SNP Links for Gene (Select 2547) - SNP

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Select item 14915717221.

rs1491571722 has merged into rs1328369585 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 22:41657491 (GRCh38)
22:42053495 (GRCh37)
Canonical SPDI:: NC_000022.11:41657489:TTT:T,NC_000022.11:41657489:TTT:TT
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000029/3 (GnomAD)
HGVS:: NC_000022.11:g.41657491_41657492del, NC_000022.11:g.41657492del, NC_000022.10:g.42053495_42053496del, NC_000022.10:g.42053496del

Select item 14915374732.

rs1491537473 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATTA,ATTATTA [Show Flanks]
Chromosome:: 22:41657490 (GRCh38)
22:42053495 (GRCh37)
Canonical SPDI:: NC_000022.11:41657490::A,NC_000022.11:41657490::ATTA,NC_000022.11:41657490::ATTATTA
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTA=0./0 (ALFA)
HGVS:: NC_000022.11:g.41657490_41657491insA, NC_000022.11:g.41657490_41657491insATTA, NC_000022.11:g.41657490_41657491insATTATTA, NC_000022.10:g.42053494_42053495insA, NC_000022.10:g.42053494_42053495insATTA, NC_000022.10:g.42053494_42053495insATTATTA

Select item 14914000053.

rs1491400005 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 22:41632125 (GRCh38)
22:42028129 (GRCh37)
Canonical SPDI:: NC_000022.11:41632120:AGAGAG:AGAG
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000064/17 (TOPMED)
HGVS:: NC_000022.11:g.41632121AG[2], NC_000022.10:g.42028125AG[2]

Select item 14913615134.

rs1491361513 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAG,GGAGACCGTGGAAGGAG,GGAGAGGGAGACCGTGGAAGGAG,GGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGAAGGAG [Show Flanks]
Chromosome:: 22:41632121 (GRCh38)
22:42028126 (GRCh37)
Canonical SPDI:: NC_000022.11:41632121:GAG:GAGGGAG,NC_000022.11:41632121:GAG:GAGGGAGACCGTGGAAGGAG,NC_000022.11:41632121:GAG:GAGGGAGAGGGAGACCGTGGAAGGAG,NC_000022.11:41632121:GAG:GAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGAAGGAG
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: GAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGAAG=0.00046/8 (TOMMO)
GAGG=0.00055/1 (Korea1K)
GAGGGAGAGGGAGACCGTGGAAG=0.00333/2 (NorthernSweden)
HGVS:: NC_000022.11:g.41632124_41632125insGGAG, NC_000022.11:g.41632124_41632125insGGAGACCGTGGAAGGAG, NC_000022.11:g.41632122_41632124GAGGGA[2]GACCGTGGAAGGAG[1], NC_000022.11:g.41632122_41632124GAGGGA[2]GACCGTGGGGAGAGGGAGACCGTGGAAGGAG[1], NC_000022.10:g.42028128_42028129insGGAG, NC_000022.10:g.42028128_42028129insGGAGACCGTGGAAGGAG, NC_000022.10:g.42028126_42028128GAGGGA[2]GACCGTGGAAGGAG[1], NC_000022.10:g.42028126_42028128GAGGGA[2]GACCGTGGGGAGAGGGAGACCGTGGAAGGAG[1]

Select item 14913167985.

rs1491316798 has merged into rs1335320703 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:41649136 (GRCh38)
22:42045140 (GRCh37)
Canonical SPDI:: NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41649126:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.41649136_41649140del, NC_000022.11:g.41649137_41649140del, NC_000022.11:g.41649138_41649140del, NC_000022.11:g.41649139_41649140del, NC_000022.11:g.41649140del, NC_000022.11:g.41649140dup, NC_000022.11:g.41649139_41649140dup, NC_000022.11:g.41649138_41649140dup, NC_000022.11:g.41649137_41649140dup, NC_000022.11:g.41649136_41649140dup, NC_000022.11:g.41649135_41649140dup, NC_000022.11:g.41649134_41649140dup, NC_000022.11:g.41649133_41649140dup, NC_000022.11:g.41649132_41649140dup, NC_000022.11:g.41649131_41649140dup, NC_000022.11:g.41649129_41649140dup, NC_000022.10:g.42045140_42045144del, NC_000022.10:g.42045141_42045144del, NC_000022.10:g.42045142_42045144del, NC_000022.10:g.42045143_42045144del, NC_000022.10:g.42045144del, NC_000022.10:g.42045144dup, NC_000022.10:g.42045143_42045144dup, NC_000022.10:g.42045142_42045144dup, NC_000022.10:g.42045141_42045144dup, NC_000022.10:g.42045140_42045144dup, NC_000022.10:g.42045139_42045144dup, NC_000022.10:g.42045138_42045144dup, NC_000022.10:g.42045137_42045144dup, NC_000022.10:g.42045136_42045144dup, NC_000022.10:g.42045135_42045144dup, NC_000022.10:g.42045133_42045144dup

Select item 14913012106.

rs1491301210 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 22:41649851 (GRCh38)
22:42045855 (GRCh37)
Canonical SPDI:: NC_000022.11:41649850:AA:A,NC_000022.11:41649850:AA:AAA
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.001491/35 (GnomAD)
HGVS:: NC_000022.11:g.41649852del, NC_000022.11:g.41649852dup, NC_000022.10:g.42045856del, NC_000022.10:g.42045856dup

Select item 14912816707.

rs1491281670 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:41638776 (GRCh38)
22:42034780 (GRCh37)
Canonical SPDI:: NC_000022.11:41638775:CA:
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.41638776_41638777del, NC_000022.10:g.42034780_42034781del

Select item 14912310708.

rs1491231070 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:41650922 (GRCh38)
22:42046927 (GRCh37)
Canonical SPDI:: NC_000022.11:41650922:T:TT
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000177/3 (TOMMO)
HGVS:: NC_000022.11:g.41650923dup, NC_000022.10:g.42046927dup

Select item 14910937409.

rs1491093740 has merged into rs386395480 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:41639337 (GRCh38)
22:42035341 (GRCh37)
Canonical SPDI:: NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41639329:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000022.11:g.41639337_41639354del, NC_000022.11:g.41639339_41639354del, NC_000022.11:g.41639340_41639354del, NC_000022.11:g.41639341_41639354del, NC_000022.11:g.41639342_41639354del, NC_000022.11:g.41639343_41639354del, NC_000022.11:g.41639344_41639354del, NC_000022.11:g.41639345_41639354del, NC_000022.11:g.41639346_41639354del, NC_000022.11:g.41639347_41639354del, NC_000022.11:g.41639348_41639354del, NC_000022.11:g.41639349_41639354del, NC_000022.11:g.41639350_41639354del, NC_000022.11:g.41639351_41639354del, NC_000022.11:g.41639352_41639354del, NC_000022.11:g.41639353_41639354del, NC_000022.11:g.41639354del, NC_000022.11:g.41639354dup, NC_000022.11:g.41639353_41639354dup, NC_000022.11:g.41639352_41639354dup, NC_000022.11:g.41639351_41639354dup, NC_000022.11:g.41639350_41639354dup, NC_000022.11:g.41639349_41639354dup, NC_000022.11:g.41639348_41639354dup, NC_000022.11:g.41639347_41639354dup, NC_000022.11:g.41639346_41639354dup, NC_000022.11:g.41639345_41639354dup, NC_000022.11:g.41639344_41639354dup, NC_000022.11:g.41639343_41639354dup, NC_000022.11:g.41639342_41639354dup, NC_000022.11:g.41639340_41639354dup, NC_000022.11:g.41639339_41639354dup, NC_000022.11:g.41639338_41639354dup, NC_000022.11:g.41639337_41639354dup, NC_000022.11:g.41639336_41639354dup, NC_000022.11:g.41639335_41639354dup, NC_000022.11:g.41639334_41639354dup, NC_000022.11:g.41639333_41639354dup, NC_000022.11:g.41639332_41639354dup, NC_000022.11:g.41639354_41639355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.42035341_42035358del, NC_000022.10:g.42035343_42035358del, NC_000022.10:g.42035344_42035358del, NC_000022.10:g.42035345_42035358del, NC_000022.10:g.42035346_42035358del, NC_000022.10:g.42035347_42035358del, NC_000022.10:g.42035348_42035358del, NC_000022.10:g.42035349_42035358del, NC_000022.10:g.42035350_42035358del, NC_000022.10:g.42035351_42035358del, NC_000022.10:g.42035352_42035358del, NC_000022.10:g.42035353_42035358del, NC_000022.10:g.42035354_42035358del, NC_000022.10:g.42035355_42035358del, NC_000022.10:g.42035356_42035358del, NC_000022.10:g.42035357_42035358del, NC_000022.10:g.42035358del, NC_000022.10:g.42035358dup, NC_000022.10:g.42035357_42035358dup, NC_000022.10:g.42035356_42035358dup, NC_000022.10:g.42035355_42035358dup, NC_000022.10:g.42035354_42035358dup, NC_000022.10:g.42035353_42035358dup, NC_000022.10:g.42035352_42035358dup, NC_000022.10:g.42035351_42035358dup, NC_000022.10:g.42035350_42035358dup, NC_000022.10:g.42035349_42035358dup, NC_000022.10:g.42035348_42035358dup, NC_000022.10:g.42035347_42035358dup, NC_000022.10:g.42035346_42035358dup, NC_000022.10:g.42035344_42035358dup, NC_000022.10:g.42035343_42035358dup, NC_000022.10:g.42035342_42035358dup, NC_000022.10:g.42035341_42035358dup, NC_000022.10:g.42035340_42035358dup, NC_000022.10:g.42035339_42035358dup, NC_000022.10:g.42035338_42035358dup, NC_000022.10:g.42035337_42035358dup, NC_000022.10:g.42035336_42035358dup, NC_000022.10:g.42035358_42035359insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149107855810.

rs1491078558 has merged into rs11413169 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:41628976 (GRCh38)
22:42024980 (GRCh37)
Canonical SPDI:: NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41628965:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000034/9 (TOPMED)
HGVS:: NC_000022.11:g.41628976_41628989del, NC_000022.11:g.41628978_41628989del, NC_000022.11:g.41628979_41628989del, NC_000022.11:g.41628980_41628989del, NC_000022.11:g.41628981_41628989del, NC_000022.11:g.41628982_41628989del, NC_000022.11:g.41628983_41628989del, NC_000022.11:g.41628984_41628989del, NC_000022.11:g.41628985_41628989del, NC_000022.11:g.41628986_41628989del, NC_000022.11:g.41628987_41628989del, NC_000022.11:g.41628988_41628989del, NC_000022.11:g.41628989del, NC_000022.11:g.41628989dup, NC_000022.11:g.41628988_41628989dup, NC_000022.11:g.41628987_41628989dup, NC_000022.11:g.41628986_41628989dup, NC_000022.11:g.41628985_41628989dup, NC_000022.11:g.41628984_41628989dup, NC_000022.11:g.41628983_41628989dup, NC_000022.11:g.41628982_41628989dup, NC_000022.11:g.41628981_41628989dup, NC_000022.11:g.41628974_41628989dup, NC_000022.11:g.41628967_41628989dup, NC_000022.11:g.41628989_41628990insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.42024980_42024993del, NC_000022.10:g.42024982_42024993del, NC_000022.10:g.42024983_42024993del, NC_000022.10:g.42024984_42024993del, NC_000022.10:g.42024985_42024993del, NC_000022.10:g.42024986_42024993del, NC_000022.10:g.42024987_42024993del, NC_000022.10:g.42024988_42024993del, NC_000022.10:g.42024989_42024993del, NC_000022.10:g.42024990_42024993del, NC_000022.10:g.42024991_42024993del, NC_000022.10:g.42024992_42024993del, NC_000022.10:g.42024993del, NC_000022.10:g.42024993dup, NC_000022.10:g.42024992_42024993dup, NC_000022.10:g.42024991_42024993dup, NC_000022.10:g.42024990_42024993dup, NC_000022.10:g.42024989_42024993dup, NC_000022.10:g.42024988_42024993dup, NC_000022.10:g.42024987_42024993dup, NC_000022.10:g.42024986_42024993dup, NC_000022.10:g.42024985_42024993dup, NC_000022.10:g.42024978_42024993dup, NC_000022.10:g.42024971_42024993dup, NC_000022.10:g.42024993_42024994insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149107081611.

rs1491070816 has merged into rs755487589 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 22:41649848 (GRCh38)
22:42045852 (GRCh37)
Canonical SPDI:: NC_000022.11:41649838:AAAAAAAAAAA:AAAAAAAAA,NC_000022.11:41649838:AAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:41649838:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:41649838:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:41649838:AAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.019128/5063 (TOPMED)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000022.11:g.41649848_41649849del, NC_000022.11:g.41649849del, NC_000022.11:g.41649849dup, NC_000022.11:g.41649848_41649849dup, NC_000022.11:g.41649846_41649849dup, NC_000022.10:g.42045852_42045853del, NC_000022.10:g.42045853del, NC_000022.10:g.42045853dup, NC_000022.10:g.42045852_42045853dup, NC_000022.10:g.42045850_42045853dup

Select item 149106471812.

rs1491064718 has merged into rs753091471 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 22:41649850 (GRCh38)
22:42045854 (GRCh37)
Canonical SPDI:: NC_000022.11:41649848:ATA:A
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00076/9 (ALFA)
-=0.00085/14 (TOMMO)
-=0.0017/152 (GnomAD)
HGVS:: NC_000022.11:g.41649850_41649851del, NC_000022.10:g.42045854_42045855del

Select item 149105399813.

rs1491053998 has merged into rs132783 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:41656225 (GRCh38)
22:42052229 (GRCh37)
Canonical SPDI:: NC_000022.11:41656215:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:41656215:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:41656215:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:41656215:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:41656215:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:41656215:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:41656215:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:41656215:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:41656215:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:41656215:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41656215:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.378/1893 (1000Genomes)
HGVS:: NC_000022.11:g.41656225_41656232del, NC_000022.11:g.41656227_41656232del, NC_000022.11:g.41656229_41656232del, NC_000022.11:g.41656230_41656232del, NC_000022.11:g.41656231_41656232del, NC_000022.11:g.41656232del, NC_000022.11:g.41656232dup, NC_000022.11:g.41656231_41656232dup, NC_000022.11:g.41656230_41656232dup, NC_000022.11:g.41656229_41656232dup, NC_000022.11:g.41656218_41656232dup, NC_000022.10:g.42052229_42052236del, NC_000022.10:g.42052231_42052236del, NC_000022.10:g.42052233_42052236del, NC_000022.10:g.42052234_42052236del, NC_000022.10:g.42052235_42052236del, NC_000022.10:g.42052236del, NC_000022.10:g.42052236dup, NC_000022.10:g.42052235_42052236dup, NC_000022.10:g.42052234_42052236dup, NC_000022.10:g.42052233_42052236dup, NC_000022.10:g.42052222_42052236dup

Select item 149101606814.

rs1491016068 has merged into rs71184821 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:41627620 (GRCh38)
22:42023624 (GRCh37)
Canonical SPDI:: NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41627609:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000022.11:g.41627620_41627630del, NC_000022.11:g.41627621_41627630del, NC_000022.11:g.41627624_41627630del, NC_000022.11:g.41627626_41627630del, NC_000022.11:g.41627627_41627630del, NC_000022.11:g.41627628_41627630del, NC_000022.11:g.41627629_41627630del, NC_000022.11:g.41627630del, NC_000022.11:g.41627630dup, NC_000022.11:g.41627629_41627630dup, NC_000022.11:g.41627628_41627630dup, NC_000022.11:g.41627627_41627630dup, NC_000022.11:g.41627626_41627630dup, NC_000022.11:g.41627625_41627630dup, NC_000022.11:g.41627624_41627630dup, NC_000022.11:g.41627623_41627630dup, NC_000022.11:g.41627622_41627630dup, NC_000022.10:g.42023624_42023634del, NC_000022.10:g.42023625_42023634del, NC_000022.10:g.42023628_42023634del, NC_000022.10:g.42023630_42023634del, NC_000022.10:g.42023631_42023634del, NC_000022.10:g.42023632_42023634del, NC_000022.10:g.42023633_42023634del, NC_000022.10:g.42023634del, NC_000022.10:g.42023634dup, NC_000022.10:g.42023633_42023634dup, NC_000022.10:g.42023632_42023634dup, NC_000022.10:g.42023631_42023634dup, NC_000022.10:g.42023630_42023634dup, NC_000022.10:g.42023629_42023634dup, NC_000022.10:g.42023628_42023634dup, NC_000022.10:g.42023627_42023634dup, NC_000022.10:g.42023626_42023634dup

Select item 149093144615.

rs1490931446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41663176 (GRCh38)
22:42059180 (GRCh37)
Canonical SPDI:: NC_000022.11:41663175:C:T
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.41663176C>T, NC_000022.10:g.42059180C>T

Select item 149085055416.

rs1490850554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:41660017 (GRCh38)
22:42056021 (GRCh37)
Canonical SPDI:: NC_000022.11:41660016:C:G
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41660017C>G, NC_000022.10:g.42056021C>G

Select item 149084717417.

rs1490847174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:41619895 (GRCh38)
22:42015899 (GRCh37)
Canonical SPDI:: NC_000022.11:41619894:G:T
Gene:: XRCC6 (Varview), DESI1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41619895G>T, NC_000022.10:g.42015899G>T

Select item 149081995718.

rs1490819957 has merged into rs28741132 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 22:41662164 (GRCh38)
22:42058168 (GRCh37)
Canonical SPDI:: NC_000022.11:41662161:AGAG:AG
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000071/1 (ALFA)
-=0.000053/14 (TOPMED)
-=0.000064/9 (GnomAD)
HGVS:: NC_000022.11:g.41662162AG[1], NC_000022.10:g.42058166AG[1]

Select item 149067269819.

rs1490672698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:41643281 (GRCh38)
22:42039285 (GRCh37)
Canonical SPDI:: NC_000022.11:41643280:C:A,NC_000022.11:41643280:C:T
Gene:: XRCC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.41643281C>A, NC_000022.11:g.41643281C>T, NC_000022.10:g.42039285C>A, NC_000022.10:g.42039285C>T

Select item 149063021720.

rs1490630217 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG [Show Flanks]
Chromosome:: 22:41621040 (GRCh38)
22:42017044 (GRCh37)
Canonical SPDI:: NC_000022.11:41621037:AGAGAG:AG,NC_000022.11:41621037:AGAGAG:AGAG
Gene:: XRCC6 (Varview), DESI1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41621038AG[1], NC_000022.11:g.41621038AG[2], NC_000022.10:g.42017042AG[1], NC_000022.10:g.42017042AG[2], NM_015704.3:c.-204CT[1], NM_015704.3:c.-204CT[2], NM_015704.2:c.-204CT[1], NM_015704.2:c.-204CT[2], XM_047441335.1:c.-418CT[1], XM_047441335.1:c.-418CT[2]

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