SNP Links for Gene (Select 4089) - SNP

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Select item 14915868941.

rs1491586894 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 18:51076789 (GRCh38)
18:48603159 (GRCh37)
Canonical SPDI:: NC_000018.10:51076786:TTTT:TT
Gene:: SMAD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000045/5 (ExAC)
HGVS:: NC_000018.10:g.51076789_51076790del, NC_000018.9:g.48603159_48603160del, NG_013013.2:g.113750_113751del

Select item 14915585562.

rs1491558556 has merged into rs56017493 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 18:51084025 (GRCh38)
18:48610395 (GRCh37)
Canonical SPDI:: NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:51084012:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: SMAD4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACA=0./0 (ALFA)
HGVS:: NC_000018.10:g.51084013CA[6], NC_000018.10:g.51084013CA[7], NC_000018.10:g.51084013CA[8], NC_000018.10:g.51084013CA[9], NC_000018.10:g.51084013CA[10], NC_000018.10:g.51084013CA[11], NC_000018.10:g.51084013CA[12], NC_000018.10:g.51084013CA[13], NC_000018.10:g.51084013CA[14], NC_000018.10:g.51084013CA[15], NC_000018.10:g.51084013CA[17], NC_000018.10:g.51084013CA[18], NC_000018.10:g.51084013CA[19], NC_000018.10:g.51084013CA[20], NC_000018.10:g.51084013CA[21], NC_000018.10:g.51084013CA[22], NC_000018.10:g.51084013CA[23], NC_000018.10:g.51084013CA[24], NC_000018.10:g.51084013CA[25], NC_000018.9:g.48610383CA[6], NC_000018.9:g.48610383CA[7], NC_000018.9:g.48610383CA[8], NC_000018.9:g.48610383CA[9], NC_000018.9:g.48610383CA[10], NC_000018.9:g.48610383CA[11], NC_000018.9:g.48610383CA[12], NC_000018.9:g.48610383CA[13], NC_000018.9:g.48610383CA[14], NC_000018.9:g.48610383CA[15], NC_000018.9:g.48610383CA[17], NC_000018.9:g.48610383CA[18], NC_000018.9:g.48610383CA[19], NC_000018.9:g.48610383CA[20], NC_000018.9:g.48610383CA[21], NC_000018.9:g.48610383CA[22], NC_000018.9:g.48610383CA[23], NC_000018.9:g.48610383CA[24], NC_000018.9:g.48610383CA[25], NG_013013.2:g.120974CA[6], NG_013013.2:g.120974CA[7], NG_013013.2:g.120974CA[8], NG_013013.2:g.120974CA[9], NG_013013.2:g.120974CA[10], NG_013013.2:g.120974CA[11], NG_013013.2:g.120974CA[12], NG_013013.2:g.120974CA[13], NG_013013.2:g.120974CA[14], NG_013013.2:g.120974CA[15], NG_013013.2:g.120974CA[17], NG_013013.2:g.120974CA[18], NG_013013.2:g.120974CA[19], NG_013013.2:g.120974CA[20], NG_013013.2:g.120974CA[21], NG_013013.2:g.120974CA[22], NG_013013.2:g.120974CA[23], NG_013013.2:g.120974CA[24], NG_013013.2:g.120974CA[25], NM_005359.6:c.*5546CA[6], NM_005359.6:c.*5546CA[7], NM_005359.6:c.*5546CA[8], NM_005359.6:c.*5546CA[9], NM_005359.6:c.*5546CA[10], NM_005359.6:c.*5546CA[11], NM_005359.6:c.*5546CA[12], NM_005359.6:c.*5546CA[13], NM_005359.6:c.*5546CA[14], NM_005359.6:c.*5546CA[15], NM_005359.6:c.*5546CA[17], NM_005359.6:c.*5546CA[18], NM_005359.6:c.*5546CA[19], NM_005359.6:c.*5546CA[20], NM_005359.6:c.*5546CA[21], NM_005359.6:c.*5546CA[22], NM_005359.6:c.*5546CA[23], NM_005359.6:c.*5546CA[24], NM_005359.6:c.*5546CA[25], NM_005359.5:c.*5546CA[6], NM_005359.5:c.*5546CA[7], NM_005359.5:c.*5546CA[8], NM_005359.5:c.*5546CA[9], NM_005359.5:c.*5546CA[10], NM_005359.5:c.*5546CA[11], NM_005359.5:c.*5546CA[12], NM_005359.5:c.*5546CA[13], NM_005359.5:c.*5546CA[14], NM_005359.5:c.*5546CA[15], NM_005359.5:c.*5546CA[17], NM_005359.5:c.*5546CA[18], NM_005359.5:c.*5546CA[19], NM_005359.5:c.*5546CA[20], NM_005359.5:c.*5546CA[21], NM_005359.5:c.*5546CA[22], NM_005359.5:c.*5546CA[23], NM_005359.5:c.*5546CA[24], NM_005359.5:c.*5546CA[25], NR_176265.1:n.7856CA[6], NR_176265.1:n.7856CA[7], NR_176265.1:n.7856CA[8], NR_176265.1:n.7856CA[9], NR_176265.1:n.7856CA[10], NR_176265.1:n.7856CA[11], NR_176265.1:n.7856CA[12], NR_176265.1:n.7856CA[13], NR_176265.1:n.7856CA[14], NR_176265.1:n.7856CA[15], NR_176265.1:n.7856CA[17], NR_176265.1:n.7856CA[18], NR_176265.1:n.7856CA[19], NR_176265.1:n.7856CA[20], NR_176265.1:n.7856CA[21], NR_176265.1:n.7856CA[22], NR_176265.1:n.7856CA[23], NR_176265.1:n.7856CA[24], NR_176265.1:n.7856CA[25], NM_001407042.1:c.*5546CA[6], NM_001407042.1:c.*5546CA[7], NM_001407042.1:c.*5546CA[8], NM_001407042.1:c.*5546CA[9], NM_001407042.1:c.*5546CA[10], NM_001407042.1:c.*5546CA[11], NM_001407042.1:c.*5546CA[12], NM_001407042.1:c.*5546CA[13], NM_001407042.1:c.*5546CA[14], NM_001407042.1:c.*5546CA[15], NM_001407042.1:c.*5546CA[17], NM_001407042.1:c.*5546CA[18], NM_001407042.1:c.*5546CA[19], NM_001407042.1:c.*5546CA[20], NM_001407042.1:c.*5546CA[21], NM_001407042.1:c.*5546CA[22], NM_001407042.1:c.*5546CA[23], NM_001407042.1:c.*5546CA[24], NM_001407042.1:c.*5546CA[25], NM_001407041.1:c.*5546CA[6], NM_001407041.1:c.*5546CA[7], NM_001407041.1:c.*5546CA[8], NM_001407041.1:c.*5546CA[9], NM_001407041.1:c.*5546CA[10], NM_001407041.1:c.*5546CA[11], NM_001407041.1:c.*5546CA[12], NM_001407041.1:c.*5546CA[13], NM_001407041.1:c.*5546CA[14], NM_001407041.1:c.*5546CA[15], NM_001407041.1:c.*5546CA[17], NM_001407041.1:c.*5546CA[18], NM_001407041.1:c.*5546CA[19], NM_001407041.1:c.*5546CA[20], NM_001407041.1:c.*5546CA[21], NM_001407041.1:c.*5546CA[22], NM_001407041.1:c.*5546CA[23], NM_001407041.1:c.*5546CA[24], NM_001407041.1:c.*5546CA[25]

Select item 14914605723.

rs1491460572 [Homo sapiens]

Variant type:: SNV:
Alleles:: TT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14914596184.

rs1491459618 has merged into rs68159021 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGCGCGC>-,GC,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC [Show Flanks]
Chromosome:: 18:51084004 (GRCh38)
18:48610374 (GRCh37)
Canonical SPDI:: NC_000018.10:51084002:CGCGCGCGCGC:C,NC_000018.10:51084002:CGCGCGCGCGC:CGC,NC_000018.10:51084002:CGCGCGCGCGC:CGCGC,NC_000018.10:51084002:CGCGCGCGCGC:CGCGCGC,NC_000018.10:51084002:CGCGCGCGCGC:CGCGCGCGC,NC_000018.10:51084002:CGCGCGCGCGC:CGCGCGCGCGCGC,NC_000018.10:51084002:CGCGCGCGCGC:CGCGCGCGCGCGCGC,NC_000018.10:51084002:CGCGCGCGCGC:CGCGCGCGCGCGCGCGC
Gene:: SMAD4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
HGVS:: NC_000018.10:g.51084004_51084013del, NC_000018.10:g.51084004GC[1], NC_000018.10:g.51084004GC[2], NC_000018.10:g.51084004GC[3], NC_000018.10:g.51084004GC[4], NC_000018.10:g.51084004GC[6], NC_000018.10:g.51084004GC[7], NC_000018.10:g.51084004GC[8], NC_000018.9:g.48610374_48610383del, NC_000018.9:g.48610374GC[1], NC_000018.9:g.48610374GC[2], NC_000018.9:g.48610374GC[3], NC_000018.9:g.48610374GC[4], NC_000018.9:g.48610374GC[6], NC_000018.9:g.48610374GC[7], NC_000018.9:g.48610374GC[8], NG_013013.2:g.120965_120974del, NG_013013.2:g.120965GC[1], NG_013013.2:g.120965GC[2], NG_013013.2:g.120965GC[3], NG_013013.2:g.120965GC[4], NG_013013.2:g.120965GC[6], NG_013013.2:g.120965GC[7], NG_013013.2:g.120965GC[8], NM_005359.6:c.*5537_*5546del, NM_005359.6:c.*5537GC[1], NM_005359.6:c.*5537GC[2], NM_005359.6:c.*5537GC[3], NM_005359.6:c.*5537GC[4], NM_005359.6:c.*5537GC[6], NM_005359.6:c.*5537GC[7], NM_005359.6:c.*5537GC[8], NM_005359.5:c.*5537_*5546del, NM_005359.5:c.*5537GC[1], NM_005359.5:c.*5537GC[2], NM_005359.5:c.*5537GC[3], NM_005359.5:c.*5537GC[4], NM_005359.5:c.*5537GC[6], NM_005359.5:c.*5537GC[7], NM_005359.5:c.*5537GC[8], NR_176265.1:n.7847_7856del, NR_176265.1:n.7847GC[1], NR_176265.1:n.7847GC[2], NR_176265.1:n.7847GC[3], NR_176265.1:n.7847GC[4], NR_176265.1:n.7847GC[6], NR_176265.1:n.7847GC[7], NR_176265.1:n.7847GC[8], NM_001407042.1:c.*5537_*5546del, NM_001407042.1:c.*5537GC[1], NM_001407042.1:c.*5537GC[2], NM_001407042.1:c.*5537GC[3], NM_001407042.1:c.*5537GC[4], NM_001407042.1:c.*5537GC[6], NM_001407042.1:c.*5537GC[7], NM_001407042.1:c.*5537GC[8], NM_001407041.1:c.*5537_*5546del, NM_001407041.1:c.*5537GC[1], NM_001407041.1:c.*5537GC[2], NM_001407041.1:c.*5537GC[3], NM_001407041.1:c.*5537GC[4], NM_001407041.1:c.*5537GC[6], NM_001407041.1:c.*5537GC[7], NM_001407041.1:c.*5537GC[8]

Select item 14914202665.

rs1491420266 has merged into rs1555688055 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCAC,GCACAC,GCACACAC,GCACACACAC,GCACACACACAC,GCACACACACACAC,GCACACACACACACAC,GCGCAC,GCGCACAC,GCGCACACAC [Show Flanks]
Chromosome:: 18:51084012 (GRCh38)
18:48610383 (GRCh37)
Canonical SPDI:: NC_000018.10:51084012:C:CGCAC,NC_000018.10:51084012:C:CGCACAC,NC_000018.10:51084012:C:CGCACACAC,NC_000018.10:51084012:C:CGCACACACAC,NC_000018.10:51084012:C:CGCACACACACAC,NC_000018.10:51084012:C:CGCACACACACACAC,NC_000018.10:51084012:C:CGCACACACACACACAC,NC_000018.10:51084012:C:CGCGCAC,NC_000018.10:51084012:C:CGCGCACAC,NC_000018.10:51084012:C:CGCGCACACAC
Gene:: SMAD4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: CGCACAC=0./0 (ALFA)
CGCA=0.02445/410 (TOMMO)
HGVS:: NC_000018.10:g.51084013_51084014insGCAC, NC_000018.10:g.51084013_51084014insGCACAC, NC_000018.10:g.51084013_51084014insGCACACAC, NC_000018.10:g.51084013_51084014insGCACACACAC, NC_000018.10:g.51084013_51084014insGCACACACACAC, NC_000018.10:g.51084013_51084014insGCACACACACACAC, NC_000018.10:g.51084013_51084014insGCACACACACACACAC, NC_000018.10:g.51084013CG[2]CAC[1], NC_000018.10:g.51084013CG[2]CA[2]C[1], NC_000018.10:g.51084013CG[2]CA[3]C[1], NC_000018.9:g.48610383_48610384insGCAC, NC_000018.9:g.48610383_48610384insGCACAC, NC_000018.9:g.48610383_48610384insGCACACAC, NC_000018.9:g.48610383_48610384insGCACACACAC, NC_000018.9:g.48610383_48610384insGCACACACACAC, NC_000018.9:g.48610383_48610384insGCACACACACACAC, NC_000018.9:g.48610383_48610384insGCACACACACACACAC, NC_000018.9:g.48610383CG[2]CAC[1], NC_000018.9:g.48610383CG[2]CA[2]C[1], NC_000018.9:g.48610383CG[2]CA[3]C[1], NG_013013.2:g.120974_120975insGCAC, NG_013013.2:g.120974_120975insGCACAC, NG_013013.2:g.120974_120975insGCACACAC, NG_013013.2:g.120974_120975insGCACACACAC, NG_013013.2:g.120974_120975insGCACACACACAC, NG_013013.2:g.120974_120975insGCACACACACACAC, NG_013013.2:g.120974_120975insGCACACACACACACAC, NG_013013.2:g.120974CG[2]CAC[1], NG_013013.2:g.120974CG[2]CA[2]C[1], NG_013013.2:g.120974CG[2]CA[3]C[1], NM_005359.6:c.*5546_*5547insGCAC, NM_005359.6:c.*5546_*5547insGCACAC, NM_005359.6:c.*5546_*5547insGCACACAC, NM_005359.6:c.*5546_*5547insGCACACACAC, NM_005359.6:c.*5546_*5547insGCACACACACAC, NM_005359.6:c.*5546_*5547insGCACACACACACAC, NM_005359.6:c.*5546_*5547insGCACACACACACACAC, NM_005359.6:c.*5546CG[2]CAC[1], NM_005359.6:c.*5546CG[2]CA[2]C[1], NM_005359.6:c.*5546CG[2]CA[3]C[1], NM_005359.5:c.*5546_*5547insGCAC, NM_005359.5:c.*5546_*5547insGCACAC, NM_005359.5:c.*5546_*5547insGCACACAC, NM_005359.5:c.*5546_*5547insGCACACACAC, NM_005359.5:c.*5546_*5547insGCACACACACAC, NM_005359.5:c.*5546_*5547insGCACACACACACAC, NM_005359.5:c.*5546_*5547insGCACACACACACACAC, NM_005359.5:c.*5546CG[2]CAC[1], NM_005359.5:c.*5546CG[2]CA[2]C[1], NM_005359.5:c.*5546CG[2]CA[3]C[1], NR_176265.1:n.7856_7857insGCAC, NR_176265.1:n.7856_7857insGCACAC, NR_176265.1:n.7856_7857insGCACACAC, NR_176265.1:n.7856_7857insGCACACACAC, NR_176265.1:n.7856_7857insGCACACACACAC, NR_176265.1:n.7856_7857insGCACACACACACAC, NR_176265.1:n.7856_7857insGCACACACACACACAC, NR_176265.1:n.7856CG[2]CAC[1], NR_176265.1:n.7856CG[2]CA[2]C[1], NR_176265.1:n.7856CG[2]CA[3]C[1], NM_001407042.1:c.*5546_*5547insGCAC, NM_001407042.1:c.*5546_*5547insGCACAC, NM_001407042.1:c.*5546_*5547insGCACACAC, NM_001407042.1:c.*5546_*5547insGCACACACAC, NM_001407042.1:c.*5546_*5547insGCACACACACAC, NM_001407042.1:c.*5546_*5547insGCACACACACACAC, NM_001407042.1:c.*5546_*5547insGCACACACACACACAC, NM_001407042.1:c.*5546CG[2]CAC[1], NM_001407042.1:c.*5546CG[2]CA[2]C[1], NM_001407042.1:c.*5546CG[2]CA[3]C[1], NM_001407041.1:c.*5546_*5547insGCAC, NM_001407041.1:c.*5546_*5547insGCACAC, NM_001407041.1:c.*5546_*5547insGCACACAC, NM_001407041.1:c.*5546_*5547insGCACACACAC, NM_001407041.1:c.*5546_*5547insGCACACACACAC, NM_001407041.1:c.*5546_*5547insGCACACACACACAC, NM_001407041.1:c.*5546_*5547insGCACACACACACACAC, NM_001407041.1:c.*5546CG[2]CAC[1], NM_001407041.1:c.*5546CG[2]CA[2]C[1], NM_001407041.1:c.*5546CG[2]CA[3]C[1]

Select item 14913836596.

rs1491383659 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 18:51083449 (GRCh38)
18:48609819 (GRCh37)
Canonical SPDI:: NC_000018.10:51083448:CT:
Gene:: SMAD4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.51083449_51083450del, NC_000018.9:g.48609819_48609820del, NG_013013.2:g.120410_120411del, NM_005359.6:c.*4982_*4983del, NM_005359.5:c.*4982_*4983del, NR_176265.1:n.7292_7293del, NM_001407042.1:c.*4982_*4983del, NM_001407041.1:c.*4982_*4983del

Select item 14913802737.

rs1491380273 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTCCCTCC [Show Flanks]
Chromosome:: 18:51042301 (GRCh38)
18:48568672 (GRCh37)
Canonical SPDI:: NC_000018.10:51042301:TCC:TCCTTCCCTCC
Gene:: SMAD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCCTTCCCTCC=0./0 (ALFA)
HGVS:: NC_000018.10:g.51042304_51042305insTTCCCTCC, NC_000018.9:g.48568674_48568675insTTCCCTCC, NG_013013.2:g.79265_79266insTTCCCTCC

Select item 14913372728.

rs1491337272 has merged into rs374538576 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 18:51038259 (GRCh38)
18:48564629 (GRCh37)
Canonical SPDI:: NC_000018.10:51038251:GGGGGGGGGGG:GGGGGGG,NC_000018.10:51038251:GGGGGGGGGGG:GGGGGGGGG,NC_000018.10:51038251:GGGGGGGGGGG:GGGGGGGGGG,NC_000018.10:51038251:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000018.10:51038251:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000018.10:51038251:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000018.10:51038251:GGGGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: SMAD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
G=0.191525/113 (NorthernSweden)
G=0.25/10 (GENOME_DK)
HGVS:: NC_000018.10:g.51038259_51038262del, NC_000018.10:g.51038261_51038262del, NC_000018.10:g.51038262del, NC_000018.10:g.51038262dup, NC_000018.10:g.51038261_51038262dup, NC_000018.10:g.51038260_51038262dup, NC_000018.10:g.51038259_51038262dup, NC_000018.9:g.48564629_48564632del, NC_000018.9:g.48564631_48564632del, NC_000018.9:g.48564632del, NC_000018.9:g.48564632dup, NC_000018.9:g.48564631_48564632dup, NC_000018.9:g.48564630_48564632dup, NC_000018.9:g.48564629_48564632dup, NG_013013.2:g.75220_75223del, NG_013013.2:g.75222_75223del, NG_013013.2:g.75223del, NG_013013.2:g.75223dup, NG_013013.2:g.75222_75223dup, NG_013013.2:g.75221_75223dup, NG_013013.2:g.75220_75223dup

Select item 14912800639.

rs1491280063 has merged into rs386387676 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 18:51058499 (GRCh38)
18:48584869 (GRCh37)
Canonical SPDI:: NC_000018.10:51058485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:51058485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:51058485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:51058485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:51058485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:51058485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:51058485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:51058485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:51058485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:51058485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: SMAD4 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign,benign-likely-benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0694/194 (1000Genomes)
HGVS:: NC_000018.10:g.51058499_51058501del, NC_000018.10:g.51058500_51058501del, NC_000018.10:g.51058501del, NC_000018.10:g.51058501dup, NC_000018.10:g.51058500_51058501dup, NC_000018.10:g.51058499_51058501dup, NC_000018.10:g.51058498_51058501dup, NC_000018.10:g.51058497_51058501dup, NC_000018.10:g.51058496_51058501dup, NC_000018.10:g.51058495_51058501dup, NC_000018.9:g.48584869_48584871del, NC_000018.9:g.48584870_48584871del, NC_000018.9:g.48584871del, NC_000018.9:g.48584871dup, NC_000018.9:g.48584870_48584871dup, NC_000018.9:g.48584869_48584871dup, NC_000018.9:g.48584868_48584871dup, NC_000018.9:g.48584867_48584871dup, NC_000018.9:g.48584866_48584871dup, NC_000018.9:g.48584865_48584871dup, NG_013013.2:g.95460_95462del, NG_013013.2:g.95461_95462del, NG_013013.2:g.95462del, NG_013013.2:g.95462dup, NG_013013.2:g.95461_95462dup, NG_013013.2:g.95460_95462dup, NG_013013.2:g.95459_95462dup, NG_013013.2:g.95458_95462dup, NG_013013.2:g.95457_95462dup, NG_013013.2:g.95456_95462dup

Select item 149126931310.

rs1491269313 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG,TG [Show Flanks]
Chromosome:: 18:51038254 (GRCh38)
18:48564625 (GRCh37)
Canonical SPDI:: NC_000018.10:51038254:G:GCG,NC_000018.10:51038254:G:GTG
Gene:: SMAD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
GC=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.51038255_51038256insCG, NC_000018.10:g.51038255_51038256insTG, NC_000018.9:g.48564625_48564626insCG, NC_000018.9:g.48564625_48564626insTG, NG_013013.2:g.75216_75217insCG, NG_013013.2:g.75216_75217insTG

Select item 149120334111.

rs1491203341 has merged into rs3220198 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACACACACAA,CACACACACACACAA,CACACACACACACACACACAA,CACACACACACACACACACACAA,CACACACACACACACACACACACACAA,CACACACACACACACACACACACACACAA,CACACACACACACACACACACACACACACAA,CACACACACACACACACACACACACACACACAA,CACACACACACACACACACACACACACACACACAA,CACAGA,CAGA [Show Flanks]
Chromosome:: 18:51084043 (GRCh38)
18:48610414 (GRCh37)
Canonical SPDI:: NC_000018.10:51084043:A:ACACACACACACAA,NC_000018.10:51084043:A:ACACACACACACACAA,NC_000018.10:51084043:A:ACACACACACACACACACACAA,NC_000018.10:51084043:A:ACACACACACACACACACACACAA,NC_000018.10:51084043:A:ACACACACACACACACACACACACACAA,NC_000018.10:51084043:A:ACACACACACACACACACACACACACACAA,NC_000018.10:51084043:A:ACACACACACACACACACACACACACACACAA,NC_000018.10:51084043:A:ACACACACACACACACACACACACACACACACAA,NC_000018.10:51084043:A:ACACACACACACACACACACACACACACACACACAA,NC_000018.10:51084043:A:ACACAGA,NC_000018.10:51084043:A:ACAGA
Gene:: SMAD4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAGA=0./0 (ALFA)
ACAG=0.000004/1 (TOPMED)
ACAG=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.51084044AC[6]AA[1], NC_000018.10:g.51084044AC[7]AA[1], NC_000018.10:g.51084044AC[10]AA[1], NC_000018.10:g.51084044AC[11]AA[1], NC_000018.10:g.51084044AC[13]AA[1], NC_000018.10:g.51084044AC[14]AA[1], NC_000018.10:g.51084044AC[15]AA[1], NC_000018.10:g.51084044AC[16]AA[1], NC_000018.10:g.51084044AC[17]AA[1], NC_000018.10:g.51084044AC[2]AGA[1], NC_000018.10:g.51084044_51084045insCAGA, NC_000018.9:g.48610414AC[6]AA[1], NC_000018.9:g.48610414AC[7]AA[1], NC_000018.9:g.48610414AC[10]AA[1], NC_000018.9:g.48610414AC[11]AA[1], NC_000018.9:g.48610414AC[13]AA[1], NC_000018.9:g.48610414AC[14]AA[1], NC_000018.9:g.48610414AC[15]AA[1], NC_000018.9:g.48610414AC[16]AA[1], NC_000018.9:g.48610414AC[17]AA[1], NC_000018.9:g.48610414AC[2]AGA[1], NC_000018.9:g.48610414_48610415insCAGA, NG_013013.2:g.121005AC[6]AA[1], NG_013013.2:g.121005AC[7]AA[1], NG_013013.2:g.121005AC[10]AA[1], NG_013013.2:g.121005AC[11]AA[1], NG_013013.2:g.121005AC[13]AA[1], NG_013013.2:g.121005AC[14]AA[1], NG_013013.2:g.121005AC[15]AA[1], NG_013013.2:g.121005AC[16]AA[1], NG_013013.2:g.121005AC[17]AA[1], NG_013013.2:g.121005AC[2]AGA[1], NG_013013.2:g.121005_121006insCAGA, NM_005359.6:c.*5577AC[6]AA[1], NM_005359.6:c.*5577AC[7]AA[1], NM_005359.6:c.*5577AC[10]AA[1], NM_005359.6:c.*5577AC[11]AA[1], NM_005359.6:c.*5577AC[13]AA[1], NM_005359.6:c.*5577AC[14]AA[1], NM_005359.6:c.*5577AC[15]AA[1], NM_005359.6:c.*5577AC[16]AA[1], NM_005359.6:c.*5577AC[17]AA[1], NM_005359.6:c.*5577AC[2]AGA[1], NM_005359.6:c.*5577_*5578insCAGA, NM_005359.5:c.*5577AC[6]AA[1], NM_005359.5:c.*5577AC[7]AA[1], NM_005359.5:c.*5577AC[10]AA[1], NM_005359.5:c.*5577AC[11]AA[1], NM_005359.5:c.*5577AC[13]AA[1], NM_005359.5:c.*5577AC[14]AA[1], NM_005359.5:c.*5577AC[15]AA[1], NM_005359.5:c.*5577AC[16]AA[1], NM_005359.5:c.*5577AC[17]AA[1], NM_005359.5:c.*5577AC[2]AGA[1], NM_005359.5:c.*5577_*5578insCAGA, NR_176265.1:n.7887AC[6]AA[1], NR_176265.1:n.7887AC[7]AA[1], NR_176265.1:n.7887AC[10]AA[1], NR_176265.1:n.7887AC[11]AA[1], NR_176265.1:n.7887AC[13]AA[1], NR_176265.1:n.7887AC[14]AA[1], NR_176265.1:n.7887AC[15]AA[1], NR_176265.1:n.7887AC[16]AA[1], NR_176265.1:n.7887AC[17]AA[1], NR_176265.1:n.7887AC[2]AGA[1], NR_176265.1:n.7887_7888insCAGA, NM_001407042.1:c.*5577AC[6]AA[1], NM_001407042.1:c.*5577AC[7]AA[1], NM_001407042.1:c.*5577AC[10]AA[1], NM_001407042.1:c.*5577AC[11]AA[1], NM_001407042.1:c.*5577AC[13]AA[1], NM_001407042.1:c.*5577AC[14]AA[1], NM_001407042.1:c.*5577AC[15]AA[1], NM_001407042.1:c.*5577AC[16]AA[1], NM_001407042.1:c.*5577AC[17]AA[1], NM_001407042.1:c.*5577AC[2]AGA[1], NM_001407042.1:c.*5577_*5578insCAGA, NM_001407041.1:c.*5577AC[6]AA[1], NM_001407041.1:c.*5577AC[7]AA[1], NM_001407041.1:c.*5577AC[10]AA[1], NM_001407041.1:c.*5577AC[11]AA[1], NM_001407041.1:c.*5577AC[13]AA[1], NM_001407041.1:c.*5577AC[14]AA[1], NM_001407041.1:c.*5577AC[15]AA[1], NM_001407041.1:c.*5577AC[16]AA[1], NM_001407041.1:c.*5577AC[17]AA[1], NM_001407041.1:c.*5577AC[2]AGA[1], NM_001407041.1:c.*5577_*5578insCAGA

Select item 149116861912.

rs1491168619 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G,GG [Show Flanks]
Chromosome:: 18:51038249 (GRCh38)
18:48564620 (GRCh37)
Canonical SPDI:: NC_000018.10:51038249:G:GG,NC_000018.10:51038249:G:GGG
Gene:: SMAD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
HGVS:: NC_000018.10:g.51038250dup, NC_000018.10:g.51038250_51038251insGG, NC_000018.9:g.48564620dup, NC_000018.9:g.48564620_48564621insGG, NG_013013.2:g.75211dup, NG_013013.2:g.75211_75212insGG

Select item 149109156513.

rs1491091565 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 18:51038251 (GRCh38)
18:48564621 (GRCh37)
Canonical SPDI:: NC_000018.10:51038248:TGTG:TG
Gene:: SMAD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTG=0.00008/1 (ALFA)
HGVS:: NC_000018.10:g.51038249TG[1], NC_000018.9:g.48564619TG[1], NG_013013.2:g.75210TG[1]

Select item 149102993114.

rs1491029931 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 18:51084044 (GRCh38)
18:48610414 (GRCh37)
Canonical SPDI:: NC_000018.10:51084043:AG:
Gene:: SMAD4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000184/3 (ALFA)
-=0.000146/20 (GnomAD)
HGVS:: NC_000018.10:g.51084044_51084045del, NC_000018.9:g.48610414_48610415del, NG_013013.2:g.121005_121006del, NM_005359.6:c.*5577_*5578del, NM_005359.5:c.*5577_*5578del, NR_176265.1:n.7887_7888del, NM_001407042.1:c.*5577_*5578del, NM_001407041.1:c.*5577_*5578del

Select item 149089112615.

rs1490891126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:51070179 (GRCh38)
18:48596549 (GRCh37)
Canonical SPDI:: NC_000018.10:51070178:G:A
Gene:: SMAD4 (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_000018.10:g.51070179G>A, NC_000018.9:g.48596549G>A, NG_013013.2:g.107140G>A

Select item 149088468816.

rs1490884688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:51046560 (GRCh38)
18:48572930 (GRCh37)
Canonical SPDI:: NC_000018.10:51046559:G:A
Gene:: SMAD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000018.10:g.51046560G>A, NC_000018.9:g.48572930G>A, NG_013013.2:g.83521G>A

Select item 149084230317.

rs1490842303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:51056740 (GRCh38)
18:48583110 (GRCh37)
Canonical SPDI:: NC_000018.10:51056739:G:A,NC_000018.10:51056739:G:C
Gene:: SMAD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000018.10:g.51056740G>A, NC_000018.10:g.51056740G>C, NC_000018.9:g.48583110G>A, NC_000018.9:g.48583110G>C, NG_013013.2:g.93701G>A, NG_013013.2:g.93701G>C

Select item 149081644418.

rs1490816444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:51062888 (GRCh38)
18:48589258 (GRCh37)
Canonical SPDI:: NC_000018.10:51062887:C:T
Gene:: SMAD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00012/11 (GnomAD)
T=0.00036/10 (TOMMO)
T=0.00411/12 (KOREAN)
HGVS:: NC_000018.10:g.51062888C>T, NC_000018.9:g.48589258C>T, NG_013013.2:g.99849C>T

Select item 149079272819.

rs1490792728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:51030630 (GRCh38)
18:48557000 (GRCh37)
Canonical SPDI:: NC_000018.10:51030629:G:T
Gene:: SMAD4 (Varview), LOC107985152 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000018.10:g.51030630G>T, NC_000018.9:g.48557000G>T, NG_013013.2:g.67591G>T

Select item 149077378920.

rs1490773789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:51041665 (GRCh38)
18:48568035 (GRCh37)
Canonical SPDI:: NC_000018.10:51041664:G:T
Gene:: SMAD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.51041665G>T, NC_000018.9:g.48568035G>T, NG_013013.2:g.78626G>T

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