SNP Links for Protein (Select 1034603577) - SNP

Links from Protein

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Select item 14895770321.

rs1489577032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:74124550 (GRCh38)
18:71791785 (GRCh37)
Canonical SPDI:: NC_000018.10:74124549:C:A
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.74124550C>A, NC_000018.9:g.71791785C>A, XM_017025604.3:c.706G>T, XM_017025604.2:c.706G>T, XM_017025604.1:c.706G>T, NM_152676.3:c.706G>T, NM_152676.2:c.706G>T, NM_001142958.2:c.934G>T, NM_001142958.1:c.934G>T, XM_024451099.2:c.934G>T, XM_024451099.1:c.934G>T, XM_011525856.2:c.724G>T, XM_011525856.1:c.724G>T, XM_047437341.1:c.706G>T, XM_047437342.1:c.706G>T, XM_047437343.1:c.807G>T, XP_016881093.1:p.Val236Phe, NP_689889.1:p.Val236Phe, NP_001136430.1:p.Val312Phe, XP_024306867.1:p.Val312Phe, XP_011524158.1:p.Val242Phe, XP_047293297.1:p.Val236Phe, XP_047293298.1:p.Val236Phe, XP_047293299.1:p.Leu269Phe

Select item 14889442872.

rs1488944287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:74130540 (GRCh38)
18:71797775 (GRCh37)
Canonical SPDI:: NC_000018.10:74130539:C:A
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74130540C>A, NC_000018.9:g.71797775C>A, XM_017025604.3:c.223G>T, XM_017025604.2:c.223G>T, XM_017025604.1:c.223G>T, NM_152676.3:c.223G>T, NM_152676.2:c.223G>T, XM_011525858.2:c.451G>T, XM_011525858.1:c.451G>T, NM_001142958.2:c.451G>T, NM_001142958.1:c.451G>T, XM_024451099.2:c.451G>T, XM_024451099.1:c.451G>T, XM_011525856.2:c.451G>T, XM_011525856.1:c.451G>T, XM_047437341.1:c.223G>T, XM_047437342.1:c.223G>T, XM_047437343.1:c.451G>T, XM_011525860.1:c.451G>T, XP_016881093.1:p.Ala75Ser, NP_689889.1:p.Ala75Ser, XP_011524160.1:p.Ala151Ser, NP_001136430.1:p.Ala151Ser, XP_024306867.1:p.Ala151Ser, XP_011524158.1:p.Ala151Ser, XP_047293297.1:p.Ala75Ser, XP_047293298.1:p.Ala75Ser, XP_047293299.1:p.Ala151Ser, XP_011524162.1:p.Ala151Ser

Select item 14873481873.

rs1487348187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:74135848 (GRCh38)
18:71803083 (GRCh37)
Canonical SPDI:: NC_000018.10:74135847:C:T
Gene:: FBXO15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.74135848C>T, NC_000018.9:g.71803083C>T, XM_017025604.3:c.18G>A, XM_017025604.2:c.18G>A, XM_017025604.1:c.18G>A, NM_152676.3:c.18G>A, NM_152676.2:c.18G>A, XM_011525858.2:c.246G>A, XM_011525858.1:c.246G>A, NM_001142958.2:c.246G>A, NM_001142958.1:c.246G>A, XM_024451099.2:c.246G>A, XM_024451099.1:c.246G>A, XM_011525856.2:c.246G>A, XM_011525856.1:c.246G>A, XM_047437341.1:c.18G>A, XM_047437342.1:c.18G>A, XM_047437343.1:c.246G>A, XM_011525860.1:c.246G>A

Select item 14866269004.

rs1486626900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:74135785 (GRCh38)
18:71803020 (GRCh37)
Canonical SPDI:: NC_000018.10:74135784:G:A
Gene:: FBXO15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0049/9 (Korea1K)
HGVS:: NC_000018.10:g.74135785G>A, NC_000018.9:g.71803020G>A, XM_017025604.3:c.81C>T, XM_017025604.2:c.81C>T, XM_017025604.1:c.81C>T, NM_152676.3:c.81C>T, NM_152676.2:c.81C>T, XM_011525858.2:c.309C>T, XM_011525858.1:c.309C>T, NM_001142958.2:c.309C>T, NM_001142958.1:c.309C>T, XM_024451099.2:c.309C>T, XM_024451099.1:c.309C>T, XM_011525856.2:c.309C>T, XM_011525856.1:c.309C>T, XM_047437341.1:c.81C>T, XM_047437342.1:c.81C>T, XM_047437343.1:c.309C>T, XM_011525860.1:c.309C>T

Select item 14861761155.

rs1486176115 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:74130474 (GRCh38)
18:71797709 (GRCh37)
Canonical SPDI:: NC_000018.10:74130473:T:C
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000018.10:g.74130474T>C, NC_000018.9:g.71797709T>C, XM_017025604.3:c.289A>G, XM_017025604.2:c.289A>G, XM_017025604.1:c.289A>G, NM_152676.3:c.289A>G, NM_152676.2:c.289A>G, XM_011525858.2:c.517A>G, XM_011525858.1:c.517A>G, NM_001142958.2:c.517A>G, NM_001142958.1:c.517A>G, XM_024451099.2:c.517A>G, XM_024451099.1:c.517A>G, XM_011525856.2:c.517A>G, XM_011525856.1:c.517A>G, XM_047437341.1:c.289A>G, XM_047437342.1:c.289A>G, XM_047437343.1:c.517A>G, XM_011525860.1:c.517A>G, XP_016881093.1:p.Ile97Val, NP_689889.1:p.Ile97Val, XP_011524160.1:p.Ile173Val, NP_001136430.1:p.Ile173Val, XP_024306867.1:p.Ile173Val, XP_011524158.1:p.Ile173Val, XP_047293297.1:p.Ile97Val, XP_047293298.1:p.Ile97Val, XP_047293299.1:p.Ile173Val, XP_011524162.1:p.Ile173Val

Select item 14851887956.

rs1485188795 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 18:74130499 (GRCh38)
18:71797735 (GRCh37)
Canonical SPDI:: NC_000018.10:74130499:G:GG
Gene:: FBXO15 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.74130500dup, NC_000018.9:g.71797735dup, XM_017025604.3:c.263dup, XM_017025604.2:c.263dup, XM_017025604.1:c.263dup, NM_152676.3:c.263dup, NM_152676.2:c.263dup, XM_011525858.2:c.491dup, XM_011525858.1:c.491dup, NM_001142958.2:c.491dup, NM_001142958.1:c.491dup, XM_024451099.2:c.491dup, XM_024451099.1:c.491dup, XM_011525856.2:c.491dup, XM_011525856.1:c.491dup, XM_047437341.1:c.263dup, XM_047437342.1:c.263dup, XM_047437343.1:c.491dup, XM_011525860.1:c.491dup, XP_016881093.1:p.Ser89fs, NP_689889.1:p.Ser89fs, XP_011524160.1:p.Ser165fs, NP_001136430.1:p.Ser165fs, XP_024306867.1:p.Ser165fs, XP_011524158.1:p.Ser165fs, XP_047293297.1:p.Ser89fs, XP_047293298.1:p.Ser89fs, XP_047293299.1:p.Ser165fs, XP_011524162.1:p.Ser165fs

Select item 14843761487.

rs1484376148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:74082020 (GRCh38)
18:71749255 (GRCh37)
Canonical SPDI:: NC_000018.10:74082019:A:G
Gene:: FBXO15 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74082020A>G, NC_000018.9:g.71749255A>G, XM_017025604.3:c.942T>C, XM_017025604.2:c.942T>C, XM_017025604.1:c.942T>C, NM_152676.3:c.942T>C, NM_152676.2:c.942T>C, NM_001142958.2:c.1170T>C, NM_001142958.1:c.1170T>C, XM_011525856.2:c.960T>C, XM_011525856.1:c.960T>C, XM_047437341.1:c.942T>C, XM_047437342.1:c.942T>C, XM_011525860.1:c.*22T>C

Select item 14832767348.

rs1483276734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:74123503 (GRCh38)
18:71790738 (GRCh37)
Canonical SPDI:: NC_000018.10:74123502:C:A
Gene:: FBXO15 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74123503C>A, NC_000018.9:g.71790738C>A, XM_017025604.3:c.775G>T, XM_017025604.2:c.775G>T, XM_017025604.1:c.775G>T, NM_152676.3:c.775G>T, NM_152676.2:c.775G>T, NM_001142958.2:c.1003G>T, NM_001142958.1:c.1003G>T, XM_024451099.2:c.1003G>T, XM_024451099.1:c.1003G>T, XM_011525856.2:c.793G>T, XM_011525856.1:c.793G>T, XM_047437341.1:c.775G>T, XM_047437342.1:c.775G>T, XP_016881093.1:p.Glu259Ter, NP_689889.1:p.Glu259Ter, NP_001136430.1:p.Glu335Ter, XP_024306867.1:p.Glu335Ter, XP_011524158.1:p.Glu265Ter, XP_047293297.1:p.Glu259Ter, XP_047293298.1:p.Glu259Ter

Select item 14809533869.

rs1480953386 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:74073603 (GRCh38)
18:71740838 (GRCh37)
Canonical SPDI:: NC_000018.10:74073602:T:C
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74073603T>C, NC_000018.9:g.71740838T>C, XM_017025604.3:c.1163A>G, XM_017025604.2:c.1163A>G, XM_017025604.1:c.1163A>G, NM_152676.3:c.1163A>G, NM_152676.2:c.1163A>G, NM_001142958.2:c.1391A>G, NM_001142958.1:c.1391A>G, XM_011525856.2:c.1181A>G, XM_011525856.1:c.1181A>G, XM_047437341.1:c.1163A>G, XM_047437342.1:c.1163A>G, XP_016881093.1:p.Tyr388Cys, NP_689889.1:p.Tyr388Cys, NP_001136430.1:p.Tyr464Cys, XP_011524158.1:p.Tyr394Cys, XP_047293297.1:p.Tyr388Cys, XP_047293298.1:p.Tyr388Cys

Select item 147997447910.

rs1479974479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:74082034 (GRCh38)
18:71749269 (GRCh37)
Canonical SPDI:: NC_000018.10:74082033:G:A
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74082034G>A, NC_000018.9:g.71749269G>A, XM_017025604.3:c.928C>T, XM_017025604.2:c.928C>T, XM_017025604.1:c.928C>T, NM_152676.3:c.928C>T, NM_152676.2:c.928C>T, NM_001142958.2:c.1156C>T, NM_001142958.1:c.1156C>T, XM_011525856.2:c.946C>T, XM_011525856.1:c.946C>T, XM_047437341.1:c.928C>T, XM_047437342.1:c.928C>T, XM_011525860.1:c.*8C>T, XP_016881093.1:p.His310Tyr, NP_689889.1:p.His310Tyr, NP_001136430.1:p.His386Tyr, XP_011524158.1:p.His316Tyr, XP_047293297.1:p.His310Tyr, XP_047293298.1:p.His310Tyr

Select item 147806529311.

rs1478065293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:74135792 (GRCh38)
18:71803027 (GRCh37)
Canonical SPDI:: NC_000018.10:74135791:C:T
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74135792C>T, NC_000018.9:g.71803027C>T, XM_017025604.3:c.74G>A, XM_017025604.2:c.74G>A, XM_017025604.1:c.74G>A, NM_152676.3:c.74G>A, NM_152676.2:c.74G>A, XM_011525858.2:c.302G>A, XM_011525858.1:c.302G>A, NM_001142958.2:c.302G>A, NM_001142958.1:c.302G>A, XM_024451099.2:c.302G>A, XM_024451099.1:c.302G>A, XM_011525856.2:c.302G>A, XM_011525856.1:c.302G>A, XM_047437341.1:c.74G>A, XM_047437342.1:c.74G>A, XM_047437343.1:c.302G>A, XM_011525860.1:c.302G>A, XP_016881093.1:p.Ser25Asn, NP_689889.1:p.Ser25Asn, XP_011524160.1:p.Ser101Asn, NP_001136430.1:p.Ser101Asn, XP_024306867.1:p.Ser101Asn, XP_011524158.1:p.Ser101Asn, XP_047293297.1:p.Ser25Asn, XP_047293298.1:p.Ser25Asn, XP_047293299.1:p.Ser101Asn, XP_011524162.1:p.Ser101Asn

Select item 147477752612.

rs1474777526 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:74073525 (GRCh38)
18:71740760 (GRCh37)
Canonical SPDI:: NC_000018.10:74073524:A:G
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74073525A>G, NC_000018.9:g.71740760A>G, XM_017025604.3:c.1241T>C, XM_017025604.2:c.1241T>C, XM_017025604.1:c.1241T>C, NM_152676.3:c.1241T>C, NM_152676.2:c.1241T>C, NM_001142958.2:c.1469T>C, NM_001142958.1:c.1469T>C, XM_011525856.2:c.1259T>C, XM_011525856.1:c.1259T>C, XM_047437341.1:c.1241T>C, XM_047437342.1:c.1241T>C, XP_016881093.1:p.Ile414Thr, NP_689889.1:p.Ile414Thr, NP_001136430.1:p.Ile490Thr, XP_011524158.1:p.Ile420Thr, XP_047293297.1:p.Ile414Thr, XP_047293298.1:p.Ile414Thr

Select item 147374138213.

rs1473741382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:74126086 (GRCh38)
18:71793321 (GRCh37)
Canonical SPDI:: NC_000018.10:74126085:A:G
Gene:: FBXO15 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74126086A>G, NC_000018.9:g.71793321A>G, XM_017025604.3:c.573T>C, XM_017025604.2:c.573T>C, XM_017025604.1:c.573T>C, NM_152676.3:c.573T>C, NM_152676.2:c.573T>C, NM_001142958.2:c.801T>C, NM_001142958.1:c.801T>C, XM_024451099.2:c.801T>C, XM_024451099.1:c.801T>C, XM_011525856.2:c.591T>C, XM_011525856.1:c.591T>C, XM_047437341.1:c.573T>C, XM_047437342.1:c.573T>C

Select item 147203455314.

rs1472034553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 18:74081940 (GRCh38)
18:71749175 (GRCh37)
Canonical SPDI:: NC_000018.10:74081939:T:C,NC_000018.10:74081939:T:G
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.74081940T>C, NC_000018.10:g.74081940T>G, NC_000018.9:g.71749175T>C, NC_000018.9:g.71749175T>G, XM_017025604.3:c.1022A>G, XM_017025604.3:c.1022A>C, XM_017025604.2:c.1022A>G, XM_017025604.2:c.1022A>C, XM_017025604.1:c.1022A>G, XM_017025604.1:c.1022A>C, NM_152676.3:c.1022A>G, NM_152676.3:c.1022A>C, NM_152676.2:c.1022A>G, NM_152676.2:c.1022A>C, NM_001142958.2:c.1250A>G, NM_001142958.2:c.1250A>C, NM_001142958.1:c.1250A>G, NM_001142958.1:c.1250A>C, XM_011525856.2:c.1040A>G, XM_011525856.2:c.1040A>C, XM_011525856.1:c.1040A>G, XM_011525856.1:c.1040A>C, XM_047437341.1:c.1022A>G, XM_047437341.1:c.1022A>C, XM_047437342.1:c.1022A>G, XM_047437342.1:c.1022A>C, XP_016881093.1:p.Asp341Gly, XP_016881093.1:p.Asp341Ala, NP_689889.1:p.Asp341Gly, NP_689889.1:p.Asp341Ala, NP_001136430.1:p.Asp417Gly, NP_001136430.1:p.Asp417Ala, XP_011524158.1:p.Asp347Gly, XP_011524158.1:p.Asp347Ala, XP_047293297.1:p.Asp341Gly, XP_047293297.1:p.Asp341Ala, XP_047293298.1:p.Asp341Gly, XP_047293298.1:p.Asp341Ala

Select item 146999798715.

rs1469997987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:74073655 (GRCh38)
18:71740890 (GRCh37)
Canonical SPDI:: NC_000018.10:74073654:G:C
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000018.10:g.74073655G>C, NC_000018.9:g.71740890G>C, XM_017025604.3:c.1111C>G, XM_017025604.2:c.1111C>G, XM_017025604.1:c.1111C>G, NM_152676.3:c.1111C>G, NM_152676.2:c.1111C>G, NM_001142958.2:c.1339C>G, NM_001142958.1:c.1339C>G, XM_011525856.2:c.1129C>G, XM_011525856.1:c.1129C>G, XM_047437341.1:c.1111C>G, XM_047437342.1:c.1111C>G, XP_016881093.1:p.Leu371Val, NP_689889.1:p.Leu371Val, NP_001136430.1:p.Leu447Val, XP_011524158.1:p.Leu377Val, XP_047293297.1:p.Leu371Val, XP_047293298.1:p.Leu371Val

Select item 146922570916.

rs1469225709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:74081965 (GRCh38)
18:71749200 (GRCh37)
Canonical SPDI:: NC_000018.10:74081964:G:A
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.74081965G>A, NC_000018.9:g.71749200G>A, XM_017025604.3:c.997C>T, XM_017025604.2:c.997C>T, XM_017025604.1:c.997C>T, NM_152676.3:c.997C>T, NM_152676.2:c.997C>T, NM_001142958.2:c.1225C>T, NM_001142958.1:c.1225C>T, XM_011525856.2:c.1015C>T, XM_011525856.1:c.1015C>T, XM_047437341.1:c.997C>T, XM_047437342.1:c.997C>T, XP_016881093.1:p.Leu333Phe, NP_689889.1:p.Leu333Phe, NP_001136430.1:p.Leu409Phe, XP_011524158.1:p.Leu339Phe, XP_047293297.1:p.Leu333Phe, XP_047293298.1:p.Leu333Phe

Select item 146777819517.

rs1467778195 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGC [Show Flanks]
Chromosome:: 18:74130484 (GRCh38)
18:71797720 (GRCh37)
Canonical SPDI:: NC_000018.10:74130484:GCGGC:GCGGCGGC
Gene:: FBXO15 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGGCGGC=0./0 (ALFA)
GCG=0.000015/4 (TOPMED)
GCG=0.000029/4 (GnomAD)
HGVS:: NC_000018.10:g.74130487_74130489dup, NC_000018.9:g.71797722_71797724dup, XM_017025604.3:c.276_278dup, XM_017025604.2:c.276_278dup, XM_017025604.1:c.276_278dup, NM_152676.3:c.276_278dup, NM_152676.2:c.276_278dup, XM_011525858.2:c.504_506dup, XM_011525858.1:c.504_506dup, NM_001142958.2:c.504_506dup, NM_001142958.1:c.504_506dup, XM_024451099.2:c.504_506dup, XM_024451099.1:c.504_506dup, XM_011525856.2:c.504_506dup, XM_011525856.1:c.504_506dup, XM_047437341.1:c.276_278dup, XM_047437342.1:c.276_278dup, XM_047437343.1:c.504_506dup, XM_011525860.1:c.504_506dup, XP_016881093.1:p.Ala93dup, NP_689889.1:p.Ala93dup, XP_011524160.1:p.Ala169dup, NP_001136430.1:p.Ala169dup, XP_024306867.1:p.Ala169dup, XP_011524158.1:p.Ala169dup, XP_047293297.1:p.Ala93dup, XP_047293298.1:p.Ala93dup, XP_047293299.1:p.Ala169dup, XP_011524162.1:p.Ala169dup

Select item 146597917118.

rs1465979171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:74126094 (GRCh38)
18:71793329 (GRCh37)
Canonical SPDI:: NC_000018.10:74126093:A:G
Gene:: FBXO15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74126094A>G, NC_000018.9:g.71793329A>G, XM_017025604.3:c.565T>C, XM_017025604.2:c.565T>C, XM_017025604.1:c.565T>C, NM_152676.3:c.565T>C, NM_152676.2:c.565T>C, NM_001142958.2:c.793T>C, NM_001142958.1:c.793T>C, XM_024451099.2:c.793T>C, XM_024451099.1:c.793T>C, XM_011525856.2:c.583T>C, XM_011525856.1:c.583T>C, XM_047437341.1:c.565T>C, XM_047437342.1:c.565T>C, XP_016881093.1:p.Trp189Arg, NP_689889.1:p.Trp189Arg, NP_001136430.1:p.Trp265Arg, XP_024306867.1:p.Trp265Arg, XP_011524158.1:p.Trp195Arg, XP_047293297.1:p.Trp189Arg, XP_047293298.1:p.Trp189Arg

Select item 146383499319.

rs1463834993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:74073480 (GRCh38)
18:71740715 (GRCh37)
Canonical SPDI:: NC_000018.10:74073479:C:T
Gene:: FBXO15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74073480C>T, NC_000018.9:g.71740715C>T, XM_017025604.3:c.1286G>A, XM_017025604.2:c.1286G>A, XM_017025604.1:c.1286G>A, NM_152676.3:c.1286G>A, NM_152676.2:c.1286G>A, NM_001142958.2:c.1514G>A, NM_001142958.1:c.1514G>A, XM_011525856.2:c.1304G>A, XM_011525856.1:c.1304G>A, XM_047437341.1:c.1286G>A, XM_047437342.1:c.1286G>A, XP_016881093.1:p.Trp429Ter, NP_689889.1:p.Trp429Ter, NP_001136430.1:p.Trp505Ter, XP_011524158.1:p.Trp435Ter, XP_047293297.1:p.Trp429Ter, XP_047293298.1:p.Trp429Ter

Select item 146144270320.

rs1461442703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:74073512 (GRCh38)
18:71740747 (GRCh37)
Canonical SPDI:: NC_000018.10:74073511:G:A
Gene:: FBXO15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74073512G>A, NC_000018.9:g.71740747G>A, XM_017025604.3:c.1254C>T, XM_017025604.2:c.1254C>T, XM_017025604.1:c.1254C>T, NM_152676.3:c.1254C>T, NM_152676.2:c.1254C>T, NM_001142958.2:c.1482C>T, NM_001142958.1:c.1482C>T, XM_011525856.2:c.1272C>T, XM_011525856.1:c.1272C>T, XM_047437341.1:c.1254C>T, XM_047437342.1:c.1254C>T

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