SNP Links for Gene (Select 23522) - SNP

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Select item 14915525841.

rs1491552584 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:74967329 (GRCh38)
10:76727087 (GRCh37)
Canonical SPDI:: NC_000010.11:74967328:CA:
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000010.11:g.74967329_74967330del, NC_000010.10:g.76727087_76727088del, NG_032048.1:g.145917_145918del, NW_009646202.1:g.172005_172006del

Select item 14915493262.

rs1491549326 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:74858176 (GRCh38)
10:76617935 (GRCh37)
Canonical SPDI:: NC_000010.11:74858176:A:AA
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000010.11:g.74858177dup, NC_000010.10:g.76617935dup, NG_032048.1:g.36765dup, NW_009646202.1:g.62853dup

Select item 14915091863.

rs1491509186 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:74921108 (GRCh38)
10:76680866 (GRCh37)
Canonical SPDI:: NC_000010.11:74921107:AT:
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.74921108_74921109del, NC_000010.10:g.76680866_76680867del, NG_032048.1:g.99696_99697del, NW_009646202.1:g.125784_125785del

Select item 14915044544.

rs1491504454 has merged into rs11365400 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:74878629 (GRCh38)
10:76638387 (GRCh37)
Canonical SPDI:: NC_000010.11:74878619:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:74878619:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:74878619:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:74878619:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:74878619:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:74878619:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:74878619:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:74878619:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:74878619:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:74878619:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:74878619:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:74878619:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAA=0.0056/3 (NorthernSweden)
HGVS:: NC_000010.11:g.74878629_74878639del, NC_000010.11:g.74878636_74878639del, NC_000010.11:g.74878637_74878639del, NC_000010.11:g.74878638_74878639del, NC_000010.11:g.74878639del, NC_000010.11:g.74878639dup, NC_000010.11:g.74878638_74878639dup, NC_000010.11:g.74878637_74878639dup, NC_000010.11:g.74878636_74878639dup, NC_000010.11:g.74878635_74878639dup, NC_000010.11:g.74878634_74878639dup, NC_000010.11:g.74878632_74878639dup, NC_000010.10:g.76638387_76638397del, NC_000010.10:g.76638394_76638397del, NC_000010.10:g.76638395_76638397del, NC_000010.10:g.76638396_76638397del, NC_000010.10:g.76638397del, NC_000010.10:g.76638397dup, NC_000010.10:g.76638396_76638397dup, NC_000010.10:g.76638395_76638397dup, NC_000010.10:g.76638394_76638397dup, NC_000010.10:g.76638393_76638397dup, NC_000010.10:g.76638392_76638397dup, NC_000010.10:g.76638390_76638397dup, NG_032048.1:g.57217_57227del, NG_032048.1:g.57224_57227del, NG_032048.1:g.57225_57227del, NG_032048.1:g.57226_57227del, NG_032048.1:g.57227del, NG_032048.1:g.57227dup, NG_032048.1:g.57226_57227dup, NG_032048.1:g.57225_57227dup, NG_032048.1:g.57224_57227dup, NG_032048.1:g.57223_57227dup, NG_032048.1:g.57222_57227dup, NG_032048.1:g.57220_57227dup, NW_009646202.1:g.83305_83315del, NW_009646202.1:g.83312_83315del, NW_009646202.1:g.83313_83315del, NW_009646202.1:g.83314_83315del, NW_009646202.1:g.83315del, NW_009646202.1:g.83315dup, NW_009646202.1:g.83314_83315dup, NW_009646202.1:g.83313_83315dup, NW_009646202.1:g.83312_83315dup, NW_009646202.1:g.83311_83315dup, NW_009646202.1:g.83310_83315dup, NW_009646202.1:g.83308_83315dup

Select item 14915040035.

rs1491504003 has merged into rs969484133 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 10:75025571 (GRCh38)
10:76785329 (GRCh37)
Canonical SPDI:: NC_000010.11:75025570:TTTTTTTTTT:TTTTTTTTT,NC_000010.11:75025570:TTTTTTTTTT:TTTTTTTTTTT
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000071/1 (TOMMO)
-=0.000076/20 (TOPMED)
HGVS:: NC_000010.11:g.75025580del, NC_000010.11:g.75025580dup, NC_000010.10:g.76785338del, NC_000010.10:g.76785338dup, NG_032048.1:g.204168del, NG_032048.1:g.204168dup, NW_009646202.1:g.230256del, NW_009646202.1:g.230256dup

Select item 14914779286.

rs1491477928 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATT [Show Flanks]
Chromosome:: 10:74885064 (GRCh38)
10:76644823 (GRCh37)
Canonical SPDI:: NC_000010.11:74885064:ATT:ATTTATT
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATTTATT=0./0 (ALFA)
HGVS:: NC_000010.11:g.74885067_74885068insTATT, NC_000010.10:g.76644825_76644826insTATT, NG_032048.1:g.63655_63656insTATT, NW_009646202.1:g.89743_89744insTATT

Select item 14914778547.

rs1491477854 has merged into rs1160950109 [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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:74828572 (GRCh38)
10:76588330 (GRCh37)
Canonical SPDI:: NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74828562:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.74828572_74828585del, NC_000010.11:g.74828573_74828585del, NC_000010.11:g.74828574_74828585del, NC_000010.11:g.74828575_74828585del, NC_000010.11:g.74828576_74828585del, NC_000010.11:g.74828577_74828585del, NC_000010.11:g.74828578_74828585del, NC_000010.11:g.74828579_74828585del, NC_000010.11:g.74828580_74828585del, NC_000010.11:g.74828581_74828585del, NC_000010.11:g.74828582_74828585del, NC_000010.11:g.74828583_74828585del, NC_000010.11:g.74828584_74828585del, NC_000010.11:g.74828585del, NC_000010.11:g.74828585dup, NC_000010.11:g.74828584_74828585dup, NC_000010.11:g.74828583_74828585dup, NC_000010.11:g.74828582_74828585dup, NC_000010.11:g.74828581_74828585dup, NC_000010.11:g.74828580_74828585dup, NC_000010.11:g.74828579_74828585dup, NC_000010.11:g.74828578_74828585dup, NC_000010.11:g.74828577_74828585dup, NC_000010.11:g.74828576_74828585dup, NC_000010.11:g.74828575_74828585dup, NC_000010.11:g.74828574_74828585dup, NC_000010.11:g.74828565_74828585dup, NC_000010.11:g.74828585_74828586insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.76588330_76588343del, NC_000010.10:g.76588331_76588343del, NC_000010.10:g.76588332_76588343del, NC_000010.10:g.76588333_76588343del, NC_000010.10:g.76588334_76588343del, NC_000010.10:g.76588335_76588343del, NC_000010.10:g.76588336_76588343del, NC_000010.10:g.76588337_76588343del, NC_000010.10:g.76588338_76588343del, NC_000010.10:g.76588339_76588343del, NC_000010.10:g.76588340_76588343del, NC_000010.10:g.76588341_76588343del, NC_000010.10:g.76588342_76588343del, NC_000010.10:g.76588343del, NC_000010.10:g.76588343dup, NC_000010.10:g.76588342_76588343dup, NC_000010.10:g.76588341_76588343dup, NC_000010.10:g.76588340_76588343dup, NC_000010.10:g.76588339_76588343dup, NC_000010.10:g.76588338_76588343dup, NC_000010.10:g.76588337_76588343dup, NC_000010.10:g.76588336_76588343dup, NC_000010.10:g.76588335_76588343dup, NC_000010.10:g.76588334_76588343dup, NC_000010.10:g.76588333_76588343dup, NC_000010.10:g.76588332_76588343dup, NC_000010.10:g.76588323_76588343dup, NC_000010.10:g.76588343_76588344insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032048.1:g.7160_7173del, NG_032048.1:g.7161_7173del, NG_032048.1:g.7162_7173del, NG_032048.1:g.7163_7173del, NG_032048.1:g.7164_7173del, NG_032048.1:g.7165_7173del, NG_032048.1:g.7166_7173del, NG_032048.1:g.7167_7173del, NG_032048.1:g.7168_7173del, NG_032048.1:g.7169_7173del, NG_032048.1:g.7170_7173del, NG_032048.1:g.7171_7173del, NG_032048.1:g.7172_7173del, NG_032048.1:g.7173del, NG_032048.1:g.7173dup, NG_032048.1:g.7172_7173dup, NG_032048.1:g.7171_7173dup, NG_032048.1:g.7170_7173dup, NG_032048.1:g.7169_7173dup, NG_032048.1:g.7168_7173dup, NG_032048.1:g.7167_7173dup, NG_032048.1:g.7166_7173dup, NG_032048.1:g.7165_7173dup, NG_032048.1:g.7164_7173dup, NG_032048.1:g.7163_7173dup, NG_032048.1:g.7162_7173dup, NG_032048.1:g.7153_7173dup, NG_032048.1:g.7173_7174insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_009646202.1:g.33248_33261del, NW_009646202.1:g.33249_33261del, NW_009646202.1:g.33250_33261del, NW_009646202.1:g.33251_33261del, NW_009646202.1:g.33252_33261del, NW_009646202.1:g.33253_33261del, NW_009646202.1:g.33254_33261del, NW_009646202.1:g.33255_33261del, NW_009646202.1:g.33256_33261del, NW_009646202.1:g.33257_33261del, NW_009646202.1:g.33258_33261del, NW_009646202.1:g.33259_33261del, NW_009646202.1:g.33260_33261del, NW_009646202.1:g.33261del, NW_009646202.1:g.33261dup, NW_009646202.1:g.33260_33261dup, NW_009646202.1:g.33259_33261dup, NW_009646202.1:g.33258_33261dup, NW_009646202.1:g.33257_33261dup, NW_009646202.1:g.33256_33261dup, NW_009646202.1:g.33255_33261dup, NW_009646202.1:g.33254_33261dup, NW_009646202.1:g.33253_33261dup, NW_009646202.1:g.33252_33261dup, NW_009646202.1:g.33251_33261dup, NW_009646202.1:g.33250_33261dup, NW_009646202.1:g.33241_33261dup, NW_009646202.1:g.33261_33262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914254308.

rs1491425430 [Homo sapiens]

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

Select item 14914152239.

rs1491415223 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:74885064 (GRCh38)
10:76644822 (GRCh37)
Canonical SPDI:: NC_000010.11:74885063:AA:
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000036/5 (GnomAD)
HGVS:: NC_000010.11:g.74885064_74885065del, NC_000010.10:g.76644822_76644823del, NG_032048.1:g.63652_63653del, NW_009646202.1:g.89740_89741del

Select item 149135891010.

rs1491358910 has merged into rs11479404 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:74927462 (GRCh38)
10:76687220 (GRCh37)
Canonical SPDI:: NC_000010.11:74927452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:74927452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:74927452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:74927452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:74927452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:74927452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:74927452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:74927452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:74927452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74927452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74927452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74927452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:74927452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
TTT=0.000004/1 (TOPMED)
-=0.021277/82 (ALSPAC)
-=0.457069/2289 (1000Genomes)
HGVS:: NC_000010.11:g.74927462_74927472del, NC_000010.11:g.74927463_74927472del, NC_000010.11:g.74927465_74927472del, NC_000010.11:g.74927468_74927472del, NC_000010.11:g.74927469_74927472del, NC_000010.11:g.74927470_74927472del, NC_000010.11:g.74927471_74927472del, NC_000010.11:g.74927472del, NC_000010.11:g.74927472dup, NC_000010.11:g.74927471_74927472dup, NC_000010.11:g.74927470_74927472dup, NC_000010.11:g.74927468_74927472dup, NC_000010.11:g.74927463_74927472dup, NC_000010.10:g.76687220_76687230del, NC_000010.10:g.76687221_76687230del, NC_000010.10:g.76687223_76687230del, NC_000010.10:g.76687226_76687230del, NC_000010.10:g.76687227_76687230del, NC_000010.10:g.76687228_76687230del, NC_000010.10:g.76687229_76687230del, NC_000010.10:g.76687230del, NC_000010.10:g.76687230dup, NC_000010.10:g.76687229_76687230dup, NC_000010.10:g.76687228_76687230dup, NC_000010.10:g.76687226_76687230dup, NC_000010.10:g.76687221_76687230dup, NG_032048.1:g.106050_106060del, NG_032048.1:g.106051_106060del, NG_032048.1:g.106053_106060del, NG_032048.1:g.106056_106060del, NG_032048.1:g.106057_106060del, NG_032048.1:g.106058_106060del, NG_032048.1:g.106059_106060del, NG_032048.1:g.106060del, NG_032048.1:g.106060dup, NG_032048.1:g.106059_106060dup, NG_032048.1:g.106058_106060dup, NG_032048.1:g.106056_106060dup, NG_032048.1:g.106051_106060dup, NW_009646202.1:g.132138_132148del, NW_009646202.1:g.132139_132148del, NW_009646202.1:g.132141_132148del, NW_009646202.1:g.132144_132148del, NW_009646202.1:g.132145_132148del, NW_009646202.1:g.132146_132148del, NW_009646202.1:g.132147_132148del, NW_009646202.1:g.132148del, NW_009646202.1:g.132148dup, NW_009646202.1:g.132147_132148dup, NW_009646202.1:g.132146_132148dup, NW_009646202.1:g.132144_132148dup, NW_009646202.1:g.132139_132148dup

Select item 149135598611.

rs1491355986 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:74888071 (GRCh38)
10:76647830 (GRCh37)
Canonical SPDI:: NC_000010.11:74888071::C
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000061/1 (ALFA)
C=0.000035/1 (TOMMO)
C=0.000164/23 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.74888071_74888072insC, NC_000010.10:g.76647829_76647830insC, NG_032048.1:g.66659_66660insC, NW_009646202.1:g.92747_92748insC

Select item 149134445512.

rs1491344455 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:74878619 (GRCh38)
10:76638377 (GRCh37)
Canonical SPDI:: NC_000010.11:74878618:CA:
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000010.11:g.74878619_74878620del, NC_000010.10:g.76638377_76638378del, NG_032048.1:g.57207_57208del, NW_009646202.1:g.83295_83296del

Select item 149133751213.

rs1491337512 has merged into rs10715826 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:74908557 (GRCh38)
10:76668315 (GRCh37)
Canonical SPDI:: NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:74908549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.328275/1644 (1000Genomes)
HGVS:: NC_000010.11:g.74908557_74908567del, NC_000010.11:g.74908558_74908567del, NC_000010.11:g.74908559_74908567del, NC_000010.11:g.74908561_74908567del, NC_000010.11:g.74908563_74908567del, NC_000010.11:g.74908564_74908567del, NC_000010.11:g.74908565_74908567del, NC_000010.11:g.74908566_74908567del, NC_000010.11:g.74908567del, NC_000010.11:g.74908567dup, NC_000010.11:g.74908566_74908567dup, NC_000010.11:g.74908565_74908567dup, NC_000010.11:g.74908564_74908567dup, NC_000010.11:g.74908563_74908567dup, NC_000010.11:g.74908562_74908567dup, NC_000010.11:g.74908560_74908567dup, NC_000010.11:g.74908559_74908567dup, NC_000010.10:g.76668315_76668325del, NC_000010.10:g.76668316_76668325del, NC_000010.10:g.76668317_76668325del, NC_000010.10:g.76668319_76668325del, NC_000010.10:g.76668321_76668325del, NC_000010.10:g.76668322_76668325del, NC_000010.10:g.76668323_76668325del, NC_000010.10:g.76668324_76668325del, NC_000010.10:g.76668325del, NC_000010.10:g.76668325dup, NC_000010.10:g.76668324_76668325dup, NC_000010.10:g.76668323_76668325dup, NC_000010.10:g.76668322_76668325dup, NC_000010.10:g.76668321_76668325dup, NC_000010.10:g.76668320_76668325dup, NC_000010.10:g.76668318_76668325dup, NC_000010.10:g.76668317_76668325dup, NG_032048.1:g.87145_87155del, NG_032048.1:g.87146_87155del, NG_032048.1:g.87147_87155del, NG_032048.1:g.87149_87155del, NG_032048.1:g.87151_87155del, NG_032048.1:g.87152_87155del, NG_032048.1:g.87153_87155del, NG_032048.1:g.87154_87155del, NG_032048.1:g.87155del, NG_032048.1:g.87155dup, NG_032048.1:g.87154_87155dup, NG_032048.1:g.87153_87155dup, NG_032048.1:g.87152_87155dup, NG_032048.1:g.87151_87155dup, NG_032048.1:g.87150_87155dup, NG_032048.1:g.87148_87155dup, NG_032048.1:g.87147_87155dup, NW_009646202.1:g.113233_113243del, NW_009646202.1:g.113234_113243del, NW_009646202.1:g.113235_113243del, NW_009646202.1:g.113237_113243del, NW_009646202.1:g.113239_113243del, NW_009646202.1:g.113240_113243del, NW_009646202.1:g.113241_113243del, NW_009646202.1:g.113242_113243del, NW_009646202.1:g.113243del, NW_009646202.1:g.113243dup, NW_009646202.1:g.113242_113243dup, NW_009646202.1:g.113241_113243dup, NW_009646202.1:g.113240_113243dup, NW_009646202.1:g.113239_113243dup, NW_009646202.1:g.113238_113243dup, NW_009646202.1:g.113236_113243dup, NW_009646202.1:g.113235_113243dup

Select item 149133445214.

rs1491334452 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 10:74831238 (GRCh38)
10:76590997 (GRCh37)
Canonical SPDI:: NC_000010.11:74831238:TGTGTGTGTGT:TGTGTGTGTGTGT
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
TG=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.74831240GT[6], NC_000010.10:g.76590998GT[6], NG_032048.1:g.9828GT[6], NW_009646202.1:g.35916GT[6]

Select item 149132624215.

rs1491326242 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 10:74830730 (GRCh38)
10:76590489 (GRCh37)
Canonical SPDI:: NC_000010.11:74830730:CA:CACA
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
CA=0.00004/2 (GnomAD)
CA=0.00062/4 (1000Genomes)
HGVS:: NC_000010.11:g.74830731_74830732dup, NC_000010.10:g.76590489_76590490dup, NG_032048.1:g.9319_9320dup, NW_009646202.1:g.35407_35408dup

Select item 149127581116.

rs1491275811 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:74831238 (GRCh38)
10:76590996 (GRCh37)
Canonical SPDI:: NC_000010.11:74831237:AT:
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000108/2 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000107/15 (GnomAD)
-=0.000117/31 (TOPMED)
-=0.000312/2 (1000Genomes)
-=0.00067/3 (Estonian)
HGVS:: NC_000010.11:g.74831238_74831239del, NC_000010.10:g.76590996_76590997del, NG_032048.1:g.9826_9827del, NW_009646202.1:g.35914_35915del

Select item 149121867617.

rs1491218676 has merged into rs1313427628 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 10:74830028 (GRCh38)
10:76589786 (GRCh37)
Canonical SPDI:: NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.04068/24 (NorthernSweden)
HGVS:: NC_000010.11:g.74830028_74830029del, NC_000010.11:g.74830029del, NC_000010.11:g.74830029dup, NC_000010.11:g.74830028_74830029dup, NC_000010.10:g.76589786_76589787del, NC_000010.10:g.76589787del, NC_000010.10:g.76589787dup, NC_000010.10:g.76589786_76589787dup, NG_032048.1:g.8616_8617del, NG_032048.1:g.8617del, NG_032048.1:g.8617dup, NG_032048.1:g.8616_8617dup, NW_009646202.1:g.34704_34705del, NW_009646202.1:g.34705del, NW_009646202.1:g.34705dup, NW_009646202.1:g.34704_34705dup

Select item 149121762618.

rs1491217626 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 10:74830730 (GRCh38)
10:76590488 (GRCh37)
Canonical SPDI:: NC_000010.11:74830729:TC:
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000010.11:g.74830730_74830731del, NC_000010.10:g.76590488_76590489del, NG_032048.1:g.9318_9319del, NW_009646202.1:g.35406_35407del

Select item 149120091619.

rs1491200916 has merged into rs143829532 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 10:74967343 (GRCh38)
10:76727101 (GRCh37)
Canonical SPDI:: NC_000010.11:74967329:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:74967329:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:74967329:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:74967329:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:74967329:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:74967329:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.47204/2364 (1000Genomes)
HGVS:: NC_000010.11:g.74967343_74967345del, NC_000010.11:g.74967344_74967345del, NC_000010.11:g.74967345del, NC_000010.11:g.74967345dup, NC_000010.11:g.74967344_74967345dup, NC_000010.11:g.74967343_74967345dup, NC_000010.10:g.76727101_76727103del, NC_000010.10:g.76727102_76727103del, NC_000010.10:g.76727103del, NC_000010.10:g.76727103dup, NC_000010.10:g.76727102_76727103dup, NC_000010.10:g.76727101_76727103dup, NG_032048.1:g.145931_145933del, NG_032048.1:g.145932_145933del, NG_032048.1:g.145933del, NG_032048.1:g.145933dup, NG_032048.1:g.145932_145933dup, NG_032048.1:g.145931_145933dup, NW_009646202.1:g.172019_172021del, NW_009646202.1:g.172020_172021del, NW_009646202.1:g.172021del, NW_009646202.1:g.172021dup, NW_009646202.1:g.172020_172021dup, NW_009646202.1:g.172019_172021dup

Select item 149118645420.

rs1491186454 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:74830016 (GRCh38)
10:76589774 (GRCh37)
Canonical SPDI:: NC_000010.11:74830015:CA:
Gene:: KAT6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.74830016_74830017del, NC_000010.10:g.76589774_76589775del, NG_032048.1:g.8604_8605del, NW_009646202.1:g.34692_34693del

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