SNP Links for Gene (Select 114823) - SNP

Select item 14914630701.

rs1491463070 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:54450639 (GRCh38)
19:54961816 (GRCh37)
Canonical SPDI:: NC_000019.10:54450638:TG:
Gene:: LENG8 (Varview), LENG8-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00039/11 (TOMMO)
HGVS:: NC_000019.10:g.54450639_54450640del, NW_004166865.1:g.425006_425007del, NT_187693.1:g.432930_432931del, NC_000019.9:g.54961816_54961817del, NW_003571060.1:g.355324_355325del, NW_003571054.1:g.357151_357152del

Select item 14913646462.

rs1491364646 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:54453438 (GRCh38)
19:54964617 (GRCh37)
Canonical SPDI:: NC_000019.10:54453437:AG:
Gene:: LENG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.54453438_54453439del, NW_004166865.1:g.427805_427806del, NT_187693.1:g.435731_435732del, NC_000019.9:g.54964617_54964618del, NW_003571060.1:g.358125_358126del, NW_003571054.1:g.359952_359953del

Select item 14913158383.

rs1491315838 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGGTGAGGGATTGGTAG [Show Flanks]
Chromosome:: 19:54453438 (GRCh38)
19:54964618 (GRCh37)
Canonical SPDI:: NC_000019.10:54453438:GGGGTGAGGGATTGGTAG:GGGGTGAGGGATTGGTAGGGGGTGAGGGATTGGTAG
Gene:: LENG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGTGAGGGATTGGTAGGGGGTGAGGGATTGGTAG=0.00599/71 (ALFA)
HGVS:: NC_000019.10:g.54453439_54453456dup, NW_004166865.1:g.427806_427823dup, NT_187693.1:g.435732_435749dup, NC_000019.9:g.54964618_54964635dup, NW_003571060.1:g.358126_358143dup, NW_003571054.1:g.359953_359970dup

Select item 14912934794.

rs1491293479 has merged into rs76642233 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCCCCC [Show Flanks]
Chromosome:: 19:54448015 (GRCh38)
19:54959193 (GRCh37)
Canonical SPDI:: NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCC,NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCCC,NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCCCC,NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC
Gene:: LENG8 (Varview), LENG8-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCCCC=0./0 (ALFA)
-=0.02102/81 (ALSPAC)
-=0.19968/1000 (1000Genomes)
HGVS:: NC_000019.10:g.54448015_54448018del, NC_000019.10:g.54448016_54448018del, NC_000019.10:g.54448017_54448018del, NC_000019.10:g.54448018del, NC_000019.10:g.54448018dup, NC_000019.10:g.54448017_54448018dup, NC_000019.10:g.54448016_54448018dup, NC_000019.10:g.54448012_54448018dup, NW_004166865.1:g.422382_422385del, NW_004166865.1:g.422383_422385del, NW_004166865.1:g.422384_422385del, NW_004166865.1:g.422385del, NW_004166865.1:g.422385dup, NW_004166865.1:g.422384_422385dup, NW_004166865.1:g.422383_422385dup, NW_004166865.1:g.422379_422385dup, NT_187693.1:g.430307_430310del, NT_187693.1:g.430308_430310del, NT_187693.1:g.430309_430310del, NT_187693.1:g.430310del, NT_187693.1:g.430310dup, NT_187693.1:g.430309_430310dup, NT_187693.1:g.430308_430310dup, NT_187693.1:g.430304_430310dup, NC_000019.9:g.54959193_54959196del, NC_000019.9:g.54959194_54959196del, NC_000019.9:g.54959195_54959196del, NC_000019.9:g.54959196del, NC_000019.9:g.54959196dup, NC_000019.9:g.54959195_54959196dup, NC_000019.9:g.54959194_54959196dup, NC_000019.9:g.54959190_54959196dup, NW_003571060.1:g.352704dup, NW_003571060.1:g.352702_352704del, NW_003571060.1:g.352703_352704del, NW_003571060.1:g.352704del, NW_003571060.1:g.352703_352704dup, NW_003571060.1:g.352702_352704dup, NW_003571060.1:g.352701_352704dup, NW_003571060.1:g.352697_352704dup, NW_003571054.1:g.354527_354530del, NW_003571054.1:g.354528_354530del, NW_003571054.1:g.354529_354530del, NW_003571054.1:g.354530del, NW_003571054.1:g.354530dup, NW_003571054.1:g.354529_354530dup, NW_003571054.1:g.354528_354530dup, NW_003571054.1:g.354524_354530dup

Select item 14912049545.

rs1491204954 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 19:54448005 (GRCh38)
19:54959183 (GRCh37)
Canonical SPDI:: NC_000019.10:54448004:AC:
Gene:: LENG8 (Varview), LENG8-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00067/8 (ALFA)
-=0.00014/2 (TOMMO)
HGVS:: NC_000019.10:g.54448005_54448006del, NW_004166865.1:g.422372_422373del, NT_187693.1:g.430297_430298del, NC_000019.9:g.54959183_54959184del, NW_003571060.1:g.352704dup, NW_003571060.1:g.352692del

Select item 14911473826.

rs1491147382 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCG,CG,T [Show Flanks]
Chromosome:: 19:54460593 (GRCh38)
19:54971774 (GRCh37)
Canonical SPDI:: NC_000019.10:54460593::CCG,NC_000019.10:54460593::CG,NC_000019.10:54460593::T
Gene:: LENG8 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CG=0./0 (ALFA)
T=0.000132/35 (TOPMED)
T=0.000143/20 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.54460593_54460594insCCG, NC_000019.10:g.54460593_54460594insCG, NC_000019.10:g.54460593_54460594insT, NW_004166865.1:g.434960_434961insCCG, NW_004166865.1:g.434960_434961insCG, NW_004166865.1:g.434960_434961insT, NT_187693.1:g.442887_442888insCCG, NT_187693.1:g.442887_442888insCG, NT_187693.1:g.442887_442888insT, NC_000019.9:g.54971773_54971774insCCG, NC_000019.9:g.54971773_54971774insCG, NC_000019.9:g.54971773_54971774insT, NW_003571060.1:g.365281_365282insCCG, NW_003571060.1:g.365281_365282insCG, NW_003571060.1:g.365281_365282insT, NW_003571054.1:g.367107_367108insCCG, NW_003571054.1:g.367107_367108insCG, NW_003571054.1:g.367107_367108insT, XM_005278250.6:c.*1687_*1688insCCG, XM_005278250.6:c.*1687_*1688insCG, XM_005278250.6:c.*1687_*1688insT, XM_005278250.5:c.*1687_*1688insCCG, XM_005278250.5:c.*1687_*1688insCG, XM_005278250.5:c.*1687_*1688insT, XM_005278250.4:c.*1687_*1688insCCG, XM_005278250.4:c.*1687_*1688insCG, XM_005278250.4:c.*1687_*1688insT, XM_005278250.3:c.*1687_*1688insCCG, XM_005278250.3:c.*1687_*1688insCG, XM_005278250.3:c.*1687_*1688insT, XM_005278250.2:c.*1687_*1688insCCG, XM_005278250.2:c.*1687_*1688insCG, XM_005278250.2:c.*1687_*1688insT, XM_005278250.1:c.*1687_*1688insCCG, XM_005278250.1:c.*1687_*1688insCG, XM_005278250.1:c.*1687_*1688insT, XM_005278252.6:c.*1687_*1688insCCG, XM_005278252.6:c.*1687_*1688insCG, XM_005278252.6:c.*1687_*1688insT, XM_005278252.5:c.*1687_*1688insCCG, XM_005278252.5:c.*1687_*1688insCG, XM_005278252.5:c.*1687_*1688insT, XM_005278252.4:c.*1687_*1688insCCG, XM_005278252.4:c.*1687_*1688insCG, XM_005278252.4:c.*1687_*1688insT, XM_005278252.3:c.*1687_*1688insCCG, XM_005278252.3:c.*1687_*1688insCG, XM_005278252.3:c.*1687_*1688insT, XM_005278252.2:c.*1687_*1688insCCG, XM_005278252.2:c.*1687_*1688insCG, XM_005278252.2:c.*1687_*1688insT, XM_005278252.1:c.*1687_*1688insCCG, XM_005278252.1:c.*1687_*1688insCG, XM_005278252.1:c.*1687_*1688insT, XM_006722997.5:c.*1687_*1688insCCG, XM_006722997.5:c.*1687_*1688insCG, XM_006722997.5:c.*1687_*1688insT, XM_006722997.4:c.*1687_*1688insCCG, XM_006722997.4:c.*1687_*1688insCG, XM_006722997.4:c.*1687_*1688insT, XM_006722997.3:c.*1687_*1688insCCG, XM_006722997.3:c.*1687_*1688insCG, XM_006722997.3:c.*1687_*1688insT, XM_006722997.2:c.*1687_*1688insCCG, XM_006722997.2:c.*1687_*1688insCG, XM_006722997.2:c.*1687_*1688insT, XM_006722997.1:c.*1687_*1688insCCG, XM_006722997.1:c.*1687_*1688insCG, XM_006722997.1:c.*1687_*1688insT, XM_011526414.4:c.*1687_*1688insCCG, XM_011526414.4:c.*1687_*1688insCG, XM_011526414.4:c.*1687_*1688insT, XM_011526414.3:c.*1687_*1688insCCG, XM_011526414.3:c.*1687_*1688insCG, XM_011526414.3:c.*1687_*1688insT, XM_011526414.2:c.*1687_*1688insCCG, XM_011526414.2:c.*1687_*1688insCG, XM_011526414.2:c.*1687_*1688insT, XM_011526414.1:c.*1687_*1688insCCG, XM_011526414.1:c.*1687_*1688insCG, XM_011526414.1:c.*1687_*1688insT, NM_001375638.1:c.*1687_*1688insCCG, NM_001375638.1:c.*1687_*1688insCG, NM_001375638.1:c.*1687_*1688insT, NM_001375641.1:c.*1687_*1688insCCG, NM_001375641.1:c.*1687_*1688insCG, NM_001375641.1:c.*1687_*1688insT, NM_001375640.1:c.*1687_*1688insCCG, NM_001375640.1:c.*1687_*1688insCG, NM_001375640.1:c.*1687_*1688insT, NM_001375639.1:c.*1687_*1688insCCG, NM_001375639.1:c.*1687_*1688insCG, NM_001375639.1:c.*1687_*1688insT, XM_047438123.1:c.*1687_*1688insCCG, XM_047438123.1:c.*1687_*1688insCG, XM_047438123.1:c.*1687_*1688insT, NM_001411063.1:c.*1687_*1688insCCG, NM_001411063.1:c.*1687_*1688insCG, NM_001411063.1:c.*1687_*1688insT

Select item 14911277987.

rs1491127798 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:54448018 (GRCh38)
19:54959197 (GRCh37)
Canonical SPDI:: NC_000019.10:54448018:A:AA
Gene:: LENG8 (Varview), LENG8-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.00002/2 (GnomAD)
HGVS:: NC_000019.10:g.54448019dup, NW_004166865.1:g.422386dup, NT_187693.1:g.430311dup, NC_000019.9:g.54959197dup, NW_003571060.1:g.352705dup, NW_003571054.1:g.354531dup

Select item 14908614598.

rs1490861459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:54451820 (GRCh38)
19:54962997 (GRCh37)
Canonical SPDI:: NC_000019.10:54451819:G:T
Gene:: LENG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.54451820G>T, NW_004166865.1:g.426187G>T, NT_187693.1:g.434111G>T, NC_000019.9:g.54962997G>T, NW_003571060.1:g.356505G>T, NW_003571054.1:g.358332G>T

Select item 14908209319.

rs1490820931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:54452297 (GRCh38)
19:54963474 (GRCh37)
Canonical SPDI:: NC_000019.10:54452296:C:G,NC_000019.10:54452296:C:T
Gene:: LENG8 (Varview)
Functional Consequence:: intron_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_000019.10:g.54452297C>G, NC_000019.10:g.54452297C>T, NW_004166865.1:g.426664C>G, NW_004166865.1:g.426664C>T, NT_187693.1:g.434588C>G, NT_187693.1:g.434588C>T, NC_000019.9:g.54963474C>G, NC_000019.9:g.54963474C>T, NW_003571060.1:g.356982C>G, NW_003571060.1:g.356982C>T, NW_003571054.1:g.358809C>G, NW_003571054.1:g.358809C>T

Select item 149072215410.

rs1490722154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:54462043 (GRCh38)
19:54973223 (GRCh37)
Canonical SPDI:: NC_000019.10:54462042:T:C
Gene:: LENG9 (Varview), LENG8 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.54462043T>C, NW_004166865.1:g.436410T>C, NT_187693.1:g.444337T>C, NC_000019.9:g.54973223T>C, NW_003571060.1:g.366731T>C, NW_003571054.1:g.368557T>C, NM_052925.3:c.*1115T>C, NM_001301782.2:c.*47A>G, NM_001301782.1:c.*47A>G, NM_198988.2:c.*47A>G, XM_045181402.2:c.*47A>G, XM_045181402.1:c.*47A>G, XM_045181401.2:c.*47A>G, XM_045181401.1:c.*47A>G, NM_198988.1:c.*47A>G

Select item 149062324911.

rs1490623249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:54459304 (GRCh38)
19:54970483 (GRCh37)
Canonical SPDI:: NC_000019.10:54459303:G:C
Gene:: LENG8 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.54459304G>C, NW_004166865.1:g.433671G>C, NT_187693.1:g.441597G>C, NC_000019.9:g.54970483G>C, NW_003571060.1:g.363991G>C, NW_003571054.1:g.365818G>C, XM_005278250.6:c.*398G>C, XM_005278250.5:c.*398G>C, XM_005278250.4:c.*398G>C, XM_005278250.3:c.*398G>C, XM_005278250.2:c.*398G>C, XM_005278250.1:c.*398G>C, XM_005278252.6:c.*398G>C, XM_005278252.5:c.*398G>C, XM_005278252.4:c.*398G>C, XM_005278252.3:c.*398G>C, XM_005278252.2:c.*398G>C, XM_005278252.1:c.*398G>C, XM_006722997.5:c.*398G>C, XM_006722997.4:c.*398G>C, XM_006722997.3:c.*398G>C, XM_006722997.2:c.*398G>C, XM_006722997.1:c.*398G>C, XM_011526414.4:c.*398G>C, XM_011526414.3:c.*398G>C, XM_011526414.2:c.*398G>C, XM_011526414.1:c.*398G>C, NM_001375638.1:c.*398G>C, NM_001375641.1:c.*398G>C, NM_001375640.1:c.*398G>C, NM_001375639.1:c.*398G>C, XM_047438123.1:c.*398G>C, NM_001411063.1:c.*398G>C

Select item 149055948812.

rs1490559488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:54461324 (GRCh38)
19:54972504 (GRCh37)
Canonical SPDI:: NC_000019.10:54461323:C:G,NC_000019.10:54461323:C:T
Gene:: LENG9 (Varview), LENG8 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.54461324C>G, NC_000019.10:g.54461324C>T, NW_004166865.1:g.435691C>G, NW_004166865.1:g.435691C>T, NT_187693.1:g.443618C>G, NT_187693.1:g.443618C>T, NC_000019.9:g.54972504C>G, NC_000019.9:g.54972504C>T, NW_003571060.1:g.366012C>G, NW_003571060.1:g.366012C>T, NW_003571054.1:g.367838C>G, NW_003571054.1:g.367838C>T, XM_005278250.6:c.*2418C>G, XM_005278250.6:c.*2418C>T, XM_005278250.5:c.*2418C>G, XM_005278250.5:c.*2418C>T, XM_005278250.4:c.*2418C>G, XM_005278250.4:c.*2418C>T, XM_005278252.6:c.*2418C>G, XM_005278252.6:c.*2418C>T, XM_005278252.5:c.*2418C>G, XM_005278252.5:c.*2418C>T, XM_005278252.4:c.*2418C>G, XM_005278252.4:c.*2418C>T, XM_006722997.5:c.*2418C>G, XM_006722997.5:c.*2418C>T, XM_006722997.4:c.*2418C>G, XM_006722997.4:c.*2418C>T, XM_006722997.3:c.*2418C>G, XM_006722997.3:c.*2418C>T, XM_011526414.4:c.*2418C>G, XM_011526414.4:c.*2418C>T, XM_011526414.3:c.*2418C>G, XM_011526414.3:c.*2418C>T, XM_011526414.2:c.*2418C>G, XM_011526414.2:c.*2418C>T, NM_052925.4:c.*396C>G, NM_052925.4:c.*396C>T, NM_052925.3:c.*396C>G, NM_052925.3:c.*396C>T, NM_052925.2:c.*396C>G, NM_052925.2:c.*396C>T, XM_011526415.4:c.*396C>G, XM_011526415.4:c.*396C>T, XM_011526415.3:c.*396C>G, XM_011526415.3:c.*396C>T, XM_011526415.2:c.*396C>G, XM_011526415.2:c.*396C>T, XM_011526415.1:c.*396C>G, XM_011526415.1:c.*396C>T, NM_001375638.1:c.*2418C>G, NM_001375638.1:c.*2418C>T, NM_001375641.1:c.*2418C>G, NM_001375641.1:c.*2418C>T, NM_001375640.1:c.*2418C>G, NM_001375640.1:c.*2418C>T, NM_001375639.1:c.*2418C>G, NM_001375639.1:c.*2418C>T, XM_047438123.1:c.*2418C>G, XM_047438123.1:c.*2418C>T, NM_001411063.1:c.*2418C>G, NM_001411063.1:c.*2418C>T, XM_047438124.1:c.*396C>G, XM_047438124.1:c.*396C>T, XM_047438126.1:c.*396C>G, XM_047438126.1:c.*396C>T, XM_047438125.1:c.*396C>G, XM_047438125.1:c.*396C>T, XM_047438127.1:c.*396C>G, XM_047438127.1:c.*396C>T

Select item 149037666113.

rs1490376661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:54461139 (GRCh38)
19:54972319 (GRCh37)
Canonical SPDI:: NC_000019.10:54461138:G:A,NC_000019.10:54461138:G:C
Gene:: LENG8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.54461139G>A, NC_000019.10:g.54461139G>C, NW_004166865.1:g.435506G>A, NW_004166865.1:g.435506G>C, NT_187693.1:g.443433G>A, NT_187693.1:g.443433G>C, NC_000019.9:g.54972319G>A, NC_000019.9:g.54972319G>C, NW_003571060.1:g.365827G>A, NW_003571060.1:g.365827G>C, NW_003571054.1:g.367653G>A, NW_003571054.1:g.367653G>C, XM_005278250.6:c.*2233G>A, XM_005278250.6:c.*2233G>C, XM_005278250.5:c.*2233G>A, XM_005278250.5:c.*2233G>C, XM_005278250.4:c.*2233G>A, XM_005278250.4:c.*2233G>C, XM_005278252.6:c.*2233G>A, XM_005278252.6:c.*2233G>C, XM_005278252.5:c.*2233G>A, XM_005278252.5:c.*2233G>C, XM_005278252.4:c.*2233G>A, XM_005278252.4:c.*2233G>C, XM_006722997.5:c.*2233G>A, XM_006722997.5:c.*2233G>C, XM_006722997.4:c.*2233G>A, XM_006722997.4:c.*2233G>C, XM_006722997.3:c.*2233G>A, XM_006722997.3:c.*2233G>C, XM_011526414.4:c.*2233G>A, XM_011526414.4:c.*2233G>C, XM_011526414.3:c.*2233G>A, XM_011526414.3:c.*2233G>C, XM_011526414.2:c.*2233G>A, XM_011526414.2:c.*2233G>C, NM_052925.4:c.*211G>A, NM_052925.4:c.*211G>C, NM_052925.3:c.*211G>A, NM_052925.3:c.*211G>C, NM_052925.2:c.*211G>A, NM_052925.2:c.*211G>C, XM_011526415.4:c.*211G>A, XM_011526415.4:c.*211G>C, XM_011526415.3:c.*211G>A, XM_011526415.3:c.*211G>C, XM_011526415.2:c.*211G>A, XM_011526415.2:c.*211G>C, XM_011526415.1:c.*211G>A, XM_011526415.1:c.*211G>C, NM_001375638.1:c.*2233G>A, NM_001375638.1:c.*2233G>C, NM_001375641.1:c.*2233G>A, NM_001375641.1:c.*2233G>C, NM_001375640.1:c.*2233G>A, NM_001375640.1:c.*2233G>C, NM_001375639.1:c.*2233G>A, NM_001375639.1:c.*2233G>C, XM_047438123.1:c.*2233G>A, XM_047438123.1:c.*2233G>C, NM_001411063.1:c.*2233G>A, NM_001411063.1:c.*2233G>C, XM_047438124.1:c.*211G>A, XM_047438124.1:c.*211G>C, XM_047438126.1:c.*211G>A, XM_047438126.1:c.*211G>C, XM_047438125.1:c.*211G>A, XM_047438125.1:c.*211G>C, XM_047438127.1:c.*211G>A, XM_047438127.1:c.*211G>C

Select item 149037465214.

rs1490374652 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:54452275 (GRCh38)
19:54963452 (GRCh37)
Canonical SPDI:: NC_000019.10:54452274:GG:G
Gene:: LENG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.54452276del, NW_004166865.1:g.426643del, NT_187693.1:g.434567del, NC_000019.9:g.54963453del, NW_003571060.1:g.356961del, NW_003571054.1:g.358788del

Select item 149021260115.

rs1490212601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54460785 (GRCh38)
19:54971965 (GRCh37)
Canonical SPDI:: NC_000019.10:54460784:G:A
Gene:: LENG8 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.54460785G>A, NW_004166865.1:g.435152G>A, NT_187693.1:g.443079G>A, NC_000019.9:g.54971965G>A, NW_003571060.1:g.365473G>A, NW_003571054.1:g.367299G>A, XM_005278250.6:c.*1879G>A, XM_005278250.5:c.*1879G>A, XM_005278250.4:c.*1879G>A, XM_005278250.1:c.*1879G>A, XM_005278252.6:c.*1879G>A, XM_005278252.5:c.*1879G>A, XM_005278252.4:c.*1879G>A, XM_005278252.1:c.*1879G>A, XM_006722997.5:c.*1879G>A, XM_006722997.4:c.*1879G>A, XM_006722997.3:c.*1879G>A, XM_011526414.4:c.*1879G>A, XM_011526414.3:c.*1879G>A, XM_011526414.2:c.*1879G>A, NM_052925.4:c.2260G>A, NM_052925.3:c.2260G>A, NM_052925.2:c.2260G>A, XM_011526415.4:c.2260G>A, XM_011526415.3:c.2260G>A, XM_011526415.2:c.2260G>A, XM_011526415.1:c.2260G>A, NM_001375638.1:c.*1879G>A, NM_001375641.1:c.*1879G>A, NM_001375640.1:c.*1879G>A, NM_001375639.1:c.*1879G>A, XM_047438123.1:c.*1879G>A, NM_001411063.1:c.*1879G>A, XM_047438124.1:c.2260G>A, XM_047438126.1:c.2149G>A, XM_047438125.1:c.2149G>A, XM_047438127.1:c.2149G>A, NP_443157.1:p.Val754Ile, XP_011524717.1:p.Val754Ile, XP_047294080.1:p.Val754Ile, XP_047294082.1:p.Val717Ile, XP_047294081.1:p.Val717Ile, XP_047294083.1:p.Val717Ile

Select item 148993396316.

rs1489933963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:54453351 (GRCh38)
19:54964530 (GRCh37)
Canonical SPDI:: NC_000019.10:54453350:C:G
Gene:: LENG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.54453351C>G, NW_004166865.1:g.427718C>G, NT_187693.1:g.435644C>G, NC_000019.9:g.54964530C>G, NW_003571060.1:g.358038C>G, NW_003571054.1:g.359865C>G

Select item 148981208217.

rs1489812082 has merged into rs1408863011 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 19:54448004 (GRCh38)
19:54959182 (GRCh37)
Canonical SPDI:: NC_000019.10:54448002:AAA:A,NC_000019.10:54448002:AAA:AA,NC_000019.10:54448002:AAA:AAAA
Gene:: LENG8 (Varview), LENG8-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
-=0.000748/12 (TOMMO)
HGVS:: NC_000019.10:g.54448004_54448005del, NC_000019.10:g.54448005del, NC_000019.10:g.54448005dup, NW_004166865.1:g.422371_422372del, NW_004166865.1:g.422372del, NW_004166865.1:g.422372dup, NT_187693.1:g.430296_430297del, NT_187693.1:g.430297del, NT_187693.1:g.430297dup, NC_000019.9:g.54959182_54959183del, NC_000019.9:g.54959183del, NC_000019.9:g.54959183dup, NW_003571060.1:g.352691_352692del, NW_003571060.1:g.352692del, NW_003571060.1:g.352692dup, NW_003571054.1:g.354515_354516del, NW_003571054.1:g.354516del, NW_003571054.1:g.354516dup

Select item 148932449018.

rs1489324490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:54454481 (GRCh38)
19:54965660 (GRCh37)
Canonical SPDI:: NC_000019.10:54454480:C:A
Gene:: LENG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54454481C>A, NW_004166865.1:g.428848C>A, NT_187693.1:g.436774C>A, NC_000019.9:g.54965660C>A, NW_003571060.1:g.359168C>A, NW_003571054.1:g.360995C>A, XM_005278250.6:c.424C>A, XM_005278250.5:c.424C>A, XM_005278250.4:c.424C>A, XM_005278250.3:c.424C>A, XM_005278250.2:c.424C>A, XM_005278250.1:c.424C>A, XM_005278252.6:c.367C>A, XM_005278252.5:c.367C>A, XM_005278252.4:c.367C>A, XM_005278252.3:c.367C>A, XM_005278252.2:c.367C>A, XM_005278252.1:c.367C>A, XM_006722997.5:c.313C>A, XM_006722997.4:c.313C>A, XM_006722997.3:c.313C>A, XM_006722997.2:c.313C>A, XM_006722997.1:c.313C>A, XM_011526414.4:c.367C>A, XM_011526414.3:c.367C>A, XM_011526414.2:c.367C>A, XM_011526414.1:c.367C>A, NM_052925.4:c.478C>A, NM_052925.3:c.478C>A, NM_052925.2:c.478C>A, XM_011526415.4:c.478C>A, XM_011526415.3:c.478C>A, XM_011526415.2:c.478C>A, XM_011526415.1:c.478C>A, NM_001375638.1:c.478C>A, NM_001375641.1:c.478C>A, NM_001375640.1:c.478C>A, NM_001375639.1:c.424C>A, XM_047438123.1:c.367C>A, NM_001411063.1:c.367C>A, XM_047438124.1:c.478C>A, XM_047438126.1:c.367C>A, XM_047438125.1:c.367C>A, XM_047438127.1:c.367C>A, XP_005278307.1:p.Gln142Lys, XP_005278309.1:p.Gln123Lys, XP_006723060.1:p.Gln105Lys, XP_011524716.1:p.Gln123Lys, NP_443157.1:p.Gln160Lys, XP_011524717.1:p.Gln160Lys, NP_001362567.1:p.Gln160Lys, NP_001362570.1:p.Gln160Lys, NP_001362569.1:p.Gln160Lys, NP_001362568.1:p.Gln142Lys, XP_047294079.1:p.Gln123Lys, XP_047294080.1:p.Gln160Lys, XP_047294082.1:p.Gln123Lys, XP_047294081.1:p.Gln123Lys, XP_047294083.1:p.Gln123Lys

Select item 148927212619.

rs1489272126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:54455356 (GRCh38)
19:54966535 (GRCh37)
Canonical SPDI:: NC_000019.10:54455355:T:G
Gene:: LENG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54455356T>G, NW_004166865.1:g.429723T>G, NT_187693.1:g.437649T>G, NC_000019.9:g.54966535T>G, NW_003571060.1:g.360043T>G, NW_003571054.1:g.361870T>G

Select item 148878694220.

rs1488786942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54449034 (GRCh38)
19:54960212 (GRCh37)
Canonical SPDI:: NC_000019.10:54449033:G:A
Gene:: LENG8 (Varview), LENG8-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.54449034G>A, NW_004166865.1:g.423401G>A, NT_187693.1:g.431326G>A, NC_000019.9:g.54960212G>A, NW_003571060.1:g.353720G>A, NW_003571054.1:g.355546G>A, NM_052925.2:c.-332G>A, NR_126418.1:n.5C>T

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