SNP Links for Protein (Select 510025481) - SNP

Links from Protein

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Select item 14895924461.

rs1489592446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:49207163 (GRCh38)
13:49781299 (GRCh37)
Canonical SPDI:: NC_000013.11:49207162:G:A
Gene:: FNDC3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.49207163G>A, NC_000013.10:g.49781299G>A, NM_014923.5:c.3197G>A, NM_014923.4:c.3197G>A, XM_011534997.4:c.3173G>A, XM_011534997.3:c.3173G>A, XM_011534997.2:c.3173G>A, XM_011534997.1:c.3173G>A, XM_017020440.3:c.3365G>A, XM_017020440.2:c.3365G>A, XM_017020440.1:c.3365G>A, NM_001079673.2:c.3365G>A, NM_001079673.1:c.3365G>A, NM_001278438.2:c.3365G>A, NM_001278438.1:c.3365G>A, NR_103528.2:n.3649G>A, NR_103528.1:n.3702G>A, NP_055738.3:p.Arg1066His, XP_011533299.1:p.Arg1058His, XP_016875929.1:p.Arg1122His, NP_001073141.1:p.Arg1122His, NP_001265367.1:p.Arg1122His

Select item 14888974532.

rs1488897453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:49198455 (GRCh38)
13:49772591 (GRCh37)
Canonical SPDI:: NC_000013.11:49198454:T:G
Gene:: FNDC3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000102/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.49198455T>G, NC_000013.10:g.49772591T>G, NM_014923.5:c.2700T>G, NM_014923.4:c.2700T>G, XM_011534997.4:c.2676T>G, XM_011534997.3:c.2676T>G, XM_011534997.2:c.2676T>G, XM_011534997.1:c.2676T>G, XM_017020440.3:c.2868T>G, XM_017020440.2:c.2868T>G, XM_017020440.1:c.2868T>G, NM_001079673.2:c.2868T>G, NM_001079673.1:c.2868T>G, NM_001278438.2:c.2868T>G, NM_001278438.1:c.2868T>G, NR_103528.2:n.3152T>G, NR_103528.1:n.3205T>G, XM_017020443.2:c.2868T>G, XM_017020443.1:c.2868T>G

Select item 14888501633.

rs1488850163 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:49207088 (GRCh38)
13:49781224 (GRCh37)
Canonical SPDI:: NC_000013.11:49207087:A:G
Gene:: FNDC3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49207088A>G, NC_000013.10:g.49781224A>G, NM_014923.5:c.3122A>G, NM_014923.4:c.3122A>G, XM_011534997.4:c.3098A>G, XM_011534997.3:c.3098A>G, XM_011534997.2:c.3098A>G, XM_011534997.1:c.3098A>G, XM_017020440.3:c.3290A>G, XM_017020440.2:c.3290A>G, XM_017020440.1:c.3290A>G, NM_001079673.2:c.3290A>G, NM_001079673.1:c.3290A>G, NM_001278438.2:c.3290A>G, NM_001278438.1:c.3290A>G, NR_103528.2:n.3574A>G, NR_103528.1:n.3627A>G, NP_055738.3:p.Lys1041Arg, XP_011533299.1:p.Lys1033Arg, XP_016875929.1:p.Lys1097Arg, NP_001073141.1:p.Lys1097Arg, NP_001265367.1:p.Lys1097Arg

Select item 14882667534.

rs1488266753 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:49131149 (GRCh38)
13:49705285 (GRCh37)
Canonical SPDI:: NC_000013.11:49131148:A:C
Gene:: FNDC3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.49131149A>C, NC_000013.10:g.49705285A>C, NM_014923.5:c.97A>C, NM_014923.4:c.97A>C, XM_011534997.4:c.73A>C, XM_011534997.3:c.73A>C, XM_011534997.2:c.73A>C, XM_011534997.1:c.73A>C, XM_017020440.3:c.265A>C, XM_017020440.2:c.265A>C, XM_017020440.1:c.265A>C, NM_001079673.2:c.265A>C, NM_001079673.1:c.265A>C, NM_001278438.2:c.265A>C, NM_001278438.1:c.265A>C, NR_103528.2:n.560A>C, NR_103528.1:n.613A>C, XM_017020443.2:c.265A>C, XM_017020443.1:c.265A>C, NP_055738.3:p.Asn33His, XP_011533299.1:p.Asn25His, XP_016875929.1:p.Asn89His, NP_001073141.1:p.Asn89His, NP_001265367.1:p.Asn89His, XP_016875932.1:p.Asn89His

Select item 14863552025.

rs1486355202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:49191352 (GRCh38)
13:49765488 (GRCh37)
Canonical SPDI:: NC_000013.11:49191351:A:G
Gene:: FNDC3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000016/4 (GnomAD_exomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000013.11:g.49191352A>G, NC_000013.10:g.49765488A>G, NM_014923.5:c.2026A>G, NM_014923.4:c.2026A>G, XM_011534997.4:c.2002A>G, XM_011534997.3:c.2002A>G, XM_011534997.2:c.2002A>G, XM_011534997.1:c.2002A>G, XM_017020440.3:c.2194A>G, XM_017020440.2:c.2194A>G, XM_017020440.1:c.2194A>G, NM_001079673.2:c.2194A>G, NM_001079673.1:c.2194A>G, NM_001278438.2:c.2194A>G, NM_001278438.1:c.2194A>G, NR_103528.2:n.2478A>G, NR_103528.1:n.2531A>G, XM_017020443.2:c.2194A>G, XM_017020443.1:c.2194A>G, NP_055738.3:p.Ser676Gly, XP_011533299.1:p.Ser668Gly, XP_016875929.1:p.Ser732Gly, NP_001073141.1:p.Ser732Gly, NP_001265367.1:p.Ser732Gly, XP_016875932.1:p.Ser732Gly

Select item 14858728716.

rs1485872871 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:49175384 (GRCh38)
13:49749520 (GRCh37)
Canonical SPDI:: NC_000013.11:49175383:T:C
Gene:: FNDC3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.49175384T>C, NC_000013.10:g.49749520T>C, NM_014923.5:c.1205T>C, NM_014923.4:c.1205T>C, XM_011534997.4:c.1181T>C, XM_011534997.3:c.1181T>C, XM_011534997.2:c.1181T>C, XM_011534997.1:c.1181T>C, XM_017020440.3:c.1373T>C, XM_017020440.2:c.1373T>C, XM_017020440.1:c.1373T>C, NM_001079673.2:c.1373T>C, NM_001079673.1:c.1373T>C, NM_001278438.2:c.1373T>C, NM_001278438.1:c.1373T>C, NR_103528.2:n.1668T>C, NR_103528.1:n.1721T>C, XM_017020443.2:c.1373T>C, XM_017020443.1:c.1373T>C, NP_055738.3:p.Val402Ala, XP_011533299.1:p.Val394Ala, XP_016875929.1:p.Val458Ala, NP_001073141.1:p.Val458Ala, NP_001265367.1:p.Val458Ala, XP_016875932.1:p.Val458Ala

Select item 14851171617.

rs1485117161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:49207177 (GRCh38)
13:49781313 (GRCh37)
Canonical SPDI:: NC_000013.11:49207176:T:A
Gene:: FNDC3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49207177T>A, NC_000013.10:g.49781313T>A, NM_014923.5:c.3211T>A, NM_014923.4:c.3211T>A, XM_011534997.4:c.3187T>A, XM_011534997.3:c.3187T>A, XM_011534997.2:c.3187T>A, XM_011534997.1:c.3187T>A, XM_017020440.3:c.3379T>A, XM_017020440.2:c.3379T>A, XM_017020440.1:c.3379T>A, NM_001079673.2:c.3379T>A, NM_001079673.1:c.3379T>A, NM_001278438.2:c.3379T>A, NM_001278438.1:c.3379T>A, NR_103528.2:n.3663T>A, NR_103528.1:n.3716T>A, NP_055738.3:p.Ser1071Thr, XP_011533299.1:p.Ser1063Thr, XP_016875929.1:p.Ser1127Thr, NP_001073141.1:p.Ser1127Thr, NP_001265367.1:p.Ser1127Thr

Select item 14849755848.

rs1484975584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 13:49188625 (GRCh38)
13:49762761 (GRCh37)
Canonical SPDI:: NC_000013.11:49188624:C:A,NC_000013.11:49188624:C:G
Gene:: FNDC3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
G=0.000071/1 (TOMMO)
HGVS:: NC_000013.11:g.49188625C>A, NC_000013.11:g.49188625C>G, NC_000013.10:g.49762761C>A, NC_000013.10:g.49762761C>G, NM_014923.5:c.1768C>A, NM_014923.5:c.1768C>G, NM_014923.4:c.1768C>A, NM_014923.4:c.1768C>G, XM_011534997.4:c.1744C>A, XM_011534997.4:c.1744C>G, XM_011534997.3:c.1744C>A, XM_011534997.3:c.1744C>G, XM_011534997.2:c.1744C>A, XM_011534997.2:c.1744C>G, XM_011534997.1:c.1744C>A, XM_011534997.1:c.1744C>G, XM_017020440.3:c.1936C>A, XM_017020440.3:c.1936C>G, XM_017020440.2:c.1936C>A, XM_017020440.2:c.1936C>G, XM_017020440.1:c.1936C>A, XM_017020440.1:c.1936C>G, NM_001079673.2:c.1936C>A, NM_001079673.2:c.1936C>G, NM_001079673.1:c.1936C>A, NM_001079673.1:c.1936C>G, NM_001278438.2:c.1936C>A, NM_001278438.2:c.1936C>G, NM_001278438.1:c.1936C>A, NM_001278438.1:c.1936C>G, NR_103528.2:n.2231C>A, NR_103528.2:n.2231C>G, NR_103528.1:n.2284C>A, NR_103528.1:n.2284C>G, XM_017020443.2:c.1936C>A, XM_017020443.2:c.1936C>G, XM_017020443.1:c.1936C>A, XM_017020443.1:c.1936C>G, NP_055738.3:p.Gln590Lys, NP_055738.3:p.Gln590Glu, XP_011533299.1:p.Gln582Lys, XP_011533299.1:p.Gln582Glu, XP_016875929.1:p.Gln646Lys, XP_016875929.1:p.Gln646Glu, NP_001073141.1:p.Gln646Lys, NP_001073141.1:p.Gln646Glu, NP_001265367.1:p.Gln646Lys, NP_001265367.1:p.Gln646Glu, XP_016875932.1:p.Gln646Lys, XP_016875932.1:p.Gln646Glu

Select item 14834063699.

rs1483406369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:49207263 (GRCh38)
13:49781399 (GRCh37)
Canonical SPDI:: NC_000013.11:49207262:C:T
Gene:: FNDC3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.49207263C>T, NC_000013.10:g.49781399C>T, NM_014923.5:c.3297C>T, NM_014923.4:c.3297C>T, XM_011534997.4:c.3273C>T, XM_011534997.3:c.3273C>T, XM_011534997.2:c.3273C>T, XM_011534997.1:c.3273C>T, XM_017020440.3:c.3465C>T, XM_017020440.2:c.3465C>T, XM_017020440.1:c.3465C>T, NM_001079673.2:c.3465C>T, NM_001079673.1:c.3465C>T, NM_001278438.2:c.3465C>T, NM_001278438.1:c.3465C>T, NR_103528.2:n.3749C>T, NR_103528.1:n.3802C>T

Select item 148182236410.

rs1481822364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:49145852 (GRCh38)
13:49719988 (GRCh37)
Canonical SPDI:: NC_000013.11:49145851:T:C
Gene:: FNDC3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49145852T>C, NC_000013.10:g.49719988T>C, NM_014923.5:c.726T>C, NM_014923.4:c.726T>C, XM_011534997.4:c.702T>C, XM_011534997.3:c.702T>C, XM_011534997.2:c.702T>C, XM_011534997.1:c.702T>C, XM_017020440.3:c.894T>C, XM_017020440.2:c.894T>C, XM_017020440.1:c.894T>C, NM_001079673.2:c.894T>C, NM_001079673.1:c.894T>C, NM_001278438.2:c.894T>C, NM_001278438.1:c.894T>C, NR_103528.2:n.1189T>C, NR_103528.1:n.1242T>C, XM_017020443.2:c.894T>C, XM_017020443.1:c.894T>C

Select item 148151419911.

rs1481514199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:49136542 (GRCh38)
13:49710678 (GRCh37)
Canonical SPDI:: NC_000013.11:49136541:C:T
Gene:: FNDC3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49136542C>T, NC_000013.10:g.49710678C>T, NM_014923.5:c.533C>T, NM_014923.4:c.533C>T, XM_011534997.4:c.509C>T, XM_011534997.3:c.509C>T, XM_011534997.2:c.509C>T, XM_011534997.1:c.509C>T, XM_017020440.3:c.701C>T, XM_017020440.2:c.701C>T, XM_017020440.1:c.701C>T, NM_001079673.2:c.701C>T, NM_001079673.1:c.701C>T, NM_001278438.2:c.701C>T, NM_001278438.1:c.701C>T, NR_103528.2:n.996C>T, NR_103528.1:n.1049C>T, XM_017020443.2:c.701C>T, XM_017020443.1:c.701C>T, NP_055738.3:p.Ser178Leu, XP_011533299.1:p.Ser170Leu, XP_016875929.1:p.Ser234Leu, NP_001073141.1:p.Ser234Leu, NP_001265367.1:p.Ser234Leu, XP_016875932.1:p.Ser234Leu

Select item 148066467112.

rs1480664671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:49191281 (GRCh38)
13:49765417 (GRCh37)
Canonical SPDI:: NC_000013.11:49191280:A:G
Gene:: FNDC3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000013.11:g.49191281A>G, NC_000013.10:g.49765417A>G, NM_014923.5:c.1955A>G, NM_014923.4:c.1955A>G, XM_011534997.4:c.1931A>G, XM_011534997.3:c.1931A>G, XM_011534997.2:c.1931A>G, XM_011534997.1:c.1931A>G, XM_017020440.3:c.2123A>G, XM_017020440.2:c.2123A>G, XM_017020440.1:c.2123A>G, NM_001079673.2:c.2123A>G, NM_001079673.1:c.2123A>G, NM_001278438.2:c.2123A>G, NM_001278438.1:c.2123A>G, NR_103528.2:n.2407A>G, NR_103528.1:n.2460A>G, XM_017020443.2:c.2123A>G, XM_017020443.1:c.2123A>G, NP_055738.3:p.Glu652Gly, XP_011533299.1:p.Glu644Gly, XP_016875929.1:p.Glu708Gly, NP_001073141.1:p.Glu708Gly, NP_001265367.1:p.Glu708Gly, XP_016875932.1:p.Glu708Gly

Select item 147988591813.

rs1479885918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:49006217 (GRCh38)
13:49580353 (GRCh37)
Canonical SPDI:: NC_000013.11:49006216:T:C
Gene:: FNDC3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.49006217T>C, NC_000013.10:g.49580353T>C, XM_017020440.3:c.27T>C, XM_017020440.2:c.27T>C, XM_017020440.1:c.27T>C, NM_001079673.2:c.27T>C, NM_001079673.1:c.27T>C, NM_001278438.2:c.27T>C, NM_001278438.1:c.27T>C, NR_103528.2:n.322T>C, NR_103528.1:n.375T>C, XM_017020443.2:c.27T>C, XM_017020443.1:c.27T>C

Select item 147985331714.

rs1479853317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:49131308 (GRCh38)
13:49705444 (GRCh37)
Canonical SPDI:: NC_000013.11:49131307:G:A
Gene:: FNDC3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49131308G>A, NC_000013.10:g.49705444G>A, NM_014923.5:c.256G>A, NM_014923.4:c.256G>A, XM_011534997.4:c.232G>A, XM_011534997.3:c.232G>A, XM_011534997.2:c.232G>A, XM_011534997.1:c.232G>A, XM_017020440.3:c.424G>A, XM_017020440.2:c.424G>A, XM_017020440.1:c.424G>A, NM_001079673.2:c.424G>A, NM_001079673.1:c.424G>A, NM_001278438.2:c.424G>A, NM_001278438.1:c.424G>A, NR_103528.2:n.719G>A, NR_103528.1:n.772G>A, XM_017020443.2:c.424G>A, XM_017020443.1:c.424G>A, NP_055738.3:p.Gly86Arg, XP_011533299.1:p.Gly78Arg, XP_016875929.1:p.Gly142Arg, NP_001073141.1:p.Gly142Arg, NP_001265367.1:p.Gly142Arg, XP_016875932.1:p.Gly142Arg

Select item 147918785015.

rs1479187850 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:49207181 (GRCh38)
13:49781317 (GRCh37)
Canonical SPDI:: NC_000013.11:49207180:T:C
Gene:: FNDC3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.49207181T>C, NC_000013.10:g.49781317T>C, NM_014923.5:c.3215T>C, NM_014923.4:c.3215T>C, XM_011534997.4:c.3191T>C, XM_011534997.3:c.3191T>C, XM_011534997.2:c.3191T>C, XM_011534997.1:c.3191T>C, XM_017020440.3:c.3383T>C, XM_017020440.2:c.3383T>C, XM_017020440.1:c.3383T>C, NM_001079673.2:c.3383T>C, NM_001079673.1:c.3383T>C, NM_001278438.2:c.3383T>C, NM_001278438.1:c.3383T>C, NR_103528.2:n.3667T>C, NR_103528.1:n.3720T>C, NP_055738.3:p.Leu1072Pro, XP_011533299.1:p.Leu1064Pro, XP_016875929.1:p.Leu1128Pro, NP_001073141.1:p.Leu1128Pro, NP_001265367.1:p.Leu1128Pro

Select item 147915496616.

rs1479154966 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:49207149 (GRCh38)
13:49781285 (GRCh37)
Canonical SPDI:: NC_000013.11:49207148:T:C
Gene:: FNDC3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.49207149T>C, NC_000013.10:g.49781285T>C, NM_014923.5:c.3183T>C, NM_014923.4:c.3183T>C, XM_011534997.4:c.3159T>C, XM_011534997.3:c.3159T>C, XM_011534997.2:c.3159T>C, XM_011534997.1:c.3159T>C, XM_017020440.3:c.3351T>C, XM_017020440.2:c.3351T>C, XM_017020440.1:c.3351T>C, NM_001079673.2:c.3351T>C, NM_001079673.1:c.3351T>C, NM_001278438.2:c.3351T>C, NM_001278438.1:c.3351T>C, NR_103528.2:n.3635T>C, NR_103528.1:n.3688T>C

Select item 147907434417.

rs1479074344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:49207104 (GRCh38)
13:49781240 (GRCh37)
Canonical SPDI:: NC_000013.11:49207103:C:T
Gene:: FNDC3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49207104C>T, NC_000013.10:g.49781240C>T, NM_014923.5:c.3138C>T, NM_014923.4:c.3138C>T, XM_011534997.4:c.3114C>T, XM_011534997.3:c.3114C>T, XM_011534997.2:c.3114C>T, XM_011534997.1:c.3114C>T, XM_017020440.3:c.3306C>T, XM_017020440.2:c.3306C>T, XM_017020440.1:c.3306C>T, NM_001079673.2:c.3306C>T, NM_001079673.1:c.3306C>T, NM_001278438.2:c.3306C>T, NM_001278438.1:c.3306C>T, NR_103528.2:n.3590C>T, NR_103528.1:n.3643C>T

Select item 147831834418.

rs1478318344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:49175378 (GRCh38)
13:49749514 (GRCh37)
Canonical SPDI:: NC_000013.11:49175377:A:G
Gene:: FNDC3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.49175378A>G, NC_000013.10:g.49749514A>G, NM_014923.5:c.1199A>G, NM_014923.4:c.1199A>G, XM_011534997.4:c.1175A>G, XM_011534997.3:c.1175A>G, XM_011534997.2:c.1175A>G, XM_011534997.1:c.1175A>G, XM_017020440.3:c.1367A>G, XM_017020440.2:c.1367A>G, XM_017020440.1:c.1367A>G, NM_001079673.2:c.1367A>G, NM_001079673.1:c.1367A>G, NM_001278438.2:c.1367A>G, NM_001278438.1:c.1367A>G, NR_103528.2:n.1662A>G, NR_103528.1:n.1715A>G, XM_017020443.2:c.1367A>G, XM_017020443.1:c.1367A>G, NP_055738.3:p.Glu400Gly, XP_011533299.1:p.Glu392Gly, XP_016875929.1:p.Glu456Gly, NP_001073141.1:p.Glu456Gly, NP_001265367.1:p.Glu456Gly, XP_016875932.1:p.Glu456Gly

Select item 147801884919.

rs1478018849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:49114708 (GRCh38)
13:49688844 (GRCh37)
Canonical SPDI:: NC_000013.11:49114707:G:A
Gene:: FNDC3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.49114708G>A, NC_000013.10:g.49688844G>A, NM_014923.5:c.61G>A, NM_014923.4:c.61G>A, XM_011534997.4:c.37G>A, XM_011534997.3:c.37G>A, XM_011534997.2:c.37G>A, XM_011534997.1:c.37G>A, XM_017020440.3:c.229G>A, XM_017020440.2:c.229G>A, XM_017020440.1:c.229G>A, NM_001079673.2:c.229G>A, NM_001079673.1:c.229G>A, NM_001278438.2:c.229G>A, NM_001278438.1:c.229G>A, NR_103528.2:n.524G>A, NR_103528.1:n.577G>A, XM_017020443.2:c.229G>A, XM_017020443.1:c.229G>A, NP_055738.3:p.Val21Met, XP_011533299.1:p.Val13Met, XP_016875929.1:p.Val77Met, NP_001073141.1:p.Val77Met, NP_001265367.1:p.Val77Met, XP_016875932.1:p.Val77Met

Select item 147701354220.

rs1477013542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:49178635 (GRCh38)
13:49752771 (GRCh37)
Canonical SPDI:: NC_000013.11:49178634:G:A
Gene:: FNDC3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000013.11:g.49178635G>A, NC_000013.10:g.49752771G>A, NM_014923.5:c.1430G>A, NM_014923.4:c.1430G>A, XM_011534997.4:c.1406G>A, XM_011534997.3:c.1406G>A, XM_011534997.2:c.1406G>A, XM_011534997.1:c.1406G>A, XM_017020440.3:c.1598G>A, XM_017020440.2:c.1598G>A, XM_017020440.1:c.1598G>A, NM_001079673.2:c.1598G>A, NM_001079673.1:c.1598G>A, NM_001278438.2:c.1598G>A, NM_001278438.1:c.1598G>A, NR_103528.2:n.1893G>A, NR_103528.1:n.1946G>A, XM_017020443.2:c.1598G>A, XM_017020443.1:c.1598G>A, NP_055738.3:p.Ser477Asn, XP_011533299.1:p.Ser469Asn, XP_016875929.1:p.Ser533Asn, NP_001073141.1:p.Ser533Asn, NP_001265367.1:p.Ser533Asn, XP_016875932.1:p.Ser533Asn

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