SNP Links for Nucleotide (Select 172073156) - SNP

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Select item 14915779811.

rs1491577981 has merged into rs765641037 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:3002246 (GRCh38)
18:3002244 (GRCh37)
Canonical SPDI:: NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:3002236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LPIN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.3002246_3002258del, NC_000018.10:g.3002248_3002258del, NC_000018.10:g.3002250_3002258del, NC_000018.10:g.3002251_3002258del, NC_000018.10:g.3002252_3002258del, NC_000018.10:g.3002253_3002258del, NC_000018.10:g.3002254_3002258del, NC_000018.10:g.3002255_3002258del, NC_000018.10:g.3002256_3002258del, NC_000018.10:g.3002257_3002258del, NC_000018.10:g.3002258del, NC_000018.10:g.3002258dup, NC_000018.10:g.3002257_3002258dup, NC_000018.10:g.3002256_3002258dup, NC_000018.10:g.3002255_3002258dup, NC_000018.10:g.3002254_3002258dup, NC_000018.10:g.3002253_3002258dup, NC_000018.10:g.3002252_3002258dup, NC_000018.10:g.3002251_3002258dup, NC_000018.10:g.3002250_3002258dup, NC_000018.10:g.3002249_3002258dup, NC_000018.10:g.3002248_3002258dup, NC_000018.10:g.3002247_3002258dup, NC_000018.10:g.3002246_3002258dup, NC_000018.10:g.3002245_3002258dup, NC_000018.10:g.3002243_3002258dup, NC_000018.10:g.3002241_3002258dup, NC_000018.10:g.3002258_3002259insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.3002258_3002259insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.3002258_3002259insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.3002258_3002259insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.3002258_3002259insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.3002258_3002259insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.3002244_3002256del, NC_000018.9:g.3002246_3002256del, NC_000018.9:g.3002248_3002256del, NC_000018.9:g.3002249_3002256del, NC_000018.9:g.3002250_3002256del, NC_000018.9:g.3002251_3002256del, NC_000018.9:g.3002252_3002256del, NC_000018.9:g.3002253_3002256del, NC_000018.9:g.3002254_3002256del, NC_000018.9:g.3002255_3002256del, NC_000018.9:g.3002256del, NC_000018.9:g.3002256dup, NC_000018.9:g.3002255_3002256dup, NC_000018.9:g.3002254_3002256dup, NC_000018.9:g.3002253_3002256dup, NC_000018.9:g.3002252_3002256dup, NC_000018.9:g.3002251_3002256dup, NC_000018.9:g.3002250_3002256dup, NC_000018.9:g.3002249_3002256dup, NC_000018.9:g.3002248_3002256dup, NC_000018.9:g.3002247_3002256dup, NC_000018.9:g.3002246_3002256dup, NC_000018.9:g.3002245_3002256dup, NC_000018.9:g.3002244_3002256dup, NC_000018.9:g.3002243_3002256dup, NC_000018.9:g.3002241_3002256dup, NC_000018.9:g.3002239_3002256dup, NC_000018.9:g.3002256_3002257insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.3002256_3002257insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.3002256_3002257insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.3002256_3002257insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.3002256_3002257insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.3002256_3002257insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007507.1:g.14699_14711del, NG_007507.1:g.14701_14711del, NG_007507.1:g.14703_14711del, NG_007507.1:g.14704_14711del, NG_007507.1:g.14705_14711del, NG_007507.1:g.14706_14711del, NG_007507.1:g.14707_14711del, NG_007507.1:g.14708_14711del, NG_007507.1:g.14709_14711del, NG_007507.1:g.14710_14711del, NG_007507.1:g.14711del, NG_007507.1:g.14711dup, NG_007507.1:g.14710_14711dup, NG_007507.1:g.14709_14711dup, NG_007507.1:g.14708_14711dup, NG_007507.1:g.14707_14711dup, NG_007507.1:g.14706_14711dup, NG_007507.1:g.14705_14711dup, NG_007507.1:g.14704_14711dup, NG_007507.1:g.14703_14711dup, NG_007507.1:g.14702_14711dup, NG_007507.1:g.14701_14711dup, NG_007507.1:g.14700_14711dup, NG_007507.1:g.14699_14711dup, NG_007507.1:g.14698_14711dup, NG_007507.1:g.14696_14711dup, NG_007507.1:g.14694_14711dup, NG_007507.1:g.14711_14712insTTTTTTTTTTTTTTTTTTTTTTTT, NG_007507.1:g.14711_14712insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007507.1:g.14711_14712insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007507.1:g.14711_14712insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007507.1:g.14711_14712insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007507.1:g.14711_14712insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915609572.

rs1491560957 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 18:3000056 (GRCh38)
18:3000054 (GRCh37)
Canonical SPDI:: NC_000018.10:3000055:AA:
Gene:: LPIN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.3000056_3000057del, NC_000018.9:g.3000054_3000055del, NG_007507.1:g.16891_16892del

Select item 14915592183.

rs1491559218 has merged into rs1555609552 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:3007016 (GRCh38)
18:3007014 (GRCh37)
Canonical SPDI:: NC_000018.10:3007014:ACA:A
Gene:: LPIN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002276/27 (ALFA)
-=0.002186/14 (1000Genomes)
-=0.002242/310 (GnomAD)
HGVS:: NC_000018.10:g.3007016_3007017del, NC_000018.9:g.3007014_3007015del, NG_007507.1:g.9932_9933del

Select item 14915141174.

rs1491514117 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 18:2963898 (GRCh38)
18:2963897 (GRCh37)
Canonical SPDI:: NC_000018.10:2963898:TTTTTTT:TTTTTTTT
Gene:: LPIN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.2963905dup, NC_000018.9:g.2963903dup, NG_007507.1:g.53049dup

Select item 14915029715.

rs1491502971 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:3002236 (GRCh38)
18:3002234 (GRCh37)
Canonical SPDI:: NC_000018.10:3002235:CA:
Gene:: LPIN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00506/60 (ALFA)
-=0.00035/6 (TOMMO)
HGVS:: NC_000018.10:g.3002236_3002237del, NC_000018.9:g.3002234_3002235del, NG_007507.1:g.14711_14712del

Select item 14914642966.

rs1491464296 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAG [Show Flanks]
Chromosome:: 18:2917102 (GRCh38)
18:2917101 (GRCh37)
Canonical SPDI:: NC_000018.10:2917102:GAG:GAGGAG
Gene:: LPIN2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAG=0.000071/1 (ALFA)
GAG=0.000038/10 (TOPMED)
GAG=0.000043/6 (GnomAD)
GAG=0.000885/15 (TOMMO)
HGVS:: NC_000018.10:g.2917103_2917105dup, NC_000018.9:g.2917101_2917103dup, NG_007507.1:g.99843_99845dup, NM_014646.2:c.*3188_*3190dup, NM_001375808.2:c.*3188_*3190dup, NM_001375808.1:c.*3188_*3190dup, NM_001375809.1:c.*3188_*3190dup, XM_005258177.5:c.*3188_*3190dup, XM_005258177.4:c.*3188_*3190dup, XM_005258177.3:c.*3188_*3190dup, XM_005258177.2:c.*3188_*3190dup, XM_005258177.1:c.*3188_*3190dup, XM_017026099.2:c.*3188_*3190dup, XM_017026099.1:c.*3188_*3190dup, XM_047437959.1:c.*3188_*3190dup, XM_047437958.1:c.*3188_*3190dup

Select item 14914158897.

rs1491415889 has merged into rs71366618 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:2937554 (GRCh38)
18:2937552 (GRCh37)
Canonical SPDI:: NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2937544:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LPIN2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAA=0.0034/2 (NorthernSweden)
HGVS:: NC_000018.10:g.2937554_2937571del, NC_000018.10:g.2937556_2937571del, NC_000018.10:g.2937557_2937571del, NC_000018.10:g.2937558_2937571del, NC_000018.10:g.2937559_2937571del, NC_000018.10:g.2937560_2937571del, NC_000018.10:g.2937561_2937571del, NC_000018.10:g.2937562_2937571del, NC_000018.10:g.2937563_2937571del, NC_000018.10:g.2937564_2937571del, NC_000018.10:g.2937565_2937571del, NC_000018.10:g.2937566_2937571del, NC_000018.10:g.2937567_2937571del, NC_000018.10:g.2937568_2937571del, NC_000018.10:g.2937569_2937571del, NC_000018.10:g.2937570_2937571del, NC_000018.10:g.2937571del, NC_000018.10:g.2937571dup, NC_000018.10:g.2937570_2937571dup, NC_000018.10:g.2937569_2937571dup, NC_000018.10:g.2937568_2937571dup, NC_000018.10:g.2937567_2937571dup, NC_000018.10:g.2937566_2937571dup, NC_000018.10:g.2937551_2937571dup, NC_000018.9:g.2937552_2937569del, NC_000018.9:g.2937554_2937569del, NC_000018.9:g.2937555_2937569del, NC_000018.9:g.2937556_2937569del, NC_000018.9:g.2937557_2937569del, NC_000018.9:g.2937558_2937569del, NC_000018.9:g.2937559_2937569del, NC_000018.9:g.2937560_2937569del, NC_000018.9:g.2937561_2937569del, NC_000018.9:g.2937562_2937569del, NC_000018.9:g.2937563_2937569del, NC_000018.9:g.2937564_2937569del, NC_000018.9:g.2937565_2937569del, NC_000018.9:g.2937566_2937569del, NC_000018.9:g.2937567_2937569del, NC_000018.9:g.2937568_2937569del, NC_000018.9:g.2937569del, NC_000018.9:g.2937569dup, NC_000018.9:g.2937568_2937569dup, NC_000018.9:g.2937567_2937569dup, NC_000018.9:g.2937566_2937569dup, NC_000018.9:g.2937565_2937569dup, NC_000018.9:g.2937564_2937569dup, NC_000018.9:g.2937549_2937569dup, NG_007507.1:g.79386_79403del, NG_007507.1:g.79388_79403del, NG_007507.1:g.79389_79403del, NG_007507.1:g.79390_79403del, NG_007507.1:g.79391_79403del, NG_007507.1:g.79392_79403del, NG_007507.1:g.79393_79403del, NG_007507.1:g.79394_79403del, NG_007507.1:g.79395_79403del, NG_007507.1:g.79396_79403del, NG_007507.1:g.79397_79403del, NG_007507.1:g.79398_79403del, NG_007507.1:g.79399_79403del, NG_007507.1:g.79400_79403del, NG_007507.1:g.79401_79403del, NG_007507.1:g.79402_79403del, NG_007507.1:g.79403del, NG_007507.1:g.79403dup, NG_007507.1:g.79402_79403dup, NG_007507.1:g.79401_79403dup, NG_007507.1:g.79400_79403dup, NG_007507.1:g.79399_79403dup, NG_007507.1:g.79398_79403dup, NG_007507.1:g.79383_79403dup

Select item 14913543238.

rs1491354323 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 18:2917258 (GRCh38)
18:2917256 (GRCh37)
Canonical SPDI:: NC_000018.10:2917255:AAAA:AA
Gene:: LPIN2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.2917258_2917259del, NC_000018.9:g.2917256_2917257del, NG_007507.1:g.99691_99692del, NM_014646.2:c.*3036_*3037del, NM_001375808.2:c.*3036_*3037del, NM_001375808.1:c.*3036_*3037del, NM_001375809.1:c.*3036_*3037del, XM_005258177.5:c.*3036_*3037del, XM_005258177.4:c.*3036_*3037del, XM_005258177.3:c.*3036_*3037del, XM_005258177.2:c.*3036_*3037del, XM_005258177.1:c.*3036_*3037del, XM_017026099.2:c.*3036_*3037del, XM_017026099.1:c.*3036_*3037del, XM_047437959.1:c.*3036_*3037del, XM_047437958.1:c.*3036_*3037del

Select item 14913188949.

rs1491318894 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 18:2917104 (GRCh38)
18:2917102 (GRCh37)
Canonical SPDI:: NC_000018.10:2917101:AGAG:AG
Gene:: LPIN2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.2917102AG[1], NC_000018.9:g.2917100AG[1], NG_007507.1:g.99843CT[1], NM_014646.2:c.*3188CT[1], NM_001375808.2:c.*3188CT[1], NM_001375808.1:c.*3188CT[1], NM_001375809.1:c.*3188CT[1], XM_005258177.5:c.*3188CT[1], XM_005258177.4:c.*3188CT[1], XM_005258177.3:c.*3188CT[1], XM_005258177.2:c.*3188CT[1], XM_005258177.1:c.*3188CT[1], XM_017026099.2:c.*3188CT[1], XM_017026099.1:c.*3188CT[1], XM_047437959.1:c.*3188CT[1], XM_047437958.1:c.*3188CT[1]

Select item 149130341410.

rs1491303414 has merged into rs71159027 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:2977205 (GRCh38)
18:2977203 (GRCh37)
Canonical SPDI:: NC_000018.10:2977191:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:2977191:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:2977191:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:2977191:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:2977191:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:2977191:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:2977191:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LPIN2 (Varview), LOC124904236 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2917/168 (NorthernSweden)
HGVS:: NC_000018.10:g.2977205_2977207del, NC_000018.10:g.2977206_2977207del, NC_000018.10:g.2977207del, NC_000018.10:g.2977207dup, NC_000018.10:g.2977206_2977207dup, NC_000018.10:g.2977205_2977207dup, NC_000018.10:g.2977196_2977207dup, NC_000018.9:g.2977203_2977205del, NC_000018.9:g.2977204_2977205del, NC_000018.9:g.2977205del, NC_000018.9:g.2977205dup, NC_000018.9:g.2977204_2977205dup, NC_000018.9:g.2977203_2977205dup, NC_000018.9:g.2977194_2977205dup, NG_007507.1:g.39754_39756del, NG_007507.1:g.39755_39756del, NG_007507.1:g.39756del, NG_007507.1:g.39756dup, NG_007507.1:g.39755_39756dup, NG_007507.1:g.39754_39756dup, NG_007507.1:g.39745_39756dup

Select item 149127130211.

rs1491271302 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGA [Show Flanks]
Chromosome:: 18:2917256 (GRCh38)
18:2917255 (GRCh37)
Canonical SPDI:: NC_000018.10:2917256:AAAGA:AAAGAAAGA
Gene:: LPIN2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGAAAGA=0./0 (ALFA)
AAAG=0.000011/3 (TOPMED)
AAAG=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.2917258_2917261dup, NC_000018.9:g.2917256_2917259dup, NG_007507.1:g.99688_99691dup, NM_014646.2:c.*3033_*3036dup, NM_001375808.2:c.*3033_*3036dup, NM_001375808.1:c.*3033_*3036dup, NM_001375809.1:c.*3033_*3036dup, XM_005258177.5:c.*3033_*3036dup, XM_005258177.4:c.*3033_*3036dup, XM_005258177.3:c.*3033_*3036dup, XM_005258177.2:c.*3033_*3036dup, XM_005258177.1:c.*3033_*3036dup, XM_017026099.2:c.*3033_*3036dup, XM_017026099.1:c.*3033_*3036dup, XM_047437959.1:c.*3033_*3036dup, XM_047437958.1:c.*3033_*3036dup

Select item 149126583312.

rs1491265833 has merged into rs145740705 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 18:2943442 (GRCh38)
18:2943440 (GRCh37)
Canonical SPDI:: NC_000018.10:2943429:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000018.10:2943429:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000018.10:2943429:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000018.10:2943429:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000018.10:2943429:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000018.10:2943429:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:2943429:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:2943429:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:2943429:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:2943429:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:2943429:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:2943429:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:2943429:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:2943429:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: LPIN2 (Varview), CHORDC1P4 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
-=0.3337/1286 (ALSPAC)
HGVS:: NC_000018.10:g.2943430GT[6], NC_000018.10:g.2943430GT[7], NC_000018.10:g.2943430GT[8], NC_000018.10:g.2943430GT[9], NC_000018.10:g.2943430GT[10], NC_000018.10:g.2943430GT[11], NC_000018.10:g.2943430GT[12], NC_000018.10:g.2943430GT[13], NC_000018.10:g.2943430GT[14], NC_000018.10:g.2943430GT[16], NC_000018.10:g.2943430GT[17], NC_000018.10:g.2943430GT[18], NC_000018.10:g.2943430GT[19], NC_000018.10:g.2943430GT[20], NC_000018.9:g.2943428GT[6], NC_000018.9:g.2943428GT[7], NC_000018.9:g.2943428GT[8], NC_000018.9:g.2943428GT[9], NC_000018.9:g.2943428GT[10], NC_000018.9:g.2943428GT[11], NC_000018.9:g.2943428GT[12], NC_000018.9:g.2943428GT[13], NC_000018.9:g.2943428GT[14], NC_000018.9:g.2943428GT[16], NC_000018.9:g.2943428GT[17], NC_000018.9:g.2943428GT[18], NC_000018.9:g.2943428GT[19], NC_000018.9:g.2943428GT[20], NG_007507.1:g.73489AC[6], NG_007507.1:g.73489AC[7], NG_007507.1:g.73489AC[8], NG_007507.1:g.73489AC[9], NG_007507.1:g.73489AC[10], NG_007507.1:g.73489AC[11], NG_007507.1:g.73489AC[12], NG_007507.1:g.73489AC[13], NG_007507.1:g.73489AC[14], NG_007507.1:g.73489AC[16], NG_007507.1:g.73489AC[17], NG_007507.1:g.73489AC[18], NG_007507.1:g.73489AC[19], NG_007507.1:g.73489AC[20], NR_026659.1:n.3165AC[6], NR_026659.1:n.3165AC[7], NR_026659.1:n.3165AC[8], NR_026659.1:n.3165AC[9], NR_026659.1:n.3165AC[10], NR_026659.1:n.3165AC[11], NR_026659.1:n.3165AC[12], NR_026659.1:n.3165AC[13], NR_026659.1:n.3165AC[14], NR_026659.1:n.3165AC[16], NR_026659.1:n.3165AC[17], NR_026659.1:n.3165AC[18], NR_026659.1:n.3165AC[19], NR_026659.1:n.3165AC[20]

Select item 149119940913.

rs1491199409 [Homo sapiens]

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

Select item 149113285614.

rs1491132856 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 18:2937544 (GRCh38)
18:2937542 (GRCh37)
Canonical SPDI:: NC_000018.10:2937543:TA:
Gene:: LPIN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00405/48 (ALFA)
HGVS:: NC_000018.10:g.2937544_2937545del, NC_000018.9:g.2937542_2937543del, NG_007507.1:g.79403_79404del

Select item 149111860815.

rs1491118608 [Homo sapiens]

Variant type:: INS
Alleles:: ->GG [Show Flanks]
Chromosome:: 18:3000056 (GRCh38)
18:3000055 (GRCh37)
Canonical SPDI:: NC_000018.10:3000056::GG
Gene:: LPIN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: GG=0.000326/5 (TOMMO)
GG=0.000353/48 (GnomAD)
HGVS:: NC_000018.10:g.3000056_3000057insGG, NC_000018.9:g.3000054_3000055insGG, NG_007507.1:g.16891_16892insCC

Select item 149108590316.

rs1491085903 has merged into rs11337129 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 18:3013702 (GRCh38)
18:3013700 (GRCh37)
Canonical SPDI:: NC_000018.10:3013692:AAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:3013692:AAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:3013692:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:3013692:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:3013692:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: LPIN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.4637/2322 (1000Genomes)
HGVS:: NC_000018.10:g.3013702_3013704del, NC_000018.10:g.3013703_3013704del, NC_000018.10:g.3013704del, NC_000018.10:g.3013704dup, NC_000018.10:g.3013703_3013704dup, NC_000018.9:g.3013700_3013702del, NC_000018.9:g.3013701_3013702del, NC_000018.9:g.3013702del, NC_000018.9:g.3013702dup, NC_000018.9:g.3013701_3013702dup, NG_007507.1:g.3253_3255del, NG_007507.1:g.3254_3255del, NG_007507.1:g.3255del, NG_007507.1:g.3255dup, NG_007507.1:g.3254_3255dup

Select item 149108083517.

rs1491080835 has merged into rs56276815 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:2964293 (GRCh38)
18:2964291 (GRCh37)
Canonical SPDI:: NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2964282:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LPIN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0./0 (GENOME_DK)
HGVS:: NC_000018.10:g.2964293_2964305del, NC_000018.10:g.2964294_2964305del, NC_000018.10:g.2964295_2964305del, NC_000018.10:g.2964296_2964305del, NC_000018.10:g.2964297_2964305del, NC_000018.10:g.2964298_2964305del, NC_000018.10:g.2964299_2964305del, NC_000018.10:g.2964300_2964305del, NC_000018.10:g.2964301_2964305del, NC_000018.10:g.2964302_2964305del, NC_000018.10:g.2964303_2964305del, NC_000018.10:g.2964304_2964305del, NC_000018.10:g.2964305del, NC_000018.10:g.2964305dup, NC_000018.10:g.2964304_2964305dup, NC_000018.10:g.2964303_2964305dup, NC_000018.10:g.2964302_2964305dup, NC_000018.10:g.2964301_2964305dup, NC_000018.10:g.2964300_2964305dup, NC_000018.10:g.2964299_2964305dup, NC_000018.10:g.2964298_2964305dup, NC_000018.10:g.2964297_2964305dup, NC_000018.10:g.2964295_2964305dup, NC_000018.10:g.2964292_2964305dup, NC_000018.10:g.2964287_2964305dup, NC_000018.9:g.2964291_2964303del, NC_000018.9:g.2964292_2964303del, NC_000018.9:g.2964293_2964303del, NC_000018.9:g.2964294_2964303del, NC_000018.9:g.2964295_2964303del, NC_000018.9:g.2964296_2964303del, NC_000018.9:g.2964297_2964303del, NC_000018.9:g.2964298_2964303del, NC_000018.9:g.2964299_2964303del, NC_000018.9:g.2964300_2964303del, NC_000018.9:g.2964301_2964303del, NC_000018.9:g.2964302_2964303del, NC_000018.9:g.2964303del, NC_000018.9:g.2964303dup, NC_000018.9:g.2964302_2964303dup, NC_000018.9:g.2964301_2964303dup, NC_000018.9:g.2964300_2964303dup, NC_000018.9:g.2964299_2964303dup, NC_000018.9:g.2964298_2964303dup, NC_000018.9:g.2964297_2964303dup, NC_000018.9:g.2964296_2964303dup, NC_000018.9:g.2964295_2964303dup, NC_000018.9:g.2964293_2964303dup, NC_000018.9:g.2964290_2964303dup, NC_000018.9:g.2964285_2964303dup, NG_007507.1:g.52653_52665del, NG_007507.1:g.52654_52665del, NG_007507.1:g.52655_52665del, NG_007507.1:g.52656_52665del, NG_007507.1:g.52657_52665del, NG_007507.1:g.52658_52665del, NG_007507.1:g.52659_52665del, NG_007507.1:g.52660_52665del, NG_007507.1:g.52661_52665del, NG_007507.1:g.52662_52665del, NG_007507.1:g.52663_52665del, NG_007507.1:g.52664_52665del, NG_007507.1:g.52665del, NG_007507.1:g.52665dup, NG_007507.1:g.52664_52665dup, NG_007507.1:g.52663_52665dup, NG_007507.1:g.52662_52665dup, NG_007507.1:g.52661_52665dup, NG_007507.1:g.52660_52665dup, NG_007507.1:g.52659_52665dup, NG_007507.1:g.52658_52665dup, NG_007507.1:g.52657_52665dup, NG_007507.1:g.52655_52665dup, NG_007507.1:g.52652_52665dup, NG_007507.1:g.52647_52665dup

Select item 149103727318.

rs1491037273 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 18:3005707 (GRCh38)
18:3005705 (GRCh37)
Canonical SPDI:: NC_000018.10:3005706:AG:
Gene:: LPIN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000337/4 (ALFA)
-=0.000543/71 (GnomAD)
HGVS:: NC_000018.10:g.3005707_3005708del, NC_000018.9:g.3005705_3005706del, NG_007507.1:g.11240_11241del

Select item 149101267719.

rs1491012677 has merged into rs1555606339 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:2986559 (GRCh38)
18:2986557 (GRCh37)
Canonical SPDI:: NC_000018.10:2986547:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:2986547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:2986547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:2986547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:2986547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:2986547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:2986547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:2986547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:2986547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2986547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2986547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:2986547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LPIN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.2986559_2986563del, NC_000018.10:g.2986561_2986563del, NC_000018.10:g.2986562_2986563del, NC_000018.10:g.2986563del, NC_000018.10:g.2986563dup, NC_000018.10:g.2986562_2986563dup, NC_000018.10:g.2986561_2986563dup, NC_000018.10:g.2986560_2986563dup, NC_000018.10:g.2986559_2986563dup, NC_000018.10:g.2986558_2986563dup, NC_000018.10:g.2986557_2986563dup, NC_000018.10:g.2986556_2986563dup, NC_000018.9:g.2986557_2986561del, NC_000018.9:g.2986559_2986561del, NC_000018.9:g.2986560_2986561del, NC_000018.9:g.2986561del, NC_000018.9:g.2986561dup, NC_000018.9:g.2986560_2986561dup, NC_000018.9:g.2986559_2986561dup, NC_000018.9:g.2986558_2986561dup, NC_000018.9:g.2986557_2986561dup, NC_000018.9:g.2986556_2986561dup, NC_000018.9:g.2986555_2986561dup, NC_000018.9:g.2986554_2986561dup, NG_007507.1:g.30396_30400del, NG_007507.1:g.30398_30400del, NG_007507.1:g.30399_30400del, NG_007507.1:g.30400del, NG_007507.1:g.30400dup, NG_007507.1:g.30399_30400dup, NG_007507.1:g.30398_30400dup, NG_007507.1:g.30397_30400dup, NG_007507.1:g.30396_30400dup, NG_007507.1:g.30395_30400dup, NG_007507.1:g.30394_30400dup, NG_007507.1:g.30393_30400dup

Select item 149099359920.

rs1490993599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:2989498 (GRCh38)
18:2989496 (GRCh37)
Canonical SPDI:: NC_000018.10:2989497:G:T
Gene:: LPIN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.2989498G>T, NC_000018.9:g.2989496G>T, NG_007507.1:g.27450C>A

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