SNP Links for Nucleotide (Select 262231780) - SNP

Links from Nucleotide

Items: 1 to 20 of 16154

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Select item 14915662531.

rs1491566253 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:45542688 (GRCh38)
19:46045946 (GRCh37)
Canonical SPDI:: NC_000019.10:45542687:TG:
Gene:: OPA3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.45542688_45542689del, NC_000019.9:g.46045946_46045947del, NG_013332.1:g.47176_47177del

Select item 14914576412.

rs1491457641 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:45545180 (GRCh38)
19:46048439 (GRCh37)
Canonical SPDI:: NC_000019.10:45545180::C
Gene:: OPA3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000063/8 (GnomAD)
C=0.000129/2 (TOMMO)
HGVS:: NC_000019.10:g.45545180_45545181insC, NC_000019.9:g.46048438_46048439insC, NG_013332.1:g.44684_44685insG

Select item 14914573003.

rs1491457300 has merged into rs749982867 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:45567348 (GRCh38)
19:46070606 (GRCh37)
Canonical SPDI:: NC_000019.10:45567339:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:45567339:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:45567339:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:45567339:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:45567339:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:45567339:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:45567339:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:45567339:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:45567339:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:45567339:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45567339:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45567339:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45567339:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45567339:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0./0 (GENOME_DK)
AAAAAA=0.0214/11 (NorthernSweden)
HGVS:: NC_000019.10:g.45567348_45567358del, NC_000019.10:g.45567352_45567358del, NC_000019.10:g.45567353_45567358del, NC_000019.10:g.45567354_45567358del, NC_000019.10:g.45567355_45567358del, NC_000019.10:g.45567356_45567358del, NC_000019.10:g.45567357_45567358del, NC_000019.10:g.45567358del, NC_000019.10:g.45567358dup, NC_000019.10:g.45567357_45567358dup, NC_000019.10:g.45567356_45567358dup, NC_000019.10:g.45567355_45567358dup, NC_000019.10:g.45567353_45567358dup, NC_000019.10:g.45567346_45567358dup, NC_000019.9:g.46070606_46070616del, NC_000019.9:g.46070610_46070616del, NC_000019.9:g.46070611_46070616del, NC_000019.9:g.46070612_46070616del, NC_000019.9:g.46070613_46070616del, NC_000019.9:g.46070614_46070616del, NC_000019.9:g.46070615_46070616del, NC_000019.9:g.46070616del, NC_000019.9:g.46070616dup, NC_000019.9:g.46070615_46070616dup, NC_000019.9:g.46070614_46070616dup, NC_000019.9:g.46070613_46070616dup, NC_000019.9:g.46070611_46070616dup, NC_000019.9:g.46070604_46070616dup, NG_013332.1:g.22515_22525del, NG_013332.1:g.22519_22525del, NG_013332.1:g.22520_22525del, NG_013332.1:g.22521_22525del, NG_013332.1:g.22522_22525del, NG_013332.1:g.22523_22525del, NG_013332.1:g.22524_22525del, NG_013332.1:g.22525del, NG_013332.1:g.22525dup, NG_013332.1:g.22524_22525dup, NG_013332.1:g.22523_22525dup, NG_013332.1:g.22522_22525dup, NG_013332.1:g.22520_22525dup, NG_013332.1:g.22513_22525dup

Select item 14914445244.

rs1491444524 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:45576547 (GRCh38)
19:46079805 (GRCh37)
Canonical SPDI:: NC_000019.10:45576546:CA:
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.006995/114 (ALFA)
-=0.000319/5 (TOMMO)
-=0.003592/23 (1000Genomes)
-=0.006708/844 (GnomAD)
-=0.015/9 (NorthernSweden)
-=0.031655/122 (ALSPAC)
-=0.032632/121 (TWINSUK)
HGVS:: NC_000019.10:g.45576547_45576548del, NC_000019.9:g.46079805_46079806del, NG_013332.1:g.13317_13318del

Select item 14914154225.

rs1491415422 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 19:45572596 (GRCh38)
19:46075854 (GRCh37)
Canonical SPDI:: NC_000019.10:45572595:TT:
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00009/8 (GnomAD)
HGVS:: NC_000019.10:g.45572596_45572597del, NC_000019.9:g.46075854_46075855del, NG_013332.1:g.17268_17269del

Select item 14913810516.

rs1491381051 has merged into rs76467278 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:45562538 (GRCh38)
19:46065796 (GRCh37)
Canonical SPDI:: NC_000019.10:45562536:AGA:A
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00295/35 (ALFA)
-=0.005/32 (1000Genomes)
-=0.00886/683 (GnomAD)
HGVS:: NC_000019.10:g.45562538_45562539del, NC_000019.9:g.46065796_46065797del, NG_013332.1:g.27327_27328del

Select item 14913489797.

rs1491348979 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:45567339 (GRCh38)
19:46070597 (GRCh37)
Canonical SPDI:: NC_000019.10:45567338:CA:
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.45567339_45567340del, NC_000019.9:g.46070597_46070598del, NG_013332.1:g.22525_22526del

Select item 14912887618.

rs1491288761 [Homo sapiens]

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

Select item 14912614539.

rs1491261453 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:45530787 (GRCh38)
19:46034045 (GRCh37)
Canonical SPDI:: NC_000019.10:45530784:AGAG:AG
Gene:: OPA3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45530785AG[1], NC_000019.9:g.46034043AG[1], NG_013332.1:g.59077CT[1]

Select item 149124881610.

rs1491248816 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:45576535 (GRCh38)
19:46079794 (GRCh37)
Canonical SPDI:: NC_000019.10:45576535::A
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00004/4 (GnomAD)
HGVS:: NC_000019.10:g.45576535_45576536insA, NC_000019.9:g.46079793_46079794insA, NG_013332.1:g.13329_13330insT

Select item 149123898511.

rs1491238985 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:45530785 (GRCh38)
19:46034044 (GRCh37)
Canonical SPDI:: NC_000019.10:45530785:G:GG
Gene:: OPA3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000162/3 (ALFA)
G=0.000022/3 (GnomAD)
G=0.00067/3 (Estonian)
HGVS:: NC_000019.10:g.45530786dup, NC_000019.9:g.46034044dup, NG_013332.1:g.59079dup

Select item 149121532412.

rs1491215324 has merged into rs1294393142 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 19:45562367 (GRCh38)
19:46065625 (GRCh37)
Canonical SPDI:: NC_000019.10:45562364:AAAA:AA,NC_000019.10:45562364:AAAA:AAA,NC_000019.10:45562364:AAAA:AAAAA,NC_000019.10:45562364:AAAA:AAAAAA
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000026/3 (GnomAD)
-=0.000323/5 (TOMMO)
HGVS:: NC_000019.10:g.45562367_45562368del, NC_000019.10:g.45562368del, NC_000019.10:g.45562368dup, NC_000019.10:g.45562367_45562368dup, NC_000019.9:g.46065625_46065626del, NC_000019.9:g.46065626del, NC_000019.9:g.46065626dup, NC_000019.9:g.46065625_46065626dup, NG_013332.1:g.27499_27500del, NG_013332.1:g.27500del, NG_013332.1:g.27500dup, NG_013332.1:g.27499_27500dup

Select item 149118575913.

rs1491185759 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,GC,TC [Show Flanks]
Chromosome:: 19:45576544 (GRCh38)
19:46079803 (GRCh37)
Canonical SPDI:: NC_000019.10:45576544:C:CAC,NC_000019.10:45576544:C:CGC,NC_000019.10:45576544:C:CTC
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
HGVS:: NC_000019.10:g.45576545_45576546insAC, NC_000019.10:g.45576545_45576546insGC, NC_000019.10:g.45576545_45576546insTC, NC_000019.9:g.46079803_46079804insAC, NC_000019.9:g.46079803_46079804insGC, NC_000019.9:g.46079803_46079804insTC, NG_013332.1:g.13320_13321insTG, NG_013332.1:g.13320_13321insCG, NG_013332.1:g.13320_13321insAG

Select item 149117441514.

rs1491174415 has merged into rs66483717 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 19:45570989 (GRCh38)
19:46074247 (GRCh37)
Canonical SPDI:: NC_000019.10:45570978:GGGGGGGGGGGG:GGGGGGGGGG,NC_000019.10:45570978:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000019.10:45570978:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000019.10:45570978:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000019.10:45570978:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000019.10:45570978:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000019.10:45570978:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGG=0./0 (ALFA)
-=0.1893/948 (1000Genomes)
HGVS:: NC_000019.10:g.45570989_45570990del, NC_000019.10:g.45570990del, NC_000019.10:g.45570990dup, NC_000019.10:g.45570989_45570990dup, NC_000019.10:g.45570988_45570990dup, NC_000019.10:g.45570987_45570990dup, NC_000019.10:g.45570986_45570990dup, NC_000019.9:g.46074247_46074248del, NC_000019.9:g.46074248del, NC_000019.9:g.46074248dup, NC_000019.9:g.46074247_46074248dup, NC_000019.9:g.46074246_46074248dup, NC_000019.9:g.46074245_46074248dup, NC_000019.9:g.46074244_46074248dup, NG_013332.1:g.18885_18886del, NG_013332.1:g.18886del, NG_013332.1:g.18886dup, NG_013332.1:g.18885_18886dup, NG_013332.1:g.18884_18886dup, NG_013332.1:g.18883_18886dup, NG_013332.1:g.18882_18886dup

Select item 149116037415.

rs1491160374 has merged into rs1218744939 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:45562352 (GRCh38)
19:46065610 (GRCh37)
Canonical SPDI:: NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45562352_45562363del, NC_000019.10:g.45562353_45562363del, NC_000019.10:g.45562357_45562363del, NC_000019.10:g.45562359_45562363del, NC_000019.10:g.45562360_45562363del, NC_000019.10:g.45562361_45562363del, NC_000019.10:g.45562362_45562363del, NC_000019.10:g.45562363del, NC_000019.10:g.45562363dup, NC_000019.10:g.45562362_45562363dup, NC_000019.10:g.45562361_45562363dup, NC_000019.10:g.45562359_45562363dup, NC_000019.10:g.45562352_45562363dup, NC_000019.9:g.46065610_46065621del, NC_000019.9:g.46065611_46065621del, NC_000019.9:g.46065615_46065621del, NC_000019.9:g.46065617_46065621del, NC_000019.9:g.46065618_46065621del, NC_000019.9:g.46065619_46065621del, NC_000019.9:g.46065620_46065621del, NC_000019.9:g.46065621del, NC_000019.9:g.46065621dup, NC_000019.9:g.46065620_46065621dup, NC_000019.9:g.46065619_46065621dup, NC_000019.9:g.46065617_46065621dup, NC_000019.9:g.46065610_46065621dup, NG_013332.1:g.27510_27521del, NG_013332.1:g.27511_27521del, NG_013332.1:g.27515_27521del, NG_013332.1:g.27517_27521del, NG_013332.1:g.27518_27521del, NG_013332.1:g.27519_27521del, NG_013332.1:g.27520_27521del, NG_013332.1:g.27521del, NG_013332.1:g.27521dup, NG_013332.1:g.27520_27521dup, NG_013332.1:g.27519_27521dup, NG_013332.1:g.27517_27521dup, NG_013332.1:g.27510_27521dup

Select item 149115309216.

rs1491153092 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 19:45576535 (GRCh38)
19:46079793 (GRCh37)
Canonical SPDI:: NC_000019.10:45576534:TC:
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00051/6 (ALFA)
-=0.00012/6 (GnomAD)
HGVS:: NC_000019.10:g.45576535_45576536del, NC_000019.9:g.46079793_46079794del, NG_013332.1:g.13329_13330del

Select item 149115074417.

rs1491150744 [Homo sapiens]

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

Select item 149113651018.

rs1491136510 has merged into rs34014947 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 19:45587185 (GRCh38)
19:46090443 (GRCh37)
Canonical SPDI:: NC_000019.10:45587172:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:45587172:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:45587172:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:45587172:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:45587172:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:45587172:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.2951/157 (NorthernSweden)
A=0.3588/1797 (1000Genomes)
HGVS:: NC_000019.10:g.45587185_45587186del, NC_000019.10:g.45587186del, NC_000019.10:g.45587186dup, NC_000019.10:g.45587185_45587186dup, NC_000019.10:g.45587184_45587186dup, NC_000019.10:g.45587183_45587186dup, NC_000019.9:g.46090443_46090444del, NC_000019.9:g.46090444del, NC_000019.9:g.46090444dup, NC_000019.9:g.46090443_46090444dup, NC_000019.9:g.46090442_46090444dup, NC_000019.9:g.46090441_46090444dup, NG_013332.1:g.2691_2692del, NG_013332.1:g.2692del, NG_013332.1:g.2692dup, NG_013332.1:g.2691_2692dup, NG_013332.1:g.2690_2692dup, NG_013332.1:g.2689_2692dup

Select item 149112748619.

rs1491127486 [Homo sapiens]

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

Select item 149112077220.

rs1491120772 has merged into rs1181396046 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:45537407 (GRCh38)
19:46040665 (GRCh37)
Canonical SPDI:: NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.45537407_45537422del, NC_000019.10:g.45537410_45537422del, NC_000019.10:g.45537412_45537422del, NC_000019.10:g.45537413_45537422del, NC_000019.10:g.45537414_45537422del, NC_000019.10:g.45537415_45537422del, NC_000019.10:g.45537416_45537422del, NC_000019.10:g.45537417_45537422del, NC_000019.10:g.45537418_45537422del, NC_000019.10:g.45537419_45537422del, NC_000019.10:g.45537420_45537422del, NC_000019.10:g.45537421_45537422del, NC_000019.10:g.45537422del, NC_000019.10:g.45537422dup, NC_000019.10:g.45537421_45537422dup, NC_000019.10:g.45537420_45537422dup, NC_000019.10:g.45537419_45537422dup, NC_000019.10:g.45537418_45537422dup, NC_000019.10:g.45537417_45537422dup, NC_000019.10:g.45537416_45537422dup, NC_000019.10:g.45537415_45537422dup, NC_000019.10:g.45537414_45537422dup, NC_000019.10:g.45537413_45537422dup, NC_000019.10:g.45537412_45537422dup, NC_000019.10:g.45537411_45537422dup, NC_000019.10:g.45537410_45537422dup, NC_000019.10:g.45537409_45537422dup, NC_000019.10:g.45537408_45537422dup, NC_000019.10:g.45537407_45537422dup, NC_000019.10:g.45537406_45537422dup, NC_000019.10:g.45537405_45537422dup, NC_000019.10:g.45537403_45537422dup, NC_000019.10:g.45537402_45537422dup, NC_000019.10:g.45537401_45537422dup, NC_000019.10:g.45537400_45537422dup, NC_000019.10:g.45537398_45537422dup, NC_000019.10:g.45537422_45537423insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.45537422_45537423insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.45537422_45537423insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.45537422_45537423insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.45537422_45537423insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.46040665_46040680del, NC_000019.9:g.46040668_46040680del, NC_000019.9:g.46040670_46040680del, NC_000019.9:g.46040671_46040680del, NC_000019.9:g.46040672_46040680del, NC_000019.9:g.46040673_46040680del, NC_000019.9:g.46040674_46040680del, NC_000019.9:g.46040675_46040680del, NC_000019.9:g.46040676_46040680del, NC_000019.9:g.46040677_46040680del, NC_000019.9:g.46040678_46040680del, NC_000019.9:g.46040679_46040680del, NC_000019.9:g.46040680del, NC_000019.9:g.46040680dup, NC_000019.9:g.46040679_46040680dup, NC_000019.9:g.46040678_46040680dup, NC_000019.9:g.46040677_46040680dup, NC_000019.9:g.46040676_46040680dup, NC_000019.9:g.46040675_46040680dup, NC_000019.9:g.46040674_46040680dup, NC_000019.9:g.46040673_46040680dup, NC_000019.9:g.46040672_46040680dup, NC_000019.9:g.46040671_46040680dup, NC_000019.9:g.46040670_46040680dup, NC_000019.9:g.46040669_46040680dup, NC_000019.9:g.46040668_46040680dup, NC_000019.9:g.46040667_46040680dup, NC_000019.9:g.46040666_46040680dup, NC_000019.9:g.46040665_46040680dup, NC_000019.9:g.46040664_46040680dup, NC_000019.9:g.46040663_46040680dup, NC_000019.9:g.46040661_46040680dup, NC_000019.9:g.46040660_46040680dup, NC_000019.9:g.46040659_46040680dup, NC_000019.9:g.46040658_46040680dup, NC_000019.9:g.46040656_46040680dup, NC_000019.9:g.46040680_46040681insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.46040680_46040681insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.46040680_46040681insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.46040680_46040681insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.46040680_46040681insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_013332.1:g.52453_52468del, NG_013332.1:g.52456_52468del, NG_013332.1:g.52458_52468del, NG_013332.1:g.52459_52468del, NG_013332.1:g.52460_52468del, NG_013332.1:g.52461_52468del, NG_013332.1:g.52462_52468del, NG_013332.1:g.52463_52468del, NG_013332.1:g.52464_52468del, NG_013332.1:g.52465_52468del, NG_013332.1:g.52466_52468del, NG_013332.1:g.52467_52468del, NG_013332.1:g.52468del, NG_013332.1:g.52468dup, NG_013332.1:g.52467_52468dup, NG_013332.1:g.52466_52468dup, NG_013332.1:g.52465_52468dup, NG_013332.1:g.52464_52468dup, NG_013332.1:g.52463_52468dup, NG_013332.1:g.52462_52468dup, NG_013332.1:g.52461_52468dup, NG_013332.1:g.52460_52468dup, NG_013332.1:g.52459_52468dup, NG_013332.1:g.52458_52468dup, NG_013332.1:g.52457_52468dup, NG_013332.1:g.52456_52468dup, NG_013332.1:g.52455_52468dup, NG_013332.1:g.52454_52468dup, NG_013332.1:g.52453_52468dup, NG_013332.1:g.52452_52468dup, NG_013332.1:g.52451_52468dup, NG_013332.1:g.52449_52468dup, NG_013332.1:g.52448_52468dup, NG_013332.1:g.52447_52468dup, NG_013332.1:g.52446_52468dup, NG_013332.1:g.52444_52468dup, NG_013332.1:g.52468_52469insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013332.1:g.52468_52469insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013332.1:g.52468_52469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013332.1:g.52468_52469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013332.1:g.52468_52469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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