SNP Links for Gene (Select 60506) - SNP

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Select item 14915778611.

rs1491577861 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: X:41464698 (GRCh38)
X:41323951 (GRCh37)
Canonical SPDI:: NC_000023.11:41464695:TTTT:TT
Gene:: NYX (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.41464698_41464699del, NC_000023.10:g.41323951_41323952del, NG_009112.1:g.22239_22240del

Select item 14915541972.

rs1491554197 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTTA [Show Flanks]
Chromosome:: X:41459191 (GRCh38)
X:41318445 (GRCh37)
Canonical SPDI:: NC_000023.11:41459191:TATGTTA:TATGTTATGTTA
Gene:: NYX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATGTTATGTTA=0./0 (ALFA)
TATGT=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.41459194_41459198dup, NC_000023.10:g.41318447_41318451dup, NG_009112.1:g.16735_16739dup

Select item 14914928283.

rs1491492828 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: X:41471834 (GRCh38)
X:41331088 (GRCh37)
Canonical SPDI:: NC_000023.11:41471834::A
Gene:: NYX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000132/35 (TOPMED)
A=0.000587/10 (GnomAD)
HGVS:: NC_000023.11:g.41471834_41471835insA, NC_000023.10:g.41331087_41331088insA, NG_009112.1:g.29375_29376insA

Select item 14914600614.

rs1491460061 has merged into rs61276668 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: X:41471842 (GRCh38)
X:41331095 (GRCh37)
Canonical SPDI:: NC_000023.11:41471833:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000023.11:41471833:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:41471833:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:41471833:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:41471833:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:41471833:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:41471833:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:41471833:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: NYX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.0014/13 (ALFA)
TTTT=0.4371/1650 (1000Genomes)
HGVS:: NC_000023.11:g.41471842_41471848del, NC_000023.11:g.41471843_41471848del, NC_000023.11:g.41471844_41471848del, NC_000023.11:g.41471845_41471848del, NC_000023.11:g.41471846_41471848del, NC_000023.11:g.41471847_41471848del, NC_000023.11:g.41471848del, NC_000023.11:g.41471848dup, NC_000023.10:g.41331095_41331101del, NC_000023.10:g.41331096_41331101del, NC_000023.10:g.41331097_41331101del, NC_000023.10:g.41331098_41331101del, NC_000023.10:g.41331099_41331101del, NC_000023.10:g.41331100_41331101del, NC_000023.10:g.41331101del, NC_000023.10:g.41331101dup, NG_009112.1:g.29383_29389del, NG_009112.1:g.29384_29389del, NG_009112.1:g.29385_29389del, NG_009112.1:g.29386_29389del, NG_009112.1:g.29387_29389del, NG_009112.1:g.29388_29389del, NG_009112.1:g.29389del, NG_009112.1:g.29389dup

Select item 14913924645.

rs1491392464 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA [Show Flanks]
Chromosome:: X:41450829 (GRCh38)
X:41310083 (GRCh37)
Canonical SPDI:: NC_000023.11:41450829::A,NC_000023.11:41450829::ATA,NC_000023.11:41450829::ATATA,NC_000023.11:41450829::ATATATA,NC_000023.11:41450829::ATATATATA,NC_000023.11:41450829::ATATATATATA,NC_000023.11:41450829::ATATATATATATA,NC_000023.11:41450829::ATATATATATATATA,NC_000023.11:41450829::ATATATATATATATATA
Gene:: NYX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000023.11:g.41450829_41450830insA, NC_000023.11:g.41450829_41450830insATA, NC_000023.11:g.41450829_41450830insATATA, NC_000023.11:g.41450829_41450830insATATATA, NC_000023.11:g.41450829_41450830insATATATATA, NC_000023.11:g.41450829_41450830insATATATATATA, NC_000023.11:g.41450829_41450830insATATATATATATA, NC_000023.11:g.41450829_41450830insATATATATATATATA, NC_000023.11:g.41450829_41450830insATATATATATATATATA, NC_000023.10:g.41310082_41310083insA, NC_000023.10:g.41310082_41310083insATA, NC_000023.10:g.41310082_41310083insATATA, NC_000023.10:g.41310082_41310083insATATATA, NC_000023.10:g.41310082_41310083insATATATATA, NC_000023.10:g.41310082_41310083insATATATATATA, NC_000023.10:g.41310082_41310083insATATATATATATA, NC_000023.10:g.41310082_41310083insATATATATATATATA, NC_000023.10:g.41310082_41310083insATATATATATATATATA, NG_009112.1:g.8370_8371insA, NG_009112.1:g.8370_8371insATA, NG_009112.1:g.8370_8371insATATA, NG_009112.1:g.8370_8371insATATATA, NG_009112.1:g.8370_8371insATATATATA, NG_009112.1:g.8370_8371insATATATATATA, NG_009112.1:g.8370_8371insATATATATATATA, NG_009112.1:g.8370_8371insATATATATATATATA, NG_009112.1:g.8370_8371insATATATATATATATATA

Select item 14913265076.

rs1491326507 has merged into rs59383905 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:41460887 (GRCh38)
X:41320140 (GRCh37)
Canonical SPDI:: NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41460876:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NYX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000087/23 (TOPMED)
HGVS:: NC_000023.11:g.41460887_41460906del, NC_000023.11:g.41460888_41460906del, NC_000023.11:g.41460889_41460906del, NC_000023.11:g.41460890_41460906del, NC_000023.11:g.41460891_41460906del, NC_000023.11:g.41460892_41460906del, NC_000023.11:g.41460893_41460906del, NC_000023.11:g.41460894_41460906del, NC_000023.11:g.41460895_41460906del, NC_000023.11:g.41460896_41460906del, NC_000023.11:g.41460897_41460906del, NC_000023.11:g.41460898_41460906del, NC_000023.11:g.41460899_41460906del, NC_000023.11:g.41460900_41460906del, NC_000023.11:g.41460901_41460906del, NC_000023.11:g.41460902_41460906del, NC_000023.11:g.41460903_41460906del, NC_000023.11:g.41460904_41460906del, NC_000023.11:g.41460905_41460906del, NC_000023.11:g.41460906del, NC_000023.11:g.41460906dup, NC_000023.11:g.41460905_41460906dup, NC_000023.11:g.41460904_41460906dup, NC_000023.11:g.41460903_41460906dup, NC_000023.11:g.41460902_41460906dup, NC_000023.11:g.41460901_41460906dup, NC_000023.11:g.41460900_41460906dup, NC_000023.11:g.41460899_41460906dup, NC_000023.11:g.41460898_41460906dup, NC_000023.11:g.41460897_41460906dup, NC_000023.11:g.41460896_41460906dup, NC_000023.11:g.41460895_41460906dup, NC_000023.11:g.41460894_41460906dup, NC_000023.11:g.41460893_41460906dup, NC_000023.11:g.41460892_41460906dup, NC_000023.11:g.41460891_41460906dup, NC_000023.11:g.41460890_41460906dup, NC_000023.11:g.41460889_41460906dup, NC_000023.11:g.41460888_41460906dup, NC_000023.11:g.41460887_41460906dup, NC_000023.11:g.41460884_41460906dup, NC_000023.11:g.41460906_41460907insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.41460906_41460907insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.41320140_41320159del, NC_000023.10:g.41320141_41320159del, NC_000023.10:g.41320142_41320159del, NC_000023.10:g.41320143_41320159del, NC_000023.10:g.41320144_41320159del, NC_000023.10:g.41320145_41320159del, NC_000023.10:g.41320146_41320159del, NC_000023.10:g.41320147_41320159del, NC_000023.10:g.41320148_41320159del, NC_000023.10:g.41320149_41320159del, NC_000023.10:g.41320150_41320159del, NC_000023.10:g.41320151_41320159del, NC_000023.10:g.41320152_41320159del, NC_000023.10:g.41320153_41320159del, NC_000023.10:g.41320154_41320159del, NC_000023.10:g.41320155_41320159del, NC_000023.10:g.41320156_41320159del, NC_000023.10:g.41320157_41320159del, NC_000023.10:g.41320158_41320159del, NC_000023.10:g.41320159del, NC_000023.10:g.41320159dup, NC_000023.10:g.41320158_41320159dup, NC_000023.10:g.41320157_41320159dup, NC_000023.10:g.41320156_41320159dup, NC_000023.10:g.41320155_41320159dup, NC_000023.10:g.41320154_41320159dup, NC_000023.10:g.41320153_41320159dup, NC_000023.10:g.41320152_41320159dup, NC_000023.10:g.41320151_41320159dup, NC_000023.10:g.41320150_41320159dup, NC_000023.10:g.41320149_41320159dup, NC_000023.10:g.41320148_41320159dup, NC_000023.10:g.41320147_41320159dup, NC_000023.10:g.41320146_41320159dup, NC_000023.10:g.41320145_41320159dup, NC_000023.10:g.41320144_41320159dup, NC_000023.10:g.41320143_41320159dup, NC_000023.10:g.41320142_41320159dup, NC_000023.10:g.41320141_41320159dup, NC_000023.10:g.41320140_41320159dup, NC_000023.10:g.41320137_41320159dup, NC_000023.10:g.41320159_41320160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.41320159_41320160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009112.1:g.18428_18447del, NG_009112.1:g.18429_18447del, NG_009112.1:g.18430_18447del, NG_009112.1:g.18431_18447del, NG_009112.1:g.18432_18447del, NG_009112.1:g.18433_18447del, NG_009112.1:g.18434_18447del, NG_009112.1:g.18435_18447del, NG_009112.1:g.18436_18447del, NG_009112.1:g.18437_18447del, NG_009112.1:g.18438_18447del, NG_009112.1:g.18439_18447del, NG_009112.1:g.18440_18447del, NG_009112.1:g.18441_18447del, NG_009112.1:g.18442_18447del, NG_009112.1:g.18443_18447del, NG_009112.1:g.18444_18447del, NG_009112.1:g.18445_18447del, NG_009112.1:g.18446_18447del, NG_009112.1:g.18447del, NG_009112.1:g.18447dup, NG_009112.1:g.18446_18447dup, NG_009112.1:g.18445_18447dup, NG_009112.1:g.18444_18447dup, NG_009112.1:g.18443_18447dup, NG_009112.1:g.18442_18447dup, NG_009112.1:g.18441_18447dup, NG_009112.1:g.18440_18447dup, NG_009112.1:g.18439_18447dup, NG_009112.1:g.18438_18447dup, NG_009112.1:g.18437_18447dup, NG_009112.1:g.18436_18447dup, NG_009112.1:g.18435_18447dup, NG_009112.1:g.18434_18447dup, NG_009112.1:g.18433_18447dup, NG_009112.1:g.18432_18447dup, NG_009112.1:g.18431_18447dup, NG_009112.1:g.18430_18447dup, NG_009112.1:g.18429_18447dup, NG_009112.1:g.18428_18447dup, NG_009112.1:g.18425_18447dup, NG_009112.1:g.18447_18448insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009112.1:g.18447_18448insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912346687.

rs1491234668 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: X:41453460 (GRCh38)
X:41312714 (GRCh37)
Canonical SPDI:: NC_000023.11:41453460:T:TCT
Gene:: NYX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
TC=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.41453461_41453462insCT, NC_000023.10:g.41312714_41312715insCT, NG_009112.1:g.11002_11003insCT

Select item 14911298848.

rs1491129884 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: X:41459193 (GRCh38)
X:41318446 (GRCh37)
Canonical SPDI:: NC_000023.11:41459190:ATAT:AT
Gene:: NYX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.41459191AT[1], NC_000023.10:g.41318444AT[1], NG_009112.1:g.16732AT[1]

Select item 14911121389.

rs1491112138 has merged into rs745395959 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:41450841 (GRCh38)
X:41310094 (GRCh37)
Canonical SPDI:: NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41450828:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NYX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTT=0.175/7 (GENOME_DK)
TTTTTTTT=0.2109/796 (1000Genomes)
HGVS:: NC_000023.11:g.41450841_41450855del, NC_000023.11:g.41450842_41450855del, NC_000023.11:g.41450843_41450855del, NC_000023.11:g.41450844_41450855del, NC_000023.11:g.41450845_41450855del, NC_000023.11:g.41450846_41450855del, NC_000023.11:g.41450847_41450855del, NC_000023.11:g.41450848_41450855del, NC_000023.11:g.41450849_41450855del, NC_000023.11:g.41450850_41450855del, NC_000023.11:g.41450851_41450855del, NC_000023.11:g.41450852_41450855del, NC_000023.11:g.41450853_41450855del, NC_000023.11:g.41450854_41450855del, NC_000023.11:g.41450855del, NC_000023.11:g.41450855dup, NC_000023.11:g.41450854_41450855dup, NC_000023.11:g.41450853_41450855dup, NC_000023.11:g.41450852_41450855dup, NC_000023.11:g.41450847_41450855dup, NC_000023.10:g.41310094_41310108del, NC_000023.10:g.41310095_41310108del, NC_000023.10:g.41310096_41310108del, NC_000023.10:g.41310097_41310108del, NC_000023.10:g.41310098_41310108del, NC_000023.10:g.41310099_41310108del, NC_000023.10:g.41310100_41310108del, NC_000023.10:g.41310101_41310108del, NC_000023.10:g.41310102_41310108del, NC_000023.10:g.41310103_41310108del, NC_000023.10:g.41310104_41310108del, NC_000023.10:g.41310105_41310108del, NC_000023.10:g.41310106_41310108del, NC_000023.10:g.41310107_41310108del, NC_000023.10:g.41310108del, NC_000023.10:g.41310108dup, NC_000023.10:g.41310107_41310108dup, NC_000023.10:g.41310106_41310108dup, NC_000023.10:g.41310105_41310108dup, NC_000023.10:g.41310100_41310108dup, NG_009112.1:g.8382_8396del, NG_009112.1:g.8383_8396del, NG_009112.1:g.8384_8396del, NG_009112.1:g.8385_8396del, NG_009112.1:g.8386_8396del, NG_009112.1:g.8387_8396del, NG_009112.1:g.8388_8396del, NG_009112.1:g.8389_8396del, NG_009112.1:g.8390_8396del, NG_009112.1:g.8391_8396del, NG_009112.1:g.8392_8396del, NG_009112.1:g.8393_8396del, NG_009112.1:g.8394_8396del, NG_009112.1:g.8395_8396del, NG_009112.1:g.8396del, NG_009112.1:g.8396dup, NG_009112.1:g.8395_8396dup, NG_009112.1:g.8394_8396dup, NG_009112.1:g.8393_8396dup, NG_009112.1:g.8388_8396dup

Select item 149108695310.

rs1491086953 has merged into rs5902281 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:41469559 (GRCh38)
X:41328812 (GRCh37)
Canonical SPDI:: NC_000023.11:41469547:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:41469547:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:41469547:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:41469547:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:41469547:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:41469547:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:41469547:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:41469547:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NYX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0515/191 (TWINSUK)
-=0.0519/150 (ALSPAC)
T=0.375/3 (KOREAN)
T=0.3989/1506 (1000Genomes)
HGVS:: NC_000023.11:g.41469559_41469564del, NC_000023.11:g.41469562_41469564del, NC_000023.11:g.41469563_41469564del, NC_000023.11:g.41469564del, NC_000023.11:g.41469564dup, NC_000023.11:g.41469563_41469564dup, NC_000023.11:g.41469562_41469564dup, NC_000023.11:g.41469558_41469564dup, NC_000023.10:g.41328812_41328817del, NC_000023.10:g.41328815_41328817del, NC_000023.10:g.41328816_41328817del, NC_000023.10:g.41328817del, NC_000023.10:g.41328817dup, NC_000023.10:g.41328816_41328817dup, NC_000023.10:g.41328815_41328817dup, NC_000023.10:g.41328811_41328817dup, NG_009112.1:g.27100_27105del, NG_009112.1:g.27103_27105del, NG_009112.1:g.27104_27105del, NG_009112.1:g.27105del, NG_009112.1:g.27105dup, NG_009112.1:g.27104_27105dup, NG_009112.1:g.27103_27105dup, NG_009112.1:g.27099_27105dup

Select item 149103735911.

rs1491037359 has merged into rs547264491 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:41459877 (GRCh38)
X:41319130 (GRCh37)
Canonical SPDI:: NC_000023.11:41459864:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:41459864:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:41459864:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:41459864:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:41459864:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:41459864:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:41459864:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41459864:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:41459864:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NYX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.35/14 (GENOME_DK)
HGVS:: NC_000023.11:g.41459877_41459879del, NC_000023.11:g.41459878_41459879del, NC_000023.11:g.41459879del, NC_000023.11:g.41459879dup, NC_000023.11:g.41459878_41459879dup, NC_000023.11:g.41459877_41459879dup, NC_000023.11:g.41459874_41459879dup, NC_000023.11:g.41459869_41459879dup, NC_000023.11:g.41459879_41459880insTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.41319130_41319132del, NC_000023.10:g.41319131_41319132del, NC_000023.10:g.41319132del, NC_000023.10:g.41319132dup, NC_000023.10:g.41319131_41319132dup, NC_000023.10:g.41319130_41319132dup, NC_000023.10:g.41319127_41319132dup, NC_000023.10:g.41319122_41319132dup, NC_000023.10:g.41319132_41319133insTTTTTTTTTTTTTTTTTTT, NG_009112.1:g.17418_17420del, NG_009112.1:g.17419_17420del, NG_009112.1:g.17420del, NG_009112.1:g.17420dup, NG_009112.1:g.17419_17420dup, NG_009112.1:g.17418_17420dup, NG_009112.1:g.17415_17420dup, NG_009112.1:g.17410_17420dup, NG_009112.1:g.17420_17421insTTTTTTTTTTTTTTTTTTT

Select item 149098742412.

rs1490987424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:41454133 (GRCh38)
X:41313386 (GRCh37)
Canonical SPDI:: NC_000023.11:41454132:T:C
Gene:: NYX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000416/2 (1000Genomes)
HGVS:: NC_000023.11:g.41454133T>C, NC_000023.10:g.41313386T>C, NG_009112.1:g.11674T>C

Select item 149094681813.

rs1490946818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:41473945 (GRCh38)
X:41333198 (GRCh37)
Canonical SPDI:: NC_000023.11:41473944:C:A
Gene:: NYX (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000023.11:g.41473945C>A, NC_000023.10:g.41333198C>A, NG_009112.1:g.31486C>A, NM_022567.3:c.477C>A, NM_022567.2:c.492C>A, NM_001378477.3:c.477C>A, NM_001378477.2:c.492C>A, NM_001378477.1:c.492C>A

Select item 149087689714.

rs1490876897 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:41476256 (GRCh38)
X:41335509 (GRCh37)
Canonical SPDI:: NC_000023.11:41476255:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.41476256T>C, NC_000023.10:g.41335509T>C, NG_009112.1:g.33797T>C

Select item 149058842115.

rs1490588421 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:41459834 (GRCh38)
X:41319087 (GRCh37)
Canonical SPDI:: NC_000023.11:41459833:A:G
Gene:: NYX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.41459834A>G, NC_000023.10:g.41319087A>G, NG_009112.1:g.17375A>G

Select item 149034852416.

rs1490348524 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:41465492 (GRCh38)
X:41324745 (GRCh37)
Canonical SPDI:: NC_000023.11:41465491:G:A
Gene:: NYX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.41465492G>A, NC_000023.10:g.41324745G>A, NG_009112.1:g.23033G>A

Select item 149026428617.

rs1490264286 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:41474868 (GRCh38)
X:41334121 (GRCh37)
Canonical SPDI:: NC_000023.11:41474867:A:G
Gene:: NYX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.41474868A>G, NC_000023.10:g.41334121A>G, NG_009112.1:g.32409A>G, NM_022567.3:c.1400A>G, NM_022567.2:c.1415A>G, NM_001378477.3:c.1400A>G, NM_001378477.2:c.1415A>G, NM_001378477.1:c.1415A>G, NP_072089.2:p.Gln467Arg, NP_001365406.2:p.Gln467Arg

Select item 149006142318.

rs1490061423 has merged into rs201620180 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: X:41475631 (GRCh38)
X:41334884 (GRCh37)
Canonical SPDI:: NC_000023.11:41475621:AAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:41475621:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:41475621:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:41475621:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:41475621:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: NYX (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000023.11:g.41475631_41475634del, NC_000023.11:g.41475633_41475634del, NC_000023.11:g.41475634del, NC_000023.11:g.41475634dup, NC_000023.11:g.41475633_41475634dup, NC_000023.10:g.41334884_41334887del, NC_000023.10:g.41334886_41334887del, NC_000023.10:g.41334887del, NC_000023.10:g.41334887dup, NC_000023.10:g.41334886_41334887dup, NG_009112.1:g.33172_33175del, NG_009112.1:g.33174_33175del, NG_009112.1:g.33175del, NG_009112.1:g.33175dup, NG_009112.1:g.33174_33175dup, NM_022567.3:c.*732_*735del, NM_022567.3:c.*734_*735del, NM_022567.3:c.*735del, NM_022567.3:c.*735dup, NM_022567.3:c.*734_*735dup, NM_022567.2:c.*732_*735del, NM_022567.2:c.*734_*735del, NM_022567.2:c.*735del, NM_022567.2:c.*735dup, NM_022567.2:c.*734_*735dup, NM_001378477.3:c.*732_*735del, NM_001378477.3:c.*734_*735del, NM_001378477.3:c.*735del, NM_001378477.3:c.*735dup, NM_001378477.3:c.*734_*735dup, NM_001378477.2:c.*732_*735del, NM_001378477.2:c.*734_*735del, NM_001378477.2:c.*735del, NM_001378477.2:c.*735dup, NM_001378477.2:c.*734_*735dup, NM_001378477.1:c.*732_*735del, NM_001378477.1:c.*734_*735del, NM_001378477.1:c.*735del, NM_001378477.1:c.*735dup, NM_001378477.1:c.*734_*735dup

Select item 149003748919.

rs1490037489 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:41454858 (GRCh38)
X:41314111 (GRCh37)
Canonical SPDI:: NC_000023.11:41454857:T:C
Gene:: NYX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000285/4 (ALFA)
C=0.00002/2 (GnomAD)
C=0.000057/15 (TOPMED)
HGVS:: NC_000023.11:g.41454858T>C, NC_000023.10:g.41314111T>C, NG_009112.1:g.12399T>C

Select item 149003569320.

rs1490035693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:41474271 (GRCh38)
X:41333524 (GRCh37)
Canonical SPDI:: NC_000023.11:41474270:G:C
Gene:: NYX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000009/1 (GnomAD)
HGVS:: NC_000023.11:g.41474271G>C, NC_000023.10:g.41333524G>C, NG_009112.1:g.31812G>C, NM_022567.3:c.803G>C, NM_022567.2:c.818G>C, NM_001378477.3:c.803G>C, NM_001378477.2:c.818G>C, NM_001378477.1:c.818G>C, NP_072089.2:p.Trp268Ser, NP_001365406.2:p.Trp268Ser

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