SNP Links for Gene (Select 89795) - SNP

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Select item 14915872631.

rs1491587263 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:78059961 (GRCh38)
12:78453741 (GRCh37)
Canonical SPDI:: NC_000012.12:78059960:AT:
Gene:: NAV3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000146/17 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000012.12:g.78059961_78059962del, NC_000012.11:g.78453741_78453742del

Select item 14915829432.

rs1491582943 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATATATAT,TATATATATATAT,TATATATATATATAT,TATATATATATATATATATATATT,TATATATATG [Show Flanks]
Chromosome:: 12:77691355 (GRCh38)
12:78085136 (GRCh37)
Canonical SPDI:: NC_000012.12:77691355::TATATATAT,NC_000012.12:77691355::TATATATATATAT,NC_000012.12:77691355::TATATATATATATAT,NC_000012.12:77691355::TATATATATATATATATATATATT,NC_000012.12:77691355::TATATATATG
Gene:: NAV3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000012.12:g.77691355_77691356insTATATATAT, NC_000012.12:g.77691355_77691356insTATATATATATAT, NC_000012.12:g.77691355_77691356insTATATATATATATAT, NC_000012.12:g.77691355_77691356insTATATATATATATATATATATATT, NC_000012.12:g.77691355_77691356insTATATATATG, NC_000012.11:g.78085135_78085136insTATATATAT, NC_000012.11:g.78085135_78085136insTATATATATATAT, NC_000012.11:g.78085135_78085136insTATATATATATATAT, NC_000012.11:g.78085135_78085136insTATATATATATATATATATATATT, NC_000012.11:g.78085135_78085136insTATATATATG

Select item 14915721953.

rs1491572195 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACAA [Show Flanks]
Chromosome:: 12:77989465 (GRCh38)
12:78383246 (GRCh37)
Canonical SPDI:: NC_000012.12:77989465:CAA:CAAACAA
Gene:: NAV3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CAAACAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.77989468_77989469insACAA, NC_000012.11:g.78383248_78383249insACAA

Select item 14915648734.

rs1491564873 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AG [Show Flanks]
Chromosome:: 12:77946121 (GRCh38)
12:78339902 (GRCh37)
Canonical SPDI:: NC_000012.12:77946121::A,NC_000012.12:77946121::AG
Gene:: NAV3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
HGVS:: NC_000012.12:g.77946121_77946122insA, NC_000012.12:g.77946121_77946122insAG, NC_000012.11:g.78339901_78339902insA, NC_000012.11:g.78339901_78339902insAG

Select item 14915595755.

rs1491559575 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 12:77925539 (GRCh38)
12:78319319 (GRCh37)
Canonical SPDI:: NC_000012.12:77925537:GCG:G
Gene:: NAV3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.00021/3 (GnomAD)
-=0.00035/4 (TOMMO)
HGVS:: NC_000012.12:g.77925539_77925540del, NC_000012.11:g.78319319_78319320del

Select item 14915552146.

rs1491555214 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 12:77859757 (GRCh38)
12:78253538 (GRCh37)
Canonical SPDI:: NC_000012.12:77859757::A,NC_000012.12:77859757::AA,NC_000012.12:77859757::AAA,NC_000012.12:77859757::AAAA,NC_000012.12:77859757::AAAAA,NC_000012.12:77859757::AAAAAA
Gene:: NAV3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AAA=0.00081/1 (Korea1K)
HGVS:: NC_000012.12:g.77859757_77859758insA, NC_000012.12:g.77859757_77859758insAA, NC_000012.12:g.77859757_77859758insAAA, NC_000012.12:g.77859757_77859758insAAAA, NC_000012.12:g.77859757_77859758insAAAAA, NC_000012.12:g.77859757_77859758insAAAAAA, NC_000012.11:g.78253537_78253538insA, NC_000012.11:g.78253537_78253538insAA, NC_000012.11:g.78253537_78253538insAAA, NC_000012.11:g.78253537_78253538insAAAA, NC_000012.11:g.78253537_78253538insAAAAA, NC_000012.11:g.78253537_78253538insAAAAAA

Select item 14915540377.

rs1491554037 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:77878786 (GRCh38)
12:78272566 (GRCh37)
Canonical SPDI:: NC_000012.12:77878785:AT:
Gene:: NAV3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.77878786_77878787del, NC_000012.11:g.78272566_78272567del

Select item 14915438888.

rs1491543888 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 12:78206853 (GRCh38)
12:78600633 (GRCh37)
Canonical SPDI:: NC_000012.12:78206852:AC:
Gene:: NAV3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.78206853_78206854del, NC_000012.11:g.78600633_78600634del

Select item 14915425509.

rs1491542550 has merged into rs371335111 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 12:77691333 (GRCh38)
12:78085113 (GRCh37)
Canonical SPDI:: NC_000012.12:77691331:TGTGTGT:T,NC_000012.12:77691331:TGTGTGT:TGT,NC_000012.12:77691331:TGTGTGT:TGTGT,NC_000012.12:77691331:TGTGTGT:TGTGTGTGT,NC_000012.12:77691331:TGTGTGT:TGTGTGTGTGTGT
Gene:: NAV3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TGTG=0.225/9 (GENOME_DK)
HGVS:: NC_000012.12:g.77691333_77691338del, NC_000012.12:g.77691333GT[1], NC_000012.12:g.77691333GT[2], NC_000012.12:g.77691333GT[4], NC_000012.12:g.77691333GT[6], NC_000012.11:g.78085113_78085118del, NC_000012.11:g.78085113GT[1], NC_000012.11:g.78085113GT[2], NC_000012.11:g.78085113GT[4], NC_000012.11:g.78085113GT[6]

Select item 149154067910.

rs1491540679 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 12:77859757 (GRCh38)
12:78253537 (GRCh37)
Canonical SPDI:: NC_000012.12:77859756:GC:
Gene:: NAV3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.77859757_77859758del, NC_000012.11:g.78253537_78253538del

Select item 149152967711.

rs1491529677 has merged into rs10573795 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:77686434 (GRCh38)
12:78080214 (GRCh37)
Canonical SPDI:: NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77686424:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NAV3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.1056/407 (ALSPAC)
HGVS:: NC_000012.12:g.77686434_77686447del, NC_000012.12:g.77686435_77686447del, NC_000012.12:g.77686439_77686447del, NC_000012.12:g.77686440_77686447del, NC_000012.12:g.77686441_77686447del, NC_000012.12:g.77686442_77686447del, NC_000012.12:g.77686443_77686447del, NC_000012.12:g.77686444_77686447del, NC_000012.12:g.77686445_77686447del, NC_000012.12:g.77686446_77686447del, NC_000012.12:g.77686447del, NC_000012.12:g.77686447dup, NC_000012.12:g.77686446_77686447dup, NC_000012.12:g.77686445_77686447dup, NC_000012.12:g.77686444_77686447dup, NC_000012.12:g.77686431_77686447dup, NC_000012.11:g.78080214_78080227del, NC_000012.11:g.78080215_78080227del, NC_000012.11:g.78080219_78080227del, NC_000012.11:g.78080220_78080227del, NC_000012.11:g.78080221_78080227del, NC_000012.11:g.78080222_78080227del, NC_000012.11:g.78080223_78080227del, NC_000012.11:g.78080224_78080227del, NC_000012.11:g.78080225_78080227del, NC_000012.11:g.78080226_78080227del, NC_000012.11:g.78080227del, NC_000012.11:g.78080227dup, NC_000012.11:g.78080226_78080227dup, NC_000012.11:g.78080225_78080227dup, NC_000012.11:g.78080224_78080227dup, NC_000012.11:g.78080211_78080227dup

Select item 149152899212.

rs1491528992 has merged into rs34144410 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 12:78146403 (GRCh38)
12:78540183 (GRCh37)
Canonical SPDI:: NC_000012.12:78146394:AAAAAAAAAA:AAAAAAAA,NC_000012.12:78146394:AAAAAAAAAA:AAAAAAAAA,NC_000012.12:78146394:AAAAAAAAAA:AAAAAAAAAAA
Gene:: NAV3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0.001401/13 (ALFA)
A=0.275/11 (GENOME_DK)
A=0.292293/77367 (TOPMED)
A=0.298333/179 (NorthernSweden)
A=0.307589/1378 (Estonian)
A=0.312662/1205 (ALSPAC)
A=0.315631/315 (GoNL)
A=0.321197/1191 (TWINSUK)
A=0.321712/50494 (GnomAD_exomes)
A=0.415888/89 (Vietnamese)
HGVS:: NC_000012.12:g.78146403_78146404del, NC_000012.12:g.78146404del, NC_000012.12:g.78146404dup, NC_000012.11:g.78540183_78540184del, NC_000012.11:g.78540184del, NC_000012.11:g.78540184dup

Select item 149152748213.

rs1491527482 has merged into rs748531378 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:77766751 (GRCh38)
12:78160531 (GRCh37)
Canonical SPDI:: NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:77766735:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NAV3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.025/1 (GENOME_DK)
TTTTTTTTTTTTTTT=0.49566/12322 (TOMMO)
HGVS:: NC_000012.12:g.77766751_77766771del, NC_000012.12:g.77766753_77766771del, NC_000012.12:g.77766754_77766771del, NC_000012.12:g.77766755_77766771del, NC_000012.12:g.77766756_77766771del, NC_000012.12:g.77766757_77766771del, NC_000012.12:g.77766758_77766771del, NC_000012.12:g.77766759_77766771del, NC_000012.12:g.77766760_77766771del, NC_000012.12:g.77766761_77766771del, NC_000012.12:g.77766762_77766771del, NC_000012.12:g.77766763_77766771del, NC_000012.12:g.77766764_77766771del, NC_000012.12:g.77766765_77766771del, NC_000012.12:g.77766766_77766771del, NC_000012.12:g.77766767_77766771del, NC_000012.12:g.77766768_77766771del, NC_000012.12:g.77766769_77766771del, NC_000012.12:g.77766770_77766771del, NC_000012.12:g.77766771del, NC_000012.12:g.77766771dup, NC_000012.12:g.77766770_77766771dup, NC_000012.12:g.77766769_77766771dup, NC_000012.12:g.77766768_77766771dup, NC_000012.12:g.77766767_77766771dup, NC_000012.12:g.77766766_77766771dup, NC_000012.12:g.77766765_77766771dup, NC_000012.12:g.77766764_77766771dup, NC_000012.12:g.77766763_77766771dup, NC_000012.12:g.77766762_77766771dup, NC_000012.12:g.77766761_77766771dup, NC_000012.12:g.77766760_77766771dup, NC_000012.12:g.77766759_77766771dup, NC_000012.12:g.77766758_77766771dup, NC_000012.12:g.77766757_77766771dup, NC_000012.12:g.77766756_77766771dup, NC_000012.12:g.77766755_77766771dup, NC_000012.12:g.77766754_77766771dup, NC_000012.12:g.77766753_77766771dup, NC_000012.12:g.77766752_77766771dup, NC_000012.12:g.77766751_77766771dup, NC_000012.12:g.77766750_77766771dup, NC_000012.12:g.77766749_77766771dup, NC_000012.12:g.77766748_77766771dup, NC_000012.12:g.77766746_77766771dup, NC_000012.12:g.77766745_77766771dup, NC_000012.12:g.77766744_77766771dup, NC_000012.11:g.78160531_78160551del, NC_000012.11:g.78160533_78160551del, NC_000012.11:g.78160534_78160551del, NC_000012.11:g.78160535_78160551del, NC_000012.11:g.78160536_78160551del, NC_000012.11:g.78160537_78160551del, NC_000012.11:g.78160538_78160551del, NC_000012.11:g.78160539_78160551del, NC_000012.11:g.78160540_78160551del, NC_000012.11:g.78160541_78160551del, NC_000012.11:g.78160542_78160551del, NC_000012.11:g.78160543_78160551del, NC_000012.11:g.78160544_78160551del, NC_000012.11:g.78160545_78160551del, NC_000012.11:g.78160546_78160551del, NC_000012.11:g.78160547_78160551del, NC_000012.11:g.78160548_78160551del, NC_000012.11:g.78160549_78160551del, NC_000012.11:g.78160550_78160551del, NC_000012.11:g.78160551del, NC_000012.11:g.78160551dup, NC_000012.11:g.78160550_78160551dup, NC_000012.11:g.78160549_78160551dup, NC_000012.11:g.78160548_78160551dup, NC_000012.11:g.78160547_78160551dup, NC_000012.11:g.78160546_78160551dup, NC_000012.11:g.78160545_78160551dup, NC_000012.11:g.78160544_78160551dup, NC_000012.11:g.78160543_78160551dup, NC_000012.11:g.78160542_78160551dup, NC_000012.11:g.78160541_78160551dup, NC_000012.11:g.78160540_78160551dup, NC_000012.11:g.78160539_78160551dup, NC_000012.11:g.78160538_78160551dup, NC_000012.11:g.78160537_78160551dup, NC_000012.11:g.78160536_78160551dup, NC_000012.11:g.78160535_78160551dup, NC_000012.11:g.78160534_78160551dup, NC_000012.11:g.78160533_78160551dup, NC_000012.11:g.78160532_78160551dup, NC_000012.11:g.78160531_78160551dup, NC_000012.11:g.78160530_78160551dup, NC_000012.11:g.78160529_78160551dup, NC_000012.11:g.78160528_78160551dup, NC_000012.11:g.78160526_78160551dup, NC_000012.11:g.78160525_78160551dup, NC_000012.11:g.78160524_78160551dup

Select item 149152542814.

rs1491525428 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAAATATATATAATATATAAC,TAAATATATATAATATATAAT [Show Flanks]
Chromosome:: 12:78162891 (GRCh38)
12:78556672 (GRCh37)
Canonical SPDI:: NC_000012.12:78162891::T,NC_000012.12:78162891::TAAATATATATAATATATAAC,NC_000012.12:78162891::TAAATATATATAATATATAAT
Gene:: NAV3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAATATATATAATATATAAC=0./0 (ALFA)
TAAATATATATAATATATAAC=0.000004/1 (TOPMED)
TAAATATATATAATATATAAT=0.000034/4 (GnomAD)
TAAATATATATAATATATAAT=0.000106/2 (TOMMO)
HGVS:: NC_000012.12:g.78162891_78162892insT, NC_000012.12:g.78162891_78162892insTAAATATATATAATATATAAC, NC_000012.12:g.78162891_78162892insTAAATATATATAATATATAAT, NC_000012.11:g.78556671_78556672insT, NC_000012.11:g.78556671_78556672insTAAATATATATAATATATAAC, NC_000012.11:g.78556671_78556672insTAAATATATATAATATATAAT

Select item 149151598215.

rs1491515982 has merged into rs143241072 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGC>-,GC,GCGCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGC [Show Flanks]
Chromosome:: 12:77977710 (GRCh38)
12:78371490 (GRCh37)
Canonical SPDI:: NC_000012.12:77977708:CGCGC:C,NC_000012.12:77977708:CGCGC:CGC,NC_000012.12:77977708:CGCGC:CGCGCGC,NC_000012.12:77977708:CGCGC:CGCGCGCGC,NC_000012.12:77977708:CGCGC:CGCGCGCGCGC,NC_000012.12:77977708:CGCGC:CGCGCGCGCGCGC
Gene:: NAV3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
CG=0.01557/197 (TOMMO)
HGVS:: NC_000012.12:g.77977710_77977713del, NC_000012.12:g.77977710GC[1], NC_000012.12:g.77977710GC[3], NC_000012.12:g.77977710GC[4], NC_000012.12:g.77977710GC[5], NC_000012.12:g.77977710GC[6], NC_000012.11:g.78371490_78371493del, NC_000012.11:g.78371490GC[1], NC_000012.11:g.78371490GC[3], NC_000012.11:g.78371490GC[4], NC_000012.11:g.78371490GC[5], NC_000012.11:g.78371490GC[6]

Select item 149151096116.

rs1491510961 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:78152335 (GRCh38)
12:78546115 (GRCh37)
Canonical SPDI:: NC_000012.12:78152333:TAT:T
Gene:: NAV3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000222/31 (GnomAD)
-=0.000227/60 (TOPMED)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000012.12:g.78152335_78152336del, NC_000012.11:g.78546115_78546116del

Select item 149150460017.

rs1491504600 [Homo sapiens]

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

Select item 149149695118.

rs1491496951 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:77859758 (GRCh38)
12:78253538 (GRCh37)
Canonical SPDI:: NC_000012.12:77859757:CA:
Gene:: NAV3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.77859758_77859759del, NC_000012.11:g.78253538_78253539del

Select item 149148484719.

rs1491484847 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:77843420 (GRCh38)
12:78237201 (GRCh37)
Canonical SPDI:: NC_000012.12:77843420::G
Gene:: NAV3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.009715/1357 (GnomAD)
HGVS:: NC_000012.12:g.77843420_77843421insG, NC_000012.11:g.78237200_78237201insG

Select item 149148296920.

rs1491482969 has merged into rs1008830348 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGC>-,GC,GCGCGC [Show Flanks]
Chromosome:: 12:77616728 (GRCh38)
12:78010508 (GRCh37)
Canonical SPDI:: NC_000012.12:77616725:GCGCGC:GC,NC_000012.12:77616725:GCGCGC:GCGC,NC_000012.12:77616725:GCGCGC:GCGCGCGC
Gene:: NAV3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
GC=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.77616726GC[1], NC_000012.12:g.77616726GC[2], NC_000012.12:g.77616726GC[4], NC_000012.11:g.78010506GC[1], NC_000012.11:g.78010506GC[2], NC_000012.11:g.78010506GC[4]

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