SNP Links for Nucleotide (Select 1122781076) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:53955021 (GRCh38)
14:54421739 (GRCh37)
Canonical SPDI:: NC_000014.9:53955020:C:T
Gene:: BMP4 (Varview), LOC124903317 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.53955021C>T, NC_000014.8:g.54421739C>T, NG_009215.1:g.6816G>A, NM_001347916.1:c.-528G>A, NM_001347917.1:c.-664G>A, NG_052605.1:g.1727C>T, XM_047432035.1:c.-880C>T

Select item 14779541478.

rs1477954147 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGTGGTGTGTGTGTGTGGTGT>- [Show Flanks]
Chromosome:: 14:53949977 (GRCh38)
14:54416695 (GRCh37)
Canonical SPDI:: NC_000014.9:53949961:GTGTGTGTGTGGTGTATGTGGTGTGTGTGTGTGGTGT:GTGTGTGTGTGGTGT
Gene:: BMP4 (Varview), MIR5580 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGGTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.53949977_53949998del, NC_000014.8:g.54416695_54416716del, NG_009215.1:g.11854_11875del, NM_001202.6:c.*49_*70del, NM_001202.5:c.*49_*70del, NM_001202.4:c.*49_*70del, NM_001202.3:c.*49_*70del, NM_130850.5:c.*49_*70del, NM_130850.4:c.*49_*70del, NM_130850.3:c.*49_*70del, NM_130850.2:c.*49_*70del, NM_130851.4:c.*49_*70del, NM_130851.3:c.*49_*70del, NM_130851.2:c.*49_*70del, NM_001347913.2:c.*49_*70del, NM_001347913.1:c.*49_*70del, NM_001347914.2:c.*49_*70del, NM_001347914.1:c.*49_*70del, NM_001347915.2:c.*49_*70del, NM_001347915.1:c.*49_*70del, NM_001347916.1:c.*49_*70del, NM_001347917.1:c.*49_*70del, NM_001347912.1:c.*49_*70del

Select item 14763219249.

rs1476321924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:53952095 (GRCh38)
14:54418813 (GRCh37)
Canonical SPDI:: NC_000014.9:53952094:C:T
Gene:: BMP4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.53952095C>T, NC_000014.8:g.54418813C>T, NG_009215.1:g.9742G>A, NM_001202.6:c.128G>A, NM_001202.5:c.128G>A, NM_001202.4:c.128G>A, NM_001202.3:c.128G>A, NM_130850.5:c.128G>A, NM_130850.4:c.128G>A, NM_130850.3:c.128G>A, NM_130850.2:c.128G>A, NM_130851.4:c.128G>A, NM_130851.3:c.128G>A, NM_130851.2:c.128G>A, NM_001347913.2:c.-62G>A, NM_001347913.1:c.-62G>A, NM_001347914.2:c.128G>A, NM_001347914.1:c.128G>A, NM_001347915.2:c.-62G>A, NM_001347915.1:c.-62G>A, NM_001347916.1:c.128G>A, NM_001347917.1:c.-62G>A, NM_001347912.1:c.269G>A, NP_001193.2:p.Gly43Glu, NP_570911.2:p.Gly43Glu, NP_570912.2:p.Gly43Glu, NP_001334843.1:p.Gly43Glu, NP_001334845.1:p.Gly43Glu, NP_001334841.1:p.Gly90Glu

Select item 147324755610.

rs1473247556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:53954800 (GRCh38)
14:54421518 (GRCh37)
Canonical SPDI:: NC_000014.9:53954799:G:A
Gene:: BMP4 (Varview), LOC124903317 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000014.9:g.53954800G>A, NC_000014.8:g.54421518G>A, NG_009215.1:g.7037C>T, NM_001347916.1:c.-307C>T, NM_001347917.1:c.-443C>T, NG_052605.1:g.1506G>A, XM_047432035.1:c.-1101G>A

Select item 147241268511.

rs1472412685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:53950357 (GRCh38)
14:54417075 (GRCh37)
Canonical SPDI:: NC_000014.9:53950356:G:A
Gene:: BMP4 (Varview), MIR5580 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_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_000014.9:g.53950357G>A, NC_000014.8:g.54417075G>A, NG_009215.1:g.11480C>T, NM_001202.6:c.902C>T, NM_001202.5:c.902C>T, NM_001202.4:c.902C>T, NM_001202.3:c.902C>T, NM_130850.5:c.902C>T, NM_130850.4:c.902C>T, NM_130850.3:c.902C>T, NM_130850.2:c.902C>T, NM_130851.4:c.902C>T, NM_130851.3:c.902C>T, NM_130851.2:c.902C>T, NM_001347913.2:c.713C>T, NM_001347913.1:c.713C>T, NM_001347914.2:c.902C>T, NM_001347914.1:c.902C>T, NM_001347915.2:c.713C>T, NM_001347915.1:c.713C>T, NM_001347916.1:c.902C>T, NM_001347917.1:c.713C>T, NM_001347912.1:c.1043C>T, NP_001193.2:p.Ala301Val, NP_570911.2:p.Ala301Val, NP_570912.2:p.Ala301Val, NP_001334842.1:p.Ala238Val, NP_001334843.1:p.Ala301Val, NP_001334844.1:p.Ala238Val, NP_001334845.1:p.Ala301Val, NP_001334846.1:p.Ala238Val, NP_001334841.1:p.Ala348Val

Select item 147152618712.

rs1471526187 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 14:53954681 (GRCh38)
14:54421399 (GRCh37)
Canonical SPDI:: NC_000014.9:53954674:CGCGCGCG:CGCGCG
Gene:: BMP4 (Varview), LOC124903317 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CGCGCG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.53954675CG[3], NC_000014.8:g.54421393CG[3], NG_009215.1:g.7155CG[3], NM_001347916.1:c.-189CG[3], NM_001347917.1:c.-325CG[3], NG_052605.1:g.1381CG[3], XM_047432035.1:c.-1226CG[3]

Select item 147097387313.

rs1470973873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:53954784 (GRCh38)
14:54421502 (GRCh37)
Canonical SPDI:: NC_000014.9:53954783:T:G
Gene:: BMP4 (Varview), LOC124903317 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.53954784T>G, NC_000014.8:g.54421502T>G, NG_009215.1:g.7053A>C, NM_001347916.1:c.-291A>C, NM_001347917.1:c.-427A>C, NG_052605.1:g.1490T>G, XM_047432035.1:c.-1117T>G

Select item 146941204114.

rs1469412041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:53951993 (GRCh38)
14:54418711 (GRCh37)
Canonical SPDI:: NC_000014.9:53951992:G:A
Gene:: BMP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.53951993G>A, NC_000014.8:g.54418711G>A, NG_009215.1:g.9844C>T, NM_001202.6:c.230C>T, NM_001202.5:c.230C>T, NM_001202.4:c.230C>T, NM_001202.3:c.230C>T, NM_130850.5:c.230C>T, NM_130850.4:c.230C>T, NM_130850.3:c.230C>T, NM_130850.2:c.230C>T, NM_130851.4:c.230C>T, NM_130851.3:c.230C>T, NM_130851.2:c.230C>T, NM_001347913.2:c.41C>T, NM_001347913.1:c.41C>T, NM_001347914.2:c.230C>T, NM_001347914.1:c.230C>T, NM_001347915.2:c.41C>T, NM_001347915.1:c.41C>T, NM_001347916.1:c.230C>T, NM_001347917.1:c.41C>T, NM_001347912.1:c.371C>T, NP_001193.2:p.Ala77Val, NP_570911.2:p.Ala77Val, NP_570912.2:p.Ala77Val, NP_001334842.1:p.Ala14Val, NP_001334843.1:p.Ala77Val, NP_001334844.1:p.Ala14Val, NP_001334845.1:p.Ala77Val, NP_001334846.1:p.Ala14Val, NP_001334841.1:p.Ala124Val

Select item 146925684815.

rs1469256848 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACT>- [Show Flanks]
Chromosome:: 14:53954656 (GRCh38)
14:54421374 (GRCh37)
Canonical SPDI:: NC_000014.9:53954653:CTGACT:CT
Gene:: BMP4 (Varview), LOC124903317 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.53954656_53954659del, NC_000014.8:g.54421374_54421377del, NG_009215.1:g.7180_7183del, NM_001347916.1:c.-164_-161del, NM_001347917.1:c.-300_-297del, NG_052605.1:g.1362_1365del, XM_047432035.1:c.-1245_-1242del

Select item 146832667216.

rs1468326672 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGC [Show Flanks]
Chromosome:: 14:53950359 (GRCh38)
14:54417078 (GRCh37)
Canonical SPDI:: NC_000014.9:53950359:C:CCGC
Gene:: BMP4 (Varview), MIR5580 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency
MAF:: CCG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.53950360_53950361insCGC, NC_000014.8:g.54417078_54417079insCGC, NG_009215.1:g.11477_11478insCGG, NM_001202.6:c.899_900insCGG, NM_001202.5:c.899_900insCGG, NM_001202.4:c.899_900insCGG, NM_001202.3:c.899_900insCGG, NM_130850.5:c.899_900insCGG, NM_130850.4:c.899_900insCGG, NM_130850.3:c.899_900insCGG, NM_130850.2:c.899_900insCGG, NM_130851.4:c.899_900insCGG, NM_130851.3:c.899_900insCGG, NM_130851.2:c.899_900insCGG, NM_001347913.2:c.710_711insCGG, NM_001347913.1:c.710_711insCGG, NM_001347914.2:c.899_900insCGG, NM_001347914.1:c.899_900insCGG, NM_001347915.2:c.710_711insCGG, NM_001347915.1:c.710_711insCGG, NM_001347916.1:c.899_900insCGG, NM_001347917.1:c.710_711insCGG, NM_001347912.1:c.1040_1041insCGG, NP_001193.2:p.Ala301_Arg302insGly, NP_570911.2:p.Ala301_Arg302insGly, NP_570912.2:p.Ala301_Arg302insGly, NP_001334842.1:p.Ala238_Arg239insGly, NP_001334843.1:p.Ala301_Arg302insGly, NP_001334844.1:p.Ala238_Arg239insGly, NP_001334845.1:p.Ala301_Arg302insGly, NP_001334846.1:p.Ala238_Arg239insGly, NP_001334841.1:p.Ala348_Arg349insGly

Select item 146815349717.

rs1468153497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:53951863 (GRCh38)
14:54418581 (GRCh37)
Canonical SPDI:: NC_000014.9:53951862:G:A
Gene:: BMP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.53951863G>A, NC_000014.8:g.54418581G>A, NG_009215.1:g.9974C>T, NM_001202.6:c.360C>T, NM_001202.5:c.360C>T, NM_001202.4:c.360C>T, NM_001202.3:c.360C>T, NM_130850.5:c.360C>T, NM_130850.4:c.360C>T, NM_130850.3:c.360C>T, NM_130850.2:c.360C>T, NM_130851.4:c.360C>T, NM_130851.3:c.360C>T, NM_130851.2:c.360C>T, NM_001347913.2:c.171C>T, NM_001347913.1:c.171C>T, NM_001347914.2:c.360C>T, NM_001347914.1:c.360C>T, NM_001347915.2:c.171C>T, NM_001347915.1:c.171C>T, NM_001347916.1:c.360C>T, NM_001347917.1:c.171C>T, NM_001347912.1:c.501C>T

Select item 146584840118.

rs1465848401 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCC>- [Show Flanks]
Chromosome:: 14:53951945 (GRCh38)
14:54418663 (GRCh37)
Canonical SPDI:: NC_000014.9:53951935:TCCTCCTCCTCC:TCCTCCTCC
Gene:: BMP4 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCTCCTCC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.53951936TCC[3], NC_000014.8:g.54418654TCC[3], NG_009215.1:g.9890GGA[3], NM_001202.6:c.276GGA[3], NM_001202.5:c.276GGA[3], NM_001202.4:c.276GGA[3], NM_001202.3:c.276GGA[3], NM_130850.5:c.276GGA[3], NM_130850.4:c.276GGA[3], NM_130850.3:c.276GGA[3], NM_130850.2:c.276GGA[3], NM_130851.4:c.276GGA[3], NM_130851.3:c.276GGA[3], NM_130851.2:c.276GGA[3], NM_001347913.2:c.87GGA[3], NM_001347913.1:c.87GGA[3], NM_001347914.2:c.276GGA[3], NM_001347914.1:c.276GGA[3], NM_001347915.2:c.87GGA[3], NM_001347915.1:c.87GGA[3], NM_001347916.1:c.276GGA[3], NM_001347917.1:c.87GGA[3], NM_001347912.1:c.417GGA[3], NP_001193.2:p.Glu97del, NP_570911.2:p.Glu97del, NP_570912.2:p.Glu97del, NP_001334842.1:p.Glu34del, NP_001334843.1:p.Glu97del, NP_001334844.1:p.Glu34del, NP_001334845.1:p.Glu97del, NP_001334846.1:p.Glu34del, NP_001334841.1:p.Glu144del

Select item 146496680819.

rs1464966808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:53950585 (GRCh38)
14:54417303 (GRCh37)
Canonical SPDI:: NC_000014.9:53950584:G:A
Gene:: BMP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.53950585G>A, NC_000014.8:g.54417303G>A, NG_009215.1:g.11252C>T, NM_001202.6:c.674C>T, NM_001202.5:c.674C>T, NM_001202.4:c.674C>T, NM_001202.3:c.674C>T, NM_130850.5:c.674C>T, NM_130850.4:c.674C>T, NM_130850.3:c.674C>T, NM_130850.2:c.674C>T, NM_130851.4:c.674C>T, NM_130851.3:c.674C>T, NM_130851.2:c.674C>T, NM_001347913.2:c.485C>T, NM_001347913.1:c.485C>T, NM_001347914.2:c.674C>T, NM_001347914.1:c.674C>T, NM_001347915.2:c.485C>T, NM_001347915.1:c.485C>T, NM_001347916.1:c.674C>T, NM_001347917.1:c.485C>T, NM_001347912.1:c.815C>T, NP_001193.2:p.Thr225Ile, NP_570911.2:p.Thr225Ile, NP_570912.2:p.Thr225Ile, NP_001334842.1:p.Thr162Ile, NP_001334843.1:p.Thr225Ile, NP_001334844.1:p.Thr162Ile, NP_001334845.1:p.Thr225Ile, NP_001334846.1:p.Thr162Ile, NP_001334841.1:p.Thr272Ile

Select item 146127838420.

rs1461278384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:53954695 (GRCh38)
14:54421413 (GRCh37)
Canonical SPDI:: NC_000014.9:53954694:C:A
Gene:: BMP4 (Varview), LOC124903317 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.53954695C>A, NC_000014.8:g.54421413C>A, NG_009215.1:g.7142G>T, NM_001347916.1:c.-202G>T, NM_001347917.1:c.-338G>T, NG_052605.1:g.1401C>A, XM_047432035.1:c.-1206C>A

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