SNP Links for Protein (Select 41872631) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82089698 (GRCh38)
17:80047574 (GRCh37)
Canonical SPDI:: NC_000017.11:82089697:G:A
Gene:: FASN (Varview), SNORD134 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82089698G>A, NC_000017.10:g.80047574G>A, NM_004104.5:c.1899C>T, NM_004104.4:c.1899C>T, XM_011523538.3:c.1899C>T, XM_011523538.2:c.1899C>T, XM_011523538.1:c.1899C>T

Select item 14893128676.

rs1489312867 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:82090979 (GRCh38)
17:80048855 (GRCh37)
Canonical SPDI:: NC_000017.11:82090978:T:C
Gene:: FASN (Varview), SNORD134 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82090979T>C, NC_000017.10:g.80048855T>C, NM_004104.5:c.1583A>G, NM_004104.4:c.1583A>G, XM_011523538.3:c.1583A>G, XM_011523538.2:c.1583A>G, XM_011523538.1:c.1583A>G, NP_004095.4:p.Lys528Arg, XP_011521840.1:p.Lys528Arg

Select item 14888995517.

rs1488899551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:82081788 (GRCh38)
17:80039664 (GRCh37)
Canonical SPDI:: NC_000017.11:82081787:C:G
Gene:: FASN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000169/2 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.82081788C>G, NC_000017.10:g.80039664C>G, NM_004104.5:c.6219G>C, NM_004104.4:c.6219G>C, XM_011523538.3:c.6219G>C, XM_011523538.2:c.6219G>C, XM_011523538.1:c.6219G>C, NP_004095.4:p.Met2073Ile, XP_011521840.1:p.Met2073Ile

Select item 14887375198.

rs1488737519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:82080473 (GRCh38)
17:80038349 (GRCh37)
Canonical SPDI:: NC_000017.11:82080472:A:C
Gene:: FASN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.82080473A>C, NC_000017.10:g.80038349A>C, NM_004104.5:c.6944T>G, NM_004104.4:c.6944T>G, XM_011523538.3:c.6944T>G, XM_011523538.2:c.6944T>G, XM_011523538.1:c.6944T>G, NP_004095.4:p.Phe2315Cys, XP_011521840.1:p.Phe2315Cys

Select item 14884432869.

rs1488443286 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:82083987 (GRCh38)
17:80041863 (GRCh37)
Canonical SPDI:: NC_000017.11:82083986:A:G
Gene:: FASN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82083987A>G, NC_000017.10:g.80041863A>G, NM_004104.5:c.5086T>C, NM_004104.4:c.5086T>C, XM_011523538.3:c.5086T>C, XM_011523538.2:c.5086T>C, XM_011523538.1:c.5086T>C, NP_004095.4:p.Phe1696Leu, XP_011521840.1:p.Phe1696Leu

Select item 148835361310.

rs1488353613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82084695 (GRCh38)
17:80042571 (GRCh37)
Canonical SPDI:: NC_000017.11:82084694:G:A
Gene:: FASN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000028/5 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82084695G>A, NC_000017.10:g.80042571G>A, NM_004104.5:c.4586C>T, NM_004104.4:c.4586C>T, XM_011523538.3:c.4586C>T, XM_011523538.2:c.4586C>T, XM_011523538.1:c.4586C>T, NP_004095.4:p.Ala1529Val, XP_011521840.1:p.Ala1529Val

Select item 148798862911.

rs1487988629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82091394 (GRCh38)
17:80049270 (GRCh37)
Canonical SPDI:: NC_000017.11:82091393:C:T
Gene:: FASN (Varview), SNORD134 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82091394C>T, NC_000017.10:g.80049270C>T, NM_004104.5:c.1320G>A, NM_004104.4:c.1320G>A, XM_011523538.3:c.1320G>A, XM_011523538.2:c.1320G>A, XM_011523538.1:c.1320G>A

Select item 148778055812.

rs1487780558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82085764 (GRCh38)
17:80043640 (GRCh37)
Canonical SPDI:: NC_000017.11:82085763:C:T
Gene:: FASN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82085764C>T, NC_000017.10:g.80043640C>T, NM_004104.5:c.3840G>A, NM_004104.4:c.3840G>A, XM_011523538.3:c.3840G>A, XM_011523538.2:c.3840G>A, XM_011523538.1:c.3840G>A

Select item 148681797013.

rs1486817970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82082141 (GRCh38)
17:80040017 (GRCh37)
Canonical SPDI:: NC_000017.11:82082140:G:A
Gene:: FASN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.82082141G>A, NC_000017.10:g.80040017G>A, NM_004104.5:c.6031C>T, NM_004104.4:c.6031C>T, XM_011523538.3:c.6031C>T, XM_011523538.2:c.6031C>T, XM_011523538.1:c.6031C>T, NP_004095.4:p.Pro2011Ser, XP_011521840.1:p.Pro2011Ser

Select item 148598840414.

rs1485988404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:82085256 (GRCh38)
17:80043132 (GRCh37)
Canonical SPDI:: NC_000017.11:82085255:G:C,NC_000017.11:82085255:G:T
Gene:: FASN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.82085256G>C, NC_000017.11:g.82085256G>T, NC_000017.10:g.80043132G>C, NC_000017.10:g.80043132G>T, NM_004104.5:c.4269C>G, NM_004104.5:c.4269C>A, NM_004104.4:c.4269C>G, NM_004104.4:c.4269C>A, XM_011523538.3:c.4269C>G, XM_011523538.3:c.4269C>A, XM_011523538.2:c.4269C>G, XM_011523538.2:c.4269C>A, XM_011523538.1:c.4269C>G, XM_011523538.1:c.4269C>A

Select item 148555965415.

rs1485559654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:82087344 (GRCh38)
17:80045220 (GRCh37)
Canonical SPDI:: NC_000017.11:82087343:T:C
Gene:: FASN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82087344T>C, NC_000017.10:g.80045220T>C, NM_004104.5:c.3204A>G, NM_004104.4:c.3204A>G, XM_011523538.3:c.3204A>G, XM_011523538.2:c.3204A>G, XM_011523538.1:c.3204A>G

Select item 148525170016.

rs1485251700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82088775 (GRCh38)
17:80046651 (GRCh37)
Canonical SPDI:: NC_000017.11:82088774:C:T
Gene:: FASN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82088775C>T, NC_000017.10:g.80046651C>T, NM_004104.5:c.2406G>A, NM_004104.4:c.2406G>A, XM_011523538.3:c.2406G>A, XM_011523538.2:c.2406G>A, XM_011523538.1:c.2406G>A

Select item 148516862217.

rs1485168622 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:82081675 (GRCh38)
17:80039551 (GRCh37)
Canonical SPDI:: NC_000017.11:82081674:A:C
Gene:: FASN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82081675A>C, NC_000017.10:g.80039551A>C, NM_004104.5:c.6332T>G, NM_004104.4:c.6332T>G, XM_011523538.3:c.6332T>G, XM_011523538.2:c.6332T>G, XM_011523538.1:c.6332T>G, NP_004095.4:p.Leu2111Arg, XP_011521840.1:p.Leu2111Arg

Select item 148504723318.

rs1485047233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:82082642 (GRCh38)
17:80040518 (GRCh37)
Canonical SPDI:: NC_000017.11:82082641:T:A,NC_000017.11:82082641:T:C
Gene:: FASN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82082642T>A, NC_000017.11:g.82082642T>C, NC_000017.10:g.80040518T>A, NC_000017.10:g.80040518T>C, NM_004104.5:c.5804A>T, NM_004104.5:c.5804A>G, NM_004104.4:c.5804A>T, NM_004104.4:c.5804A>G, XM_011523538.3:c.5804A>T, XM_011523538.3:c.5804A>G, XM_011523538.2:c.5804A>T, XM_011523538.2:c.5804A>G, XM_011523538.1:c.5804A>T, XM_011523538.1:c.5804A>G, NP_004095.4:p.Gln1935Leu, NP_004095.4:p.Gln1935Arg, XP_011521840.1:p.Gln1935Leu, XP_011521840.1:p.Gln1935Arg

Select item 148471687719.

rs1484716877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82082391 (GRCh38)
17:80040267 (GRCh37)
Canonical SPDI:: NC_000017.11:82082390:C:T
Gene:: FASN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82082391C>T, NC_000017.10:g.80040267C>T, NM_004104.5:c.5943G>A, NM_004104.4:c.5943G>A, XM_011523538.3:c.5943G>A, XM_011523538.2:c.5943G>A, XM_011523538.1:c.5943G>A

Select item 148447410120.

rs1484474101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82086454 (GRCh38)
17:80044330 (GRCh37)
Canonical SPDI:: NC_000017.11:82086453:G:A
Gene:: FASN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.82086454G>A, NC_000017.10:g.80044330G>A, NM_004104.5:c.3532C>T, NM_004104.4:c.3532C>T, XM_011523538.3:c.3532C>T, XM_011523538.2:c.3532C>T, XM_011523538.1:c.3532C>T

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