SNP Links for Protein (Select 30089926) - SNP

Links from Protein

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Select item 14894430961.

rs1489443096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:47823320 (GRCh38)
2:48050459 (GRCh37)
Canonical SPDI:: NC_000002.12:47823319:G:A
Gene:: FBXO11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.47823320G>A, NC_000002.11:g.48050459G>A, NG_008397.1:g.87356C>T, NM_025133.4:c.1187C>T, NM_001190274.2:c.1439C>T, NM_001190274.1:c.1439C>T, NM_001374325.1:c.1187C>T, XM_005264572.6:c.1439C>T, XM_005264572.5:c.1439C>T, XM_005264572.4:c.1439C>T, XM_005264572.3:c.1439C>T, XM_005264572.2:c.1439C>T, XM_005264572.1:c.1439C>T, XM_005264573.6:c.1436C>T, XM_005264573.5:c.1436C>T, XM_005264573.4:c.1436C>T, XM_005264573.3:c.1436C>T, XM_005264573.2:c.1436C>T, XM_005264573.1:c.1436C>T, XM_017005016.3:c.1187C>T, XM_017005016.2:c.1187C>T, XM_017005016.1:c.1187C>T, XM_017005015.2:c.1436C>T, XM_017005015.1:c.1436C>T, NM_018693.2:c.1187C>T, XM_047445922.1:c.1184C>T, XM_047445919.1:c.1187C>T, XM_047445920.1:c.1184C>T, XM_047445921.1:c.1187C>T, NM_012167.1:c.1187C>T, NP_079409.3:p.Ala396Val, NP_001177203.1:p.Ala480Val, NP_001361254.1:p.Ala396Val, XP_005264629.1:p.Ala480Val, XP_005264630.1:p.Ala479Val, XP_016860505.1:p.Ala396Val, XP_016860504.1:p.Ala479Val, XP_047301878.1:p.Ala395Val, XP_047301875.1:p.Ala396Val, XP_047301876.1:p.Ala395Val, XP_047301877.1:p.Ala396Val

Select item 14882506582.

rs1488250658 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:47838996 (GRCh38)
2:48066135 (GRCh37)
Canonical SPDI:: NC_000002.12:47838995:A:G
Gene:: FBXO11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.47838996A>G, NC_000002.11:g.48066135A>G, NG_008397.1:g.71680T>C, NM_025133.4:c.198T>C, NM_001190274.2:c.450T>C, NM_001190274.1:c.450T>C, NM_001374325.1:c.198T>C, XM_005264572.6:c.450T>C, XM_005264572.5:c.450T>C, XM_005264572.4:c.450T>C, XM_005264572.3:c.450T>C, XM_005264572.2:c.450T>C, XM_005264572.1:c.450T>C, XM_005264573.6:c.447T>C, XM_005264573.5:c.447T>C, XM_005264573.4:c.447T>C, XM_005264573.3:c.447T>C, XM_005264573.2:c.447T>C, XM_005264573.1:c.447T>C, XM_017005016.3:c.198T>C, XM_017005016.2:c.198T>C, XM_017005016.1:c.198T>C, XM_017005015.2:c.447T>C, XM_017005015.1:c.447T>C, NM_018693.2:c.198T>C, XM_047445922.1:c.195T>C, XM_047445919.1:c.198T>C, XM_047445920.1:c.195T>C, XM_047445921.1:c.198T>C, NM_012167.1:c.198T>C

Select item 14873298213.

rs1487329821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:47832475 (GRCh38)
2:48059614 (GRCh37)
Canonical SPDI:: NC_000002.12:47832474:C:G,NC_000002.12:47832474:C:T
Gene:: FBXO11 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.47832475C>G, NC_000002.12:g.47832475C>T, NC_000002.11:g.48059614C>G, NC_000002.11:g.48059614C>T, NG_008397.1:g.78201G>C, NG_008397.1:g.78201G>A, NM_025133.4:c.1020G>C, NM_025133.4:c.1020G>A, NM_001190274.2:c.1272G>C, NM_001190274.2:c.1272G>A, NM_001190274.1:c.1272G>C, NM_001190274.1:c.1272G>A, NM_001374325.1:c.1020G>C, NM_001374325.1:c.1020G>A, XM_005264572.6:c.1272G>C, XM_005264572.6:c.1272G>A, XM_005264572.5:c.1272G>C, XM_005264572.5:c.1272G>A, XM_005264572.4:c.1272G>C, XM_005264572.4:c.1272G>A, XM_005264572.3:c.1272G>C, XM_005264572.3:c.1272G>A, XM_005264572.2:c.1272G>C, XM_005264572.2:c.1272G>A, XM_005264572.1:c.1272G>C, XM_005264572.1:c.1272G>A, XM_005264573.6:c.1269G>C, XM_005264573.6:c.1269G>A, XM_005264573.5:c.1269G>C, XM_005264573.5:c.1269G>A, XM_005264573.4:c.1269G>C, XM_005264573.4:c.1269G>A, XM_005264573.3:c.1269G>C, XM_005264573.3:c.1269G>A, XM_005264573.2:c.1269G>C, XM_005264573.2:c.1269G>A, XM_005264573.1:c.1269G>C, XM_005264573.1:c.1269G>A, XM_017005016.3:c.1020G>C, XM_017005016.3:c.1020G>A, XM_017005016.2:c.1020G>C, XM_017005016.2:c.1020G>A, XM_017005016.1:c.1020G>C, XM_017005016.1:c.1020G>A, XM_017005015.2:c.1269G>C, XM_017005015.2:c.1269G>A, XM_017005015.1:c.1269G>C, XM_017005015.1:c.1269G>A, NM_018693.2:c.1020G>C, NM_018693.2:c.1020G>A, XM_047445922.1:c.1017G>C, XM_047445922.1:c.1017G>A, XM_047445919.1:c.1020G>C, XM_047445919.1:c.1020G>A, XM_047445920.1:c.1017G>C, XM_047445920.1:c.1017G>A, XM_047445921.1:c.1020G>C, XM_047445921.1:c.1020G>A, NM_012167.1:c.1020G>C, NM_012167.1:c.1020G>A, NP_079409.3:p.Glu340Asp, NP_001177203.1:p.Glu424Asp, NP_001361254.1:p.Glu340Asp, XP_005264629.1:p.Glu424Asp, XP_005264630.1:p.Glu423Asp, XP_016860505.1:p.Glu340Asp, XP_016860504.1:p.Glu423Asp, XP_047301878.1:p.Glu339Asp, XP_047301875.1:p.Glu340Asp, XP_047301876.1:p.Glu339Asp, XP_047301877.1:p.Glu340Asp

Select item 14870158404.

rs1487015840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:47818962 (GRCh38)
2:48046101 (GRCh37)
Canonical SPDI:: NC_000002.12:47818961:G:C
Gene:: FBXO11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.47818962G>C, NC_000002.11:g.48046101G>C, NG_008397.1:g.91714C>G, NM_025133.4:c.1662C>G, NM_001190274.2:c.1914C>G, NM_001190274.1:c.1914C>G, NM_001374325.1:c.1662C>G, XM_005264572.6:c.1914C>G, XM_005264572.5:c.1914C>G, XM_005264572.4:c.1914C>G, XM_005264572.3:c.1914C>G, XM_005264572.2:c.1914C>G, XM_005264572.1:c.1914C>G, XM_005264573.6:c.1911C>G, XM_005264573.5:c.1911C>G, XM_005264573.4:c.1911C>G, XM_005264573.3:c.1911C>G, XM_005264573.2:c.1911C>G, XM_005264573.1:c.1911C>G, XM_017005016.3:c.1662C>G, XM_017005016.2:c.1662C>G, XM_017005016.1:c.1662C>G, XM_017005015.2:c.1911C>G, XM_017005015.1:c.1911C>G, NM_018693.2:c.1662C>G, XM_047445922.1:c.1659C>G, XM_047445919.1:c.1662C>G, XM_047445920.1:c.1659C>G, XM_047445921.1:c.1662C>G, NM_012167.1:c.1662C>G

Select item 14868084645.

rs1486808464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:47835952 (GRCh38)
2:48063091 (GRCh37)
Canonical SPDI:: NC_000002.12:47835951:G:A
Gene:: FBXO11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.47835952G>A, NC_000002.11:g.48063091G>A, NG_008397.1:g.74724C>T, NM_025133.4:c.385C>T, NM_001190274.2:c.637C>T, NM_001190274.1:c.637C>T, NM_001374325.1:c.385C>T, XM_005264572.6:c.637C>T, XM_005264572.5:c.637C>T, XM_005264572.4:c.637C>T, XM_005264572.3:c.637C>T, XM_005264572.2:c.637C>T, XM_005264572.1:c.637C>T, XM_005264573.6:c.634C>T, XM_005264573.5:c.634C>T, XM_005264573.4:c.634C>T, XM_005264573.3:c.634C>T, XM_005264573.2:c.634C>T, XM_005264573.1:c.634C>T, XM_017005016.3:c.385C>T, XM_017005016.2:c.385C>T, XM_017005016.1:c.385C>T, XM_017005015.2:c.634C>T, XM_017005015.1:c.634C>T, NM_018693.2:c.385C>T, XM_047445922.1:c.382C>T, XM_047445919.1:c.385C>T, XM_047445920.1:c.382C>T, XM_047445921.1:c.385C>T, NM_012167.1:c.385C>T, NP_079409.3:p.Pro129Ser, NP_001177203.1:p.Pro213Ser, NP_001361254.1:p.Pro129Ser, XP_005264629.1:p.Pro213Ser, XP_005264630.1:p.Pro212Ser, XP_016860505.1:p.Pro129Ser, XP_016860504.1:p.Pro212Ser, XP_047301878.1:p.Pro128Ser, XP_047301875.1:p.Pro129Ser, XP_047301876.1:p.Pro128Ser, XP_047301877.1:p.Pro129Ser

Select item 14866548496.

rs1486654849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:47809675 (GRCh38)
2:48036814 (GRCh37)
Canonical SPDI:: NC_000002.12:47809674:G:C
Gene:: FBXO11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.47809675G>C, NC_000002.11:g.48036814G>C, NG_008397.1:g.101001C>G, NM_025133.4:c.2119C>G, NM_001190274.2:c.2371C>G, NM_001190274.1:c.2371C>G, NM_001374325.1:c.2119C>G, XM_005264572.6:c.2371C>G, XM_005264572.5:c.2371C>G, XM_005264572.4:c.2371C>G, XM_005264572.3:c.2371C>G, XM_005264572.2:c.2371C>G, XM_005264572.1:c.2371C>G, XM_005264573.6:c.2368C>G, XM_005264573.5:c.2368C>G, XM_005264573.4:c.2368C>G, XM_005264573.3:c.2368C>G, XM_005264573.2:c.2368C>G, XM_005264573.1:c.2368C>G, XM_017005016.3:c.2119C>G, XM_017005016.2:c.2119C>G, XM_017005016.1:c.2119C>G, XM_017005015.2:c.2368C>G, XM_017005015.1:c.2368C>G, XM_047445922.1:c.2116C>G, XM_047445919.1:c.2119C>G, XM_047445920.1:c.2116C>G, XM_047445921.1:c.2119C>G, NM_018693.1:c.-69C>G, NP_079409.3:p.Leu707Val, NP_001177203.1:p.Leu791Val, NP_001361254.1:p.Leu707Val, XP_005264629.1:p.Leu791Val, XP_005264630.1:p.Leu790Val, XP_016860505.1:p.Leu707Val, XP_016860504.1:p.Leu790Val, XP_047301878.1:p.Leu706Val, XP_047301875.1:p.Leu707Val, XP_047301876.1:p.Leu706Val, XP_047301877.1:p.Leu707Val

Select item 14864049117.

rs1486404911 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:47838870 (GRCh38)
2:48066009 (GRCh37)
Canonical SPDI:: NC_000002.12:47838869:A:G
Gene:: FBXO11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.47838870A>G, NC_000002.11:g.48066009A>G, NG_008397.1:g.71806T>C, NM_025133.4:c.324T>C, NM_001190274.2:c.576T>C, NM_001190274.1:c.576T>C, NM_001374325.1:c.324T>C, XM_005264572.6:c.576T>C, XM_005264572.5:c.576T>C, XM_005264572.4:c.576T>C, XM_005264572.3:c.576T>C, XM_005264572.2:c.576T>C, XM_005264572.1:c.576T>C, XM_005264573.6:c.573T>C, XM_005264573.5:c.573T>C, XM_005264573.4:c.573T>C, XM_005264573.3:c.573T>C, XM_005264573.2:c.573T>C, XM_005264573.1:c.573T>C, XM_017005016.3:c.324T>C, XM_017005016.2:c.324T>C, XM_017005016.1:c.324T>C, XM_017005015.2:c.573T>C, XM_017005015.1:c.573T>C, NM_018693.2:c.324T>C, XM_047445922.1:c.321T>C, XM_047445919.1:c.324T>C, XM_047445920.1:c.321T>C, XM_047445921.1:c.324T>C, NM_012167.1:c.324T>C

Select item 14859662438.

rs1485966243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:47838888 (GRCh38)
2:48066027 (GRCh37)
Canonical SPDI:: NC_000002.12:47838887:G:A
Gene:: FBXO11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.47838888G>A, NC_000002.11:g.48066027G>A, NG_008397.1:g.71788C>T, NM_025133.4:c.306C>T, NM_001190274.2:c.558C>T, NM_001190274.1:c.558C>T, NM_001374325.1:c.306C>T, XM_005264572.6:c.558C>T, XM_005264572.5:c.558C>T, XM_005264572.4:c.558C>T, XM_005264572.3:c.558C>T, XM_005264572.2:c.558C>T, XM_005264572.1:c.558C>T, XM_005264573.6:c.555C>T, XM_005264573.5:c.555C>T, XM_005264573.4:c.555C>T, XM_005264573.3:c.555C>T, XM_005264573.2:c.555C>T, XM_005264573.1:c.555C>T, XM_017005016.3:c.306C>T, XM_017005016.2:c.306C>T, XM_017005016.1:c.306C>T, XM_017005015.2:c.555C>T, XM_017005015.1:c.555C>T, NM_018693.2:c.306C>T, XM_047445922.1:c.303C>T, XM_047445919.1:c.306C>T, XM_047445920.1:c.303C>T, XM_047445921.1:c.306C>T, NM_012167.1:c.306C>T

Select item 14847196029.

rs1484719602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:47808202 (GRCh38)
2:48035341 (GRCh37)
Canonical SPDI:: NC_000002.12:47808201:T:C
Gene:: FBXO11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.47808202T>C, NC_000002.11:g.48035341T>C, NG_008397.1:g.102474A>G, NM_025133.4:c.2448A>G, NM_001190274.2:c.2700A>G, NM_001190274.1:c.2700A>G, NM_001374325.1:c.2448A>G, NG_007111.1:g.30056T>C, XM_005264572.6:c.2781A>G, XM_005264572.5:c.2781A>G, XM_005264572.4:c.2781A>G, XM_005264572.3:c.2781A>G, XM_005264572.2:c.2781A>G, XM_005264572.1:c.2781A>G, XM_005264573.6:c.2778A>G, XM_005264573.5:c.2778A>G, XM_005264573.4:c.2778A>G, XM_005264573.3:c.2778A>G, XM_005264573.2:c.2778A>G, XM_005264573.1:c.2778A>G, XM_017005016.3:c.2529A>G, XM_017005016.2:c.2529A>G, XM_017005016.1:c.2529A>G, XM_017005015.2:c.2697A>G, XM_017005015.1:c.2697A>G, XM_047445922.1:c.2445A>G, XM_047445919.1:c.2529A>G, XM_047445920.1:c.2526A>G, XM_047445921.1:c.2448A>G, NM_018693.1:c.342A>G

Select item 148120975910.

rs1481209759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:47808154 (GRCh38)
2:48035293 (GRCh37)
Canonical SPDI:: NC_000002.12:47808153:A:G
Gene:: FBXO11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.47808154A>G, NC_000002.11:g.48035293A>G, NG_008397.1:g.102522T>C, NM_025133.4:c.2496T>C, NM_001190274.2:c.2748T>C, NM_001190274.1:c.2748T>C, NM_001374325.1:c.2496T>C, NG_007111.1:g.30008A>G, XM_005264572.6:c.2829T>C, XM_005264572.5:c.2829T>C, XM_005264572.4:c.2829T>C, XM_005264572.3:c.2829T>C, XM_005264572.2:c.2829T>C, XM_005264572.1:c.2829T>C, XM_005264573.6:c.2826T>C, XM_005264573.5:c.2826T>C, XM_005264573.4:c.2826T>C, XM_005264573.3:c.2826T>C, XM_005264573.2:c.2826T>C, XM_005264573.1:c.2826T>C, XM_017005016.3:c.2577T>C, XM_017005016.2:c.2577T>C, XM_017005016.1:c.2577T>C, XM_017005015.2:c.2745T>C, XM_017005015.1:c.2745T>C, XM_047445922.1:c.2493T>C, XM_047445919.1:c.2577T>C, XM_047445920.1:c.2574T>C, XM_047445921.1:c.2496T>C, NM_018693.1:c.390T>C

Select item 147595962711.

rs1475959627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:47810392 (GRCh38)
2:48037531 (GRCh37)
Canonical SPDI:: NC_000002.12:47810391:A:G
Gene:: FBXO11 (Varview)
Functional Consequence:: coding_sequence_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_000002.12:g.47810392A>G, NC_000002.11:g.48037531A>G, NG_008397.1:g.100284T>C, NM_025133.4:c.2010T>C, NM_001190274.2:c.2262T>C, NM_001190274.1:c.2262T>C, NM_001374325.1:c.2010T>C, XM_005264572.6:c.2262T>C, XM_005264572.5:c.2262T>C, XM_005264572.4:c.2262T>C, XM_005264572.3:c.2262T>C, XM_005264572.2:c.2262T>C, XM_005264572.1:c.2262T>C, XM_005264573.6:c.2259T>C, XM_005264573.5:c.2259T>C, XM_005264573.4:c.2259T>C, XM_005264573.3:c.2259T>C, XM_005264573.2:c.2259T>C, XM_005264573.1:c.2259T>C, XM_017005016.3:c.2010T>C, XM_017005016.2:c.2010T>C, XM_017005016.1:c.2010T>C, XM_017005015.2:c.2259T>C, XM_017005015.1:c.2259T>C, XM_047445922.1:c.2007T>C, XM_047445919.1:c.2010T>C, XM_047445920.1:c.2007T>C, XM_047445921.1:c.2010T>C, NM_018693.1:c.-178T>C

Select item 147016052312.

rs1470160523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:47839470 (GRCh38)
2:48066609 (GRCh37)
Canonical SPDI:: NC_000002.12:47839469:C:T
Gene:: FBXO11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.47839470C>T, NC_000002.11:g.48066609C>T, NG_008397.1:g.71206G>A, NM_025133.4:c.139G>A, NM_001190274.2:c.391G>A, NM_001190274.1:c.391G>A, NM_001374325.1:c.139G>A, XM_005264572.6:c.391G>A, XM_005264572.5:c.391G>A, XM_005264572.4:c.391G>A, XM_005264572.3:c.391G>A, XM_005264572.2:c.391G>A, XM_005264572.1:c.391G>A, XM_005264573.6:c.391G>A, XM_005264573.5:c.391G>A, XM_005264573.4:c.391G>A, XM_005264573.3:c.391G>A, XM_005264573.2:c.391G>A, XM_005264573.1:c.391G>A, XM_017005016.3:c.139G>A, XM_017005016.2:c.139G>A, XM_017005016.1:c.139G>A, XM_017005015.2:c.391G>A, XM_017005015.1:c.391G>A, NM_018693.2:c.139G>A, XM_047445922.1:c.139G>A, XM_047445919.1:c.139G>A, XM_047445920.1:c.139G>A, XM_047445921.1:c.139G>A, NM_012167.1:c.139G>A, NP_079409.3:p.Gly47Ser, NP_001177203.1:p.Gly131Ser, NP_001361254.1:p.Gly47Ser, XP_005264629.1:p.Gly131Ser, XP_005264630.1:p.Gly131Ser, XP_016860505.1:p.Gly47Ser, XP_016860504.1:p.Gly131Ser, XP_047301878.1:p.Gly47Ser, XP_047301875.1:p.Gly47Ser, XP_047301876.1:p.Gly47Ser, XP_047301877.1:p.Gly47Ser

Select item 146712527413.

rs1467125274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:47832675 (GRCh38)
2:48059814 (GRCh37)
Canonical SPDI:: NC_000002.12:47832674:C:T
Gene:: FBXO11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.47832675C>T, NC_000002.11:g.48059814C>T, NG_008397.1:g.78001G>A, NM_025133.4:c.905G>A, NM_001190274.2:c.1157G>A, NM_001190274.1:c.1157G>A, NM_001374325.1:c.905G>A, XM_005264572.6:c.1157G>A, XM_005264572.5:c.1157G>A, XM_005264572.4:c.1157G>A, XM_005264572.3:c.1157G>A, XM_005264572.2:c.1157G>A, XM_005264572.1:c.1157G>A, XM_005264573.6:c.1154G>A, XM_005264573.5:c.1154G>A, XM_005264573.4:c.1154G>A, XM_005264573.3:c.1154G>A, XM_005264573.2:c.1154G>A, XM_005264573.1:c.1154G>A, XM_017005016.3:c.905G>A, XM_017005016.2:c.905G>A, XM_017005016.1:c.905G>A, XM_017005015.2:c.1154G>A, XM_017005015.1:c.1154G>A, NM_018693.2:c.905G>A, XM_047445922.1:c.902G>A, XM_047445919.1:c.905G>A, XM_047445920.1:c.902G>A, XM_047445921.1:c.905G>A, NM_012167.1:c.905G>A, NP_079409.3:p.Gly302Asp, NP_001177203.1:p.Gly386Asp, NP_001361254.1:p.Gly302Asp, XP_005264629.1:p.Gly386Asp, XP_005264630.1:p.Gly385Asp, XP_016860505.1:p.Gly302Asp, XP_016860504.1:p.Gly385Asp, XP_047301878.1:p.Gly301Asp, XP_047301875.1:p.Gly302Asp, XP_047301876.1:p.Gly301Asp, XP_047301877.1:p.Gly302Asp

Select item 146654397914.

rs1466543979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:47818826 (GRCh38)
2:48045965 (GRCh37)
Canonical SPDI:: NC_000002.12:47818825:T:C
Gene:: FBXO11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.47818826T>C, NC_000002.11:g.48045965T>C, NG_008397.1:g.91850A>G, NM_025133.4:c.1707A>G, NM_001190274.2:c.1959A>G, NM_001190274.1:c.1959A>G, NM_001374325.1:c.1707A>G, XM_005264572.6:c.1959A>G, XM_005264572.5:c.1959A>G, XM_005264572.4:c.1959A>G, XM_005264572.3:c.1959A>G, XM_005264572.2:c.1959A>G, XM_005264572.1:c.1959A>G, XM_005264573.6:c.1956A>G, XM_005264573.5:c.1956A>G, XM_005264573.4:c.1956A>G, XM_005264573.3:c.1956A>G, XM_005264573.2:c.1956A>G, XM_005264573.1:c.1956A>G, XM_017005016.3:c.1707A>G, XM_017005016.2:c.1707A>G, XM_017005016.1:c.1707A>G, XM_017005015.2:c.1956A>G, XM_017005015.1:c.1956A>G, NM_018693.2:c.1707A>G, XM_047445922.1:c.1704A>G, XM_047445919.1:c.1707A>G, XM_047445920.1:c.1704A>G, XM_047445921.1:c.1707A>G, NM_012167.1:c.1707A>G

Select item 146581158015.

rs1465811580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:47839686 (GRCh38)
2:48066825 (GRCh37)
Canonical SPDI:: NC_000002.12:47839685:G:C
Gene:: FBXO11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00007/1 (ALFA)
C=0.00022/1 (Estonian)
HGVS:: NC_000002.12:g.47839686G>C, NC_000002.11:g.48066825G>C, NG_008397.1:g.70990C>G, NM_025133.4:c.64C>G, NM_001190274.2:c.316C>G, NM_001190274.1:c.316C>G, NM_001374325.1:c.64C>G, XM_005264572.6:c.316C>G, XM_005264572.5:c.316C>G, XM_005264572.4:c.316C>G, XM_005264572.3:c.316C>G, XM_005264572.2:c.316C>G, XM_005264572.1:c.316C>G, XM_005264573.6:c.316C>G, XM_005264573.5:c.316C>G, XM_005264573.4:c.316C>G, XM_005264573.3:c.316C>G, XM_005264573.2:c.316C>G, XM_005264573.1:c.316C>G, XM_017005016.3:c.64C>G, XM_017005016.2:c.64C>G, XM_017005016.1:c.64C>G, XM_017005015.2:c.316C>G, XM_017005015.1:c.316C>G, NM_018693.2:c.64C>G, XM_047445922.1:c.64C>G, XM_047445919.1:c.64C>G, XM_047445920.1:c.64C>G, XM_047445921.1:c.64C>G, NM_012167.1:c.64C>G, NP_079409.3:p.Leu22Val, NP_001177203.1:p.Leu106Val, NP_001361254.1:p.Leu22Val, XP_005264629.1:p.Leu106Val, XP_005264630.1:p.Leu106Val, XP_016860505.1:p.Leu22Val, XP_016860504.1:p.Leu106Val, XP_047301878.1:p.Leu22Val, XP_047301875.1:p.Leu22Val, XP_047301876.1:p.Leu22Val, XP_047301877.1:p.Leu22Val

Select item 146556399916.

rs1465563999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:47833051 (GRCh38)
2:48060190 (GRCh37)
Canonical SPDI:: NC_000002.12:47833050:G:A,NC_000002.12:47833050:G:C
Gene:: FBXO11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.47833051G>A, NC_000002.12:g.47833051G>C, NC_000002.11:g.48060190G>A, NC_000002.11:g.48060190G>C, NG_008397.1:g.77625C>T, NG_008397.1:g.77625C>G, NM_025133.4:c.702C>T, NM_025133.4:c.702C>G, NM_001190274.2:c.954C>T, NM_001190274.2:c.954C>G, NM_001190274.1:c.954C>T, NM_001190274.1:c.954C>G, NM_001374325.1:c.702C>T, NM_001374325.1:c.702C>G, XM_005264572.6:c.954C>T, XM_005264572.6:c.954C>G, XM_005264572.5:c.954C>T, XM_005264572.5:c.954C>G, XM_005264572.4:c.954C>T, XM_005264572.4:c.954C>G, XM_005264572.3:c.954C>T, XM_005264572.3:c.954C>G, XM_005264572.2:c.954C>T, XM_005264572.2:c.954C>G, XM_005264572.1:c.954C>T, XM_005264572.1:c.954C>G, XM_005264573.6:c.951C>T, XM_005264573.6:c.951C>G, XM_005264573.5:c.951C>T, XM_005264573.5:c.951C>G, XM_005264573.4:c.951C>T, XM_005264573.4:c.951C>G, XM_005264573.3:c.951C>T, XM_005264573.3:c.951C>G, XM_005264573.2:c.951C>T, XM_005264573.2:c.951C>G, XM_005264573.1:c.951C>T, XM_005264573.1:c.951C>G, XM_017005016.3:c.702C>T, XM_017005016.3:c.702C>G, XM_017005016.2:c.702C>T, XM_017005016.2:c.702C>G, XM_017005016.1:c.702C>T, XM_017005016.1:c.702C>G, XM_017005015.2:c.951C>T, XM_017005015.2:c.951C>G, XM_017005015.1:c.951C>T, XM_017005015.1:c.951C>G, NM_018693.2:c.702C>T, NM_018693.2:c.702C>G, XM_047445922.1:c.699C>T, XM_047445922.1:c.699C>G, XM_047445919.1:c.702C>T, XM_047445919.1:c.702C>G, XM_047445920.1:c.699C>T, XM_047445920.1:c.699C>G, XM_047445921.1:c.702C>T, XM_047445921.1:c.702C>G, NM_012167.1:c.702C>T, NM_012167.1:c.702C>G, NP_079409.3:p.Asp234Glu, NP_001177203.1:p.Asp318Glu, NP_001361254.1:p.Asp234Glu, XP_005264629.1:p.Asp318Glu, XP_005264630.1:p.Asp317Glu, XP_016860505.1:p.Asp234Glu, XP_016860504.1:p.Asp317Glu, XP_047301878.1:p.Asp233Glu, XP_047301875.1:p.Asp234Glu, XP_047301876.1:p.Asp233Glu, XP_047301877.1:p.Asp234Glu

Select item 146364602217.

rs1463646022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:47820444 (GRCh38)
2:48047583 (GRCh37)
Canonical SPDI:: NC_000002.12:47820443:G:A
Gene:: FBXO11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.47820444G>A, NC_000002.11:g.48047583G>A, NG_008397.1:g.90232C>T, NM_025133.4:c.1463C>T, NM_001190274.2:c.1715C>T, NM_001190274.1:c.1715C>T, NM_001374325.1:c.1463C>T, XM_005264572.6:c.1715C>T, XM_005264572.5:c.1715C>T, XM_005264572.4:c.1715C>T, XM_005264572.3:c.1715C>T, XM_005264572.2:c.1715C>T, XM_005264572.1:c.1715C>T, XM_005264573.6:c.1712C>T, XM_005264573.5:c.1712C>T, XM_005264573.4:c.1712C>T, XM_005264573.3:c.1712C>T, XM_005264573.2:c.1712C>T, XM_005264573.1:c.1712C>T, XM_017005016.3:c.1463C>T, XM_017005016.2:c.1463C>T, XM_017005016.1:c.1463C>T, XM_017005015.2:c.1712C>T, XM_017005015.1:c.1712C>T, NM_018693.2:c.1463C>T, XM_047445922.1:c.1460C>T, XM_047445919.1:c.1463C>T, XM_047445920.1:c.1460C>T, XM_047445921.1:c.1463C>T, NM_012167.1:c.1463C>T, NP_079409.3:p.Ala488Val, NP_001177203.1:p.Ala572Val, NP_001361254.1:p.Ala488Val, XP_005264629.1:p.Ala572Val, XP_005264630.1:p.Ala571Val, XP_016860505.1:p.Ala488Val, XP_016860504.1:p.Ala571Val, XP_047301878.1:p.Ala487Val, XP_047301875.1:p.Ala488Val, XP_047301876.1:p.Ala487Val, XP_047301877.1:p.Ala488Val

Select item 145852604618.

rs1458526046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:47832574 (GRCh38)
2:48059713 (GRCh37)
Canonical SPDI:: NC_000002.12:47832573:G:C
Gene:: FBXO11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.47832574G>C, NC_000002.11:g.48059713G>C, NG_008397.1:g.78102C>G, NM_025133.4:c.1006C>G, NM_001190274.2:c.1258C>G, NM_001190274.1:c.1258C>G, NM_001374325.1:c.1006C>G, XM_005264572.6:c.1258C>G, XM_005264572.5:c.1258C>G, XM_005264572.4:c.1258C>G, XM_005264572.3:c.1258C>G, XM_005264572.2:c.1258C>G, XM_005264572.1:c.1258C>G, XM_005264573.6:c.1255C>G, XM_005264573.5:c.1255C>G, XM_005264573.4:c.1255C>G, XM_005264573.3:c.1255C>G, XM_005264573.2:c.1255C>G, XM_005264573.1:c.1255C>G, XM_017005016.3:c.1006C>G, XM_017005016.2:c.1006C>G, XM_017005016.1:c.1006C>G, XM_017005015.2:c.1255C>G, XM_017005015.1:c.1255C>G, NM_018693.2:c.1006C>G, XM_047445922.1:c.1003C>G, XM_047445919.1:c.1006C>G, XM_047445920.1:c.1003C>G, XM_047445921.1:c.1006C>G, NM_012167.1:c.1006C>G, NP_079409.3:p.Gln336Glu, NP_001177203.1:p.Gln420Glu, NP_001361254.1:p.Gln336Glu, XP_005264629.1:p.Gln420Glu, XP_005264630.1:p.Gln419Glu, XP_016860505.1:p.Gln336Glu, XP_016860504.1:p.Gln419Glu, XP_047301878.1:p.Gln335Glu, XP_047301875.1:p.Gln336Glu, XP_047301876.1:p.Gln335Glu, XP_047301877.1:p.Gln336Glu

Select item 145809268919.

rs1458092689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:47833019 (GRCh38)
2:48060158 (GRCh37)
Canonical SPDI:: NC_000002.12:47833018:G:A,NC_000002.12:47833018:G:C
Gene:: FBXO11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.47833019G>A, NC_000002.12:g.47833019G>C, NC_000002.11:g.48060158G>A, NC_000002.11:g.48060158G>C, NG_008397.1:g.77657C>T, NG_008397.1:g.77657C>G, NM_025133.4:c.734C>T, NM_025133.4:c.734C>G, NM_001190274.2:c.986C>T, NM_001190274.2:c.986C>G, NM_001190274.1:c.986C>T, NM_001190274.1:c.986C>G, NM_001374325.1:c.734C>T, NM_001374325.1:c.734C>G, XM_005264572.6:c.986C>T, XM_005264572.6:c.986C>G, XM_005264572.5:c.986C>T, XM_005264572.5:c.986C>G, XM_005264572.4:c.986C>T, XM_005264572.4:c.986C>G, XM_005264572.3:c.986C>T, XM_005264572.3:c.986C>G, XM_005264572.2:c.986C>T, XM_005264572.2:c.986C>G, XM_005264572.1:c.986C>T, XM_005264572.1:c.986C>G, XM_005264573.6:c.983C>T, XM_005264573.6:c.983C>G, XM_005264573.5:c.983C>T, XM_005264573.5:c.983C>G, XM_005264573.4:c.983C>T, XM_005264573.4:c.983C>G, XM_005264573.3:c.983C>T, XM_005264573.3:c.983C>G, XM_005264573.2:c.983C>T, XM_005264573.2:c.983C>G, XM_005264573.1:c.983C>T, XM_005264573.1:c.983C>G, XM_017005016.3:c.734C>T, XM_017005016.3:c.734C>G, XM_017005016.2:c.734C>T, XM_017005016.2:c.734C>G, XM_017005016.1:c.734C>T, XM_017005016.1:c.734C>G, XM_017005015.2:c.983C>T, XM_017005015.2:c.983C>G, XM_017005015.1:c.983C>T, XM_017005015.1:c.983C>G, NM_018693.2:c.734C>T, NM_018693.2:c.734C>G, XM_047445922.1:c.731C>T, XM_047445922.1:c.731C>G, XM_047445919.1:c.734C>T, XM_047445919.1:c.734C>G, XM_047445920.1:c.731C>T, XM_047445920.1:c.731C>G, XM_047445921.1:c.734C>T, XM_047445921.1:c.734C>G, NM_012167.1:c.734C>T, NM_012167.1:c.734C>G, NP_079409.3:p.Thr245Ile, NP_079409.3:p.Thr245Ser, NP_001177203.1:p.Thr329Ile, NP_001177203.1:p.Thr329Ser, NP_001361254.1:p.Thr245Ile, NP_001361254.1:p.Thr245Ser, XP_005264629.1:p.Thr329Ile, XP_005264629.1:p.Thr329Ser, XP_005264630.1:p.Thr328Ile, XP_005264630.1:p.Thr328Ser, XP_016860505.1:p.Thr245Ile, XP_016860505.1:p.Thr245Ser, XP_016860504.1:p.Thr328Ile, XP_016860504.1:p.Thr328Ser, XP_047301878.1:p.Thr244Ile, XP_047301878.1:p.Thr244Ser, XP_047301875.1:p.Thr245Ile, XP_047301875.1:p.Thr245Ser, XP_047301876.1:p.Thr244Ile, XP_047301876.1:p.Thr244Ser, XP_047301877.1:p.Thr245Ile, XP_047301877.1:p.Thr245Ser

Select item 145677750020.

rs1456777500 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:47834652 (GRCh38)
2:48061791 (GRCh37)
Canonical SPDI:: NC_000002.12:47834651:A:G
Gene:: FBXO11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.47834652A>G, NC_000002.11:g.48061791A>G, NG_008397.1:g.76024T>C, NM_025133.4:c.609T>C, NM_001190274.2:c.861T>C, NM_001190274.1:c.861T>C, NM_001374325.1:c.609T>C, XM_005264572.6:c.861T>C, XM_005264572.5:c.861T>C, XM_005264572.4:c.861T>C, XM_005264572.3:c.861T>C, XM_005264572.2:c.861T>C, XM_005264572.1:c.861T>C, XM_005264573.6:c.858T>C, XM_005264573.5:c.858T>C, XM_005264573.4:c.858T>C, XM_005264573.3:c.858T>C, XM_005264573.2:c.858T>C, XM_005264573.1:c.858T>C, XM_017005016.3:c.609T>C, XM_017005016.2:c.609T>C, XM_017005016.1:c.609T>C, XM_017005015.2:c.858T>C, XM_017005015.1:c.858T>C, NM_018693.2:c.609T>C, XM_047445922.1:c.606T>C, XM_047445919.1:c.609T>C, XM_047445920.1:c.606T>C, XM_047445921.1:c.609T>C, NM_012167.1:c.609T>C

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