SNP Links for Gene (Select 2011) - SNP

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Select item 14915852691.

rs1491585269 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:63856322 (GRCh38)
11:63623795 (GRCh37)
Canonical SPDI:: NC_000011.10:63856322::G
Gene:: MARK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00093/11 (ALFA)
G=0.02961/318 (TOMMO)
HGVS:: NC_000011.10:g.63856322_63856323insG, NC_000011.9:g.63623794_63623795insG, NG_029771.1:g.22395_22396insG

Select item 14915841882.

rs1491584188 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT,CTTTCTT [Show Flanks]
Chromosome:: 11:63899250 (GRCh38)
11:63666723 (GRCh37)
Canonical SPDI:: NC_000011.10:63899250:TT:TTCTT,NC_000011.10:63899250:TT:TTCTTTCTT
Gene:: MARK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.63899252_63899253insCTT, NC_000011.10:g.63899251_63899252TTCT[2]T[1], NC_000011.9:g.63666724_63666725insCTT, NC_000011.9:g.63666723_63666724TTCT[2]T[1], NG_029771.1:g.65325_65326insCTT, NG_029771.1:g.65324_65325TTCT[2]T[1]

Select item 14915769243.

rs1491576924 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTA [Show Flanks]
Chromosome:: 11:63856337 (GRCh38)
11:63623810 (GRCh37)
Canonical SPDI:: NC_000011.10:63856337::TA,NC_000011.10:63856337::TTA
Gene:: MARK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTA=0./0 (ALFA)
HGVS:: NC_000011.10:g.63856337_63856338insTA, NC_000011.10:g.63856337_63856338insTTA, NC_000011.9:g.63623809_63623810insTA, NC_000011.9:g.63623809_63623810insTTA, NG_029771.1:g.22410_22411insTA, NG_029771.1:g.22410_22411insTTA

Select item 14915766484.

rs1491576648 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:63885548 (GRCh38)
11:63653021 (GRCh37)
Canonical SPDI:: NC_000011.10:63885548::T
Gene:: MARK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.63885548_63885549insT, NC_000011.9:g.63653020_63653021insT, NG_029771.1:g.51621_51622insT

Select item 14915410885.

rs1491541088 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 11:63872886 (GRCh38)
11:63640358 (GRCh37)
Canonical SPDI:: NC_000011.10:63872885:TG:
Gene:: MARK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000108/14 (GnomAD)
HGVS:: NC_000011.10:g.63872886_63872887del, NC_000011.9:g.63640358_63640359del, NG_029771.1:g.38959_38960del

Select item 14915056026.

rs1491505602 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTA [Show Flanks]
Chromosome:: 11:63878384 (GRCh38)
11:63645857 (GRCh37)
Canonical SPDI:: NC_000011.10:63878384::TTA
Gene:: MARK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000011.10:g.63878384_63878385insTTA, NC_000011.9:g.63645856_63645857insTTA, NG_029771.1:g.44457_44458insTTA

Select item 14914740067.

rs1491474006 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:63895659 (GRCh38)
11:63663132 (GRCh37)
Canonical SPDI:: NC_000011.10:63895659::A
Gene:: MARK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00009/1 (GnomAD)
HGVS:: NC_000011.10:g.63895659_63895660insA, NC_000011.9:g.63663131_63663132insA, NG_029771.1:g.61732_61733insA

Select item 14914589488.

rs1491458948 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTCCTG [Show Flanks]
Chromosome:: 11:63906156 (GRCh38)
11:63673629 (GRCh37)
Canonical SPDI:: NC_000011.10:63906156:CTGTGTCCTGTGTCCTG:CTGTGTCCTGTGTCCTGTGTCCTG
Gene:: MARK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTGTGTCCTGTGTCCTGTGTCCTG=0./0 (ALFA)
CTGTGTC=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.63906160TGTCCTG[3], NC_000011.9:g.63673632TGTCCTG[3], NG_029771.1:g.72233TGTCCTG[3]

Select item 14914072499.

rs1491407249 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 11:63878384 (GRCh38)
11:63645856 (GRCh37)
Canonical SPDI:: NC_000011.10:63878383:TG:
Gene:: MARK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.016523/196 (ALFA)
-=0.001018/106 (GnomAD)
-=0.002205/4 (Korea1K)
-=0.014818/247 (TOMMO)
HGVS:: NC_000011.10:g.63878384_63878385del, NC_000011.9:g.63645856_63645857del, NG_029771.1:g.44457_44458del

Select item 149138858210.

rs1491388582 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:63866351 (GRCh38)
11:63633823 (GRCh37)
Canonical SPDI:: NC_000011.10:63866350:CA:
Gene:: MARK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.63866351_63866352del, NC_000011.9:g.63633823_63633824del, NG_029771.1:g.32424_32425del

Select item 149138190911.

rs1491381909 has merged into rs750155967 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:63910662 (GRCh38)
11:63678134 (GRCh37)
Canonical SPDI:: NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63910652:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MARK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.63910662_63910666del, NC_000011.10:g.63910663_63910666del, NC_000011.10:g.63910665_63910666del, NC_000011.10:g.63910666del, NC_000011.10:g.63910666dup, NC_000011.10:g.63910665_63910666dup, NC_000011.10:g.63910664_63910666dup, NC_000011.10:g.63910663_63910666dup, NC_000011.10:g.63910662_63910666dup, NC_000011.10:g.63910661_63910666dup, NC_000011.10:g.63910660_63910666dup, NC_000011.10:g.63910659_63910666dup, NC_000011.10:g.63910658_63910666dup, NC_000011.10:g.63910657_63910666dup, NC_000011.10:g.63910653_63910666T[24]GTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.63910656_63910666dup, NC_000011.10:g.63910655_63910666dup, NC_000011.10:g.63910654_63910666dup, NC_000011.10:g.63910653_63910666dup, NC_000011.10:g.63910666_63910667insTTTTTTTTTTTTTTT, NC_000011.10:g.63910666_63910667insTTTTTTTTTTTTTTTT, NC_000011.10:g.63910666_63910667insTTTTTTTTTTTTTTTTT, NC_000011.10:g.63910666_63910667insTTTTTTTTTTTTTTTTTT, NC_000011.10:g.63910666_63910667insTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.63910666_63910667insTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.63910666_63910667insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.63910666_63910667insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.63910666_63910667insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.63678134_63678138del, NC_000011.9:g.63678135_63678138del, NC_000011.9:g.63678137_63678138del, NC_000011.9:g.63678138del, NC_000011.9:g.63678138dup, NC_000011.9:g.63678137_63678138dup, NC_000011.9:g.63678136_63678138dup, NC_000011.9:g.63678135_63678138dup, NC_000011.9:g.63678134_63678138dup, NC_000011.9:g.63678133_63678138dup, NC_000011.9:g.63678132_63678138dup, NC_000011.9:g.63678131_63678138dup, NC_000011.9:g.63678130_63678138dup, NC_000011.9:g.63678129_63678138dup, NC_000011.9:g.63678125_63678138T[24]GTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.63678128_63678138dup, NC_000011.9:g.63678127_63678138dup, NC_000011.9:g.63678126_63678138dup, NC_000011.9:g.63678125_63678138dup, NC_000011.9:g.63678138_63678139insTTTTTTTTTTTTTTT, NC_000011.9:g.63678138_63678139insTTTTTTTTTTTTTTTT, NC_000011.9:g.63678138_63678139insTTTTTTTTTTTTTTTTT, NC_000011.9:g.63678138_63678139insTTTTTTTTTTTTTTTTTT, NC_000011.9:g.63678138_63678139insTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.63678138_63678139insTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.63678138_63678139insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.63678138_63678139insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.63678138_63678139insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029771.1:g.76735_76739del, NG_029771.1:g.76736_76739del, NG_029771.1:g.76738_76739del, NG_029771.1:g.76739del, NG_029771.1:g.76739dup, NG_029771.1:g.76738_76739dup, NG_029771.1:g.76737_76739dup, NG_029771.1:g.76736_76739dup, NG_029771.1:g.76735_76739dup, NG_029771.1:g.76734_76739dup, NG_029771.1:g.76733_76739dup, NG_029771.1:g.76732_76739dup, NG_029771.1:g.76731_76739dup, NG_029771.1:g.76730_76739dup, NG_029771.1:g.76726_76739T[24]GTTTTTTTTTTTTTTTTTT[1], NG_029771.1:g.76729_76739dup, NG_029771.1:g.76728_76739dup, NG_029771.1:g.76727_76739dup, NG_029771.1:g.76726_76739dup, NG_029771.1:g.76739_76740insTTTTTTTTTTTTTTT, NG_029771.1:g.76739_76740insTTTTTTTTTTTTTTTT, NG_029771.1:g.76739_76740insTTTTTTTTTTTTTTTTT, NG_029771.1:g.76739_76740insTTTTTTTTTTTTTTTTTT, NG_029771.1:g.76739_76740insTTTTTTTTTTTTTTTTTTTTT, NG_029771.1:g.76739_76740insTTTTTTTTTTTTTTTTTTTTTT, NG_029771.1:g.76739_76740insTTTTTTTTTTTTTTTTTTTTTTT, NG_029771.1:g.76739_76740insTTTTTTTTTTTTTTTTTTTTTTTT, NG_029771.1:g.76739_76740insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_004954.5:c.*1425_*1429del, NM_004954.5:c.*1426_*1429del, NM_004954.5:c.*1428_*1429del, NM_004954.5:c.*1429del, NM_004954.5:c.*1429dup, NM_004954.5:c.*1428_*1429dup, NM_004954.5:c.*1427_*1429dup, NM_004954.5:c.*1426_*1429dup, NM_004954.5:c.*1425_*1429dup, NM_004954.5:c.*1424_*1429dup, NM_004954.5:c.*1423_*1429dup, NM_004954.5:c.*1422_*1429dup, NM_004954.5:c.*1421_*1429dup, NM_004954.5:c.*1420_*1429dup, NM_004954.5:c.*1416_*1429T[24]GTTTTTTTTTTTTTTTTTT[1], NM_004954.5:c.*1419_*1429dup, NM_004954.5:c.*1418_*1429dup, NM_004954.5:c.*1417_*1429dup, NM_004954.5:c.*1416_*1429dup, NM_004954.5:c.*1429_*1430insTTTTTTTTTTTTTTT, NM_004954.5:c.*1429_*1430insTTTTTTTTTTTTTTTT, NM_004954.5:c.*1429_*1430insTTTTTTTTTTTTTTTTT, NM_004954.5:c.*1429_*1430insTTTTTTTTTTTTTTTTTT, NM_004954.5:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTT, NM_004954.5:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTT, NM_004954.5:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTT, NM_004954.5:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTT, NM_004954.5:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_004954.4:c.*1425_*1429del, NM_004954.4:c.*1426_*1429del, NM_004954.4:c.*1428_*1429del, NM_004954.4:c.*1429del, NM_004954.4:c.*1429dup, NM_004954.4:c.*1428_*1429dup, NM_004954.4:c.*1427_*1429dup, NM_004954.4:c.*1426_*1429dup, NM_004954.4:c.*1425_*1429dup, NM_004954.4:c.*1424_*1429dup, NM_004954.4:c.*1423_*1429dup, NM_004954.4:c.*1422_*1429dup, NM_004954.4:c.*1421_*1429dup, NM_004954.4:c.*1420_*1429dup, NM_004954.4:c.*1416_*1429T[24]GTTTTTTTTTTTTTTTTTT[1], NM_004954.4:c.*1419_*1429dup, NM_004954.4:c.*1418_*1429dup, NM_004954.4:c.*1417_*1429dup, NM_004954.4:c.*1416_*1429dup, NM_004954.4:c.*1429_*1430insTTTTTTTTTTTTTTT, NM_004954.4:c.*1429_*1430insTTTTTTTTTTTTTTTT, NM_004954.4:c.*1429_*1430insTTTTTTTTTTTTTTTTT, NM_004954.4:c.*1429_*1430insTTTTTTTTTTTTTTTTTT, NM_004954.4:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTT, NM_004954.4:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTT, NM_004954.4:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTT, NM_004954.4:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTT, NM_004954.4:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_017490.4:c.*1425_*1429del, NM_017490.4:c.*1426_*1429del, NM_017490.4:c.*1428_*1429del, NM_017490.4:c.*1429del, NM_017490.4:c.*1429dup, NM_017490.4:c.*1428_*1429dup, NM_017490.4:c.*1427_*1429dup, NM_017490.4:c.*1426_*1429dup, NM_017490.4:c.*1425_*1429dup, NM_017490.4:c.*1424_*1429dup, NM_017490.4:c.*1423_*1429dup, NM_017490.4:c.*1422_*1429dup, NM_017490.4:c.*1421_*1429dup, NM_017490.4:c.*1420_*1429dup, NM_017490.4:c.*1416_*1429T[24]GTTTTTTTTTTTTTTTTTT[1], NM_017490.4:c.*1419_*1429dup, NM_017490.4:c.*1418_*1429dup, NM_017490.4:c.*1417_*1429dup, NM_017490.4:c.*1416_*1429dup, NM_017490.4:c.*1429_*1430insTTTTTTTTTTTTTTT, NM_017490.4:c.*1429_*1430insTTTTTTTTTTTTTTTT, NM_017490.4:c.*1429_*1430insTTTTTTTTTTTTTTTTT, NM_017490.4:c.*1429_*1430insTTTTTTTTTTTTTTTTTT, NM_017490.4:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTT, NM_017490.4:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTT, NM_017490.4:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTT, NM_017490.4:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTT, NM_017490.4:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_017490.3:c.*1425_*1429del, NM_017490.3:c.*1426_*1429del, NM_017490.3:c.*1428_*1429del, NM_017490.3:c.*1429del, NM_017490.3:c.*1429dup, NM_017490.3:c.*1428_*1429dup, NM_017490.3:c.*1427_*1429dup, NM_017490.3:c.*1426_*1429dup, NM_017490.3:c.*1425_*1429dup, NM_017490.3:c.*1424_*1429dup, NM_017490.3:c.*1423_*1429dup, NM_017490.3:c.*1422_*1429dup, NM_017490.3:c.*1421_*1429dup, NM_017490.3:c.*1420_*1429dup, NM_017490.3:c.*1416_*1429T[24]GTTTTTTTTTTTTTTTTTT[1], NM_017490.3:c.*1419_*1429dup, NM_017490.3:c.*1418_*1429dup, NM_017490.3:c.*1417_*1429dup, NM_017490.3:c.*1416_*1429dup, NM_017490.3:c.*1429_*1430insTTTTTTTTTTTTTTT, NM_017490.3:c.*1429_*1430insTTTTTTTTTTTTTTTT, NM_017490.3:c.*1429_*1430insTTTTTTTTTTTTTTTTT, NM_017490.3:c.*1429_*1430insTTTTTTTTTTTTTTTTTT, NM_017490.3:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTT, NM_017490.3:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTT, NM_017490.3:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTT, NM_017490.3:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTT, NM_017490.3:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001039469.3:c.*1425_*1429del, NM_001039469.3:c.*1426_*1429del, NM_001039469.3:c.*1428_*1429del, NM_001039469.3:c.*1429del, NM_001039469.3:c.*1429dup, NM_001039469.3:c.*1428_*1429dup, NM_001039469.3:c.*1427_*1429dup, NM_001039469.3:c.*1426_*1429dup, NM_001039469.3:c.*1425_*1429dup, NM_001039469.3:c.*1424_*1429dup, NM_001039469.3:c.*1423_*1429dup, NM_001039469.3:c.*1422_*1429dup, NM_001039469.3:c.*1421_*1429dup, NM_001039469.3:c.*1420_*1429dup, NM_001039469.3:c.*1416_*1429T[24]GTTTTTTTTTTTTTTTTTT[1], NM_001039469.3:c.*1419_*1429dup, NM_001039469.3:c.*1418_*1429dup, NM_001039469.3:c.*1417_*1429dup, NM_001039469.3:c.*1416_*1429dup, NM_001039469.3:c.*1429_*1430insTTTTTTTTTTTTTTT, NM_001039469.3:c.*1429_*1430insTTTTTTTTTTTTTTTT, NM_001039469.3:c.*1429_*1430insTTTTTTTTTTTTTTTTT, NM_001039469.3:c.*1429_*1430insTTTTTTTTTTTTTTTTTT, NM_001039469.3:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTT, NM_001039469.3:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTT, NM_001039469.3:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTT, NM_001039469.3:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001039469.3:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001039469.2:c.*1425_*1429del, NM_001039469.2:c.*1426_*1429del, NM_001039469.2:c.*1428_*1429del, NM_001039469.2:c.*1429del, NM_001039469.2:c.*1429dup, NM_001039469.2:c.*1428_*1429dup, NM_001039469.2:c.*1427_*1429dup, NM_001039469.2:c.*1426_*1429dup, NM_001039469.2:c.*1425_*1429dup, NM_001039469.2:c.*1424_*1429dup, NM_001039469.2:c.*1423_*1429dup, NM_001039469.2:c.*1422_*1429dup, NM_001039469.2:c.*1421_*1429dup, NM_001039469.2:c.*1420_*1429dup, NM_001039469.2:c.*1416_*1429T[24]GTTTTTTTTTTTTTTTTTT[1], NM_001039469.2:c.*1419_*1429dup, NM_001039469.2:c.*1418_*1429dup, NM_001039469.2:c.*1417_*1429dup, NM_001039469.2:c.*1416_*1429dup, NM_001039469.2:c.*1429_*1430insTTTTTTTTTTTTTTT, NM_001039469.2:c.*1429_*1430insTTTTTTTTTTTTTTTT, NM_001039469.2:c.*1429_*1430insTTTTTTTTTTTTTTTTT, NM_001039469.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTT, NM_001039469.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTT, NM_001039469.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTT, NM_001039469.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTT, NM_001039469.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001039469.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001163296.2:c.*1425_*1429del, NM_001163296.2:c.*1426_*1429del, NM_001163296.2:c.*1428_*1429del, NM_001163296.2:c.*1429del, NM_001163296.2:c.*1429dup, NM_001163296.2:c.*1428_*1429dup, NM_001163296.2:c.*1427_*1429dup, NM_001163296.2:c.*1426_*1429dup, NM_001163296.2:c.*1425_*1429dup, NM_001163296.2:c.*1424_*1429dup, NM_001163296.2:c.*1423_*1429dup, NM_001163296.2:c.*1422_*1429dup, NM_001163296.2:c.*1421_*1429dup, NM_001163296.2:c.*1420_*1429dup, NM_001163296.2:c.*1416_*1429T[24]GTTTTTTTTTTTTTTTTTT[1], NM_001163296.2:c.*1419_*1429dup, NM_001163296.2:c.*1418_*1429dup, NM_001163296.2:c.*1417_*1429dup, NM_001163296.2:c.*1416_*1429dup, NM_001163296.2:c.*1429_*1430insTTTTTTTTTTTTTTT, NM_001163296.2:c.*1429_*1430insTTTTTTTTTTTTTTTT, NM_001163296.2:c.*1429_*1430insTTTTTTTTTTTTTTTTT, NM_001163296.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTT, NM_001163296.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTT, NM_001163296.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTT, NM_001163296.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTT, NM_001163296.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001163296.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001163296.1:c.*1425_*1429del, NM_001163296.1:c.*1426_*1429del, NM_001163296.1:c.*1428_*1429del, NM_001163296.1:c.*1429del, NM_001163296.1:c.*1429dup, NM_001163296.1:c.*1428_*1429dup, NM_001163296.1:c.*1427_*1429dup, NM_001163296.1:c.*1426_*1429dup, NM_001163296.1:c.*1425_*1429dup, NM_001163296.1:c.*1424_*1429dup, NM_001163296.1:c.*1423_*1429dup, NM_001163296.1:c.*1422_*1429dup, NM_001163296.1:c.*1421_*1429dup, NM_001163296.1:c.*1420_*1429dup, NM_001163296.1:c.*1416_*1429T[24]GTTTTTTTTTTTTTTTTTT[1], NM_001163296.1:c.*1419_*1429dup, NM_001163296.1:c.*1418_*1429dup, NM_001163296.1:c.*1417_*1429dup, NM_001163296.1:c.*1416_*1429dup, NM_001163296.1:c.*1429_*1430insTTTTTTTTTTTTTTT, NM_001163296.1:c.*1429_*1430insTTTTTTTTTTTTTTTT, NM_001163296.1:c.*1429_*1430insTTTTTTTTTTTTTTTTT, NM_001163296.1:c.*1429_*1430insTTTTTTTTTTTTTTTTTT, NM_001163296.1:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTT, NM_001163296.1:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTT, NM_001163296.1:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTT, NM_001163296.1:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001163296.1:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001163297.2:c.*1425_*1429del, NM_001163297.2:c.*1426_*1429del, NM_001163297.2:c.*1428_*1429del, NM_001163297.2:c.*1429del, NM_001163297.2:c.*1429dup, NM_001163297.2:c.*1428_*1429dup, NM_001163297.2:c.*1427_*1429dup, NM_001163297.2:c.*1426_*1429dup, NM_001163297.2:c.*1425_*1429dup, NM_001163297.2:c.*1424_*1429dup, NM_001163297.2:c.*1423_*1429dup, NM_001163297.2:c.*1422_*1429dup, NM_001163297.2:c.*1421_*1429dup, NM_001163297.2:c.*1420_*1429dup, NM_001163297.2:c.*1416_*1429T[24]GTTTTTTTTTTTTTTTTTT[1], NM_001163297.2:c.*1419_*1429dup, NM_001163297.2:c.*1418_*1429dup, NM_001163297.2:c.*1417_*1429dup, NM_001163297.2:c.*1416_*1429dup, NM_001163297.2:c.*1429_*1430insTTTTTTTTTTTTTTT, NM_001163297.2:c.*1429_*1430insTTTTTTTTTTTTTTTT, NM_001163297.2:c.*1429_*1430insTTTTTTTTTTTTTTTTT, NM_001163297.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTT, NM_001163297.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTT, NM_001163297.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTT, NM_001163297.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTT, NM_001163297.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001163297.2:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001163297.1:c.*1425_*1429del, NM_001163297.1:c.*1426_*1429del, NM_001163297.1:c.*1428_*1429del, NM_001163297.1:c.*1429del, NM_001163297.1:c.*1429dup, NM_001163297.1:c.*1428_*1429dup, NM_001163297.1:c.*1427_*1429dup, NM_001163297.1:c.*1426_*1429dup, NM_001163297.1:c.*1425_*1429dup, NM_001163297.1:c.*1424_*1429dup, NM_001163297.1:c.*1423_*1429dup, NM_001163297.1:c.*1422_*1429dup, NM_001163297.1:c.*1421_*1429dup, NM_001163297.1:c.*1420_*1429dup, NM_001163297.1:c.*1416_*1429T[24]GTTTTTTTTTTTTTTTTTT[1], NM_001163297.1:c.*1419_*1429dup, NM_001163297.1:c.*1418_*1429dup, NM_001163297.1:c.*1417_*1429dup, NM_001163297.1:c.*1416_*1429dup, NM_001163297.1:c.*1429_*1430insTTTTTTTTTTTTTTT, NM_001163297.1:c.*1429_*1430insTTTTTTTTTTTTTTTT, NM_001163297.1:c.*1429_*1430insTTTTTTTTTTTTTTTTT, NM_001163297.1:c.*1429_*1430insTTTTTTTTTTTTTTTTTT, NM_001163297.1:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTT, NM_001163297.1:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTT, NM_001163297.1:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTT, NM_001163297.1:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001163297.1:c.*1429_*1430insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149132581312.

rs1491325813 has merged into rs61169251 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 11:63906157 (GRCh38)
11:63673629 (GRCh37)
Canonical SPDI:: NC_000011.10:63906155:TCT:T,NC_000011.10:63906155:TCT:TCTCT
Gene:: MARK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.63906157_63906158del, NC_000011.10:g.63906157_63906158dup, NC_000011.9:g.63673629_63673630del, NC_000011.9:g.63673629_63673630dup, NG_029771.1:g.72230_72231del, NG_029771.1:g.72230_72231dup

Select item 149131269213.

rs1491312692 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:63908603 (GRCh38)
11:63676076 (GRCh37)
Canonical SPDI:: NC_000011.10:63908603:A:AA
Gene:: MARK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.000038/10 (TOPMED)
A=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.63908604dup, NC_000011.9:g.63676076dup, NG_029771.1:g.74677dup

Select item 149124157314.

rs1491241573 has merged into rs1358748879 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:63856336 (GRCh38)
11:63623808 (GRCh37)
Canonical SPDI:: NC_000011.10:63856321:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:63856321:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:63856321:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:63856321:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:63856321:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:63856321:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:63856321:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63856321:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63856321:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MARK2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.63856336_63856337del, NC_000011.10:g.63856337del, NC_000011.10:g.63856337dup, NC_000011.10:g.63856336_63856337dup, NC_000011.10:g.63856335_63856337dup, NC_000011.10:g.63856334_63856337dup, NC_000011.10:g.63856325_63856337dup, NC_000011.10:g.63856324_63856337dup, NC_000011.10:g.63856323_63856337dup, NC_000011.9:g.63623808_63623809del, NC_000011.9:g.63623809del, NC_000011.9:g.63623809dup, NC_000011.9:g.63623808_63623809dup, NC_000011.9:g.63623807_63623809dup, NC_000011.9:g.63623806_63623809dup, NC_000011.9:g.63623797_63623809dup, NC_000011.9:g.63623796_63623809dup, NC_000011.9:g.63623795_63623809dup, NG_029771.1:g.22409_22410del, NG_029771.1:g.22410del, NG_029771.1:g.22410dup, NG_029771.1:g.22409_22410dup, NG_029771.1:g.22408_22410dup, NG_029771.1:g.22407_22410dup, NG_029771.1:g.22398_22410dup, NG_029771.1:g.22397_22410dup, NG_029771.1:g.22396_22410dup

Select item 149113649015.

rs1491136490 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCCCC [Show Flanks]
Chromosome:: 11:63872886 (GRCh38)
11:63640359 (GRCh37)
Canonical SPDI:: NC_000011.10:63872886:GCCCCC:GCCCCCGCCCCC
Gene:: MARK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GCCCCCGCCCCC=0./0 (ALFA)
GCCCCC=0.00001/1 (GnomAD)
HGVS:: NC_000011.10:g.63872887_63872892dup, NC_000011.9:g.63640359_63640364dup, NG_029771.1:g.38960_38965dup

Select item 149112521216.

rs1491125212 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:63856337 (GRCh38)
11:63623809 (GRCh37)
Canonical SPDI:: NC_000011.10:63856336:TA:
Gene:: MARK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00181/30 (TOMMO)
-=0.00472/248 (GnomAD)
HGVS:: NC_000011.10:g.63856337_63856338del, NC_000011.9:g.63623809_63623810del, NG_029771.1:g.22410_22411del

Select item 149109964117.

rs1491099641 has merged into rs66492279 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:63899257 (GRCh38)
11:63666729 (GRCh37)
Canonical SPDI:: NC_000011.10:63899249:TTTTTTTTTTTTT:TTTTTTT,NC_000011.10:63899249:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:63899249:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:63899249:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:63899249:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:63899249:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:63899249:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:63899249:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: MARK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTT=0.02413/93 (ALSPAC)
TTTT=0.02454/91 (TWINSUK)
-=0.06167/37 (NorthernSweden)
-=0.34225/1714 (1000Genomes)
HGVS:: NC_000011.10:g.63899257_63899262del, NC_000011.10:g.63899260_63899262del, NC_000011.10:g.63899261_63899262del, NC_000011.10:g.63899262del, NC_000011.10:g.63899262dup, NC_000011.10:g.63899261_63899262dup, NC_000011.10:g.63899259_63899262dup, NC_000011.10:g.63899257_63899262dup, NC_000011.9:g.63666729_63666734del, NC_000011.9:g.63666732_63666734del, NC_000011.9:g.63666733_63666734del, NC_000011.9:g.63666734del, NC_000011.9:g.63666734dup, NC_000011.9:g.63666733_63666734dup, NC_000011.9:g.63666731_63666734dup, NC_000011.9:g.63666729_63666734dup, NG_029771.1:g.65330_65335del, NG_029771.1:g.65333_65335del, NG_029771.1:g.65334_65335del, NG_029771.1:g.65335del, NG_029771.1:g.65335dup, NG_029771.1:g.65334_65335dup, NG_029771.1:g.65332_65335dup, NG_029771.1:g.65330_65335dup

Select item 149106728318.

rs1491067283 has merged into rs34074167 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:63850327 (GRCh38)
11:63617799 (GRCh37)
Canonical SPDI:: NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63850315:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MARK2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.63850327_63850340del, NC_000011.10:g.63850328_63850340del, NC_000011.10:g.63850329_63850340del, NC_000011.10:g.63850330_63850340del, NC_000011.10:g.63850331_63850340del, NC_000011.10:g.63850332_63850340del, NC_000011.10:g.63850333_63850340del, NC_000011.10:g.63850334_63850340del, NC_000011.10:g.63850335_63850340del, NC_000011.10:g.63850336_63850340del, NC_000011.10:g.63850337_63850340del, NC_000011.10:g.63850338_63850340del, NC_000011.10:g.63850339_63850340del, NC_000011.10:g.63850340del, NC_000011.10:g.63850340dup, NC_000011.10:g.63850339_63850340dup, NC_000011.10:g.63850338_63850340dup, NC_000011.10:g.63850337_63850340dup, NC_000011.10:g.63850336_63850340dup, NC_000011.10:g.63850335_63850340dup, NC_000011.10:g.63850334_63850340dup, NC_000011.10:g.63850333_63850340dup, NC_000011.10:g.63850332_63850340dup, NC_000011.10:g.63850331_63850340dup, NC_000011.10:g.63850330_63850340dup, NC_000011.10:g.63850329_63850340dup, NC_000011.10:g.63850328_63850340dup, NC_000011.10:g.63850327_63850340dup, NC_000011.10:g.63850326_63850340dup, NC_000011.10:g.63850325_63850340dup, NC_000011.10:g.63850324_63850340dup, NC_000011.10:g.63850323_63850340dup, NC_000011.10:g.63850322_63850340dup, NC_000011.10:g.63850321_63850340dup, NC_000011.10:g.63850320_63850340dup, NC_000011.10:g.63850340_63850341insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.63850340_63850341insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.63617799_63617812del, NC_000011.9:g.63617800_63617812del, NC_000011.9:g.63617801_63617812del, NC_000011.9:g.63617802_63617812del, NC_000011.9:g.63617803_63617812del, NC_000011.9:g.63617804_63617812del, NC_000011.9:g.63617805_63617812del, NC_000011.9:g.63617806_63617812del, NC_000011.9:g.63617807_63617812del, NC_000011.9:g.63617808_63617812del, NC_000011.9:g.63617809_63617812del, NC_000011.9:g.63617810_63617812del, NC_000011.9:g.63617811_63617812del, NC_000011.9:g.63617812del, NC_000011.9:g.63617812dup, NC_000011.9:g.63617811_63617812dup, NC_000011.9:g.63617810_63617812dup, NC_000011.9:g.63617809_63617812dup, NC_000011.9:g.63617808_63617812dup, NC_000011.9:g.63617807_63617812dup, NC_000011.9:g.63617806_63617812dup, NC_000011.9:g.63617805_63617812dup, NC_000011.9:g.63617804_63617812dup, NC_000011.9:g.63617803_63617812dup, NC_000011.9:g.63617802_63617812dup, NC_000011.9:g.63617801_63617812dup, NC_000011.9:g.63617800_63617812dup, NC_000011.9:g.63617799_63617812dup, NC_000011.9:g.63617798_63617812dup, NC_000011.9:g.63617797_63617812dup, NC_000011.9:g.63617796_63617812dup, NC_000011.9:g.63617795_63617812dup, NC_000011.9:g.63617794_63617812dup, NC_000011.9:g.63617793_63617812dup, NC_000011.9:g.63617792_63617812dup, NC_000011.9:g.63617812_63617813insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.63617812_63617813insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029771.1:g.16400_16413del, NG_029771.1:g.16401_16413del, NG_029771.1:g.16402_16413del, NG_029771.1:g.16403_16413del, NG_029771.1:g.16404_16413del, NG_029771.1:g.16405_16413del, NG_029771.1:g.16406_16413del, NG_029771.1:g.16407_16413del, NG_029771.1:g.16408_16413del, NG_029771.1:g.16409_16413del, NG_029771.1:g.16410_16413del, NG_029771.1:g.16411_16413del, NG_029771.1:g.16412_16413del, NG_029771.1:g.16413del, NG_029771.1:g.16413dup, NG_029771.1:g.16412_16413dup, NG_029771.1:g.16411_16413dup, NG_029771.1:g.16410_16413dup, NG_029771.1:g.16409_16413dup, NG_029771.1:g.16408_16413dup, NG_029771.1:g.16407_16413dup, NG_029771.1:g.16406_16413dup, NG_029771.1:g.16405_16413dup, NG_029771.1:g.16404_16413dup, NG_029771.1:g.16403_16413dup, NG_029771.1:g.16402_16413dup, NG_029771.1:g.16401_16413dup, NG_029771.1:g.16400_16413dup, NG_029771.1:g.16399_16413dup, NG_029771.1:g.16398_16413dup, NG_029771.1:g.16397_16413dup, NG_029771.1:g.16396_16413dup, NG_029771.1:g.16395_16413dup, NG_029771.1:g.16394_16413dup, NG_029771.1:g.16393_16413dup, NG_029771.1:g.16413_16414insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029771.1:g.16413_16414insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149102527319.

rs1491025273 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:63910652 (GRCh38)
11:63678124 (GRCh37)
Canonical SPDI:: NC_000011.10:63910650:TAT:T
Gene:: MARK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.00034/4 (ALFA)
-=0.00161/37 (GnomAD)
HGVS:: NC_000011.10:g.63910652_63910653del, NC_000011.9:g.63678124_63678125del, NG_029771.1:g.76725_76726del, NM_004954.5:c.*1415_*1416del, NM_004954.4:c.*1415_*1416del, NM_017490.4:c.*1415_*1416del, NM_017490.3:c.*1415_*1416del, NM_001039469.3:c.*1415_*1416del, NM_001039469.2:c.*1415_*1416del, NM_001163296.2:c.*1415_*1416del, NM_001163296.1:c.*1415_*1416del, NM_001163297.2:c.*1415_*1416del, NM_001163297.1:c.*1415_*1416del, NG_079314.1:g.495_496insAT

Select item 149102186020.

rs1491021860 has merged into rs535377951 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 11:63906147 (GRCh38)
11:63673619 (GRCh37)
Canonical SPDI:: NC_000011.10:63906131:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000011.10:63906131:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000011.10:63906131:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000011.10:63906131:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000011.10:63906131:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:63906131:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:63906131:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:63906131:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:63906131:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:63906131:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:63906131:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: MARK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000011.10:g.63906133GT[7], NC_000011.10:g.63906133GT[8], NC_000011.10:g.63906133GT[9], NC_000011.10:g.63906133GT[10], NC_000011.10:g.63906133GT[11], NC_000011.10:g.63906133GT[13], NC_000011.10:g.63906133GT[14], NC_000011.10:g.63906133GT[15], NC_000011.10:g.63906133GT[16], NC_000011.10:g.63906133GT[17], NC_000011.10:g.63906133GT[18], NC_000011.9:g.63673605GT[7], NC_000011.9:g.63673605GT[8], NC_000011.9:g.63673605GT[9], NC_000011.9:g.63673605GT[10], NC_000011.9:g.63673605GT[11], NC_000011.9:g.63673605GT[13], NC_000011.9:g.63673605GT[14], NC_000011.9:g.63673605GT[15], NC_000011.9:g.63673605GT[16], NC_000011.9:g.63673605GT[17], NC_000011.9:g.63673605GT[18], NG_029771.1:g.72206GT[7], NG_029771.1:g.72206GT[8], NG_029771.1:g.72206GT[9], NG_029771.1:g.72206GT[10], NG_029771.1:g.72206GT[11], NG_029771.1:g.72206GT[13], NG_029771.1:g.72206GT[14], NG_029771.1:g.72206GT[15], NG_029771.1:g.72206GT[16], NG_029771.1:g.72206GT[17], NG_029771.1:g.72206GT[18]

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