.2:c.680C>A, NM_001288972.1:c.680C>A, NM_001288970.2:c.1031C>A, NM_001288970.1:c.1031C>A, NM_001288971.2:c.680C>A, NM_001288971.1:c.680C>A, XR_007065473.1:n.1204C>A, XR_007065474.1:n.1112C>A, NP_079425.3:p.Ala387Glu, XP_006722173.1:p.Ala387Glu, XP_011523596.1:p.Cys356Ter, NP_001275897.1:p.Ala412Glu, NP_001275898.1:p.Ala374Glu, NP_001275901.1:p.Ala227Glu, NP_001275899.1:p.Ala344Glu, NP_001275900.1:p.Ala227Glu

Select item 14801605796.

rs1480160579 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAC>- [Show Flanks]
Chromosome:: 17:50473750 (GRCh38)
17:48551111 (GRCh37)
Canonical SPDI:: NC_000017.11:50473748:CTAC:C
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50473750_50473752del, NC_000017.10:g.48551111_48551113del, NM_025149.6:c.1561_1563del, NM_025149.5:c.1561_1563del, NM_025149.4:c.1561_1563del, XM_011525294.3:c.1543_1545del, XM_011525294.2:c.1543_1545del, XM_011525294.1:c.1543_1545del, NM_001288968.2:c.1636_1638del, NM_001288968.1:c.1636_1638del, NM_001288969.2:c.1522_1524del, NM_001288969.1:c.1522_1524del, NM_001288972.2:c.1081_1083del, NM_001288972.1:c.1081_1083del, NM_001288970.2:c.1432_1434del, NM_001288970.1:c.1432_1434del, NM_001288971.2:c.1081_1083del, NM_001288971.1:c.1081_1083del, NR_110232.1:n.298_300del, NP_079425.3:p.Tyr521del, XP_011523596.1:p.Tyr515del, NP_001275897.1:p.Tyr546del, NP_001275898.1:p.Tyr508del, NP_001275901.1:p.Tyr361del, NP_001275899.1:p.Tyr478del, NP_001275900.1:p.Tyr361del

Select item 14800869657.

rs1480086965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50463182 (GRCh38)
17:48540543 (GRCh37)
Canonical SPDI:: NC_000017.11:50463181:C:T
Gene:: ACSF2 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50463182C>T, NC_000017.10:g.48540543C>T, NM_025149.6:c.819C>T, NM_025149.5:c.819C>T, NM_025149.4:c.819C>T, XM_006722110.5:c.819C>T, XM_006722110.4:c.819C>T, XM_006722110.3:c.819C>T, XM_006722110.2:c.819C>T, XM_006722110.1:c.819C>T, XR_934563.4:n.863C>T, XR_934563.3:n.831C>T, XR_934563.2:n.863C>T, XR_934563.1:n.863C>T, XR_934566.4:n.863C>T, XR_934566.3:n.831C>T, XR_934566.2:n.863C>T, XR_934566.1:n.863C>T, XM_011525294.3:c.819C>T, XM_011525294.2:c.819C>T, XM_011525294.1:c.819C>T, NM_001288968.2:c.894C>T, NM_001288968.1:c.894C>T, NM_001288969.2:c.780C>T, NM_001288969.1:c.780C>T, NM_001288972.2:c.339C>T, NM_001288972.1:c.339C>T, NM_001288970.2:c.690C>T, NM_001288970.1:c.690C>T, NM_001288971.2:c.339C>T, NM_001288971.1:c.339C>T, XR_007065473.1:n.863C>T, XR_007065474.1:n.863C>T

Select item 14783299538.

rs1478329953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:50463419 (GRCh38)
17:48540780 (GRCh37)
Canonical SPDI:: NC_000017.11:50463418:C:G
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50463419C>G, NC_000017.10:g.48540780C>G, NM_025149.6:c.913C>G, NM_025149.5:c.913C>G, NM_025149.4:c.913C>G, XM_006722110.5:c.913C>G, XM_006722110.4:c.913C>G, XM_006722110.3:c.913C>G, XM_006722110.2:c.913C>G, XM_006722110.1:c.913C>G, XR_934563.4:n.957C>G, XR_934563.3:n.925C>G, XR_934563.2:n.957C>G, XR_934563.1:n.957C>G, XR_934566.4:n.957C>G, XR_934566.3:n.925C>G, XR_934566.2:n.957C>G, XR_934566.1:n.957C>G, XM_011525294.3:c.913C>G, XM_011525294.2:c.913C>G, XM_011525294.1:c.913C>G, NM_001288968.2:c.988C>G, NM_001288968.1:c.988C>G, NM_001288969.2:c.874C>G, NM_001288969.1:c.874C>G, NM_001288972.2:c.433C>G, NM_001288972.1:c.433C>G, NM_001288970.2:c.784C>G, NM_001288970.1:c.784C>G, NM_001288971.2:c.433C>G, NM_001288971.1:c.433C>G, XR_007065473.1:n.957C>G, XR_007065474.1:n.957C>G, NP_079425.3:p.Leu305Val, XP_006722173.1:p.Leu305Val, XP_011523596.1:p.Leu305Val, NP_001275897.1:p.Leu330Val, NP_001275898.1:p.Leu292Val, NP_001275901.1:p.Leu145Val, NP_001275899.1:p.Leu262Val, NP_001275900.1:p.Leu145Val

Select item 14782287869.

rs1478228786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:50462426 (GRCh38)
17:48539787 (GRCh37)
Canonical SPDI:: NC_000017.11:50462425:A:C,NC_000017.11:50462425:A:G
Gene:: ACSF2 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.00126/15 (ALFA)
HGVS:: NC_000017.11:g.50462426A>C, NC_000017.11:g.50462426A>G, NC_000017.10:g.48539787A>C, NC_000017.10:g.48539787A>G, NM_025149.6:c.633A>C, NM_025149.6:c.633A>G, NM_025149.5:c.633A>C, NM_025149.5:c.633A>G, NM_025149.4:c.633A>C, NM_025149.4:c.633A>G, XM_006722110.5:c.633A>C, XM_006722110.5:c.633A>G, XM_006722110.4:c.633A>C, XM_006722110.4:c.633A>G, XM_006722110.3:c.633A>C, XM_006722110.3:c.633A>G, XM_006722110.2:c.633A>C, XM_006722110.2:c.633A>G, XM_006722110.1:c.633A>C, XM_006722110.1:c.633A>G, XR_934563.4:n.677A>C, XR_934563.4:n.677A>G, XR_934563.3:n.645A>C, XR_934563.3:n.645A>G, XR_934563.2:n.677A>C, XR_934563.2:n.677A>G, XR_934563.1:n.677A>C, XR_934563.1:n.677A>G, XR_934566.4:n.677A>C, XR_934566.4:n.677A>G, XR_934566.3:n.645A>C, XR_934566.3:n.645A>G, XR_934566.2:n.677A>C, XR_934566.2:n.677A>G, XR_934566.1:n.677A>C, XR_934566.1:n.677A>G, XM_011525294.3:c.633A>C, XM_011525294.3:c.633A>G, XM_011525294.2:c.633A>C, XM_011525294.2:c.633A>G, XM_011525294.1:c.633A>C, XM_011525294.1:c.633A>G, NM_001288968.2:c.708A>C, NM_001288968.2:c.708A>G, NM_001288968.1:c.708A>C, NM_001288968.1:c.708A>G, NM_001288969.2:c.594A>C, NM_001288969.2:c.594A>G, NM_001288969.1:c.594A>C, NM_001288969.1:c.594A>G, NM_001288972.2:c.153A>C, NM_001288972.2:c.153A>G, NM_001288972.1:c.153A>C, NM_001288972.1:c.153A>G, NM_001288970.2:c.504A>C, NM_001288970.2:c.504A>G, NM_001288970.1:c.504A>C, NM_001288970.1:c.504A>G, NM_001288971.2:c.153A>C, NM_001288971.2:c.153A>G, NM_001288971.1:c.153A>C, NM_001288971.1:c.153A>G, XR_007065473.1:n.677A>C, XR_007065473.1:n.677A>G, XR_007065474.1:n.677A>C, XR_007065474.1:n.677A>G

Select item 147763292710.

rs1477632927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:50460682 (GRCh38)
17:48538043 (GRCh37)
Canonical SPDI:: NC_000017.11:50460681:G:C
Gene:: ACSF2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50460682G>C, NC_000017.10:g.48538043G>C, NM_025149.6:c.134G>C, NM_025149.5:c.134G>C, NM_025149.4:c.134G>C, XM_006722110.5:c.134G>C, XM_006722110.4:c.134G>C, XM_006722110.3:c.134G>C, XM_006722110.2:c.134G>C, XM_006722110.1:c.134G>C, XR_934563.4:n.178G>C, XR_934563.3:n.146G>C, XR_934563.2:n.178G>C, XR_934563.1:n.178G>C, XR_934566.4:n.178G>C, XR_934566.3:n.146G>C, XR_934566.2:n.178G>C, XR_934566.1:n.178G>C, XM_011525294.3:c.134G>C, XM_011525294.2:c.134G>C, XM_011525294.1:c.134G>C, NM_001288968.2:c.209G>C, NM_001288968.1:c.209G>C, NM_001288969.2:c.134G>C, NM_001288969.1:c.134G>C, NM_001288972.2:c.-264G>C, NM_001288972.1:c.-264G>C, NM_001288970.2:c.134G>C, NM_001288970.1:c.134G>C, XR_007065473.1:n.178G>C, XR_007065474.1:n.178G>C, NP_079425.3:p.Arg45Thr, XP_006722173.1:p.Arg45Thr, XP_011523596.1:p.Arg45Thr, NP_001275897.1:p.Arg70Thr, NP_001275898.1:p.Arg45Thr, NP_001275899.1:p.Arg45Thr

Select item 147178764111.

rs1471787641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50471122 (GRCh38)
17:48548483 (GRCh37)
Canonical SPDI:: NC_000017.11:50471121:T:C
Gene:: ACSF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50471122T>C, NC_000017.10:g.48548483T>C, NM_025149.6:c.1310T>C, NM_025149.5:c.1310T>C, NM_025149.4:c.1310T>C, XM_006722110.5:c.1310T>C, XM_006722110.4:c.1310T>C, XM_006722110.3:c.1310T>C, XM_006722110.2:c.1310T>C, XM_006722110.1:c.1310T>C, XR_934563.4:n.1428T>C, XR_934563.3:n.1396T>C, XR_934563.2:n.1428T>C, XR_934563.1:n.1428T>C, XR_934566.4:n.1262T>C, XR_934566.3:n.1230T>C, XR_934566.2:n.1262T>C, XR_934566.1:n.1262T>C, XM_011525294.3:c.1292T>C, XM_011525294.2:c.1292T>C, XM_011525294.1:c.1292T>C, NM_001288968.2:c.1385T>C, NM_001288968.1:c.1385T>C, NM_001288969.2:c.1271T>C, NM_001288969.1:c.1271T>C, NM_001288972.2:c.830T>C, NM_001288972.1:c.830T>C, NM_001288970.2:c.1181T>C, NM_001288970.1:c.1181T>C, NM_001288971.2:c.830T>C, NM_001288971.1:c.830T>C, XR_007065473.1:n.1428T>C, XR_007065474.1:n.1262T>C, NR_110232.1:n.199T>C, NP_079425.3:p.Met437Thr, XP_006722173.1:p.Met437Thr, XP_011523596.1:p.Met431Thr, NP_001275897.1:p.Met462Thr, NP_001275898.1:p.Met424Thr, NP_001275901.1:p.Met277Thr, NP_001275899.1:p.Met394Thr, NP_001275900.1:p.Met277Thr

Select item 146684408912.

rs1466844089 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:50473782 (GRCh38)
17:48551143 (GRCh37)
Canonical SPDI:: NC_000017.11:50473781:A:C,NC_000017.11:50473781:A:T
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (KOREAN)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50473782A>C, NC_000017.11:g.50473782A>T, NC_000017.10:g.48551143A>C, NC_000017.10:g.48551143A>T, NM_025149.6:c.1593A>C, NM_025149.6:c.1593A>T, NM_025149.5:c.1593A>C, NM_025149.5:c.1593A>T, NM_025149.4:c.1593A>C, NM_025149.4:c.1593A>T, XM_011525294.3:c.1575A>C, XM_011525294.3:c.1575A>T, XM_011525294.2:c.1575A>C, XM_011525294.2:c.1575A>T, XM_011525294.1:c.1575A>C, XM_011525294.1:c.1575A>T, NM_001288968.2:c.1668A>C, NM_001288968.2:c.1668A>T, NM_001288968.1:c.1668A>C, NM_001288968.1:c.1668A>T, NM_001288969.2:c.1554A>C, NM_001288969.2:c.1554A>T, NM_001288969.1:c.1554A>C, NM_001288969.1:c.1554A>T, NM_001288972.2:c.1113A>C, NM_001288972.2:c.1113A>T, NM_001288972.1:c.1113A>C, NM_001288972.1:c.1113A>T, NM_001288970.2:c.1464A>C, NM_001288970.2:c.1464A>T, NM_001288970.1:c.1464A>C, NM_001288970.1:c.1464A>T, NM_001288971.2:c.1113A>C, NM_001288971.2:c.1113A>T, NM_001288971.1:c.1113A>C, NM_001288971.1:c.1113A>T, NR_110232.1:n.330A>C, NR_110232.1:n.330A>T

Select item 146605363113.

rs1466053631 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:50463404 (GRCh38)
17:48540765 (GRCh37)
Canonical SPDI:: NC_000017.11:50463403:C:
Gene:: ACSF2 (Varview)
Functional Consequence:: frameshift_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50463404del, NC_000017.10:g.48540765del, NM_025149.6:c.898del, NM_025149.5:c.898del, NM_025149.4:c.898del, XM_006722110.5:c.898del, XM_006722110.4:c.898del, XM_006722110.3:c.898del, XM_006722110.2:c.898del, XM_006722110.1:c.898del, XR_934563.4:n.942del, XR_934563.3:n.910del, XR_934563.2:n.942del, XR_934563.1:n.942del, XR_934566.4:n.942del, XR_934566.3:n.910del, XR_934566.2:n.942del, XR_934566.1:n.942del, XM_011525294.3:c.898del, XM_011525294.2:c.898del, XM_011525294.1:c.898del, NM_001288968.2:c.973del, NM_001288968.1:c.973del, NM_001288969.2:c.859del, NM_001288969.1:c.859del, NM_001288972.2:c.418del, NM_001288972.1:c.418del, NM_001288970.2:c.769del, NM_001288970.1:c.769del, NM_001288971.2:c.418del, NM_001288971.1:c.418del, XR_007065473.1:n.942del, XR_007065474.1:n.942del, NP_079425.3:p.Gln300fs, XP_006722173.1:p.Gln300fs, XP_011523596.1:p.Gln300fs, NP_001275897.1:p.Gln325fs, NP_001275898.1:p.Gln287fs, NP_001275901.1:p.Gln140fs, NP_001275899.1:p.Gln257fs, NP_001275900.1:p.Gln140fs

Select item 146558241914.

rs1465582419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50462437 (GRCh38)
17:48539798 (GRCh37)
Canonical SPDI:: NC_000017.11:50462436:C:T
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50462437C>T, NC_000017.10:g.48539798C>T, NM_025149.6:c.644C>T, NM_025149.5:c.644C>T, NM_025149.4:c.644C>T, XM_006722110.5:c.644C>T, XM_006722110.4:c.644C>T, XM_006722110.3:c.644C>T, XM_006722110.2:c.644C>T, XM_006722110.1:c.644C>T, XR_934563.4:n.688C>T, XR_934563.3:n.656C>T, XR_934563.2:n.688C>T, XR_934563.1:n.688C>T, XR_934566.4:n.688C>T, XR_934566.3:n.656C>T, XR_934566.2:n.688C>T, XR_934566.1:n.688C>T, XM_011525294.3:c.644C>T, XM_011525294.2:c.644C>T, XM_011525294.1:c.644C>T, NM_001288968.2:c.719C>T, NM_001288968.1:c.719C>T, NM_001288969.2:c.605C>T, NM_001288969.1:c.605C>T, NM_001288972.2:c.164C>T, NM_001288972.1:c.164C>T, NM_001288970.2:c.515C>T, NM_001288970.1:c.515C>T, NM_001288971.2:c.164C>T, NM_001288971.1:c.164C>T, XR_007065473.1:n.688C>T, XR_007065474.1:n.688C>T, NP_079425.3:p.Thr215Ile, XP_006722173.1:p.Thr215Ile, XP_011523596.1:p.Thr215Ile, NP_001275897.1:p.Thr240Ile, NP_001275898.1:p.Thr202Ile, NP_001275901.1:p.Thr55Ile, NP_001275899.1:p.Thr172Ile, NP_001275900.1:p.Thr55Ile

Select item 146553347515.

rs1465533475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:50460831 (GRCh38)
17:48538192 (GRCh37)
Canonical SPDI:: NC_000017.11:50460830:C:A
Gene:: ACSF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50460831C>A, NC_000017.10:g.48538192C>A, NM_025149.6:c.283C>A, NM_025149.5:c.283C>A, NM_025149.4:c.283C>A, XM_006722110.5:c.283C>A, XM_006722110.4:c.283C>A, XM_006722110.3:c.283C>A, XM_006722110.2:c.283C>A, XM_006722110.1:c.283C>A, XR_934563.4:n.327C>A, XR_934563.3:n.295C>A, XR_934563.2:n.327C>A, XR_934563.1:n.327C>A, XR_934566.4:n.327C>A, XR_934566.3:n.295C>A, XR_934566.2:n.327C>A, XR_934566.1:n.327C>A, XM_011525294.3:c.283C>A, XM_011525294.2:c.283C>A, XM_011525294.1:c.283C>A, NM_001288968.2:c.358C>A, NM_001288968.1:c.358C>A, NM_001288969.2:c.283C>A, NM_001288969.1:c.283C>A, NM_001288972.2:c.-115C>A, NM_001288972.1:c.-115C>A, NM_001288970.2:c.283C>A, NM_001288970.1:c.283C>A, XR_007065473.1:n.327C>A, XR_007065474.1:n.327C>A, NP_079425.3:p.His95Asn, XP_006722173.1:p.His95Asn, XP_011523596.1:p.His95Asn, NP_001275897.1:p.His120Asn, NP_001275898.1:p.His95Asn, NP_001275899.1:p.His95Asn

Select item 146282655716.

rs1462826557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:50463456 (GRCh38)
17:48540817 (GRCh37)
Canonical SPDI:: NC_000017.11:50463455:C:G
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000017.11:g.50463456C>G, NC_000017.10:g.48540817C>G, NM_025149.6:c.950C>G, NM_025149.5:c.950C>G, NM_025149.4:c.950C>G, XM_006722110.5:c.950C>G, XM_006722110.4:c.950C>G, XM_006722110.3:c.950C>G, XM_006722110.2:c.950C>G, XM_006722110.1:c.950C>G, XR_934563.4:n.994C>G, XR_934563.3:n.962C>G, XR_934563.2:n.994C>G, XR_934563.1:n.994C>G, XR_934566.4:n.994C>G, XR_934566.3:n.962C>G, XR_934566.2:n.994C>G, XR_934566.1:n.994C>G, XM_011525294.3:c.950C>G, XM_011525294.2:c.950C>G, XM_011525294.1:c.950C>G, NM_001288968.2:c.1025C>G, NM_001288968.1:c.1025C>G, NM_001288969.2:c.911C>G, NM_001288969.1:c.911C>G, NM_001288972.2:c.470C>G, NM_001288972.1:c.470C>G, NM_001288970.2:c.821C>G, NM_001288970.1:c.821C>G, NM_001288971.2:c.470C>G, NM_001288971.1:c.470C>G, XR_007065473.1:n.994C>G, XR_007065474.1:n.994C>G, NP_079425.3:p.Ala317Gly, XP_006722173.1:p.Ala317Gly, XP_011523596.1:p.Ala317Gly, NP_001275897.1:p.Ala342Gly, NP_001275898.1:p.Ala304Gly, NP_001275901.1:p.Ala157Gly, NP_001275899.1:p.Ala274Gly, NP_001275900.1:p.Ala157Gly

Select item 146063369317.

rs1460633693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:50474504 (GRCh38)
17:48551865 (GRCh37)
Canonical SPDI:: NC_000017.11:50474503:C:A
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50474504C>A, NC_000017.10:g.48551865C>A, NM_025149.6:c.1800C>A, NM_025149.5:c.1800C>A, NM_025149.4:c.1800C>A, XM_011525294.3:c.1782C>A, XM_011525294.2:c.1782C>A, XM_011525294.1:c.1782C>A, NM_001288968.2:c.1875C>A, NM_001288968.1:c.1875C>A, NM_001288969.2:c.1761C>A, NM_001288969.1:c.1761C>A, NM_001288972.2:c.1320C>A, NM_001288972.1:c.1320C>A, NM_001288970.2:c.1671C>A, NM_001288970.1:c.1671C>A, NM_001288971.2:c.1320C>A, NM_001288971.1:c.1320C>A, NR_110232.1:n.537C>A

Select item 145769360618.

rs1457693606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:50462229 (GRCh38)
17:48539590 (GRCh37)
Canonical SPDI:: NC_000017.11:50462228:C:G
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_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_000017.11:g.50462229C>G, NC_000017.10:g.48539590C>G, NM_025149.6:c.553C>G, NM_025149.5:c.553C>G, NM_025149.4:c.553C>G, XM_006722110.5:c.553C>G, XM_006722110.4:c.553C>G, XM_006722110.3:c.553C>G, XM_006722110.2:c.553C>G, XM_006722110.1:c.553C>G, XR_934563.4:n.597C>G, XR_934563.3:n.565C>G, XR_934563.2:n.597C>G, XR_934563.1:n.597C>G, XR_934566.4:n.597C>G, XR_934566.3:n.565C>G, XR_934566.2:n.597C>G, XR_934566.1:n.597C>G, XM_011525294.3:c.553C>G, XM_011525294.2:c.553C>G, XM_011525294.1:c.553C>G, NM_001288968.2:c.628C>G, NM_001288968.1:c.628C>G, NM_001288969.2:c.514C>G, NM_001288969.1:c.514C>G, NM_001288972.2:c.73C>G, NM_001288972.1:c.73C>G, NM_001288970.2:c.424C>G, NM_001288970.1:c.424C>G, NM_001288971.2:c.73C>G, NM_001288971.1:c.73C>G, XR_007065473.1:n.597C>G, XR_007065474.1:n.597C>G, NP_079425.3:p.Gln185Glu, XP_006722173.1:p.Gln185Glu, XP_011523596.1:p.Gln185Glu, NP_001275897.1:p.Gln210Glu, NP_001275898.1:p.Gln172Glu, NP_001275901.1:p.Gln25Glu, NP_001275899.1:p.Gln142Glu, NP_001275900.1:p.Gln25Glu

Select item 145758301219.

rs1457583012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50472517 (GRCh38)
17:48549878 (GRCh37)
Canonical SPDI:: NC_000017.11:50472516:C:T
Gene:: ACSF2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50472517C>T, NC_000017.10:g.48549878C>T, NM_025149.6:c.1413C>T, NM_025149.5:c.1413C>T, NM_025149.4:c.1413C>T, XM_011525294.3:c.1395C>T, XM_011525294.2:c.1395C>T, XM_011525294.1:c.1395C>T, NM_001288968.2:c.1488C>T, NM_001288968.1:c.1488C>T, NM_001288969.2:c.1374C>T, NM_001288969.1:c.1374C>T, NM_001288972.2:c.933C>T, NM_001288972.1:c.933C>T, NM_001288970.2:c.1284C>T, NM_001288970.1:c.1284C>T, NM_001288971.2:c.933C>T, NM_001288971.1:c.933C>T, XR_007065473.1:n.1531C>T, XR_007065474.1:n.1365C>T

Select item 145598212120.

rs1455982121 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50471063 (GRCh38)
17:48548424 (GRCh37)
Canonical SPDI:: NC_000017.11:50471062:A:G
Gene:: ACSF2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50471063A>G, NC_000017.10:g.48548424A>G, NM_025149.6:c.1251A>G, NM_025149.5:c.1251A>G, NM_025149.4:c.1251A>G, XM_006722110.5:c.1251A>G, XM_006722110.4:c.1251A>G, XM_006722110.3:c.1251A>G, XM_006722110.2:c.1251A>G, XM_006722110.1:c.1251A>G, XR_934563.4:n.1369A>G, XR_934563.3:n.1337A>G, XR_934563.2:n.1369A>G, XR_934563.1:n.1369A>G, XR_934566.4:n.1203A>G, XR_934566.3:n.1171A>G, XR_934566.2:n.1203A>G, XR_934566.1:n.1203A>G, XM_011525294.3:c.1233A>G, XM_011525294.2:c.1233A>G, XM_011525294.1:c.1233A>G, NM_001288968.2:c.1326A>G, NM_001288968.1:c.1326A>G, NM_001288969.2:c.1212A>G, NM_001288969.1:c.1212A>G, NM_001288972.2:c.771A>G, NM_001288972.1:c.771A>G, NM_001288970.2:c.1122A>G, NM_001288970.1:c.1122A>G, NM_001288971.2:c.771A>G, NM_001288971.1:c.771A>G, XR_007065473.1:n.1369A>G, XR_007065474.1:n.1203A>G, NR_110232.1:n.140A>G

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