SNP Links for Gene (Select 3914) - SNP

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Select item 14915285281.

rs1491528528 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 1:209641098 (GRCh38)
1:209814444 (GRCh37)
Canonical SPDI:: NC_000001.11:209641098::AT
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AT=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.209641098_209641099insAT, NC_000001.10:g.209814443_209814444insAT, NG_007116.1:g.16377_16378insAT

Select item 14913829082.

rs1491382908 has merged into rs61080331 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 1:209641095 (GRCh38)
1:209814440 (GRCh37)
Canonical SPDI:: NC_000001.11:209641082:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:209641082:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:209641082:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:209641082:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:209641082:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:209641082:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0571/220 (ALSPAC)
A=0.4052/2029 (1000Genomes)
HGVS:: NC_000001.11:g.209641095_209641098del, NC_000001.11:g.209641096_209641098del, NC_000001.11:g.209641097_209641098del, NC_000001.11:g.209641098del, NC_000001.11:g.209641098dup, NC_000001.11:g.209641097_209641098dup, NC_000001.10:g.209814440_209814443del, NC_000001.10:g.209814441_209814443del, NC_000001.10:g.209814442_209814443del, NC_000001.10:g.209814443del, NC_000001.10:g.209814443dup, NC_000001.10:g.209814442_209814443dup, NG_007116.1:g.16390_16393del, NG_007116.1:g.16391_16393del, NG_007116.1:g.16392_16393del, NG_007116.1:g.16393del, NG_007116.1:g.16393dup, NG_007116.1:g.16392_16393dup

Select item 14912906393.

rs1491290639 has merged into rs753607815 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 1:209633573 (GRCh38)
1:209806918 (GRCh37)
Canonical SPDI:: NC_000001.11:209633562:AAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:209633562:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:209633562:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:209633562:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.209633573_209633574del, NC_000001.11:g.209633574del, NC_000001.11:g.209633574dup, NC_000001.11:g.209633573_209633574dup, NC_000001.10:g.209806918_209806919del, NC_000001.10:g.209806919del, NC_000001.10:g.209806919dup, NC_000001.10:g.209806918_209806919dup, NG_007116.1:g.23912_23913del, NG_007116.1:g.23913del, NG_007116.1:g.23913dup, NG_007116.1:g.23912_23913dup

Select item 14912297924.

rs1491229792 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:209641082 (GRCh38)
1:209814427 (GRCh37)
Canonical SPDI:: NC_000001.11:209641081:CA:
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00093/26 (TOMMO)
HGVS:: NC_000001.11:g.209641082_209641083del, NC_000001.10:g.209814427_209814428del, NG_007116.1:g.16393_16394del

Select item 14911251995.

rs1491125199 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:209641098 (GRCh38)
1:209814443 (GRCh37)
Canonical SPDI:: NC_000001.11:209641097:AT:
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000184/3 (ALFA)
-=0.000704/83 (GnomAD)
HGVS:: NC_000001.11:g.209641098_209641099del, NC_000001.10:g.209814443_209814444del, NG_007116.1:g.16377_16378del

Select item 14909924456.

rs1490992445 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:209642453 (GRCh38)
1:209815798 (GRCh37)
Canonical SPDI:: NC_000001.11:209642452:TT:T
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.209642454del, NC_000001.10:g.209815799del, NG_007116.1:g.15023del

Select item 14909590977.

rs1490959097 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:209626780 (GRCh38)
1:209800125 (GRCh37)
Canonical SPDI:: NC_000001.11:209626779:T:C
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_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_000001.11:g.209626780T>C, NC_000001.10:g.209800125T>C, NG_007116.1:g.30696A>G

Select item 14909337458.

rs1490933745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:209627739 (GRCh38)
1:209801084 (GRCh37)
Canonical SPDI:: NC_000001.11:209627738:C:A
Gene:: LAMB3 (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_000001.11:g.209627739C>A, NC_000001.10:g.209801084C>A, NG_007116.1:g.29737G>T

Select item 14908594039.

rs1490859403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:209643331 (GRCh38)
1:209816676 (GRCh37)
Canonical SPDI:: NC_000001.11:209643330:C:T
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.209643331C>T, NC_000001.10:g.209816676C>T, NG_007116.1:g.14145G>A

Select item 149076227510.

rs1490762275 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:209627302 (GRCh38)
1:209800647 (GRCh37)
Canonical SPDI:: NC_000001.11:209627301:A:C
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.209627302A>C, NC_000001.10:g.209800647A>C, NG_007116.1:g.30174T>G

Select item 149067660311.

rs1490676603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:209618680 (GRCh38)
1:209792025 (GRCh37)
Canonical SPDI:: NC_000001.11:209618679:G:A
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.209618680G>A, NC_000001.10:g.209792025G>A, NG_007116.1:g.38796C>T

Select item 149025410012.

rs1490254100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:209625410 (GRCh38)
1:209798755 (GRCh37)
Canonical SPDI:: NC_000001.11:209625409:C:T
Gene:: LAMB3 (Varview), MIR4260 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.209625410C>T, NC_000001.10:g.209798755C>T, NG_007116.1:g.32066G>A

Select item 149010378713.

rs1490103787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:209637869 (GRCh38)
1:209811214 (GRCh37)
Canonical SPDI:: NC_000001.11:209637868:A:T
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.209637869A>T, NC_000001.10:g.209811214A>T, NG_007116.1:g.19607T>A

Select item 149008043914.

rs1490080439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:209646064 (GRCh38)
1:209819409 (GRCh37)
Canonical SPDI:: NC_000001.11:209646063:G:A
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.209646064G>A, NC_000001.10:g.209819409G>A, NG_007116.1:g.11412C>T

Select item 149006705715.

rs1490067057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:209648337 (GRCh38)
1:209821682 (GRCh37)
Canonical SPDI:: NC_000001.11:209648336:G:A
Gene:: LAMB3 (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_000001.11:g.209648337G>A, NC_000001.10:g.209821682G>A, NG_007116.1:g.9139C>T

Select item 149000914116.

rs1490009141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:209642942 (GRCh38)
1:209816287 (GRCh37)
Canonical SPDI:: NC_000001.11:209642941:G:A
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.209642942G>A, NC_000001.10:g.209816287G>A, NG_007116.1:g.14534C>T

Select item 148999522717.

rs1489995227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:209641529 (GRCh38)
1:209814874 (GRCh37)
Canonical SPDI:: NC_000001.11:209641528:C:T
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.209641529C>T, NC_000001.10:g.209814874C>T, NG_007116.1:g.15947G>A

Select item 148994865118.

rs1489948651 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:209640567 (GRCh38)
1:209813912 (GRCh37)
Canonical SPDI:: NC_000001.11:209640566:A:C,NC_000001.11:209640566:A:T
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.209640567A>C, NC_000001.11:g.209640567A>T, NC_000001.10:g.209813912A>C, NC_000001.10:g.209813912A>T, NG_007116.1:g.16909T>G, NG_007116.1:g.16909T>A

Select item 148943226719.

rs1489432267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:209647925 (GRCh38)
1:209821270 (GRCh37)
Canonical SPDI:: NC_000001.11:209647924:C:T
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_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_000001.11:g.209647925C>T, NC_000001.10:g.209821270C>T, NG_007116.1:g.9551G>A

Select item 148938776720.

rs1489387767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:209647145 (GRCh38)
1:209820490 (GRCh37)
Canonical SPDI:: NC_000001.11:209647144:A:G,NC_000001.11:209647144:A:T
Gene:: LAMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.209647145A>G, NC_000001.11:g.209647145A>T, NC_000001.10:g.209820490A>G, NC_000001.10:g.209820490A>T, NG_007116.1:g.10331T>C, NG_007116.1:g.10331T>A

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