SNP Links for Gene (Select 203190) - SNP

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Select item 14914924081.

rs1491492408 has merged into rs59250695 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 8:22153737 (GRCh38)
8:22011250 (GRCh37)
Canonical SPDI:: NC_000008.11:22153725:ACACACACACACA:ACACACACACA,NC_000008.11:22153725:ACACACACACACA:ACACACACACACACA
Gene:: LGI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000008.11:g.22153727CA[5], NC_000008.11:g.22153727CA[7], NC_000008.10:g.22011240CA[5], NC_000008.10:g.22011240CA[7]

Select item 14909596572.

rs1490959657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:22147509 (GRCh38)
8:22005022 (GRCh37)
Canonical SPDI:: NC_000008.11:22147508:G:A
Gene:: LGI3 (Varview)
Functional Consequence:: 3_prime_UTR_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_000008.11:g.22147509G>A, NC_000008.10:g.22005022G>A, NM_139278.4:c.*651C>T, NM_139278.3:c.*651C>T, NM_139278.2:c.*651C>T

Select item 14904460603.

rs1490446060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22148265 (GRCh38)
8:22005778 (GRCh37)
Canonical SPDI:: NC_000008.11:22148264:C:T
Gene:: LGI3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22148265C>T, NC_000008.10:g.22005778C>T, NM_139278.4:c.1542G>A, NM_139278.3:c.1542G>A, NM_139278.2:c.1542G>A

Select item 14904165264.

rs1490416526 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:22155897 (GRCh38)
8:22013410 (GRCh37)
Canonical SPDI:: NC_000008.11:22155896:A:C
Gene:: SFTPC (Varview), LGI3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.22155897A>C, NC_000008.10:g.22013410A>C

Select item 14902164305.

rs1490216430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22155353 (GRCh38)
8:22012866 (GRCh37)
Canonical SPDI:: NC_000008.11:22155352:C:T
Gene:: LGI3 (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_000008.11:g.22155353C>T, NC_000008.10:g.22012866C>T

Select item 14901423776.

rs1490142377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:22146688 (GRCh38)
8:22004201 (GRCh37)
Canonical SPDI:: NC_000008.11:22146687:T:C,NC_000008.11:22146687:T:G
Gene:: LGI3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.22146688T>C, NC_000008.11:g.22146688T>G, NC_000008.10:g.22004201T>C, NC_000008.10:g.22004201T>G

Select item 14900692917.

rs1490069291 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:22155033 (GRCh38)
8:22012546 (GRCh37)
Canonical SPDI:: NC_000008.11:22155032:T:A,NC_000008.11:22155032:T:C
Gene:: LGI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000008.11:g.22155033T>A, NC_000008.11:g.22155033T>C, NC_000008.10:g.22012546T>A, NC_000008.10:g.22012546T>C

Select item 14896112688.

rs1489611268 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 14895931289.

rs1489593128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22150449 (GRCh38)
8:22007962 (GRCh37)
Canonical SPDI:: NC_000008.11:22150448:C:T
Gene:: LGI3 (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_000008.11:g.22150449C>T, NC_000008.10:g.22007962C>T

Select item 148889540210.

rs1488895402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22158146 (GRCh38)
8:22015659 (GRCh37)
Canonical SPDI:: NC_000008.11:22158145:A:G
Gene:: SFTPC (Varview), LGI3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.22158146A>G, NC_000008.10:g.22015659A>G, NG_016968.1:g.1476A>G

Select item 148886956011.

rs1488869560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:22150628 (GRCh38)
8:22008141 (GRCh37)
Canonical SPDI:: NC_000008.11:22150627:G:C
Gene:: LGI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22150628G>C, NC_000008.10:g.22008141G>C

Select item 148883220412.

rs1488832204 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:22151966 (GRCh38)
8:22009479 (GRCh37)
Canonical SPDI:: NC_000008.11:22151965:T:C
Gene:: LGI3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.22151966T>C, NC_000008.10:g.22009479T>C, NM_139278.4:c.529A>G, NM_139278.3:c.529A>G, NM_139278.2:c.529A>G, NP_644807.1:p.Lys177Glu

Select item 148878349213.

rs1488783492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:22157314 (GRCh38)
8:22014827 (GRCh37)
Canonical SPDI:: NC_000008.11:22157313:G:A
Gene:: SFTPC (Varview), LGI3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.22157314G>A, NC_000008.10:g.22014827G>A, NG_016968.1:g.644G>A

Select item 148831705614.

rs1488317056 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 8:22150593 (GRCh38)
8:22008107 (GRCh37)
Canonical SPDI:: NC_000008.11:22150593:GTG:GTGTG
Gene:: LGI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTG=0.000071/1 (ALFA)
GT=0.000004/1 (TOPMED)
GT=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22150595_22150596dup, NC_000008.10:g.22008108_22008109dup

Select item 148820862615.

rs1488208626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22156686 (GRCh38)
8:22014199 (GRCh37)
Canonical SPDI:: NC_000008.11:22156685:C:T
Gene:: SFTPC (Varview), LGI3 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_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_000008.11:g.22156686C>T, NC_000008.10:g.22014199C>T, NG_016968.1:g.16C>T, NM_139278.4:c.-144G>A, NM_139278.3:c.-144G>A, NM_139278.2:c.-144G>A

Select item 148809547216.

rs1488095472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22148193 (GRCh38)
8:22005706 (GRCh37)
Canonical SPDI:: NC_000008.11:22148192:C:T
Gene:: LGI3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22148193C>T, NC_000008.10:g.22005706C>T, NM_139278.4:c.1614G>A, NM_139278.3:c.1614G>A, NM_139278.2:c.1614G>A

Select item 148803119617.

rs1488031196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:22152736 (GRCh38)
8:22010249 (GRCh37)
Canonical SPDI:: NC_000008.11:22152735:G:A,NC_000008.11:22152735:G:T
Gene:: LGI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000036/4 (GnomAD)
T=0.00046/13 (TOMMO)
HGVS:: NC_000008.11:g.22152736G>A, NC_000008.11:g.22152736G>T, NC_000008.10:g.22010249G>A, NC_000008.10:g.22010249G>T

Select item 148798052718.

rs1487980527 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:22150380 (GRCh38)
8:22007893 (GRCh37)
Canonical SPDI:: NC_000008.11:22150379:A:T
Gene:: LGI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00284/47 (TOMMO)
T=0.02262/66 (KOREAN)
HGVS:: NC_000008.11:g.22150380A>T, NC_000008.10:g.22007893A>T

Select item 148787216819.

rs1487872168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:22153274 (GRCh38)
8:22010787 (GRCh37)
Canonical SPDI:: NC_000008.11:22153273:G:A
Gene:: LGI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000008.11:g.22153274G>A, NC_000008.10:g.22010787G>A

Select item 148780605920.

rs1487806059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22157476 (GRCh38)
8:22014989 (GRCh37)
Canonical SPDI:: NC_000008.11:22157475:C:T
Gene:: SFTPC (Varview), LGI3 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_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_000008.11:g.22157476C>T, NC_000008.10:g.22014989C>T, NG_016968.1:g.806C>T, NM_001385656.1:c.-634C>T, NM_001385655.1:c.-634C>T, NM_001385654.1:c.-634C>T, NM_001385658.1:c.-634C>T, NM_001385657.1:c.-634C>T, NM_001385660.1:c.-634C>T

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