SNP Links for Gene (Select 5289) - SNP

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Select item 14915798061.

rs1491579806 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 18:42049974 (GRCh38)
18:39629939 (GRCh37)
Canonical SPDI:: NC_000018.10:42049974:G:GG
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000018.10:g.42049975dup, NC_000018.9:g.39629939dup

Select item 14915787162.

rs1491578716 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 18:42076124 (GRCh38)
18:39656088 (GRCh37)
Canonical SPDI:: NC_000018.10:42076121:GCGC:GC
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGC=0./0 (ALFA)
-=0.0005/7 (TOMMO)
-=0.08378/4219 (GnomAD)
HGVS:: NC_000018.10:g.42076122GC[1], NC_000018.9:g.39656086GC[1]

Select item 14915710883.

rs1491571088 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATATATATA [Show Flanks]
Chromosome:: 18:42076122 (GRCh38)
18:39656087 (GRCh37)
Canonical SPDI:: NC_000018.10:42076122::TATATATATA
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: TATATATATA=0.01342/315 (GnomAD)
HGVS:: NC_000018.10:g.42076122_42076123insTATATATATA, NC_000018.9:g.39656086_39656087insTATATATATA

Select item 14915641434.

rs1491564143 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:42084585 (GRCh38)
18:39664549 (GRCh37)
Canonical SPDI:: NC_000018.10:42084584:CA:
Gene:: PIK3C3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00118/14 (ALFA)
-=0.00025/7 (TOMMO)
HGVS:: NC_000018.10:g.42084585_42084586del, NC_000018.9:g.39664549_39664550del, NM_002647.4:c.*3448_*3449del, NM_001308020.2:c.*3448_*3449del, XM_047437550.1:c.*3448_*3449del

Select item 14915437575.

rs1491543757 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 18:42029534 (GRCh38)
18:39609498 (GRCh37)
Canonical SPDI:: NC_000018.10:42029533:AT:
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000018.10:g.42029534_42029535del, NC_000018.9:g.39609498_39609499del

Select item 14915418876.

rs1491541887 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 18:42076161 (GRCh38)
18:39656126 (GRCh37)
Canonical SPDI:: NC_000018.10:42076161:GC:GCGC
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGC=0./0 (ALFA)
GC=0.00338/301 (GnomAD)
HGVS:: NC_000018.10:g.42076162_42076163dup, NC_000018.9:g.39656126_39656127dup

Select item 14914637987.

rs1491463798 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATG [Show Flanks]
Chromosome:: 18:42076118 (GRCh38)
18:39656083 (GRCh37)
Canonical SPDI:: NC_000018.10:42076118:TATG:TATGTATG
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATGTATG=0.00017/2 (ALFA)
TATG=0.00025/15 (GnomAD)
HGVS:: NC_000018.10:g.42076119_42076122dup, NC_000018.9:g.39656083_39656086dup

Select item 14914502138.

rs1491450213 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 18:42076161 (GRCh38)
18:39656125 (GRCh37)
Canonical SPDI:: NC_000018.10:42076160:TG:
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/3 (GnomAD)
-=0.00149/25 (TOMMO)
HGVS:: NC_000018.10:g.42076161_42076162del, NC_000018.9:g.39656125_39656126del

Select item 14914372149.

rs1491437214 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 18:42079989 (GRCh38)
18:39659953 (GRCh37)
Canonical SPDI:: NC_000018.10:42079988:AA:
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00675/26 (ALSPAC)
-=0.0116/43 (TWINSUK)
HGVS:: NC_000018.10:g.42079989_42079990del, NC_000018.9:g.39659953_39659954del

Select item 149138146310.

rs1491381463 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 18:42079988 (GRCh38)
18:39659953 (GRCh37)
Canonical SPDI:: NC_000018.10:42079988:AA:AAAA
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
AA=0.00002/2 (GnomAD)
AA=0.19256/714 (TWINSUK)
AA=0.19408/748 (ALSPAC)
HGVS:: NC_000018.10:g.42079989_42079990dup, NC_000018.9:g.39659953_39659954dup

Select item 149134871011.

rs1491348710 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 18:42062257 (GRCh38)
18:39642221 (GRCh37)
Canonical SPDI:: NC_000018.10:42062256:AA:
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.013/58 (ALFA)
HGVS:: NC_000018.10:g.42062257_42062258del, NC_000018.9:g.39642221_39642222del

Select item 149132258412.

rs1491322584 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAAAAAAA [Show Flanks]
Chromosome:: 18:42084586 (GRCh38)
18:39664551 (GRCh37)
Canonical SPDI:: NC_000018.10:42084586:AAAAAAAAAA:AAAAAAAAAACAAAAAAAAAA
Gene:: PIK3C3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
HGVS:: NC_000018.10:g.42084587_42084596A[10]CAAAAAAAAAA[1], NC_000018.9:g.39664551_39664560A[10]CAAAAAAAAAA[1], NM_002647.4:c.*3450_*3459A[10]CAAAAAAAAAA[1], NM_001308020.2:c.*3450_*3459A[10]CAAAAAAAAAA[1], XM_047437550.1:c.*3450_*3459A[10]CAAAAAAAAAA[1]

Select item 149129153413.

rs1491291534 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 18:42062257 (GRCh38)
18:39642222 (GRCh37)
Canonical SPDI:: NC_000018.10:42062257::T
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000018.10:g.42062257_42062258insT, NC_000018.9:g.39642221_39642222insT

Select item 149128150614.

rs1491281506 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 18:42078409 (GRCh38)
18:39658374 (GRCh37)
Canonical SPDI:: NC_000018.10:42078409:TTTT:TTTTT
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0.000084/1 (ALFA)
T=0.000023/3 (GnomAD)
HGVS:: NC_000018.10:g.42078413dup, NC_000018.9:g.39658377dup

Select item 149127648915.

rs1491276489 has merged into rs71174081 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 18:42080011 (GRCh38)
18:39659975 (GRCh37)
Canonical SPDI:: NC_000018.10:42079998:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000018.10:42079998:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000018.10:42079998:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000018.10:42079998:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000018.10:42079998:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000018.10:42079998:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:42079998:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:42079998:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:42079998:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:42079998:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:42079998:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:42079998:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:42079998:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:42079998:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
-=0.08095/312 (ALSPAC)
-=0.09817/364 (TWINSUK)
HGVS:: NC_000018.10:g.42079999GT[6], NC_000018.10:g.42079999GT[7], NC_000018.10:g.42079999GT[8], NC_000018.10:g.42079999GT[9], NC_000018.10:g.42079999GT[10], NC_000018.10:g.42079999GT[11], NC_000018.10:g.42079999GT[12], NC_000018.10:g.42079999GT[13], NC_000018.10:g.42079999GT[14], NC_000018.10:g.42079999GT[16], NC_000018.10:g.42079999GT[17], NC_000018.10:g.42079999GT[18], NC_000018.10:g.42079999GT[19], NC_000018.10:g.42079999GT[23], NC_000018.9:g.39659963GT[6], NC_000018.9:g.39659963GT[7], NC_000018.9:g.39659963GT[8], NC_000018.9:g.39659963GT[9], NC_000018.9:g.39659963GT[10], NC_000018.9:g.39659963GT[11], NC_000018.9:g.39659963GT[12], NC_000018.9:g.39659963GT[13], NC_000018.9:g.39659963GT[14], NC_000018.9:g.39659963GT[16], NC_000018.9:g.39659963GT[17], NC_000018.9:g.39659963GT[18], NC_000018.9:g.39659963GT[19], NC_000018.9:g.39659963GT[23]

Select item 149127179916.

rs1491271799 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:42078383 (GRCh38)
18:39658347 (GRCh37)
Canonical SPDI:: NC_000018.10:42078382:CA:
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00523/62 (ALFA)
-=0.00376/62 (TOMMO)
HGVS:: NC_000018.10:g.42078383_42078384del, NC_000018.9:g.39658347_39658348del

Select item 149121563917.

rs1491215639 has merged into rs57593886 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:42029547 (GRCh38)
18:39609511 (GRCh37)
Canonical SPDI:: NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:42029534:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.0435/26 (NorthernSweden)
HGVS:: NC_000018.10:g.42029547_42029562del, NC_000018.10:g.42029548_42029562del, NC_000018.10:g.42029549_42029562del, NC_000018.10:g.42029551_42029562del, NC_000018.10:g.42029552_42029562del, NC_000018.10:g.42029553_42029562del, NC_000018.10:g.42029554_42029562del, NC_000018.10:g.42029555_42029562del, NC_000018.10:g.42029556_42029562del, NC_000018.10:g.42029557_42029562del, NC_000018.10:g.42029558_42029562del, NC_000018.10:g.42029559_42029562del, NC_000018.10:g.42029560_42029562del, NC_000018.10:g.42029561_42029562del, NC_000018.10:g.42029562del, NC_000018.10:g.42029562dup, NC_000018.10:g.42029561_42029562dup, NC_000018.10:g.42029560_42029562dup, NC_000018.10:g.42029559_42029562dup, NC_000018.10:g.42029558_42029562dup, NC_000018.10:g.42029557_42029562dup, NC_000018.10:g.42029556_42029562dup, NC_000018.10:g.42029546_42029562dup, NC_000018.9:g.39609511_39609526del, NC_000018.9:g.39609512_39609526del, NC_000018.9:g.39609513_39609526del, NC_000018.9:g.39609515_39609526del, NC_000018.9:g.39609516_39609526del, NC_000018.9:g.39609517_39609526del, NC_000018.9:g.39609518_39609526del, NC_000018.9:g.39609519_39609526del, NC_000018.9:g.39609520_39609526del, NC_000018.9:g.39609521_39609526del, NC_000018.9:g.39609522_39609526del, NC_000018.9:g.39609523_39609526del, NC_000018.9:g.39609524_39609526del, NC_000018.9:g.39609525_39609526del, NC_000018.9:g.39609526del, NC_000018.9:g.39609526dup, NC_000018.9:g.39609525_39609526dup, NC_000018.9:g.39609524_39609526dup, NC_000018.9:g.39609523_39609526dup, NC_000018.9:g.39609522_39609526dup, NC_000018.9:g.39609521_39609526dup, NC_000018.9:g.39609520_39609526dup, NC_000018.9:g.39609510_39609526dup

Select item 149121358618.

rs1491213586 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 18:42078409 (GRCh38)
18:39658373 (GRCh37)
Canonical SPDI:: NC_000018.10:42078408:AT:
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00071/12 (TOMMO)
HGVS:: NC_000018.10:g.42078409_42078410del, NC_000018.9:g.39658373_39658374del

Select item 149121206519.

rs1491212065 has merged into rs60269462 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:42078397 (GRCh38)
18:39658361 (GRCh37)
Canonical SPDI:: NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42078383:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PIK3C3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.42078397_42078409del, NC_000018.10:g.42078398_42078409del, NC_000018.10:g.42078399_42078409del, NC_000018.10:g.42078400_42078409del, NC_000018.10:g.42078401_42078409del, NC_000018.10:g.42078402_42078409del, NC_000018.10:g.42078403_42078409del, NC_000018.10:g.42078404_42078409del, NC_000018.10:g.42078405_42078409del, NC_000018.10:g.42078406_42078409del, NC_000018.10:g.42078407_42078409del, NC_000018.10:g.42078408_42078409del, NC_000018.10:g.42078409del, NC_000018.10:g.42078409dup, NC_000018.10:g.42078408_42078409dup, NC_000018.10:g.42078407_42078409dup, NC_000018.10:g.42078406_42078409dup, NC_000018.10:g.42078404_42078409dup, NC_000018.9:g.39658361_39658373del, NC_000018.9:g.39658362_39658373del, NC_000018.9:g.39658363_39658373del, NC_000018.9:g.39658364_39658373del, NC_000018.9:g.39658365_39658373del, NC_000018.9:g.39658366_39658373del, NC_000018.9:g.39658367_39658373del, NC_000018.9:g.39658368_39658373del, NC_000018.9:g.39658369_39658373del, NC_000018.9:g.39658370_39658373del, NC_000018.9:g.39658371_39658373del, NC_000018.9:g.39658372_39658373del, NC_000018.9:g.39658373del, NC_000018.9:g.39658373dup, NC_000018.9:g.39658372_39658373dup, NC_000018.9:g.39658371_39658373dup, NC_000018.9:g.39658370_39658373dup, NC_000018.9:g.39658368_39658373dup

Select item 149115583220.

rs1491155832 has merged into rs58697677 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAGAAACAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAATCTAAAAAAAGAAAAGATAAGAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAATCTAAAAATAGAAAAGAGTAGAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAGAACCAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAATCTAAAAATAGAAAAAAGAAGAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAGAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAACAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:42084593 (GRCh38)
18:39664557 (GRCh37)
Canonical SPDI:: NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAGAAACAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAATCTAAAAAAAGAAAAGATAAGAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAATCTAAAAATAGAAAAGAGTAGAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAGAACCAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAATCTAAAAATAGAAAAAAGAAGAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAACAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:42084585:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA
Gene:: PIK3C3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.42084593_42084606del, NC_000018.10:g.42084595_42084606del, NC_000018.10:g.42084596_42084606del, NC_000018.10:g.42084597_42084606del, NC_000018.10:g.42084598_42084606del, NC_000018.10:g.42084599_42084606del, NC_000018.10:g.42084600_42084606del, NC_000018.10:g.42084601_42084606del, NC_000018.10:g.42084602_42084606del, NC_000018.10:g.42084603_42084606del, NC_000018.10:g.42084604_42084606del, NC_000018.10:g.42084605_42084606del, NC_000018.10:g.42084606del, NC_000018.10:g.42084606dup, NC_000018.10:g.42084605_42084606dup, NC_000018.10:g.42084604_42084606dup, NC_000018.10:g.42084603_42084606dup, NC_000018.10:g.42084601_42084606dup, NC_000018.10:g.42084600_42084606dup, NC_000018.10:g.42084599_42084606dup, NC_000018.10:g.42084598_42084606dup, NC_000018.10:g.42084597_42084606dup, NC_000018.10:g.42084596_42084606dup, NC_000018.10:g.42084595_42084606dup, NC_000018.10:g.42084594_42084606dup, NC_000018.10:g.42084593_42084606dup, NC_000018.10:g.42084588_42084606dup, NC_000018.10:g.42084606_42084607insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.42084586_42084606A[28]GAAAAAAAAAAAAAAAAAAAAGAAACAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAAAAAAAAAAAAATCTAAAAAAAGAAAAGATAAGAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAAAAAAAAAAAAATCTAAAAATAGAAAAGAGTAGAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAAAAAAAAAAAA[2]A[4]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAAAAAAAAAAGAACCAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAAAA[2]ATCTAAAAATAGAAAAAAGAAGAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAAAAGAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAACAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.42084586_42084606A[22]GAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664557_39664570del, NC_000018.9:g.39664559_39664570del, NC_000018.9:g.39664560_39664570del, NC_000018.9:g.39664561_39664570del, NC_000018.9:g.39664562_39664570del, NC_000018.9:g.39664563_39664570del, NC_000018.9:g.39664564_39664570del, NC_000018.9:g.39664565_39664570del, NC_000018.9:g.39664566_39664570del, NC_000018.9:g.39664567_39664570del, NC_000018.9:g.39664568_39664570del, NC_000018.9:g.39664569_39664570del, NC_000018.9:g.39664570del, NC_000018.9:g.39664570dup, NC_000018.9:g.39664569_39664570dup, NC_000018.9:g.39664568_39664570dup, NC_000018.9:g.39664567_39664570dup, NC_000018.9:g.39664565_39664570dup, NC_000018.9:g.39664564_39664570dup, NC_000018.9:g.39664563_39664570dup, NC_000018.9:g.39664562_39664570dup, NC_000018.9:g.39664561_39664570dup, NC_000018.9:g.39664560_39664570dup, NC_000018.9:g.39664559_39664570dup, NC_000018.9:g.39664558_39664570dup, NC_000018.9:g.39664557_39664570dup, NC_000018.9:g.39664552_39664570dup, NC_000018.9:g.39664570_39664571insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.39664550_39664570A[28]GAAAAAAAAAAAAAAAAAAAAGAAACAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAAAAAAAAAAAAATCTAAAAAAAGAAAAGATAAGAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAAAAAAAAAAAAATCTAAAAATAGAAAAGAGTAGAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAAAAAAAAAAAA[2]A[4]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAAAAAAAAAAGAACCAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAAAA[2]ATCTAAAAATAGAAAAAAGAAGAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAAAAGAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAACAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.39664550_39664570A[22]GAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3456_*3469del, NM_002647.4:c.*3458_*3469del, NM_002647.4:c.*3459_*3469del, NM_002647.4:c.*3460_*3469del, NM_002647.4:c.*3461_*3469del, NM_002647.4:c.*3462_*3469del, NM_002647.4:c.*3463_*3469del, NM_002647.4:c.*3464_*3469del, NM_002647.4:c.*3465_*3469del, NM_002647.4:c.*3466_*3469del, NM_002647.4:c.*3467_*3469del, NM_002647.4:c.*3468_*3469del, NM_002647.4:c.*3469del, NM_002647.4:c.*3469dup, NM_002647.4:c.*3468_*3469dup, NM_002647.4:c.*3467_*3469dup, NM_002647.4:c.*3466_*3469dup, NM_002647.4:c.*3464_*3469dup, NM_002647.4:c.*3463_*3469dup, NM_002647.4:c.*3462_*3469dup, NM_002647.4:c.*3461_*3469dup, NM_002647.4:c.*3460_*3469dup, NM_002647.4:c.*3459_*3469dup, NM_002647.4:c.*3458_*3469dup, NM_002647.4:c.*3457_*3469dup, NM_002647.4:c.*3456_*3469dup, NM_002647.4:c.*3451_*3469dup, NM_002647.4:c.*3469_*3470insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_002647.4:c.*3449_*3469A[28]GAAAAAAAAAAAAAAAAAAAAGAAACAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAATCTAAAAAAAGAAAAGATAAGAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAATCTAAAAATAGAAAAGAGTAGAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAAAAAAAAAAAA[2]A[4]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAAAAAAAAAAGAACCAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAAAA[2]ATCTAAAAATAGAAAAAAGAAGAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAAAAGAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAACAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_002647.4:c.*3449_*3469A[22]GAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3456_*3469del, NM_001308020.2:c.*3458_*3469del, NM_001308020.2:c.*3459_*3469del, NM_001308020.2:c.*3460_*3469del, NM_001308020.2:c.*3461_*3469del, NM_001308020.2:c.*3462_*3469del, NM_001308020.2:c.*3463_*3469del, NM_001308020.2:c.*3464_*3469del, NM_001308020.2:c.*3465_*3469del, NM_001308020.2:c.*3466_*3469del, NM_001308020.2:c.*3467_*3469del, NM_001308020.2:c.*3468_*3469del, NM_001308020.2:c.*3469del, NM_001308020.2:c.*3469dup, NM_001308020.2:c.*3468_*3469dup, NM_001308020.2:c.*3467_*3469dup, NM_001308020.2:c.*3466_*3469dup, NM_001308020.2:c.*3464_*3469dup, NM_001308020.2:c.*3463_*3469dup, NM_001308020.2:c.*3462_*3469dup, NM_001308020.2:c.*3461_*3469dup, NM_001308020.2:c.*3460_*3469dup, NM_001308020.2:c.*3459_*3469dup, NM_001308020.2:c.*3458_*3469dup, NM_001308020.2:c.*3457_*3469dup, NM_001308020.2:c.*3456_*3469dup, NM_001308020.2:c.*3451_*3469dup, NM_001308020.2:c.*3469_*3470insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001308020.2:c.*3449_*3469A[28]GAAAAAAAAAAAAAAAAAAAAGAAACAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAATCTAAAAAAAGAAAAGATAAGAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAATCTAAAAATAGAAAAGAGTAGAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAAAAAAAAAAAA[2]A[4]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAAAAAAAAAAGAACCAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAAAA[2]ATCTAAAAATAGAAAAAAGAAGAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAAAAGAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAACAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NM_001308020.2:c.*3449_*3469A[22]GAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3456_*3469del, XM_047437550.1:c.*3458_*3469del, XM_047437550.1:c.*3459_*3469del, XM_047437550.1:c.*3460_*3469del, XM_047437550.1:c.*3461_*3469del, XM_047437550.1:c.*3462_*3469del, XM_047437550.1:c.*3463_*3469del, XM_047437550.1:c.*3464_*3469del, XM_047437550.1:c.*3465_*3469del, XM_047437550.1:c.*3466_*3469del, XM_047437550.1:c.*3467_*3469del, XM_047437550.1:c.*3468_*3469del, XM_047437550.1:c.*3469del, XM_047437550.1:c.*3469dup, XM_047437550.1:c.*3468_*3469dup, XM_047437550.1:c.*3467_*3469dup, XM_047437550.1:c.*3466_*3469dup, XM_047437550.1:c.*3464_*3469dup, XM_047437550.1:c.*3463_*3469dup, XM_047437550.1:c.*3462_*3469dup, XM_047437550.1:c.*3461_*3469dup, XM_047437550.1:c.*3460_*3469dup, XM_047437550.1:c.*3459_*3469dup, XM_047437550.1:c.*3458_*3469dup, XM_047437550.1:c.*3457_*3469dup, XM_047437550.1:c.*3456_*3469dup, XM_047437550.1:c.*3451_*3469dup, XM_047437550.1:c.*3469_*3470insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_047437550.1:c.*3449_*3469A[28]GAAAAAAAAAAAAAAAAAAAAGAAACAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAATCTAAAAAAAGAAAAGATAAGAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAAAAAAAAAAAAATCTAAAAATAGAAAAGAGTAGAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAAAAAAAAAAAA[2]A[4]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAAAAAAAAAAGAACCAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAAAA[2]ATCTAAAAATAGAAAAAAGAAGAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAAAAGAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAACAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], XM_047437550.1:c.*3449_*3469A[22]GAAAAACAAACAAAAAAAAAAAAAAAAAAAAAA[1]

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dbSNP

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