SNP Links for Protein (Select 578800747) - SNP

Links from Protein

Items: 1 to 20 of 279

<< First< Prev

Page of 14

Next >Last >>

Select item 14896396131.

rs1489639613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:147204986 (GRCh38)
1:146676567 (GRCh37)
Canonical SPDI:: NC_000001.11:147204985:C:G
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_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_000001.11:g.147204986C>G, NW_003871055.3:g.4020399C>G, NG_016732.3:g.99G>C, NG_052905.1:g.36793C>G, NC_000001.10:g.146676567C>G, XM_006711244.5:c.854G>C, XM_006711244.4:c.854G>C, XM_006711244.3:c.854G>C, XM_006711244.2:c.854G>C, XM_006711244.1:c.854G>C, XM_047416285.1:c.854G>C, XM_047416278.1:c.854G>C, XM_047416274.1:c.854G>C, XM_047416292.1:c.665G>C, XP_006711307.1:p.Trp285Ser, XP_047272241.1:p.Trp285Ser, XP_047272234.1:p.Trp285Ser, XP_047272230.1:p.Trp285Ser, XP_047272248.1:p.Trp222Ser

Select item 14786777262.

rs1478677726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:147212459 (GRCh38)
1:146684027 (GRCh37)
Canonical SPDI:: NC_000001.11:147212458:G:A
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.147212459G>A, NW_003871055.3:g.4027872G>A, NG_052905.1:g.44266G>A, NC_000001.10:g.146684027G>A, XM_005272947.6:c.564C>T, XM_005272947.5:c.564C>T, XM_005272947.4:c.564C>T, XM_005272947.3:c.564C>T, XM_005272947.2:c.564C>T, XM_005272947.1:c.564C>T, XM_005272948.6:c.564C>T, XM_005272948.5:c.564C>T, XM_005272948.4:c.564C>T, XM_005272948.3:c.564C>T, XM_005272948.2:c.564C>T, XM_005272948.1:c.564C>T, XM_005272946.6:c.564C>T, XM_005272946.5:c.564C>T, XM_005272946.4:c.564C>T, XM_005272946.3:c.564C>T, XM_005272946.2:c.564C>T, XM_005272946.1:c.564C>T, XM_006711244.5:c.564C>T, XM_006711244.4:c.564C>T, XM_006711244.3:c.564C>T, XM_006711244.2:c.564C>T, XM_006711244.1:c.564C>T, XM_011509350.4:c.564C>T, XM_011509350.3:c.564C>T, XM_011509350.2:c.564C>T, XM_011509350.1:c.564C>T, NM_001461.4:c.564C>T, NM_001461.3:c.564C>T, XM_011509351.4:c.375C>T, XM_011509351.3:c.375C>T, XM_011509351.2:c.375C>T, XM_011509351.1:c.375C>T, NM_001144830.3:c.564C>T, NM_001144830.2:c.564C>T, XM_017000801.3:c.375C>T, XM_017000801.2:c.375C>T, XM_017000801.1:c.375C>T, XM_017000802.3:c.375C>T, XM_017000802.2:c.375C>T, XM_017000802.1:c.375C>T, NM_001144829.3:c.564C>T, NM_001144829.2:c.564C>T, XM_047416285.1:c.564C>T, XM_047416278.1:c.564C>T, XM_047416274.1:c.564C>T, XM_047416292.1:c.375C>T, XM_047416250.1:c.375C>T

Select item 14768118333.

rs1476811833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:147212481 (GRCh38)
1:146684049 (GRCh37)
Canonical SPDI:: NC_000001.11:147212480:T:G
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.147212481T>G, NW_003871055.3:g.4027894T>G, NG_052905.1:g.44288T>G, NC_000001.10:g.146684049T>G, XM_005272947.6:c.542A>C, XM_005272947.5:c.542A>C, XM_005272947.4:c.542A>C, XM_005272947.3:c.542A>C, XM_005272947.2:c.542A>C, XM_005272947.1:c.542A>C, XM_005272948.6:c.542A>C, XM_005272948.5:c.542A>C, XM_005272948.4:c.542A>C, XM_005272948.3:c.542A>C, XM_005272948.2:c.542A>C, XM_005272948.1:c.542A>C, XM_005272946.6:c.542A>C, XM_005272946.5:c.542A>C, XM_005272946.4:c.542A>C, XM_005272946.3:c.542A>C, XM_005272946.2:c.542A>C, XM_005272946.1:c.542A>C, XM_006711244.5:c.542A>C, XM_006711244.4:c.542A>C, XM_006711244.3:c.542A>C, XM_006711244.2:c.542A>C, XM_006711244.1:c.542A>C, XM_011509350.4:c.542A>C, XM_011509350.3:c.542A>C, XM_011509350.2:c.542A>C, XM_011509350.1:c.542A>C, NM_001461.4:c.542A>C, NM_001461.3:c.542A>C, XM_011509351.4:c.353A>C, XM_011509351.3:c.353A>C, XM_011509351.2:c.353A>C, XM_011509351.1:c.353A>C, NM_001144830.3:c.542A>C, NM_001144830.2:c.542A>C, XM_017000801.3:c.353A>C, XM_017000801.2:c.353A>C, XM_017000801.1:c.353A>C, XM_017000802.3:c.353A>C, XM_017000802.2:c.353A>C, XM_017000802.1:c.353A>C, NM_001144829.3:c.542A>C, NM_001144829.2:c.542A>C, XM_047416285.1:c.542A>C, XM_047416278.1:c.542A>C, XM_047416274.1:c.542A>C, XM_047416292.1:c.353A>C, XM_047416250.1:c.353A>C, XP_005273004.1:p.Glu181Ala, XP_005273005.1:p.Glu181Ala, XP_005273003.1:p.Glu181Ala, XP_006711307.1:p.Glu181Ala, XP_011507652.1:p.Glu181Ala, NP_001452.2:p.Glu181Ala, XP_011507653.1:p.Glu118Ala, NP_001138302.1:p.Glu181Ala, XP_016856290.1:p.Glu118Ala, XP_016856291.1:p.Glu118Ala, NP_001138301.1:p.Glu181Ala, XP_047272241.1:p.Glu181Ala, XP_047272234.1:p.Glu181Ala, XP_047272230.1:p.Glu181Ala, XP_047272248.1:p.Glu118Ala, XP_047272206.1:p.Glu118Ala

Select item 14724745914.

rs1472474591 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:147204907 (GRCh38)
1:146676488 (GRCh37)
Canonical SPDI:: NC_000001.11:147204906:G:A
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.147204907G>A, NW_003871055.3:g.4020320G>A, NG_016732.3:g.178C>T, NG_052905.1:g.36714G>A, NC_000001.10:g.146676488G>A, XM_006711244.5:c.933C>T, XM_006711244.4:c.933C>T, XM_006711244.3:c.933C>T, XM_006711244.2:c.933C>T, XM_006711244.1:c.933C>T, XM_047416285.1:c.933C>T, XM_047416278.1:c.933C>T, XM_047416274.1:c.933C>T, XM_047416292.1:c.744C>T

Select item 14669051365.

rs1466905136 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:147212533 (GRCh38)
1:146684101 (GRCh37)
Canonical SPDI:: NC_000001.11:147212532:T:C
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.147212533T>C, NW_003871055.3:g.4027946T>C, NG_052905.1:g.44340T>C, NC_000001.10:g.146684101T>C, XM_005272947.6:c.490A>G, XM_005272947.5:c.490A>G, XM_005272947.4:c.490A>G, XM_005272947.3:c.490A>G, XM_005272947.2:c.490A>G, XM_005272947.1:c.490A>G, XM_005272948.6:c.490A>G, XM_005272948.5:c.490A>G, XM_005272948.4:c.490A>G, XM_005272948.3:c.490A>G, XM_005272948.2:c.490A>G, XM_005272948.1:c.490A>G, XM_005272946.6:c.490A>G, XM_005272946.5:c.490A>G, XM_005272946.4:c.490A>G, XM_005272946.3:c.490A>G, XM_005272946.2:c.490A>G, XM_005272946.1:c.490A>G, XM_006711244.5:c.490A>G, XM_006711244.4:c.490A>G, XM_006711244.3:c.490A>G, XM_006711244.2:c.490A>G, XM_006711244.1:c.490A>G, XM_011509350.4:c.490A>G, XM_011509350.3:c.490A>G, XM_011509350.2:c.490A>G, XM_011509350.1:c.490A>G, NM_001461.4:c.490A>G, NM_001461.3:c.490A>G, XM_011509351.4:c.301A>G, XM_011509351.3:c.301A>G, XM_011509351.2:c.301A>G, XM_011509351.1:c.301A>G, NM_001144830.3:c.490A>G, NM_001144830.2:c.490A>G, XM_017000801.3:c.301A>G, XM_017000801.2:c.301A>G, XM_017000801.1:c.301A>G, XM_017000802.3:c.301A>G, XM_017000802.2:c.301A>G, XM_017000802.1:c.301A>G, NM_001144829.3:c.490A>G, NM_001144829.2:c.490A>G, XM_047416285.1:c.490A>G, XM_047416278.1:c.490A>G, XM_047416274.1:c.490A>G, XM_047416292.1:c.301A>G, XM_047416250.1:c.301A>G, XP_005273004.1:p.Ile164Val, XP_005273005.1:p.Ile164Val, XP_005273003.1:p.Ile164Val, XP_006711307.1:p.Ile164Val, XP_011507652.1:p.Ile164Val, NP_001452.2:p.Ile164Val, XP_011507653.1:p.Ile101Val, NP_001138302.1:p.Ile164Val, XP_016856290.1:p.Ile101Val, XP_016856291.1:p.Ile101Val, NP_001138301.1:p.Ile164Val, XP_047272241.1:p.Ile164Val, XP_047272234.1:p.Ile164Val, XP_047272230.1:p.Ile164Val, XP_047272248.1:p.Ile101Val, XP_047272206.1:p.Ile101Val

Select item 14638526206.

rs1463852620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:147215905 (GRCh38)
1:146687475 (GRCh37)
Canonical SPDI:: NC_000001.11:147215904:G:A
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.147215905G>A, NW_003871055.3:g.4031318G>A, NG_052905.1:g.47712G>A, NC_000001.10:g.146687475G>A, XM_005272947.6:c.173C>T, XM_005272947.5:c.173C>T, XM_005272947.4:c.173C>T, XM_005272947.3:c.173C>T, XM_005272947.2:c.173C>T, XM_005272947.1:c.173C>T, XM_005272948.6:c.173C>T, XM_005272948.5:c.173C>T, XM_005272948.4:c.173C>T, XM_005272948.3:c.173C>T, XM_005272948.2:c.173C>T, XM_005272948.1:c.173C>T, XM_005272946.6:c.173C>T, XM_005272946.5:c.173C>T, XM_005272946.4:c.173C>T, XM_005272946.3:c.173C>T, XM_005272946.2:c.173C>T, XM_005272946.1:c.173C>T, XM_006711244.5:c.173C>T, XM_006711244.4:c.173C>T, XM_006711244.3:c.173C>T, XM_006711244.2:c.173C>T, XM_006711244.1:c.173C>T, XM_011509350.4:c.173C>T, XM_011509350.3:c.173C>T, XM_011509350.2:c.173C>T, XM_011509350.1:c.173C>T, NM_001461.4:c.173C>T, NM_001461.3:c.173C>T, NM_001144830.3:c.173C>T, NM_001144830.2:c.173C>T, NM_001144829.3:c.173C>T, NM_001144829.2:c.173C>T, XM_047416285.1:c.173C>T, XM_047416278.1:c.173C>T, XM_047416274.1:c.173C>T, XP_005273004.1:p.Ser58Leu, XP_005273005.1:p.Ser58Leu, XP_005273003.1:p.Ser58Leu, XP_006711307.1:p.Ser58Leu, XP_011507652.1:p.Ser58Leu, NP_001452.2:p.Ser58Leu, NP_001138302.1:p.Ser58Leu, NP_001138301.1:p.Ser58Leu, XP_047272241.1:p.Ser58Leu, XP_047272234.1:p.Ser58Leu, XP_047272230.1:p.Ser58Leu

Select item 14565612247.

rs1456561224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:147215853 (GRCh38)
1:146687423 (GRCh37)
Canonical SPDI:: NC_000001.11:147215852:G:T
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.147215853G>T, NW_003871055.3:g.4031266G>T, NG_052905.1:g.47660G>T, NC_000001.10:g.146687423G>T, XM_005272947.6:c.225C>A, XM_005272947.5:c.225C>A, XM_005272947.4:c.225C>A, XM_005272947.3:c.225C>A, XM_005272947.2:c.225C>A, XM_005272947.1:c.225C>A, XM_005272948.6:c.225C>A, XM_005272948.5:c.225C>A, XM_005272948.4:c.225C>A, XM_005272948.3:c.225C>A, XM_005272948.2:c.225C>A, XM_005272948.1:c.225C>A, XM_005272946.6:c.225C>A, XM_005272946.5:c.225C>A, XM_005272946.4:c.225C>A, XM_005272946.3:c.225C>A, XM_005272946.2:c.225C>A, XM_005272946.1:c.225C>A, XM_006711244.5:c.225C>A, XM_006711244.4:c.225C>A, XM_006711244.3:c.225C>A, XM_006711244.2:c.225C>A, XM_006711244.1:c.225C>A, XM_011509350.4:c.225C>A, XM_011509350.3:c.225C>A, XM_011509350.2:c.225C>A, XM_011509350.1:c.225C>A, NM_001461.4:c.225C>A, NM_001461.3:c.225C>A, NM_001144830.3:c.225C>A, NM_001144830.2:c.225C>A, NM_001144829.3:c.225C>A, NM_001144829.2:c.225C>A, XM_047416285.1:c.225C>A, XM_047416278.1:c.225C>A, XM_047416274.1:c.225C>A

Select item 14562772398.

rs1456277239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:147224924 (GRCh38)
1:146696516 (GRCh37)
Canonical SPDI:: NC_000001.11:147224923:C:A,NC_000001.11:147224923:C:T
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000033/4 (ExAC)
A=0.000044/11 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.147224924C>A, NC_000001.11:g.147224924C>T, NW_003871055.3:g.4040337C>A, NW_003871055.3:g.4040337C>T, NG_052905.1:g.56731C>A, NG_052905.1:g.56731C>T, NC_000001.10:g.146696516C>A, NC_000001.10:g.146696516C>T, XM_005272947.6:c.106G>T, XM_005272947.6:c.106G>A, XM_005272947.5:c.106G>T, XM_005272947.5:c.106G>A, XM_005272947.4:c.106G>T, XM_005272947.4:c.106G>A, XM_005272947.3:c.106G>T, XM_005272947.3:c.106G>A, XM_005272947.2:c.106G>T, XM_005272947.2:c.106G>A, XM_005272947.1:c.106G>T, XM_005272947.1:c.106G>A, XM_005272948.6:c.106G>T, XM_005272948.6:c.106G>A, XM_005272948.5:c.106G>T, XM_005272948.5:c.106G>A, XM_005272948.4:c.106G>T, XM_005272948.4:c.106G>A, XM_005272948.3:c.106G>T, XM_005272948.3:c.106G>A, XM_005272948.2:c.106G>T, XM_005272948.2:c.106G>A, XM_005272948.1:c.106G>T, XM_005272948.1:c.106G>A, XM_005272946.6:c.106G>T, XM_005272946.6:c.106G>A, XM_005272946.5:c.106G>T, XM_005272946.5:c.106G>A, XM_005272946.4:c.106G>T, XM_005272946.4:c.106G>A, XM_005272946.3:c.106G>T, XM_005272946.3:c.106G>A, XM_005272946.2:c.106G>T, XM_005272946.2:c.106G>A, XM_005272946.1:c.106G>T, XM_005272946.1:c.106G>A, XM_006711244.5:c.106G>T, XM_006711244.5:c.106G>A, XM_006711244.4:c.106G>T, XM_006711244.4:c.106G>A, XM_006711244.3:c.106G>T, XM_006711244.3:c.106G>A, XM_006711244.2:c.106G>T, XM_006711244.2:c.106G>A, XM_006711244.1:c.106G>T, XM_006711244.1:c.106G>A, XM_011509350.4:c.106G>T, XM_011509350.4:c.106G>A, XM_011509350.3:c.106G>T, XM_011509350.3:c.106G>A, XM_011509350.2:c.106G>T, XM_011509350.2:c.106G>A, XM_011509350.1:c.106G>T, XM_011509350.1:c.106G>A, NM_001461.4:c.106G>T, NM_001461.4:c.106G>A, NM_001461.3:c.106G>T, NM_001461.3:c.106G>A, XM_011509351.4:c.106G>T, XM_011509351.4:c.106G>A, XM_011509351.3:c.106G>T, XM_011509351.3:c.106G>A, XM_011509351.2:c.106G>T, XM_011509351.2:c.106G>A, XM_011509351.1:c.106G>T, XM_011509351.1:c.106G>A, NM_001144830.3:c.106G>T, NM_001144830.3:c.106G>A, NM_001144830.2:c.106G>T, NM_001144830.2:c.106G>A, XM_017000801.3:c.106G>T, XM_017000801.3:c.106G>A, XM_017000801.2:c.106G>T, XM_017000801.2:c.106G>A, XM_017000801.1:c.106G>T, XM_017000801.1:c.106G>A, XM_017000802.3:c.106G>T, XM_017000802.3:c.106G>A, XM_017000802.2:c.106G>T, XM_017000802.2:c.106G>A, XM_017000802.1:c.106G>T, XM_017000802.1:c.106G>A, NM_001144829.3:c.106G>T, NM_001144829.3:c.106G>A, NM_001144829.2:c.106G>T, NM_001144829.2:c.106G>A, XM_047416285.1:c.106G>T, XM_047416285.1:c.106G>A, XM_047416278.1:c.106G>T, XM_047416278.1:c.106G>A, XM_047416274.1:c.106G>T, XM_047416274.1:c.106G>A, XM_047416292.1:c.106G>T, XM_047416292.1:c.106G>A, XM_047416250.1:c.106G>T, XM_047416250.1:c.106G>A, XP_005273004.1:p.Asp36Tyr, XP_005273004.1:p.Asp36Asn, XP_005273005.1:p.Asp36Tyr, XP_005273005.1:p.Asp36Asn, XP_005273003.1:p.Asp36Tyr, XP_005273003.1:p.Asp36Asn, XP_006711307.1:p.Asp36Tyr, XP_006711307.1:p.Asp36Asn, XP_011507652.1:p.Asp36Tyr, XP_011507652.1:p.Asp36Asn, NP_001452.2:p.Asp36Tyr, NP_001452.2:p.Asp36Asn, XP_011507653.1:p.Asp36Tyr, XP_011507653.1:p.Asp36Asn, NP_001138302.1:p.Asp36Tyr, NP_001138302.1:p.Asp36Asn, XP_016856290.1:p.Asp36Tyr, XP_016856290.1:p.Asp36Asn, XP_016856291.1:p.Asp36Tyr, XP_016856291.1:p.Asp36Asn, NP_001138301.1:p.Asp36Tyr, NP_001138301.1:p.Asp36Asn, XP_047272241.1:p.Asp36Tyr, XP_047272241.1:p.Asp36Asn, XP_047272234.1:p.Asp36Tyr, XP_047272234.1:p.Asp36Asn, XP_047272230.1:p.Asp36Tyr, XP_047272230.1:p.Asp36Asn, XP_047272248.1:p.Asp36Tyr, XP_047272248.1:p.Asp36Asn, XP_047272206.1:p.Asp36Tyr, XP_047272206.1:p.Asp36Asn

Select item 14511902249.

rs1451190224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:147212495 (GRCh38)
1:146684063 (GRCh37)
Canonical SPDI:: NC_000001.11:147212494:G:C
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000021/3 (GnomAD)
C=0.00006/16 (TOPMED)
HGVS:: NC_000001.11:g.147212495G>C, NW_003871055.3:g.4027908G>C, NG_052905.1:g.44302G>C, NC_000001.10:g.146684063G>C, XM_005272947.6:c.528C>G, XM_005272947.5:c.528C>G, XM_005272947.4:c.528C>G, XM_005272947.3:c.528C>G, XM_005272947.2:c.528C>G, XM_005272947.1:c.528C>G, XM_005272948.6:c.528C>G, XM_005272948.5:c.528C>G, XM_005272948.4:c.528C>G, XM_005272948.3:c.528C>G, XM_005272948.2:c.528C>G, XM_005272948.1:c.528C>G, XM_005272946.6:c.528C>G, XM_005272946.5:c.528C>G, XM_005272946.4:c.528C>G, XM_005272946.3:c.528C>G, XM_005272946.2:c.528C>G, XM_005272946.1:c.528C>G, XM_006711244.5:c.528C>G, XM_006711244.4:c.528C>G, XM_006711244.3:c.528C>G, XM_006711244.2:c.528C>G, XM_006711244.1:c.528C>G, XM_011509350.4:c.528C>G, XM_011509350.3:c.528C>G, XM_011509350.2:c.528C>G, XM_011509350.1:c.528C>G, NM_001461.4:c.528C>G, NM_001461.3:c.528C>G, XM_011509351.4:c.339C>G, XM_011509351.3:c.339C>G, XM_011509351.2:c.339C>G, XM_011509351.1:c.339C>G, NM_001144830.3:c.528C>G, NM_001144830.2:c.528C>G, XM_017000801.3:c.339C>G, XM_017000801.2:c.339C>G, XM_017000801.1:c.339C>G, XM_017000802.3:c.339C>G, XM_017000802.2:c.339C>G, XM_017000802.1:c.339C>G, NM_001144829.3:c.528C>G, NM_001144829.2:c.528C>G, XM_047416285.1:c.528C>G, XM_047416278.1:c.528C>G, XM_047416274.1:c.528C>G, XM_047416292.1:c.339C>G, XM_047416250.1:c.339C>G, XP_005273004.1:p.Asp176Glu, XP_005273005.1:p.Asp176Glu, XP_005273003.1:p.Asp176Glu, XP_006711307.1:p.Asp176Glu, XP_011507652.1:p.Asp176Glu, NP_001452.2:p.Asp176Glu, XP_011507653.1:p.Asp113Glu, NP_001138302.1:p.Asp176Glu, XP_016856290.1:p.Asp113Glu, XP_016856291.1:p.Asp113Glu, NP_001138301.1:p.Asp176Glu, XP_047272241.1:p.Asp176Glu, XP_047272234.1:p.Asp176Glu, XP_047272230.1:p.Asp176Glu, XP_047272248.1:p.Asp113Glu, XP_047272206.1:p.Asp113Glu

Select item 144896544010.

rs1448965440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:147215887 (GRCh38)
1:146687457 (GRCh37)
Canonical SPDI:: NC_000001.11:147215886:G:C
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.147215887G>C, NW_003871055.3:g.4031300G>C, NG_052905.1:g.47694G>C, NC_000001.10:g.146687457G>C, XM_005272947.6:c.191C>G, XM_005272947.5:c.191C>G, XM_005272947.4:c.191C>G, XM_005272947.3:c.191C>G, XM_005272947.2:c.191C>G, XM_005272947.1:c.191C>G, XM_005272948.6:c.191C>G, XM_005272948.5:c.191C>G, XM_005272948.4:c.191C>G, XM_005272948.3:c.191C>G, XM_005272948.2:c.191C>G, XM_005272948.1:c.191C>G, XM_005272946.6:c.191C>G, XM_005272946.5:c.191C>G, XM_005272946.4:c.191C>G, XM_005272946.3:c.191C>G, XM_005272946.2:c.191C>G, XM_005272946.1:c.191C>G, XM_006711244.5:c.191C>G, XM_006711244.4:c.191C>G, XM_006711244.3:c.191C>G, XM_006711244.2:c.191C>G, XM_006711244.1:c.191C>G, XM_011509350.4:c.191C>G, XM_011509350.3:c.191C>G, XM_011509350.2:c.191C>G, XM_011509350.1:c.191C>G, NM_001461.4:c.191C>G, NM_001461.3:c.191C>G, NM_001144830.3:c.191C>G, NM_001144830.2:c.191C>G, NM_001144829.3:c.191C>G, NM_001144829.2:c.191C>G, XM_047416285.1:c.191C>G, XM_047416278.1:c.191C>G, XM_047416274.1:c.191C>G, XP_005273004.1:p.Ser64Cys, XP_005273005.1:p.Ser64Cys, XP_005273003.1:p.Ser64Cys, XP_006711307.1:p.Ser64Cys, XP_011507652.1:p.Ser64Cys, NP_001452.2:p.Ser64Cys, NP_001138302.1:p.Ser64Cys, NP_001138301.1:p.Ser64Cys, XP_047272241.1:p.Ser64Cys, XP_047272234.1:p.Ser64Cys, XP_047272230.1:p.Ser64Cys

Select item 144896496011.

rs1448964960 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:147224946 (GRCh38)
1:146696538 (GRCh37)
Canonical SPDI:: NC_000001.11:147224945:TT:T
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.147224947del, NW_003871055.3:g.4040360del, NG_052905.1:g.56754del, NC_000001.10:g.146696539del, XM_005272947.6:c.84del, XM_005272947.5:c.84del, XM_005272947.4:c.84del, XM_005272947.3:c.84del, XM_005272947.2:c.84del, XM_005272947.1:c.84del, XM_005272948.6:c.84del, XM_005272948.5:c.84del, XM_005272948.4:c.84del, XM_005272948.3:c.84del, XM_005272948.2:c.84del, XM_005272948.1:c.84del, XM_005272946.6:c.84del, XM_005272946.5:c.84del, XM_005272946.4:c.84del, XM_005272946.3:c.84del, XM_005272946.2:c.84del, XM_005272946.1:c.84del, XM_006711244.5:c.84del, XM_006711244.4:c.84del, XM_006711244.3:c.84del, XM_006711244.2:c.84del, XM_006711244.1:c.84del, XM_011509350.4:c.84del, XM_011509350.3:c.84del, XM_011509350.2:c.84del, XM_011509350.1:c.84del, NM_001461.4:c.84del, NM_001461.3:c.84del, XM_011509351.4:c.84del, XM_011509351.3:c.84del, XM_011509351.2:c.84del, XM_011509351.1:c.84del, NM_001144830.3:c.84del, NM_001144830.2:c.84del, XM_017000801.3:c.84del, XM_017000801.2:c.84del, XM_017000801.1:c.84del, XM_017000802.3:c.84del, XM_017000802.2:c.84del, XM_017000802.1:c.84del, NM_001144829.3:c.84del, NM_001144829.2:c.84del, XM_047416285.1:c.84del, XM_047416278.1:c.84del, XM_047416274.1:c.84del, XM_047416292.1:c.84del, XM_047416250.1:c.84del, XP_005273004.1:p.Glu28fs, XP_005273005.1:p.Glu28fs, XP_005273003.1:p.Glu28fs, XP_006711307.1:p.Glu28fs, XP_011507652.1:p.Glu28fs, NP_001452.2:p.Glu28fs, XP_011507653.1:p.Glu28fs, NP_001138302.1:p.Glu28fs, XP_016856290.1:p.Glu28fs, XP_016856291.1:p.Glu28fs, NP_001138301.1:p.Glu28fs, XP_047272241.1:p.Glu28fs, XP_047272234.1:p.Glu28fs, XP_047272230.1:p.Glu28fs, XP_047272248.1:p.Glu28fs, XP_047272206.1:p.Glu28fs

Select item 144269987512.

rs1442699875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:147224915 (GRCh38)
1:146696507 (GRCh37)
Canonical SPDI:: NC_000001.11:147224914:C:T
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_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_000001.11:g.147224915C>T, NW_003871055.3:g.4040328C>T, NG_052905.1:g.56722C>T, NC_000001.10:g.146696507C>T, XM_005272947.6:c.115G>A, XM_005272947.5:c.115G>A, XM_005272947.4:c.115G>A, XM_005272947.3:c.115G>A, XM_005272947.2:c.115G>A, XM_005272947.1:c.115G>A, XM_005272948.6:c.115G>A, XM_005272948.5:c.115G>A, XM_005272948.4:c.115G>A, XM_005272948.3:c.115G>A, XM_005272948.2:c.115G>A, XM_005272948.1:c.115G>A, XM_005272946.6:c.115G>A, XM_005272946.5:c.115G>A, XM_005272946.4:c.115G>A, XM_005272946.3:c.115G>A, XM_005272946.2:c.115G>A, XM_005272946.1:c.115G>A, XM_006711244.5:c.115G>A, XM_006711244.4:c.115G>A, XM_006711244.3:c.115G>A, XM_006711244.2:c.115G>A, XM_006711244.1:c.115G>A, XM_011509350.4:c.115G>A, XM_011509350.3:c.115G>A, XM_011509350.2:c.115G>A, XM_011509350.1:c.115G>A, NM_001461.4:c.115G>A, NM_001461.3:c.115G>A, XM_011509351.4:c.115G>A, XM_011509351.3:c.115G>A, XM_011509351.2:c.115G>A, XM_011509351.1:c.115G>A, NM_001144830.3:c.115G>A, NM_001144830.2:c.115G>A, XM_017000801.3:c.115G>A, XM_017000801.2:c.115G>A, XM_017000801.1:c.115G>A, XM_017000802.3:c.115G>A, XM_017000802.2:c.115G>A, XM_017000802.1:c.115G>A, NM_001144829.3:c.115G>A, NM_001144829.2:c.115G>A, XM_047416285.1:c.115G>A, XM_047416278.1:c.115G>A, XM_047416274.1:c.115G>A, XM_047416292.1:c.115G>A, XM_047416250.1:c.115G>A, XP_005273004.1:p.Gly39Arg, XP_005273005.1:p.Gly39Arg, XP_005273003.1:p.Gly39Arg, XP_006711307.1:p.Gly39Arg, XP_011507652.1:p.Gly39Arg, NP_001452.2:p.Gly39Arg, XP_011507653.1:p.Gly39Arg, NP_001138302.1:p.Gly39Arg, XP_016856290.1:p.Gly39Arg, XP_016856291.1:p.Gly39Arg, NP_001138301.1:p.Gly39Arg, XP_047272241.1:p.Gly39Arg, XP_047272234.1:p.Gly39Arg, XP_047272230.1:p.Gly39Arg, XP_047272248.1:p.Gly39Arg, XP_047272206.1:p.Gly39Arg

Select item 142907908213.

rs1429079082 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTTAGT>- [Show Flanks]
Chromosome:: 1:147225020 (GRCh38)
1:146696612 (GRCh37)
Canonical SPDI:: NC_000001.11:147225018:TTCTTAGT:T
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.147225020_147225026del, NW_003871055.3:g.4040433_4040439del, NG_052905.1:g.56827_56833del, NC_000001.10:g.146696612_146696618del, XM_005272947.6:c.5_11del, XM_005272947.5:c.5_11del, XM_005272947.4:c.5_11del, XM_005272947.3:c.5_11del, XM_005272947.2:c.5_11del, XM_005272947.1:c.5_11del, XM_005272948.6:c.5_11del, XM_005272948.5:c.5_11del, XM_005272948.4:c.5_11del, XM_005272948.3:c.5_11del, XM_005272948.2:c.5_11del, XM_005272948.1:c.5_11del, XM_005272946.6:c.5_11del, XM_005272946.5:c.5_11del, XM_005272946.4:c.5_11del, XM_005272946.3:c.5_11del, XM_005272946.2:c.5_11del, XM_005272946.1:c.5_11del, XM_006711244.5:c.5_11del, XM_006711244.4:c.5_11del, XM_006711244.3:c.5_11del, XM_006711244.2:c.5_11del, XM_006711244.1:c.5_11del, XM_011509350.4:c.5_11del, XM_011509350.3:c.5_11del, XM_011509350.2:c.5_11del, XM_011509350.1:c.5_11del, NM_001461.4:c.5_11del, NM_001461.3:c.5_11del, XM_011509351.4:c.5_11del, XM_011509351.3:c.5_11del, XM_011509351.2:c.5_11del, XM_011509351.1:c.5_11del, NM_001144830.3:c.5_11del, NM_001144830.2:c.5_11del, XM_017000801.3:c.5_11del, XM_017000801.2:c.5_11del, XM_017000801.1:c.5_11del, XM_017000802.3:c.5_11del, XM_017000802.2:c.5_11del, XM_017000802.1:c.5_11del, NM_001144829.3:c.5_11del, NM_001144829.2:c.5_11del, XM_047416285.1:c.5_11del, XM_047416278.1:c.5_11del, XM_047416274.1:c.5_11del, XM_047416292.1:c.5_11del, XM_047416250.1:c.5_11del, XP_005273004.1:p.Thr2fs, XP_005273005.1:p.Thr2fs, XP_005273003.1:p.Thr2fs, XP_006711307.1:p.Thr2fs, XP_011507652.1:p.Thr2fs, NP_001452.2:p.Thr2fs, XP_011507653.1:p.Thr2fs, NP_001138302.1:p.Thr2fs, XP_016856290.1:p.Thr2fs, XP_016856291.1:p.Thr2fs, NP_001138301.1:p.Thr2fs, XP_047272241.1:p.Thr2fs, XP_047272234.1:p.Thr2fs, XP_047272230.1:p.Thr2fs, XP_047272248.1:p.Thr2fs, XP_047272206.1:p.Thr2fs

Select item 142412101814.

rs1424121018 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:147212460 (GRCh38)
1:146684028 (GRCh37)
Canonical SPDI:: NC_000001.11:147212459:A:T
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.147212460A>T, NW_003871055.3:g.4027873A>T, NG_052905.1:g.44267A>T, NC_000001.10:g.146684028A>T, XM_005272947.6:c.563T>A, XM_005272947.5:c.563T>A, XM_005272947.4:c.563T>A, XM_005272947.3:c.563T>A, XM_005272947.2:c.563T>A, XM_005272947.1:c.563T>A, XM_005272948.6:c.563T>A, XM_005272948.5:c.563T>A, XM_005272948.4:c.563T>A, XM_005272948.3:c.563T>A, XM_005272948.2:c.563T>A, XM_005272948.1:c.563T>A, XM_005272946.6:c.563T>A, XM_005272946.5:c.563T>A, XM_005272946.4:c.563T>A, XM_005272946.3:c.563T>A, XM_005272946.2:c.563T>A, XM_005272946.1:c.563T>A, XM_006711244.5:c.563T>A, XM_006711244.4:c.563T>A, XM_006711244.3:c.563T>A, XM_006711244.2:c.563T>A, XM_006711244.1:c.563T>A, XM_011509350.4:c.563T>A, XM_011509350.3:c.563T>A, XM_011509350.2:c.563T>A, XM_011509350.1:c.563T>A, NM_001461.4:c.563T>A, NM_001461.3:c.563T>A, XM_011509351.4:c.374T>A, XM_011509351.3:c.374T>A, XM_011509351.2:c.374T>A, XM_011509351.1:c.374T>A, NM_001144830.3:c.563T>A, NM_001144830.2:c.563T>A, XM_017000801.3:c.374T>A, XM_017000801.2:c.374T>A, XM_017000801.1:c.374T>A, XM_017000802.3:c.374T>A, XM_017000802.2:c.374T>A, XM_017000802.1:c.374T>A, NM_001144829.3:c.563T>A, NM_001144829.2:c.563T>A, XM_047416285.1:c.563T>A, XM_047416278.1:c.563T>A, XM_047416274.1:c.563T>A, XM_047416292.1:c.374T>A, XM_047416250.1:c.374T>A, XP_005273004.1:p.Val188Asp, XP_005273005.1:p.Val188Asp, XP_005273003.1:p.Val188Asp, XP_006711307.1:p.Val188Asp, XP_011507652.1:p.Val188Asp, NP_001452.2:p.Val188Asp, XP_011507653.1:p.Val125Asp, NP_001138302.1:p.Val188Asp, XP_016856290.1:p.Val125Asp, XP_016856291.1:p.Val125Asp, NP_001138301.1:p.Val188Asp, XP_047272241.1:p.Val188Asp, XP_047272234.1:p.Val188Asp, XP_047272230.1:p.Val188Asp, XP_047272248.1:p.Val125Asp, XP_047272206.1:p.Val125Asp

Select item 141640195815.

rs1416401958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:147208986 (GRCh38)
1:146680548 (GRCh37)
Canonical SPDI:: NC_000001.11:147208985:A:G
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_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_000001.11:g.147208986A>G, NW_003871055.3:g.4024399A>G, NG_052905.1:g.40793A>G, NC_000001.10:g.146680548A>G, XM_005272947.6:c.696T>C, XM_005272947.5:c.696T>C, XM_005272947.4:c.696T>C, XM_005272947.3:c.696T>C, XM_005272947.2:c.696T>C, XM_005272947.1:c.696T>C, XM_005272948.6:c.696T>C, XM_005272948.5:c.696T>C, XM_005272948.4:c.696T>C, XM_005272948.3:c.696T>C, XM_005272948.2:c.696T>C, XM_005272948.1:c.696T>C, XM_005272946.6:c.696T>C, XM_005272946.5:c.696T>C, XM_005272946.4:c.696T>C, XM_005272946.3:c.696T>C, XM_005272946.2:c.696T>C, XM_005272946.1:c.696T>C, XM_006711244.5:c.696T>C, XM_006711244.4:c.696T>C, XM_006711244.3:c.696T>C, XM_006711244.2:c.696T>C, XM_006711244.1:c.696T>C, XM_011509350.4:c.696T>C, XM_011509350.3:c.696T>C, XM_011509350.2:c.696T>C, XM_011509350.1:c.696T>C, NM_001461.4:c.696T>C, NM_001461.3:c.696T>C, XM_011509351.4:c.507T>C, XM_011509351.3:c.507T>C, XM_011509351.2:c.507T>C, XM_011509351.1:c.507T>C, NM_001144830.3:c.696T>C, NM_001144830.2:c.696T>C, XM_017000801.3:c.507T>C, XM_017000801.2:c.507T>C, XM_017000801.1:c.507T>C, XM_017000802.3:c.507T>C, XM_017000802.2:c.507T>C, XM_017000802.1:c.507T>C, NM_001144829.3:c.696T>C, NM_001144829.2:c.696T>C, XM_047416285.1:c.696T>C, XM_047416278.1:c.696T>C, XM_047416274.1:c.696T>C, XM_047416292.1:c.507T>C, XM_047416250.1:c.507T>C

Select item 141605463216.

rs1416054632 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:147215797 (GRCh38)
1:146687367 (GRCh37)
Canonical SPDI:: NC_000001.11:147215796:A:G
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.147215797A>G, NW_003871055.3:g.4031210A>G, NG_052905.1:g.47604A>G, NC_000001.10:g.146687367A>G, XM_005272947.6:c.281T>C, XM_005272947.5:c.281T>C, XM_005272947.4:c.281T>C, XM_005272947.3:c.281T>C, XM_005272947.2:c.281T>C, XM_005272947.1:c.281T>C, XM_005272948.6:c.281T>C, XM_005272948.5:c.281T>C, XM_005272948.4:c.281T>C, XM_005272948.3:c.281T>C, XM_005272948.2:c.281T>C, XM_005272948.1:c.281T>C, XM_005272946.6:c.281T>C, XM_005272946.5:c.281T>C, XM_005272946.4:c.281T>C, XM_005272946.3:c.281T>C, XM_005272946.2:c.281T>C, XM_005272946.1:c.281T>C, XM_006711244.5:c.281T>C, XM_006711244.4:c.281T>C, XM_006711244.3:c.281T>C, XM_006711244.2:c.281T>C, XM_006711244.1:c.281T>C, XM_011509350.4:c.281T>C, XM_011509350.3:c.281T>C, XM_011509350.2:c.281T>C, XM_011509350.1:c.281T>C, NM_001461.4:c.281T>C, NM_001461.3:c.281T>C, NM_001144830.3:c.281T>C, NM_001144830.2:c.281T>C, NM_001144829.3:c.281T>C, NM_001144829.2:c.281T>C, XM_047416285.1:c.281T>C, XM_047416278.1:c.281T>C, XM_047416274.1:c.281T>C, XP_005273004.1:p.Met94Thr, XP_005273005.1:p.Met94Thr, XP_005273003.1:p.Met94Thr, XP_006711307.1:p.Met94Thr, XP_011507652.1:p.Met94Thr, NP_001452.2:p.Met94Thr, NP_001138302.1:p.Met94Thr, NP_001138301.1:p.Met94Thr, XP_047272241.1:p.Met94Thr, XP_047272234.1:p.Met94Thr, XP_047272230.1:p.Met94Thr

Select item 141583846317.

rs1415838463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:147204903 (GRCh38)
1:146676484 (GRCh37)
Canonical SPDI:: NC_000001.11:147204902:G:A,NC_000001.11:147204902:G:C
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.147204903G>A, NC_000001.11:g.147204903G>C, NW_003871055.3:g.4020316G>A, NW_003871055.3:g.4020316G>C, NG_016732.3:g.182C>T, NG_016732.3:g.182C>G, NG_052905.1:g.36710G>A, NG_052905.1:g.36710G>C, NC_000001.10:g.146676484G>A, NC_000001.10:g.146676484G>C, XM_006711244.5:c.937C>T, XM_006711244.5:c.937C>G, XM_006711244.4:c.937C>T, XM_006711244.4:c.937C>G, XM_006711244.3:c.937C>T, XM_006711244.3:c.937C>G, XM_006711244.2:c.937C>T, XM_006711244.2:c.937C>G, XM_006711244.1:c.937C>T, XM_006711244.1:c.937C>G, XM_047416285.1:c.937C>T, XM_047416285.1:c.937C>G, XM_047416278.1:c.937C>T, XM_047416278.1:c.937C>G, XM_047416274.1:c.937C>T, XM_047416274.1:c.937C>G, XM_047416292.1:c.748C>T, XM_047416292.1:c.748C>G, XP_006711307.1:p.Leu313Phe, XP_006711307.1:p.Leu313Val, XP_047272241.1:p.Leu313Phe, XP_047272241.1:p.Leu313Val, XP_047272234.1:p.Leu313Phe, XP_047272234.1:p.Leu313Val, XP_047272230.1:p.Leu313Phe, XP_047272230.1:p.Leu313Val, XP_047272248.1:p.Leu250Phe, XP_047272248.1:p.Leu250Val

Select item 141565871518.

rs1415658715 [Homo sapiens]

Variant type:: SNV:
Alleles:: >
Chromosome:: no mapping
Canonical SPDI:

Select item 140965993719.

rs1409659937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:147215872 (GRCh38)
1:146687442 (GRCh37)
Canonical SPDI:: NC_000001.11:147215871:C:A
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.147215872C>A, NW_003871055.3:g.4031285C>A, NG_052905.1:g.47679C>A, NC_000001.10:g.146687442C>A, XM_005272947.6:c.206G>T, XM_005272947.5:c.206G>T, XM_005272947.4:c.206G>T, XM_005272947.3:c.206G>T, XM_005272947.2:c.206G>T, XM_005272947.1:c.206G>T, XM_005272948.6:c.206G>T, XM_005272948.5:c.206G>T, XM_005272948.4:c.206G>T, XM_005272948.3:c.206G>T, XM_005272948.2:c.206G>T, XM_005272948.1:c.206G>T, XM_005272946.6:c.206G>T, XM_005272946.5:c.206G>T, XM_005272946.4:c.206G>T, XM_005272946.3:c.206G>T, XM_005272946.2:c.206G>T, XM_005272946.1:c.206G>T, XM_006711244.5:c.206G>T, XM_006711244.4:c.206G>T, XM_006711244.3:c.206G>T, XM_006711244.2:c.206G>T, XM_006711244.1:c.206G>T, XM_011509350.4:c.206G>T, XM_011509350.3:c.206G>T, XM_011509350.2:c.206G>T, XM_011509350.1:c.206G>T, NM_001461.4:c.206G>T, NM_001461.3:c.206G>T, NM_001144830.3:c.206G>T, NM_001144830.2:c.206G>T, NM_001144829.3:c.206G>T, NM_001144829.2:c.206G>T, XM_047416285.1:c.206G>T, XM_047416278.1:c.206G>T, XM_047416274.1:c.206G>T, XP_005273004.1:p.Cys69Phe, XP_005273005.1:p.Cys69Phe, XP_005273003.1:p.Cys69Phe, XP_006711307.1:p.Cys69Phe, XP_011507652.1:p.Cys69Phe, NP_001452.2:p.Cys69Phe, NP_001138302.1:p.Cys69Phe, NP_001138301.1:p.Cys69Phe, XP_047272241.1:p.Cys69Phe, XP_047272234.1:p.Cys69Phe, XP_047272230.1:p.Cys69Phe

Select item 140469040420.

rs1404690404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:147204977 (GRCh38)
1:146676558 (GRCh37)
Canonical SPDI:: NC_000001.11:147204976:C:T
Gene:: FMO5 (Varview), CHD1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.147204977C>T, NW_003871055.3:g.4020390C>T, NG_016732.3:g.108G>A, NG_052905.1:g.36784C>T, NC_000001.10:g.146676558C>T, XM_006711244.5:c.863G>A, XM_006711244.4:c.863G>A, XM_006711244.3:c.863G>A, XM_006711244.2:c.863G>A, XM_006711244.1:c.863G>A, XM_047416285.1:c.863G>A, XM_047416278.1:c.863G>A, XM_047416274.1:c.863G>A, XM_047416292.1:c.674G>A, XP_006711307.1:p.Arg288His, XP_047272241.1:p.Arg288His, XP_047272234.1:p.Arg288His, XP_047272230.1:p.Arg288His, XP_047272248.1:p.Arg225His

<< First< Prev

Page of 14

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 279

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity