SNP Links for Protein (Select 767998371) - SNP

Select item 14889442871.

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 14888668092.

rs1488866809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 18:74140262 (GRCh38)
18:71807497 (GRCh37)
Canonical SPDI:: NC_000018.10:74140261:T:C,NC_000018.10:74140261:T:G
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.74140262T>C, NC_000018.10:g.74140262T>G, NC_000018.9:g.71807497T>C, NC_000018.9:g.71807497T>G, XM_017025604.3:c.-62A>G, XM_017025604.3:c.-62A>C, XM_017025604.2:c.-62A>G, XM_017025604.2:c.-62A>C, XM_017025604.1:c.-62A>G, XM_017025604.1:c.-62A>C, NM_152676.3:c.-62A>G, NM_152676.3:c.-62A>C, NM_152676.2:c.-62A>G, NM_152676.2:c.-62A>C, XM_011525858.2:c.167A>G, XM_011525858.2:c.167A>C, XM_011525858.1:c.167A>G, XM_011525858.1:c.167A>C, NM_001142958.2:c.167A>G, NM_001142958.2:c.167A>C, NM_001142958.1:c.167A>G, NM_001142958.1:c.167A>C, XM_024451099.2:c.167A>G, XM_024451099.2:c.167A>C, XM_024451099.1:c.167A>G, XM_024451099.1:c.167A>C, XM_011525856.2:c.167A>G, XM_011525856.2:c.167A>C, XM_011525856.1:c.167A>G, XM_011525856.1:c.167A>C, XM_047437341.1:c.-62A>G, XM_047437341.1:c.-62A>C, XM_047437342.1:c.-62A>G, XM_047437342.1:c.-62A>C, XM_047437343.1:c.167A>G, XM_047437343.1:c.167A>C, XM_011525860.1:c.167A>G, XM_011525860.1:c.167A>C, XP_011524160.1:p.His56Arg, XP_011524160.1:p.His56Pro, NP_001136430.1:p.His56Arg, NP_001136430.1:p.His56Pro, XP_024306867.1:p.His56Arg, XP_024306867.1:p.His56Pro, XP_011524158.1:p.His56Arg, XP_011524158.1:p.His56Pro, XP_047293299.1:p.His56Arg, XP_047293299.1:p.His56Pro, XP_011524162.1:p.His56Arg, XP_011524162.1:p.His56Pro

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 14869826044.

rs1486982604 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:74147706 (GRCh38)
18:71814941 (GRCh37)
Canonical SPDI:: NC_000018.10:74147705:C:T
Gene:: TIMM21 (Varview), FBXO15 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74147706C>T, NC_000018.9:g.71814941C>T, NM_152676.3:c.-278G>A, NM_152676.2:c.-278G>A, XM_011525858.2:c.80G>A, XM_011525858.1:c.80G>A, NM_001142958.2:c.80G>A, NM_001142958.1:c.80G>A, XM_024451099.2:c.80G>A, XM_024451099.1:c.80G>A, XM_011525856.2:c.80G>A, XM_011525856.1:c.80G>A, XM_047437341.1:c.-7085G>A, XM_047437343.1:c.80G>A, XM_011525860.1:c.80G>A, XP_011524160.1:p.Gly27Asp, NP_001136430.1:p.Gly27Asp, XP_024306867.1:p.Gly27Asp, XP_011524158.1:p.Gly27Asp, XP_047293299.1:p.Gly27Asp, XP_011524162.1:p.Gly27Asp

Select item 14866269005.

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 14861761156.

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 14851887957.

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 14816771188.

rs1481677118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:74140218 (GRCh38)
18:71807453 (GRCh37)
Canonical SPDI:: NC_000018.10:74140217:A:G
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.74140218A>G, NC_000018.9:g.71807453A>G, XM_017025604.3:c.-18T>C, XM_017025604.2:c.-18T>C, XM_017025604.1:c.-18T>C, NM_152676.3:c.-18T>C, NM_152676.2:c.-18T>C, XM_011525858.2:c.211T>C, XM_011525858.1:c.211T>C, NM_001142958.2:c.211T>C, NM_001142958.1:c.211T>C, XM_024451099.2:c.211T>C, XM_024451099.1:c.211T>C, XM_011525856.2:c.211T>C, XM_011525856.1:c.211T>C, XM_047437341.1:c.-18T>C, XM_047437342.1:c.-18T>C, XM_047437343.1:c.211T>C, XM_011525860.1:c.211T>C, XP_011524160.1:p.Ser71Pro, NP_001136430.1:p.Ser71Pro, XP_024306867.1:p.Ser71Pro, XP_011524158.1:p.Ser71Pro, XP_047293299.1:p.Ser71Pro, XP_011524162.1:p.Ser71Pro

Select item 14780652939.

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 146954559910.

rs1469545599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:74147759 (GRCh38)
18:71814994 (GRCh37)
Canonical SPDI:: NC_000018.10:74147758:C:G
Gene:: TIMM21 (Varview), FBXO15 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.74147759C>G, NC_000018.9:g.71814994C>G, NM_152676.3:c.-331G>C, NM_152676.2:c.-331G>C, XM_011525858.2:c.27G>C, XM_011525858.1:c.27G>C, NM_001142958.2:c.27G>C, NM_001142958.1:c.27G>C, XM_024451099.2:c.27G>C, XM_024451099.1:c.27G>C, XM_011525856.2:c.27G>C, XM_011525856.1:c.27G>C, XM_047437341.1:c.-7138G>C, XM_047437343.1:c.27G>C, XM_011525860.1:c.27G>C, XP_011524160.1:p.Leu9Phe, NP_001136430.1:p.Leu9Phe, XP_024306867.1:p.Leu9Phe, XP_011524158.1:p.Leu9Phe, XP_047293299.1:p.Leu9Phe, XP_011524162.1:p.Leu9Phe

Select item 146891954011.

rs1468919540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:74147753 (GRCh38)
18:71814988 (GRCh37)
Canonical SPDI:: NC_000018.10:74147752:C:G,NC_000018.10:74147752:C:T
Gene:: TIMM21 (Varview), FBXO15 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.74147753C>G, NC_000018.10:g.74147753C>T, NC_000018.9:g.71814988C>G, NC_000018.9:g.71814988C>T, NM_152676.3:c.-325G>C, NM_152676.3:c.-325G>A, NM_152676.2:c.-325G>C, NM_152676.2:c.-325G>A, XM_011525858.2:c.33G>C, XM_011525858.2:c.33G>A, XM_011525858.1:c.33G>C, XM_011525858.1:c.33G>A, NM_001142958.2:c.33G>C, NM_001142958.2:c.33G>A, NM_001142958.1:c.33G>C, NM_001142958.1:c.33G>A, XM_024451099.2:c.33G>C, XM_024451099.2:c.33G>A, XM_024451099.1:c.33G>C, XM_024451099.1:c.33G>A, XM_011525856.2:c.33G>C, XM_011525856.2:c.33G>A, XM_011525856.1:c.33G>C, XM_011525856.1:c.33G>A, XM_047437341.1:c.-7132G>C, XM_047437341.1:c.-7132G>A, XM_047437343.1:c.33G>C, XM_047437343.1:c.33G>A, XM_011525860.1:c.33G>C, XM_011525860.1:c.33G>A, XP_011524160.1:p.Gln11His, NP_001136430.1:p.Gln11His, XP_024306867.1:p.Gln11His, XP_011524158.1:p.Gln11His, XP_047293299.1:p.Gln11His, XP_011524162.1:p.Gln11His

Select item 146849170512.

rs1468491705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 18:74128732 (GRCh38)
18:71795967 (GRCh37)
Canonical SPDI:: NC_000018.10:74128731:C:A,NC_000018.10:74128731:C:G
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000036/5 (GnomAD)
HGVS:: NC_000018.10:g.74128732C>A, NC_000018.10:g.74128732C>G, NC_000018.9:g.71795967C>A, NC_000018.9:g.71795967C>G, XM_011525858.2:c.830G>T, XM_011525858.2:c.830G>C, XM_011525858.1:c.830G>T, XM_011525858.1:c.830G>C, XP_011524160.1:p.Cys277Phe, XP_011524160.1:p.Cys277Ser

Select item 146777819513.

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 145777144214.

rs1457771442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:74140290 (GRCh38)
18:71807525 (GRCh37)
Canonical SPDI:: NC_000018.10:74140289:A:G
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74140290A>G, NC_000018.9:g.71807525A>G, XM_017025604.3:c.-90T>C, XM_017025604.2:c.-90T>C, XM_017025604.1:c.-90T>C, NM_152676.3:c.-90T>C, NM_152676.2:c.-90T>C, XM_011525858.2:c.139T>C, XM_011525858.1:c.139T>C, NM_001142958.2:c.139T>C, NM_001142958.1:c.139T>C, XM_024451099.2:c.139T>C, XM_024451099.1:c.139T>C, XM_011525856.2:c.139T>C, XM_011525856.1:c.139T>C, XM_047437341.1:c.-90T>C, XM_047437342.1:c.-90T>C, XM_047437343.1:c.139T>C, XM_011525860.1:c.139T>C, XP_011524160.1:p.Ser47Pro, NP_001136430.1:p.Ser47Pro, XP_024306867.1:p.Ser47Pro, XP_011524158.1:p.Ser47Pro, XP_047293299.1:p.Ser47Pro, XP_011524162.1:p.Ser47Pro

Select item 145632285615.

rs1456322856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:74129606 (GRCh38)
18:71796841 (GRCh37)
Canonical SPDI:: NC_000018.10:74129605:C:T
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74129606C>T, NC_000018.9:g.71796841C>T, XM_017025604.3:c.356G>A, XM_017025604.2:c.356G>A, XM_017025604.1:c.356G>A, NM_152676.3:c.356G>A, NM_152676.2:c.356G>A, XM_011525858.2:c.584G>A, XM_011525858.1:c.584G>A, NM_001142958.2:c.584G>A, NM_001142958.1:c.584G>A, XM_024451099.2:c.584G>A, XM_024451099.1:c.584G>A, XM_047437341.1:c.356G>A, XM_047437342.1:c.356G>A, XM_047437343.1:c.584G>A, XM_011525860.1:c.584G>A, XP_016881093.1:p.Gly119Asp, NP_689889.1:p.Gly119Asp, XP_011524160.1:p.Gly195Asp, NP_001136430.1:p.Gly195Asp, XP_024306867.1:p.Gly195Asp, XP_047293297.1:p.Gly119Asp, XP_047293298.1:p.Gly119Asp, XP_047293299.1:p.Gly195Asp, XP_011524162.1:p.Gly195Asp

Select item 145511645016.

rs1455116450 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:74140295 (GRCh38)
18:71807530 (GRCh37)
Canonical SPDI:: NC_000018.10:74140294:T:G
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.74140295T>G, NC_000018.9:g.71807530T>G, XM_017025604.3:c.-95A>C, XM_017025604.2:c.-95A>C, XM_017025604.1:c.-95A>C, NM_152676.3:c.-95A>C, NM_152676.2:c.-95A>C, XM_011525858.2:c.134A>C, XM_011525858.1:c.134A>C, NM_001142958.2:c.134A>C, NM_001142958.1:c.134A>C, XM_024451099.2:c.134A>C, XM_024451099.1:c.134A>C, XM_011525856.2:c.134A>C, XM_011525856.1:c.134A>C, XM_047437341.1:c.-95A>C, XM_047437342.1:c.-95A>C, XM_047437343.1:c.134A>C, XM_011525860.1:c.134A>C, XP_011524160.1:p.Lys45Thr, NP_001136430.1:p.Lys45Thr, XP_024306867.1:p.Lys45Thr, XP_011524158.1:p.Lys45Thr, XP_047293299.1:p.Lys45Thr, XP_011524162.1:p.Lys45Thr

Select item 144482110517.

rs1444821105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:74129570 (GRCh38)
18:71796805 (GRCh37)
Canonical SPDI:: NC_000018.10:74129569:C:A
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74129570C>A, NC_000018.9:g.71796805C>A, XM_017025604.3:c.392G>T, XM_017025604.2:c.392G>T, XM_017025604.1:c.392G>T, NM_152676.3:c.392G>T, NM_152676.2:c.392G>T, XM_011525858.2:c.620G>T, XM_011525858.1:c.620G>T, NM_001142958.2:c.620G>T, NM_001142958.1:c.620G>T, XM_024451099.2:c.620G>T, XM_024451099.1:c.620G>T, XM_047437341.1:c.392G>T, XM_047437342.1:c.392G>T, XM_047437343.1:c.620G>T, XM_011525860.1:c.620G>T, XP_016881093.1:p.Gly131Val, NP_689889.1:p.Gly131Val, XP_011524160.1:p.Gly207Val, NP_001136430.1:p.Gly207Val, XP_024306867.1:p.Gly207Val, XP_047293297.1:p.Gly131Val, XP_047293298.1:p.Gly131Val, XP_047293299.1:p.Gly207Val, XP_011524162.1:p.Gly207Val

Select item 144460796818.

rs1444607968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:74140301 (GRCh38)
18:71807536 (GRCh37)
Canonical SPDI:: NC_000018.10:74140300:C:T
Gene:: FBXO15 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_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_000018.10:g.74140301C>T, NC_000018.9:g.71807536C>T, XM_017025604.3:c.-101G>A, XM_017025604.2:c.-101G>A, XM_017025604.1:c.-101G>A, NM_152676.3:c.-101G>A, NM_152676.2:c.-101G>A, XM_011525858.2:c.128G>A, XM_011525858.1:c.128G>A, NM_001142958.2:c.128G>A, NM_001142958.1:c.128G>A, XM_024451099.2:c.128G>A, XM_024451099.1:c.128G>A, XM_011525856.2:c.128G>A, XM_011525856.1:c.128G>A, XM_047437341.1:c.-101G>A, XM_047437342.1:c.-101G>A, XM_047437343.1:c.128G>A, XM_011525860.1:c.128G>A, XP_011524160.1:p.Gly43Glu, NP_001136430.1:p.Gly43Glu, XP_024306867.1:p.Gly43Glu, XP_011524158.1:p.Gly43Glu, XP_047293299.1:p.Gly43Glu, XP_011524162.1:p.Gly43Glu

Select item 144247826019.

rs1442478260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:74147739 (GRCh38)
18:71814974 (GRCh37)
Canonical SPDI:: NC_000018.10:74147738:A:G
Gene:: TIMM21 (Varview), FBXO15 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000034/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.74147739A>G, NC_000018.9:g.71814974A>G, NM_152676.3:c.-311T>C, NM_152676.2:c.-311T>C, XM_011525858.2:c.47T>C, XM_011525858.1:c.47T>C, NM_001142958.2:c.47T>C, NM_001142958.1:c.47T>C, XM_024451099.2:c.47T>C, XM_024451099.1:c.47T>C, XM_011525856.2:c.47T>C, XM_011525856.1:c.47T>C, XM_047437341.1:c.-7118T>C, XM_047437343.1:c.47T>C, XM_011525860.1:c.47T>C, XP_011524160.1:p.Leu16Pro, NP_001136430.1:p.Leu16Pro, XP_024306867.1:p.Leu16Pro, XP_011524158.1:p.Leu16Pro, XP_047293299.1:p.Leu16Pro, XP_011524162.1:p.Leu16Pro

Select item 143575567520.

rs1435755675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:74135847 (GRCh38)
18:71803082 (GRCh37)
Canonical SPDI:: NC_000018.10:74135846:G:A
Gene:: FBXO15 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000018.10:g.74135847G>A, NC_000018.9:g.71803082G>A, XM_017025604.3:c.19C>T, XM_017025604.2:c.19C>T, XM_017025604.1:c.19C>T, NM_152676.3:c.19C>T, NM_152676.2:c.19C>T, XM_011525858.2:c.247C>T, XM_011525858.1:c.247C>T, NM_001142958.2:c.247C>T, NM_001142958.1:c.247C>T, XM_024451099.2:c.247C>T, XM_024451099.1:c.247C>T, XM_011525856.2:c.247C>T, XM_011525856.1:c.247C>T, XM_047437341.1:c.19C>T, XM_047437342.1:c.19C>T, XM_047437343.1:c.247C>T, XM_011525860.1:c.247C>T

dbSNP

Result Filters

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 280

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 280

Page of 14

Page of 14

Display Settings:

Supplemental Content

Find related data

Recent activity