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Select item 14915855841.

rs1491585584 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 4:73494060 (GRCh38)
4:74359777 (GRCh37)
Canonical SPDI:: NC_000004.12:73494059:GG:
Gene:: AFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00013/5 (GnomAD)
HGVS:: NC_000004.12:g.73494060_73494061del, NC_000004.11:g.74359777_74359778del

Select item 14915798702.

rs1491579870 has merged into rs149807908 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCTTCCCTT>-,CCCTT,CCCTTCCCTTCCCTT,CCCTTCCCTTCCCTTCCCTT [Show Flanks]
Chromosome:: 4:73486890 (GRCh38)
4:74352607 (GRCh37)
Canonical SPDI:: NC_000004.12:73486873:TCCCTTCCCTTCCCTTCCCTTCCCTT:TCCCTTCCCTTCCCTT,NC_000004.12:73486873:TCCCTTCCCTTCCCTTCCCTTCCCTT:TCCCTTCCCTTCCCTTCCCTT,NC_000004.12:73486873:TCCCTTCCCTTCCCTTCCCTTCCCTT:TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT,NC_000004.12:73486873:TCCCTTCCCTTCCCTTCCCTTCCCTT:TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT
Gene:: AFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT=0./0 (ALFA)
-=0.06027/279 (1000Genomes)
HGVS:: NC_000004.12:g.73486875CCCTT[3], NC_000004.12:g.73486875CCCTT[4], NC_000004.12:g.73486875CCCTT[6], NC_000004.12:g.73486875CCCTT[7], NC_000004.11:g.74352592CCCTT[3], NC_000004.11:g.74352592CCCTT[4], NC_000004.11:g.74352592CCCTT[6], NC_000004.11:g.74352592CCCTT[7]

Select item 14915663203.

rs1491566320 has merged into rs67050083 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 4:73499287 (GRCh38)
4:74365004 (GRCh37)
Canonical SPDI:: NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: AFM (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0.0001/1 (ALFA)
-=0.2743/1017 (TWINSUK)
-=0.2911/1122 (ALSPAC)
-=0.325/13 (GENOME_DK)
-=0.4575/2291 (1000Genomes)
HGVS:: NC_000004.12:g.73499287_73499290del, NC_000004.12:g.73499288_73499290del, NC_000004.12:g.73499289_73499290del, NC_000004.12:g.73499290del, NC_000004.12:g.73499290dup, NC_000004.12:g.73499289_73499290dup, NC_000004.11:g.74365004_74365007del, NC_000004.11:g.74365005_74365007del, NC_000004.11:g.74365006_74365007del, NC_000004.11:g.74365007del, NC_000004.11:g.74365007dup, NC_000004.11:g.74365006_74365007dup

Select item 14914987914.

rs1491498791 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTC,CTTC [Show Flanks]
Chromosome:: 4:73484499 (GRCh38)
4:74350217 (GRCh37)
Canonical SPDI:: NC_000004.12:73484499:TTC:TTCATTC,NC_000004.12:73484499:TTC:TTCCTTC
Gene:: AFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCCTTC=0./0 (ALFA)
HGVS:: NC_000004.12:g.73484502_73484503insATTC, NC_000004.12:g.73484502_73484503insCTTC, NC_000004.11:g.74350219_74350220insATTC, NC_000004.11:g.74350219_74350220insCTTC

Select item 14914823045.

rs1491482304 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:73499290 (GRCh38)
4:74365007 (GRCh37)
Canonical SPDI:: NC_000004.12:73499289:TA:
Gene:: AFM (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000094/12 (GnomAD)
-=0.0003/20 (ExAC)
-=0.000635/82 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73499290_73499291del, NC_000004.11:g.74365007_74365008del

Select item 14913445896.

rs1491344589 has merged into rs60080861 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 4:73494075 (GRCh38)
4:74359792 (GRCh37)
Canonical SPDI:: NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: AFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.2604/1304 (1000Genomes)
HGVS:: NC_000004.12:g.73494061GT[7], NC_000004.12:g.73494061GT[8], NC_000004.12:g.73494061GT[9], NC_000004.12:g.73494061GT[10], NC_000004.12:g.73494061GT[11], NC_000004.12:g.73494061GT[12], NC_000004.12:g.73494061GT[13], NC_000004.12:g.73494061GT[15], NC_000004.12:g.73494061GT[16], NC_000004.12:g.73494061GT[17], NC_000004.12:g.73494061GT[18], NC_000004.12:g.73494061GT[20], NC_000004.11:g.74359778GT[7], NC_000004.11:g.74359778GT[8], NC_000004.11:g.74359778GT[9], NC_000004.11:g.74359778GT[10], NC_000004.11:g.74359778GT[11], NC_000004.11:g.74359778GT[12], NC_000004.11:g.74359778GT[13], NC_000004.11:g.74359778GT[15], NC_000004.11:g.74359778GT[16], NC_000004.11:g.74359778GT[17], NC_000004.11:g.74359778GT[18], NC_000004.11:g.74359778GT[20]

Select item 14911713547.

rs1491171354 has merged into rs869080744 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:73490422 (GRCh38)
4:74356139 (GRCh37)
Canonical SPDI:: NC_000004.12:73490420:TGT:T
Gene:: AFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.73490422_73490423del, NC_000004.11:g.74356139_74356140del

Select item 14911180348.

rs1491118034 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:73484478 (GRCh38)
4:74350195 (GRCh37)
Canonical SPDI:: NC_000004.12:73484476:TCT:T
Gene:: AFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000337/4 (ALFA)
-=0.000074/10 (GnomAD)
-=0.007012/26 (TWINSUK)
-=0.008044/31 (ALSPAC)
HGVS:: NC_000004.12:g.73484478_73484479del, NC_000004.11:g.74350195_74350196del

Select item 14910452449.

rs1491045244 has merged into rs36117611 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 4:73492634 (GRCh38)
4:74358351 (GRCh37)
Canonical SPDI:: NC_000004.12:73492624:TTTTTTTTTTT:TTTTTTTTT,NC_000004.12:73492624:TTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:73492624:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:73492624:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: AFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.05/2 (GENOME_DK)
-=0.08503/388 (1000Genomes)
HGVS:: NC_000004.12:g.73492634_73492635del, NC_000004.12:g.73492635del, NC_000004.12:g.73492635dup, NC_000004.12:g.73492634_73492635dup, NC_000004.11:g.74358351_74358352del, NC_000004.11:g.74358352del, NC_000004.11:g.74358352dup, NC_000004.11:g.74358351_74358352dup

Select item 149088946210.

rs1490889462 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:73487390 (GRCh38)
4:74353107 (GRCh37)
Canonical SPDI:: NC_000004.12:73487389:T:A
Gene:: AFM (Varview)
Functional Consequence:: intron_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.73487390T>A, NC_000004.11:g.74353107T>A

Select item 149087418311.

rs1490874183 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:73486424 (GRCh38)
4:74352141 (GRCh37)
Canonical SPDI:: NC_000004.12:73486423:A:C
Gene:: AFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.73486424A>C, NC_000004.11:g.74352141A>C

Select item 149083473412.

rs1490834734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:73494203 (GRCh38)
4:74359920 (GRCh37)
Canonical SPDI:: NC_000004.12:73494202:T:A
Gene:: AFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.73494203T>A, NC_000004.11:g.74359920T>A

Select item 149076736713.

rs1490767367 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:73481293 (GRCh38)
4:74347010 (GRCh37)
Canonical SPDI:: NC_000004.12:73481292:T:C
Gene:: AFM (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.73481293T>C, NC_000004.11:g.74347010T>C

Select item 149069506114.

rs1490695061 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:73503617 (GRCh38)
4:74369334 (GRCh37)
Canonical SPDI:: NC_000004.12:73503616:A:G
Gene:: AFM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000036/5 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000004.12:g.73503617A>G, NC_000004.11:g.74369334A>G

Select item 149044803415.

rs1490448034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:73503402 (GRCh38)
4:74369119 (GRCh37)
Canonical SPDI:: NC_000004.12:73503401:C:T
Gene:: AFM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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.73503402C>T, NC_000004.11:g.74369119C>T

Select item 149041164816.

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 149039272317.

rs1490392723 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:73487905 (GRCh38)
4:74353622 (GRCh37)
Canonical SPDI:: NC_000004.12:73487904:T:C
Gene:: AFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.73487905T>C, NC_000004.11:g.74353622T>C

Select item 149038442318.

rs1490384423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:73486902 (GRCh38)
4:74352619 (GRCh37)
Canonical SPDI:: NC_000004.12:73486901:C:G
Gene:: AFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.73486902C>G, NC_000004.11:g.74352619C>G

Select item 149032198719.

rs1490321987 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:73485379 (GRCh38)
4:74351096 (GRCh37)
Canonical SPDI:: NC_000004.12:73485378:T:C
Gene:: AFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.73485379T>C, NC_000004.11:g.74351096T>C

Select item 149025179020.

rs1490251790 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 4:73491389 (GRCh38)
4:74357106 (GRCh37)
Canonical SPDI:: NC_000004.12:73491388:TT:T
Gene:: AFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.73491390del, NC_000004.11:g.74357107del

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