SNP Links for Gene (Select 94059) - SNP

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:54464932 (GRCh38)
19:54976116 (GRCh37)
Canonical SPDI:: NC_000019.10:54464931:C:G
Gene:: LENG9 (Varview), CDC42EP5 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.54464932C>G, NW_004166865.1:g.439299C>G, NT_187693.1:g.447230C>G, NC_000019.9:g.54976116C>G, NW_003571060.1:g.369624C>G, NW_003571054.1:g.371445C>G

Select item 148642751312.

rs1486427513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:54462692 (GRCh38)
19:54973872 (GRCh37)
Canonical SPDI:: NC_000019.10:54462691:A:G,NC_000019.10:54462691:A:T
Gene:: LENG9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54462692A>G, NC_000019.10:g.54462692A>T, NW_004166865.1:g.437059A>G, NW_004166865.1:g.437059A>T, NT_187693.1:g.444986A>G, NT_187693.1:g.444986A>T, NC_000019.9:g.54973872A>G, NC_000019.9:g.54973872A>T, NW_003571060.1:g.367380A>G, NW_003571060.1:g.367380A>T, NW_003571054.1:g.369206A>G, NW_003571054.1:g.369206A>T, NM_001301782.2:c.835T>C, NM_001301782.2:c.835T>A, NM_001301782.1:c.835T>C, NM_001301782.1:c.835T>A, NM_198988.2:c.904T>C, NM_198988.2:c.904T>A, XM_045181402.2:c.904T>C, XM_045181402.2:c.904T>A, XM_045181402.1:c.904T>C, XM_045181402.1:c.904T>A, XM_045181401.2:c.904T>C, XM_045181401.2:c.904T>A, XM_045181401.1:c.904T>C, XM_045181401.1:c.904T>A, NM_198988.1:c.904T>C, NM_198988.1:c.904T>A, NP_001288711.1:p.Trp279Arg, NP_001288711.1:p.Trp279Arg

Select item 148639425113.

rs1486394251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:54462653 (GRCh38)
19:54973833 (GRCh37)
Canonical SPDI:: NC_000019.10:54462652:G:A,NC_000019.10:54462652:G:C
Gene:: LENG9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.54462653G>A, NC_000019.10:g.54462653G>C, NW_004166865.1:g.437020G>A, NW_004166865.1:g.437020G>C, NT_187693.1:g.444947G>A, NT_187693.1:g.444947G>C, NC_000019.9:g.54973833G>A, NC_000019.9:g.54973833G>C, NW_003571060.1:g.367341G>A, NW_003571060.1:g.367341G>C, NW_003571054.1:g.369167G>A, NW_003571054.1:g.369167G>C, NM_001301782.2:c.874C>T, NM_001301782.2:c.874C>G, NM_001301782.1:c.874C>T, NM_001301782.1:c.874C>G, NM_198988.2:c.943C>T, NM_198988.2:c.943C>G, XM_045181402.2:c.943C>T, XM_045181402.2:c.943C>G, XM_045181402.1:c.943C>T, XM_045181402.1:c.943C>G, XM_045181401.2:c.943C>T, XM_045181401.2:c.943C>G, XM_045181401.1:c.943C>T, XM_045181401.1:c.943C>G, NM_198988.1:c.943C>T, NM_198988.1:c.943C>G, NP_001288711.1:p.Pro292Ser, NP_001288711.1:p.Pro292Ala

Select item 148489958514.

rs1484899585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:54462098 (GRCh38)
19:54973278 (GRCh37)
Canonical SPDI:: NC_000019.10:54462097:G:A,NC_000019.10:54462097:G:T
Gene:: LENG9 (Varview), LENG8 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000019.10:g.54462098G>A, NC_000019.10:g.54462098G>T, NW_004166865.1:g.436465G>A, NW_004166865.1:g.436465G>T, NT_187693.1:g.444392G>A, NT_187693.1:g.444392G>T, NC_000019.9:g.54973278G>A, NC_000019.9:g.54973278G>T, NW_003571060.1:g.366786G>A, NW_003571060.1:g.366786G>T, NW_003571054.1:g.368612G>A, NW_003571054.1:g.368612G>T, NM_001301782.2:c.1429C>T, NM_001301782.2:c.1429C>A, NM_001301782.1:c.1429C>T, NM_001301782.1:c.1429C>A, NM_198988.2:c.1498C>T, NM_198988.2:c.1498C>A, XM_045181402.2:c.1498C>T, XM_045181402.2:c.1498C>A, XM_045181402.1:c.1498C>T, XM_045181402.1:c.1498C>A, XM_045181401.2:c.1498C>T, XM_045181401.2:c.1498C>A, XM_045181401.1:c.1498C>T, XM_045181401.1:c.1498C>A, NM_198988.1:c.1498C>T, NM_198988.1:c.1498C>A, NP_001288711.1:p.Leu477Met

Select item 148482890015.

rs1484828900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:54465427 (GRCh38)
19:54976611 (GRCh37)
Canonical SPDI:: NC_000019.10:54465426:C:G
Gene:: LENG9 (Varview), CDC42EP5 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.54465427C>G, NW_004166865.1:g.439794C>G, NT_187693.1:g.447725C>G, NC_000019.9:g.54976611C>G, NW_003571060.1:g.370119C>G, NW_003571054.1:g.371940C>G, NM_145057.4:c.121G>C, NM_145057.3:c.121G>C, NM_145057.2:c.121G>C, NP_659494.2:p.Asp41His

Select item 148451903716.

rs1484519037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54462014 (GRCh38)
19:54973194 (GRCh37)
Canonical SPDI:: NC_000019.10:54462013:G:A
Gene:: LENG9 (Varview), LENG8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.54462014G>A, NW_004166865.1:g.436381G>A, NT_187693.1:g.444308G>A, NC_000019.9:g.54973194G>A, NW_003571060.1:g.366702G>A, NW_003571054.1:g.368528G>A, XM_005278250.6:c.*3108G>A, XM_005278250.5:c.*3108G>A, XM_005278250.4:c.*3108G>A, XM_005278252.6:c.*3108G>A, XM_005278252.5:c.*3108G>A, XM_005278252.4:c.*3108G>A, XM_006722997.5:c.*3108G>A, XM_006722997.4:c.*3108G>A, XM_006722997.3:c.*3108G>A, XM_011526414.4:c.*3108G>A, XM_011526414.3:c.*3108G>A, XM_011526414.2:c.*3108G>A, NM_052925.4:c.*1086G>A, NM_052925.3:c.*1086G>A, NM_052925.2:c.*1086G>A, XM_011526415.4:c.*1086G>A, XM_011526415.3:c.*1086G>A, XM_011526415.2:c.*1086G>A, XM_011526415.1:c.*1086G>A, NM_001301782.2:c.*76C>T, NM_001301782.1:c.*76C>T, NM_198988.2:c.*76C>T, XM_045181402.2:c.*76C>T, XM_045181402.1:c.*76C>T, XM_045181401.2:c.*76C>T, XM_045181401.1:c.*76C>T, NM_001375638.1:c.*3108G>A, NM_001375641.1:c.*3108G>A, NM_001375640.1:c.*3108G>A, NM_001375639.1:c.*3108G>A, XM_047438123.1:c.*3108G>A, NM_001411063.1:c.*3108G>A, XM_047438124.1:c.*1086G>A, XM_047438126.1:c.*1086G>A, XM_047438125.1:c.*1086G>A, XM_047438127.1:c.*1086G>A, NM_198988.1:c.*76C>T

Select item 148442565017.

rs1484425650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54462267 (GRCh38)
19:54973447 (GRCh37)
Canonical SPDI:: NC_000019.10:54462266:C:T
Gene:: LENG9 (Varview), LENG8 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54462267C>T, NW_004166865.1:g.436634C>T, NT_187693.1:g.444561C>T, NC_000019.9:g.54973447C>T, NW_003571060.1:g.366955C>T, NW_003571054.1:g.368781C>T, NM_001301782.2:c.1260G>A, NM_001301782.1:c.1260G>A, NM_198988.2:c.1329G>A, XM_045181402.2:c.1329G>A, XM_045181402.1:c.1329G>A, XM_045181401.2:c.1329G>A, XM_045181401.1:c.1329G>A, NM_198988.1:c.1329G>A

Select item 148433165218.

rs1484331652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54463569 (GRCh38)
19:54974752 (GRCh37)
Canonical SPDI:: NC_000019.10:54463568:C:T
Gene:: LENG9 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54463569C>T, NW_004166865.1:g.437936C>T, NT_187693.1:g.445866C>T, NC_000019.9:g.54974752C>T, NW_003571060.1:g.368260C>T, NW_003571054.1:g.370083C>T, NM_001301782.2:c.-43G>A, NM_001301782.1:c.-43G>A, NM_198988.2:c.24G>A, XM_045181402.2:c.24G>A, XM_045181402.1:c.24G>A, XM_045181401.2:c.24G>A, XM_045181401.1:c.24G>A, NM_198988.1:c.24G>A

Select item 148393830419.

rs1483938304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:54464338 (GRCh38)
19:54975522 (GRCh37)
Canonical SPDI:: NC_000019.10:54464337:T:A,NC_000019.10:54464337:T:C
Gene:: LENG9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.54464338T>A, NC_000019.10:g.54464338T>C, NW_004166865.1:g.438705T>A, NW_004166865.1:g.438705T>C, NT_187693.1:g.446636T>A, NT_187693.1:g.446636T>C, NC_000019.9:g.54975522T>A, NC_000019.9:g.54975522T>C, NW_003571060.1:g.369030T>A, NW_003571060.1:g.369030T>C, NW_003571054.1:g.370851T>A, NW_003571054.1:g.370851T>C

Select item 148311123620.

rs1483111236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54462377 (GRCh38)
19:54973557 (GRCh37)
Canonical SPDI:: NC_000019.10:54462376:C:T
Gene:: LENG9 (Varview), LENG8 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_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_000019.10:g.54462377C>T, NW_004166865.1:g.436744C>T, NT_187693.1:g.444671C>T, NC_000019.9:g.54973557C>T, NW_003571060.1:g.367065C>T, NW_003571054.1:g.368891C>T, NM_001301782.2:c.1150G>A, NM_001301782.1:c.1150G>A, NM_198988.2:c.1219G>A, XM_045181402.2:c.1219G>A, XM_045181402.1:c.1219G>A, XM_045181401.2:c.1219G>A, XM_045181401.1:c.1219G>A, NM_198988.1:c.1219G>A, NP_001288711.1:p.Gly384Ser

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Result Filters

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Items: 1 to 20 of 2041

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