SNP Links for Nucleotide (Select 27754774) - SNP

Links from Nucleotide

Items: 1 to 20 of 684

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Select item 14904116481.

rs1490411648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:73500038 (GRCh38)
4:74365755 (GRCh37)
Canonical SPDI:: NC_000004.12:73500037:A:T
Gene:: AFM (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73500038A>T, NC_000004.11:g.74365755A>T, NM_001133.2:c.1457A>T, NP_001124.1:p.Asn486Ile

Select item 14893910662.

rs1489391066 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:73491986 (GRCh38)
4:74357703 (GRCh37)
Canonical SPDI:: NC_000004.12:73491984:AGA:A
Gene:: AFM (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.73491986_73491987del, NC_000004.11:g.74357703_74357704del, XM_017007842.3:c.958_959del, XM_017007842.2:c.958_959del, XM_017007842.1:c.958_959del, XM_017007844.3:c.958_959del, XM_017007844.2:c.958_959del, XM_017007844.1:c.958_959del, XM_017007843.3:c.958_959del, XM_017007843.2:c.958_959del, XM_017007843.1:c.958_959del, NM_001133.2:c.958_959del, XP_016863331.1:p.Lys319_Asp320insTer, XP_016863333.1:p.Lys319_Asp320insTer, XP_016863332.1:p.Lys319_Asp320insTer, NP_001124.1:p.Lys319_Asp320insTer

Select item 14848561843.

rs1484856184 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:73500132 (GRCh38)
4:74365849 (GRCh37)
Canonical SPDI:: NC_000004.12:73500131:A:G,NC_000004.12:73500131:A:T
Gene:: AFM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.73500132A>G, NC_000004.12:g.73500132A>T, NC_000004.11:g.74365849A>G, NC_000004.11:g.74365849A>T, NM_001133.2:c.1551A>G, NM_001133.2:c.1551A>T, NP_001124.1:p.Lys517Asn

Select item 14795511604.

rs1479551160 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:73497745 (GRCh38)
4:74363462 (GRCh37)
Canonical SPDI:: NC_000004.12:73497744:T:C
Gene:: AFM (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73497745T>C, NC_000004.11:g.74363462T>C, XM_017007842.3:c.1285T>C, XM_017007842.2:c.1285T>C, XM_017007842.1:c.1285T>C, NM_001133.2:c.1285T>C, XP_016863331.1:p.Tyr429His, NP_001124.1:p.Tyr429His

Select item 14778452725.

rs1477845272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:73484368 (GRCh38)
4:74350085 (GRCh37)
Canonical SPDI:: NC_000004.12:73484367:T:C
Gene:: AFM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.73484368T>C, NC_000004.11:g.74350085T>C, XM_017007842.3:c.248T>C, XM_017007842.2:c.248T>C, XM_017007842.1:c.248T>C, XM_017007844.3:c.248T>C, XM_017007844.2:c.248T>C, XM_017007844.1:c.248T>C, XM_017007843.3:c.248T>C, XM_017007843.2:c.248T>C, XM_017007843.1:c.248T>C, NM_001133.2:c.248T>C, XP_016863331.1:p.Leu83Pro, XP_016863333.1:p.Leu83Pro, XP_016863332.1:p.Leu83Pro, NP_001124.1:p.Leu83Pro

Select item 14771466856.

rs1477146685 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:73492030 (GRCh38)
4:74357747 (GRCh37)
Canonical SPDI:: NC_000004.12:73492029:T:C
Gene:: AFM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.73492030T>C, NC_000004.11:g.74357747T>C, XM_017007842.3:c.1002T>C, XM_017007842.2:c.1002T>C, XM_017007842.1:c.1002T>C, XM_017007844.3:c.1002T>C, XM_017007844.2:c.1002T>C, XM_017007844.1:c.1002T>C, XM_017007843.3:c.1002T>C, XM_017007843.2:c.1002T>C, XM_017007843.1:c.1002T>C, NM_001133.2:c.1002T>C

Select item 14771165357.

rs1477116535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:73486072 (GRCh38)
4:74351789 (GRCh37)
Canonical SPDI:: NC_000004.12:73486071:C:T
Gene:: AFM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/10 (GnomAD_exomes)
T=0.000093/13 (GnomAD)
T=0.000253/67 (TOPMED)
HGVS:: NC_000004.12:g.73486072C>T, NC_000004.11:g.74351789C>T, XM_017007842.3:c.481C>T, XM_017007842.2:c.481C>T, XM_017007842.1:c.481C>T, XM_017007844.3:c.481C>T, XM_017007844.2:c.481C>T, XM_017007844.1:c.481C>T, XM_017007843.3:c.481C>T, XM_017007843.2:c.481C>T, XM_017007843.1:c.481C>T, NM_001133.2:c.481C>T, XP_016863331.1:p.His161Tyr, XP_016863333.1:p.His161Tyr, XP_016863332.1:p.His161Tyr, NP_001124.1:p.His161Tyr

Select item 14766408978.

rs1476640897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:73501816 (GRCh38)
4:74367533 (GRCh37)
Canonical SPDI:: NC_000004.12:73501815:A:G
Gene:: AFM (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73501816A>G, NC_000004.11:g.74367533A>G, XM_017007842.3:c.*13A>G, XM_017007842.2:c.*13A>G, XM_017007842.1:c.*13A>G, NM_001133.2:c.1676A>G, NP_001124.1:p.His559Arg

Select item 14756854669.

rs1475685466 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 4:73495383 (GRCh38)
4:74361100 (GRCh37)
Canonical SPDI:: NC_000004.12:73495382:T:
Gene:: AFM (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.73495383del, NC_000004.11:g.74361100del, XM_017007842.3:c.1142del, XM_017007842.2:c.1142del, XM_017007842.1:c.1142del, XM_017007844.3:c.1142del, XM_017007844.2:c.1142del, XM_017007844.1:c.1142del, XM_017007843.3:c.1142del, XM_017007843.2:c.1142del, XM_017007843.1:c.1142del, NM_001133.2:c.1142del, XP_016863331.1:p.Leu381fs, XP_016863333.1:p.Leu381fs, XP_016863332.1:p.Leu381fs, NP_001124.1:p.Leu381fs

Select item 147567114110.

rs1475671141 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:73483966 (GRCh38)
4:74349683 (GRCh37)
Canonical SPDI:: NC_000004.12:73483965:T:A
Gene:: AFM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.73483966T>A, NC_000004.11:g.74349683T>A, XM_017007842.3:c.114T>A, XM_017007842.2:c.114T>A, XM_017007842.1:c.114T>A, XM_017007844.3:c.114T>A, XM_017007844.2:c.114T>A, XM_017007844.1:c.114T>A, XM_017007843.3:c.114T>A, XM_017007843.2:c.114T>A, XM_017007843.1:c.114T>A, NM_001133.2:c.114T>A, XP_016863331.1:p.Phe38Leu, XP_016863333.1:p.Phe38Leu, XP_016863332.1:p.Phe38Leu, NP_001124.1:p.Phe38Leu

Select item 147324268711.

rs1473242687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:73488645 (GRCh38)
4:74354362 (GRCh37)
Canonical SPDI:: NC_000004.12:73488644:C:T
Gene:: AFM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000004.12:g.73488645C>T, NC_000004.11:g.74354362C>T, XM_017007842.3:c.729C>T, XM_017007842.2:c.729C>T, XM_017007842.1:c.729C>T, XM_017007844.3:c.729C>T, XM_017007844.2:c.729C>T, XM_017007844.1:c.729C>T, XM_017007843.3:c.729C>T, XM_017007843.2:c.729C>T, XM_017007843.1:c.729C>T, NM_001133.2:c.729C>T

Select item 147079347012.

rs1470793470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:73495372 (GRCh38)
4:74361089 (GRCh37)
Canonical SPDI:: NC_000004.12:73495371:C:A
Gene:: AFM (Varview)
Functional Consequence:: stop_gained,coding_sequence_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_000004.12:g.73495372C>A, NC_000004.11:g.74361089C>A, XM_017007842.3:c.1131C>A, XM_017007842.2:c.1131C>A, XM_017007842.1:c.1131C>A, XM_017007844.3:c.1131C>A, XM_017007844.2:c.1131C>A, XM_017007844.1:c.1131C>A, XM_017007843.3:c.1131C>A, XM_017007843.2:c.1131C>A, XM_017007843.1:c.1131C>A, NM_001133.2:c.1131C>A, XP_016863331.1:p.Tyr377Ter, XP_016863333.1:p.Tyr377Ter, XP_016863332.1:p.Tyr377Ter, NP_001124.1:p.Tyr377Ter

Select item 147059724013.

rs1470597240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:73487090 (GRCh38)
4:74352807 (GRCh37)
Canonical SPDI:: NC_000004.12:73487089:T:A
Gene:: AFM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.73487090T>A, NC_000004.11:g.74352807T>A, XM_017007842.3:c.606T>A, XM_017007842.2:c.606T>A, XM_017007842.1:c.606T>A, XM_017007844.3:c.606T>A, XM_017007844.2:c.606T>A, XM_017007844.1:c.606T>A, XM_017007843.3:c.606T>A, XM_017007843.2:c.606T>A, XM_017007843.1:c.606T>A, NM_001133.2:c.606T>A

Select item 147024133714.

rs1470241337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:73485866 (GRCh38)
4:74351583 (GRCh37)
Canonical SPDI:: NC_000004.12:73485865:A:C
Gene:: AFM (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)
HGVS:: NC_000004.12:g.73485866A>C, NC_000004.11:g.74351583A>C, XM_017007842.3:c.275A>C, XM_017007842.2:c.275A>C, XM_017007842.1:c.275A>C, XM_017007844.3:c.275A>C, XM_017007844.2:c.275A>C, XM_017007844.1:c.275A>C, XM_017007843.3:c.275A>C, XM_017007843.2:c.275A>C, XM_017007843.1:c.275A>C, NM_001133.2:c.275A>C, XP_016863331.1:p.Asn92Thr, XP_016863333.1:p.Asn92Thr, XP_016863332.1:p.Asn92Thr, NP_001124.1:p.Asn92Thr

Select item 147019914115.

rs1470199141 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:73487732 (GRCh38)
4:74353449 (GRCh37)
Canonical SPDI:: NC_000004.12:73487731:T:C
Gene:: AFM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73487732T>C, NC_000004.11:g.74353449T>C, XM_017007842.3:c.624T>C, XM_017007842.2:c.624T>C, XM_017007842.1:c.624T>C, XM_017007844.3:c.624T>C, XM_017007844.2:c.624T>C, XM_017007844.1:c.624T>C, XM_017007843.3:c.624T>C, XM_017007843.2:c.624T>C, XM_017007843.1:c.624T>C, NM_001133.2:c.624T>C

Select item 147019396516.

rs1470193965 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:73503050 (GRCh38)
4:74368767 (GRCh37)
Canonical SPDI:: NC_000004.12:73503049:A:C
Gene:: AFM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73503050A>C, NC_000004.11:g.74368767A>C, NM_001133.2:c.1780A>C, NP_001124.1:p.Ser594Arg

Select item 146759188517.

rs1467591885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:73497668 (GRCh38)
4:74363385 (GRCh37)
Canonical SPDI:: NC_000004.12:73497667:A:C
Gene:: AFM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73497668A>C, NC_000004.11:g.74363385A>C, XM_017007842.3:c.1208A>C, XM_017007842.2:c.1208A>C, XM_017007842.1:c.1208A>C, XM_017007844.3:c.1208A>C, XM_017007844.2:c.1208A>C, XM_017007844.1:c.1208A>C, XM_017007843.3:c.1208A>C, XM_017007843.2:c.1208A>C, XM_017007843.1:c.1208A>C, NM_001133.2:c.1208A>C, XP_016863331.1:p.Glu403Ala, XP_016863333.1:p.Glu403Ala, XP_016863332.1:p.Glu403Ala, NP_001124.1:p.Glu403Ala

Select item 146692071418.

rs1466920714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:73483947 (GRCh38)
4:74349664 (GRCh37)
Canonical SPDI:: NC_000004.12:73483946:T:G
Gene:: AFM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.003126/72 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.001179/266 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73483947T>G, NC_000004.11:g.74349664T>G, XM_017007842.3:c.95T>G, XM_017007842.2:c.95T>G, XM_017007842.1:c.95T>G, XM_017007844.3:c.95T>G, XM_017007844.2:c.95T>G, XM_017007844.1:c.95T>G, XM_017007843.3:c.95T>G, XM_017007843.2:c.95T>G, XM_017007843.1:c.95T>G, NM_001133.2:c.95T>G, XP_016863331.1:p.Phe32Cys, XP_016863333.1:p.Phe32Cys, XP_016863332.1:p.Phe32Cys, NP_001124.1:p.Phe32Cys

Select item 146462440319.

rs1464624403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:73491970 (GRCh38)
4:74357687 (GRCh37)
Canonical SPDI:: NC_000004.12:73491969:A:G
Gene:: AFM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.73491970A>G, NC_000004.11:g.74357687A>G, XM_017007842.3:c.942A>G, XM_017007842.2:c.942A>G, XM_017007842.1:c.942A>G, XM_017007844.3:c.942A>G, XM_017007844.2:c.942A>G, XM_017007844.1:c.942A>G, XM_017007843.3:c.942A>G, XM_017007843.2:c.942A>G, XM_017007843.1:c.942A>G, NM_001133.2:c.942A>G, XP_016863331.1:p.Ile314Met, XP_016863333.1:p.Ile314Met, XP_016863332.1:p.Ile314Met, NP_001124.1:p.Ile314Met

Select item 146255751020.

rs1462557510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:73500225 (GRCh38)
4:74365942 (GRCh37)
Canonical SPDI:: NC_000004.12:73500224:C:A
Gene:: AFM (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.73500225C>A, NC_000004.11:g.74365942C>A, XM_017007842.3:c.1466C>A, XM_017007842.2:c.1466C>A, XM_017007842.1:c.1466C>A, NM_001133.2:c.1644C>A, XP_016863331.1:p.Thr489Lys, NP_001124.1:p.Asp548Glu

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