SNP Links for Gene (Select 10616) - SNP

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Select item 14915840421.

rs1491584042 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:431151 (GRCh38)
20:411796 (GRCh37)
Canonical SPDI:: NC_000020.11:431151:GGGG:GGGGG
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.431155dup, NC_000020.10:g.411799dup, NG_033233.1:g.28091dup, NM_006462.6:c.*725dup, NM_006462.5:c.*725dup, NM_031229.4:c.*725dup, NM_031229.3:c.*725dup, NR_136659.2:n.2692dup, NR_136659.1:n.2941dup, NM_001323956.2:c.*725dup, NM_001323956.1:c.*725dup, NM_001323958.2:c.*725dup, NM_001323958.1:c.*725dup, NM_001410770.1:c.*725dup, XM_011529137.3:c.*725dup, XM_005260645.3:c.*725dup, XM_011529138.2:c.*725dup

Select item 14915603382.

rs1491560338 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CCCC,CCTC [Show Flanks]
Chromosome:: 20:408007 (GRCh38)
20:388652 (GRCh37)
Canonical SPDI:: NC_000020.11:408007::C,NC_000020.11:408007::CCCC,NC_000020.11:408007::CCTC
Gene:: RBCK1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00051/6 (ALFA)
CCTC=0.00011/1 (GnomAD)
HGVS:: NC_000020.11:g.408007_408008insC, NC_000020.11:g.408007_408008insCCCC, NC_000020.11:g.408007_408008insCCTC, NC_000020.10:g.388651_388652insC, NC_000020.10:g.388651_388652insCCCC, NC_000020.10:g.388651_388652insCCTC, NG_033233.1:g.4943_4944insC, NG_033233.1:g.4943_4944insCCCC, NG_033233.1:g.4943_4944insCCTC

Select item 14915479933.

rs1491547993 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:426816 (GRCh38)
20:407460 (GRCh37)
Canonical SPDI:: NC_000020.11:426815:CT:
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000042/5 (GnomAD)
HGVS:: NC_000020.11:g.426816_426817del, NC_000020.10:g.407460_407461del, NG_033233.1:g.23752_23753del

Select item 14914920114.

rs1491492011 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CCC,CCCACCCC,CCCACCCCGCCTCGCGGCCCCCGGCCCC,CCCC,CCCCAGGCCCC,CCCCCCGGGGCC,CCCCCGCCCCC,CCCCCGCCCCCGGCCCC,CCCCCGCCCCGCCCCCGGCCCC,CCCCCGGCACC,CCCCCGGCCCC,CCCCCGGCCCCGCCCCCGGCCCC,CCCCCGGCCCCGCCCCCGGCCCCGCCCCCGGCCCC,CCCCCGGCCCCGCCCCCGGCCCCGCCCCCGGCCCCGCCCCCGGCCCC,CCCCCGGCCCCGCCCCGGCCCC,CCCCCGTCCCC,CCCCGC,CCCCGCCCC,CCCCGCCCCCC,CCCCGCCCCCCGCCCC,CCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCC,CCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCC,CCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCCGCCCCCCGGCCCCGCCCCGCCCCCCGGCCCCGCCCCCGGCCCC,CCCCGCCCCCCGGCCCCGCCCCCGGCCCC,CCCCGCCCCCGGCCCC,CCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCC,CCCCGCCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCC,CCCCGCCCCGCCCCCGGCCCC,CCCCGCCCCTCGGCCCC,CCCCGGCCCC,CCCCGGCCCCC,CCCCGGCCCCCGGCCCCGCCCCCGGCCCC,CCCCTCCCC,TCCCCGGCCCC [Show Flanks]
Chromosome:: 20:407965 (GRCh38)
20:388610 (GRCh37)
Canonical SPDI:: NC_000020.11:407965::C,NC_000020.11:407965::CCC,NC_000020.11:407965::CCCACCCC,NC_000020.11:407965::CCCACCCCGCCTCGCGGCCCCCGGCCCC,NC_000020.11:407965::CCCC,NC_000020.11:407965::CCCCAGGCCCC,NC_000020.11:407965::CCCCCCGGGGCC,NC_000020.11:407965::CCCCCGCCCCC,NC_000020.11:407965::CCCCCGCCCCCGGCCCC,NC_000020.11:407965::CCCCCGCCCCGCCCCCGGCCCC,NC_000020.11:407965::CCCCCGGCACC,NC_000020.11:407965::CCCCCGGCCCC,NC_000020.11:407965::CCCCCGGCCCCGCCCCCGGCCCC,NC_000020.11:407965::CCCCCGGCCCCGCCCCCGGCCCCGCCCCCGGCCCC,NC_000020.11:407965::CCCCCGGCCCCGCCCCCGGCCCCGCCCCCGGCCCCGCCCCCGGCCCC,NC_000020.11:407965::CCCCCGGCCCCGCCCCGGCCCC,NC_000020.11:407965::CCCCCGTCCCC,NC_000020.11:407965::CCCCGC,NC_000020.11:407965::CCCCGCCCC,NC_000020.11:407965::CCCCGCCCCCC,NC_000020.11:407965::CCCCGCCCCCCGCCCC,NC_000020.11:407965::CCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCC,NC_000020.11:407965::CCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCC,NC_000020.11:407965::CCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCCGCCCCCCGGCCCCGCCCCGCCCCCCGGCCCCGCCCCCGGCCCC,NC_000020.11:407965::CCCCGCCCCCCGGCCCCGCCCCCGGCCCC,NC_000020.11:407965::CCCCGCCCCCGGCCCC,NC_000020.11:407965::CCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCC,NC_000020.11:407965::CCCCGCCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCC,NC_000020.11:407965::CCCCGCCCCGCCCCCGGCCCC,NC_000020.11:407965::CCCCGCCCCTCGGCCCC,NC_000020.11:407965::CCCCGGCCCC,NC_000020.11:407965::CCCCGGCCCCC,NC_000020.11:407965::CCCCGGCCCCCGGCCCCGCCCCCGGCCCC,NC_000020.11:407965::CCCCTCCCC,NC_000020.11:407965::TCCCCGGCCCC
Gene:: RBCK1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
HGVS:: NC_000020.11:g.407965_407966insC, NC_000020.11:g.407965_407966insCCC, NC_000020.11:g.407965_407966insCCCACCCC, NC_000020.11:g.407965_407966insCCCACCCCGCCTCGCGGCCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCC, NC_000020.11:g.407965_407966insCCCCAGGCCCC, NC_000020.11:g.407965_407966insCCCCCCGGGGCC, NC_000020.11:g.407965_407966insCCCCCGCCCCC, NC_000020.11:g.407965_407966insCCCCCGCCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCCGCCCCGCCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCCGGCACC, NC_000020.11:g.407965_407966insCCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCCGGCCCCGCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCCGGCCCCGCCCCCGGCCCCGCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCCGGCCCCGCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCCGTCCCC, NC_000020.11:g.407965_407966insCCCCGC, NC_000020.11:g.407965_407966insCCCCGCCCC, NC_000020.11:g.407965_407966insCCCCGCCCCCC, NC_000020.11:g.407965_407966insCCCCGCCCCCCGCCCC, NC_000020.11:g.407965_407966insCCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCC, NC_000020.11:g.407965_407966insCCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCCGCCCCCCGGCCCCGCCCCGCCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCGCCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCGCCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCGCCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCGCCCCGCCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCGCCCCTCGGCCCC, NC_000020.11:g.407965_407966insCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCGGCCCCC, NC_000020.11:g.407965_407966insCCCCGGCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.11:g.407965_407966insCCCCTCCCC, NC_000020.11:g.407965_407966insTCCCCGGCCCC, NC_000020.10:g.388609_388610insC, NC_000020.10:g.388609_388610insCCC, NC_000020.10:g.388609_388610insCCCACCCC, NC_000020.10:g.388609_388610insCCCACCCCGCCTCGCGGCCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCC, NC_000020.10:g.388609_388610insCCCCAGGCCCC, NC_000020.10:g.388609_388610insCCCCCCGGGGCC, NC_000020.10:g.388609_388610insCCCCCGCCCCC, NC_000020.10:g.388609_388610insCCCCCGCCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCCGCCCCGCCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCCGGCACC, NC_000020.10:g.388609_388610insCCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCCGGCCCCGCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCCGGCCCCGCCCCCGGCCCCGCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCCGGCCCCGCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCCGTCCCC, NC_000020.10:g.388609_388610insCCCCGC, NC_000020.10:g.388609_388610insCCCCGCCCC, NC_000020.10:g.388609_388610insCCCCGCCCCCC, NC_000020.10:g.388609_388610insCCCCGCCCCCCGCCCC, NC_000020.10:g.388609_388610insCCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCC, NC_000020.10:g.388609_388610insCCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCCGCCCCCCGGCCCCGCCCCGCCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCGCCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCGCCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCGCCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCGCCCCGCCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCGCCCCTCGGCCCC, NC_000020.10:g.388609_388610insCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCGGCCCCC, NC_000020.10:g.388609_388610insCCCCGGCCCCCGGCCCCGCCCCCGGCCCC, NC_000020.10:g.388609_388610insCCCCTCCCC, NC_000020.10:g.388609_388610insTCCCCGGCCCC, NG_033233.1:g.4901_4902insC, NG_033233.1:g.4901_4902insCCC, NG_033233.1:g.4901_4902insCCCACCCC, NG_033233.1:g.4901_4902insCCCACCCCGCCTCGCGGCCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCC, NG_033233.1:g.4901_4902insCCCCAGGCCCC, NG_033233.1:g.4901_4902insCCCCCCGGGGCC, NG_033233.1:g.4901_4902insCCCCCGCCCCC, NG_033233.1:g.4901_4902insCCCCCGCCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCCGCCCCGCCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCCGGCACC, NG_033233.1:g.4901_4902insCCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCCGGCCCCGCCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCCGGCCCCGCCCCCGGCCCCGCCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCCGGCCCCGCCCCCGGCCCCGCCCCCGGCCCCGCCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCCGGCCCCGCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCCGTCCCC, NG_033233.1:g.4901_4902insCCCCGC, NG_033233.1:g.4901_4902insCCCCGCCCC, NG_033233.1:g.4901_4902insCCCCGCCCCCC, NG_033233.1:g.4901_4902insCCCCGCCCCCCGCCCC, NG_033233.1:g.4901_4902insCCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCC, NG_033233.1:g.4901_4902insCCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCCGCCCCCCGGCCCCGCCCCGCCCCCCGGCCCCGCCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCGCCCCCCGGCCCCGCCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCGCCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCGCCCCGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCGCCCCGCCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCGCCCCTCGGCCCC, NG_033233.1:g.4901_4902insCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCGGCCCCC, NG_033233.1:g.4901_4902insCCCCGGCCCCCGGCCCCGCCCCCGGCCCC, NG_033233.1:g.4901_4902insCCCCTCCCC, NG_033233.1:g.4901_4902insTCCCCGGCCCC

Select item 14914091485.

rs1491409148 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 20:408007 (GRCh38)
20:388651 (GRCh37)
Canonical SPDI:: NC_000020.11:408006:GG:
Gene:: RBCK1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.408007_408008del, NC_000020.10:g.388651_388652del, NG_033233.1:g.4943_4944del

Select item 14913154166.

rs1491315416 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACTTTC [Show Flanks]
Chromosome:: 20:426787 (GRCh38)
20:407432 (GRCh37)
Canonical SPDI:: NC_000020.11:426787:CTTTCACTTTC:CTTTCACTTTCACTTTC
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTTCACTTTCACTTTC=0./0 (ALFA)
CTTTCA=0.000007/1 (GnomAD)
CTTTCA=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.426793_426798dup, NC_000020.10:g.407437_407442dup, NG_033233.1:g.23729_23734dup

Select item 14912598187.

rs1491259818 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 20:408008 (GRCh38)
20:388652 (GRCh37)
Canonical SPDI:: NC_000020.11:408007:GC:
Gene:: RBCK1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00046/4 (GnomAD)
HGVS:: NC_000020.11:g.408008_408009del, NC_000020.10:g.388652_388653del, NG_033233.1:g.4944_4945del

Select item 14912589308.

rs1491258930 has merged into rs1244095886 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC [Show Flanks]
Chromosome:: 20:408013 (GRCh38)
20:388657 (GRCh37)
Canonical SPDI:: NC_000020.11:408008:CCCCCCC:CCCC,NC_000020.11:408008:CCCCCCC:CCCCC,NC_000020.11:408008:CCCCCCC:CCCCCC,NC_000020.11:408008:CCCCCCC:CCCCCCCC,NC_000020.11:408008:CCCCCCC:CCCCCCCCC,NC_000020.11:408008:CCCCCCC:CCCCCCCCCC,NC_000020.11:408008:CCCCCCC:CCCCCCCCCCC,NC_000020.11:408008:CCCCCCC:CCCCCCCCCCCC,NC_000020.11:408008:CCCCCCC:CCCCCCCCCCCCC,NC_000020.11:408008:CCCCCCC:CCCCCCCCCCCCCC
Gene:: RBCK1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
HGVS:: NC_000020.11:g.408013_408015del, NC_000020.11:g.408014_408015del, NC_000020.11:g.408015del, NC_000020.11:g.408015dup, NC_000020.11:g.408014_408015dup, NC_000020.11:g.408013_408015dup, NC_000020.11:g.408012_408015dup, NC_000020.11:g.408011_408015dup, NC_000020.11:g.408010_408015dup, NC_000020.11:g.408009_408015dup, NC_000020.10:g.388657_388659del, NC_000020.10:g.388658_388659del, NC_000020.10:g.388659del, NC_000020.10:g.388659dup, NC_000020.10:g.388658_388659dup, NC_000020.10:g.388657_388659dup, NC_000020.10:g.388656_388659dup, NC_000020.10:g.388655_388659dup, NC_000020.10:g.388654_388659dup, NC_000020.10:g.388653_388659dup, NG_033233.1:g.4949_4951del, NG_033233.1:g.4950_4951del, NG_033233.1:g.4951del, NG_033233.1:g.4951dup, NG_033233.1:g.4950_4951dup, NG_033233.1:g.4949_4951dup, NG_033233.1:g.4948_4951dup, NG_033233.1:g.4947_4951dup, NG_033233.1:g.4946_4951dup, NG_033233.1:g.4945_4951dup

Select item 14912075309.

rs1491207530 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:426788 (GRCh38)
20:407432 (GRCh37)
Canonical SPDI:: NC_000020.11:426786:TCT:T
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000142/2 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.426788_426789del, NC_000020.10:g.407432_407433del, NG_033233.1:g.23724_23725del

Select item 149119310710.

rs1491193107 has merged into rs768525416 [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,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:426825 (GRCh38)
20:407469 (GRCh37)
Canonical SPDI:: NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.41667/15 (GENOME_DK)
HGVS:: NC_000020.11:g.426825_426844del, NC_000020.11:g.426826_426844del, NC_000020.11:g.426827_426844del, NC_000020.11:g.426828_426844del, NC_000020.11:g.426829_426844del, NC_000020.11:g.426830_426844del, NC_000020.11:g.426831_426844del, NC_000020.11:g.426832_426844del, NC_000020.11:g.426833_426844del, NC_000020.11:g.426834_426844del, NC_000020.11:g.426835_426844del, NC_000020.11:g.426836_426844del, NC_000020.11:g.426837_426844del, NC_000020.11:g.426838_426844del, NC_000020.11:g.426839_426844del, NC_000020.11:g.426840_426844del, NC_000020.11:g.426841_426844del, NC_000020.11:g.426842_426844del, NC_000020.11:g.426843_426844del, NC_000020.11:g.426844del, NC_000020.11:g.426844dup, NC_000020.11:g.426843_426844dup, NC_000020.11:g.426817_426844T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.426817_426844T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.426842_426844dup, NC_000020.11:g.426817_426844T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.426817_426844T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.426841_426844dup, NC_000020.11:g.426817_426844T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.426840_426844dup, NC_000020.11:g.426839_426844dup, NC_000020.11:g.426838_426844dup, NC_000020.11:g.426837_426844dup, NC_000020.11:g.426836_426844dup, NC_000020.11:g.426835_426844dup, NC_000020.11:g.426834_426844dup, NC_000020.11:g.426833_426844dup, NC_000020.11:g.426832_426844dup, NC_000020.11:g.426829_426844dup, NC_000020.11:g.426828_426844dup, NC_000020.11:g.426827_426844dup, NC_000020.11:g.426826_426844dup, NC_000020.11:g.426824_426844dup, NC_000020.11:g.426823_426844dup, NC_000020.11:g.426822_426844dup, NC_000020.11:g.426821_426844dup, NC_000020.11:g.426820_426844dup, NC_000020.11:g.426819_426844dup, NC_000020.11:g.426818_426844dup, NC_000020.11:g.426817_426844dup, NC_000020.11:g.426844_426845insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.426844_426845insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.426844_426845insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.407469_407488del, NC_000020.10:g.407470_407488del, NC_000020.10:g.407471_407488del, NC_000020.10:g.407472_407488del, NC_000020.10:g.407473_407488del, NC_000020.10:g.407474_407488del, NC_000020.10:g.407475_407488del, NC_000020.10:g.407476_407488del, NC_000020.10:g.407477_407488del, NC_000020.10:g.407478_407488del, NC_000020.10:g.407479_407488del, NC_000020.10:g.407480_407488del, NC_000020.10:g.407481_407488del, NC_000020.10:g.407482_407488del, NC_000020.10:g.407483_407488del, NC_000020.10:g.407484_407488del, NC_000020.10:g.407485_407488del, NC_000020.10:g.407486_407488del, NC_000020.10:g.407487_407488del, NC_000020.10:g.407488del, NC_000020.10:g.407488dup, NC_000020.10:g.407487_407488dup, NC_000020.10:g.407461_407488T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.407461_407488T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.407486_407488dup, NC_000020.10:g.407461_407488T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.407461_407488T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.407485_407488dup, NC_000020.10:g.407461_407488T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.407484_407488dup, NC_000020.10:g.407483_407488dup, NC_000020.10:g.407482_407488dup, NC_000020.10:g.407481_407488dup, NC_000020.10:g.407480_407488dup, NC_000020.10:g.407479_407488dup, NC_000020.10:g.407478_407488dup, NC_000020.10:g.407477_407488dup, NC_000020.10:g.407476_407488dup, NC_000020.10:g.407473_407488dup, NC_000020.10:g.407472_407488dup, NC_000020.10:g.407471_407488dup, NC_000020.10:g.407470_407488dup, NC_000020.10:g.407468_407488dup, NC_000020.10:g.407467_407488dup, NC_000020.10:g.407466_407488dup, NC_000020.10:g.407465_407488dup, NC_000020.10:g.407464_407488dup, NC_000020.10:g.407463_407488dup, NC_000020.10:g.407462_407488dup, NC_000020.10:g.407461_407488dup, NC_000020.10:g.407488_407489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.407488_407489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.407488_407489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033233.1:g.23761_23780del, NG_033233.1:g.23762_23780del, NG_033233.1:g.23763_23780del, NG_033233.1:g.23764_23780del, NG_033233.1:g.23765_23780del, NG_033233.1:g.23766_23780del, NG_033233.1:g.23767_23780del, NG_033233.1:g.23768_23780del, NG_033233.1:g.23769_23780del, NG_033233.1:g.23770_23780del, NG_033233.1:g.23771_23780del, NG_033233.1:g.23772_23780del, NG_033233.1:g.23773_23780del, NG_033233.1:g.23774_23780del, NG_033233.1:g.23775_23780del, NG_033233.1:g.23776_23780del, NG_033233.1:g.23777_23780del, NG_033233.1:g.23778_23780del, NG_033233.1:g.23779_23780del, NG_033233.1:g.23780del, NG_033233.1:g.23780dup, NG_033233.1:g.23779_23780dup, NG_033233.1:g.23753_23780T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_033233.1:g.23753_23780T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_033233.1:g.23778_23780dup, NG_033233.1:g.23753_23780T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_033233.1:g.23753_23780T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_033233.1:g.23777_23780dup, NG_033233.1:g.23753_23780T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_033233.1:g.23776_23780dup, NG_033233.1:g.23775_23780dup, NG_033233.1:g.23774_23780dup, NG_033233.1:g.23773_23780dup, NG_033233.1:g.23772_23780dup, NG_033233.1:g.23771_23780dup, NG_033233.1:g.23770_23780dup, NG_033233.1:g.23769_23780dup, NG_033233.1:g.23768_23780dup, NG_033233.1:g.23765_23780dup, NG_033233.1:g.23764_23780dup, NG_033233.1:g.23763_23780dup, NG_033233.1:g.23762_23780dup, NG_033233.1:g.23760_23780dup, NG_033233.1:g.23759_23780dup, NG_033233.1:g.23758_23780dup, NG_033233.1:g.23757_23780dup, NG_033233.1:g.23756_23780dup, NG_033233.1:g.23755_23780dup, NG_033233.1:g.23754_23780dup, NG_033233.1:g.23753_23780dup, NG_033233.1:g.23780_23781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033233.1:g.23780_23781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033233.1:g.23780_23781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149118403811.

rs1491184038 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 20:407965 (GRCh38)
20:388609 (GRCh37)
Canonical SPDI:: NC_000020.11:407964:GG:
Gene:: RBCK1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00085/52 (GnomAD)
-=0.0012/27 (TOMMO)
HGVS:: NC_000020.11:g.407965_407966del, NC_000020.10:g.388609_388610del, NG_033233.1:g.4901_4902del

Select item 149110789412.

rs1491107894 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:407751 (GRCh38)
20:388395 (GRCh37)
Canonical SPDI:: NC_000020.11:407748:AGAG:AG
Gene:: RBCK1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.407749AG[1], NC_000020.10:g.388393AG[1], NG_033233.1:g.4685AG[1]

Select item 149109958513.

rs1491099585 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:431151 (GRCh38)
20:411795 (GRCh37)
Canonical SPDI:: NC_000020.11:431150:AG:
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.431151_431152del, NC_000020.10:g.411795_411796del, NG_033233.1:g.28087_28088del, NM_006462.6:c.*721_*722del, NM_006462.5:c.*721_*722del, NM_031229.4:c.*721_*722del, NM_031229.3:c.*721_*722del, NR_136659.2:n.2688_2689del, NR_136659.1:n.2937_2938del, NM_001323956.2:c.*721_*722del, NM_001323956.1:c.*721_*722del, NM_001323958.2:c.*721_*722del, NM_001323958.1:c.*721_*722del, NM_001410770.1:c.*721_*722del, XM_011529137.3:c.*721_*722del, XM_005260645.3:c.*721_*722del, XM_011529138.2:c.*721_*722del

Select item 149087046314.

rs1490870463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:425743 (GRCh38)
20:406387 (GRCh37)
Canonical SPDI:: NC_000020.11:425742:C:A
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.425743C>A, NC_000020.10:g.406387C>A, NG_033233.1:g.22679C>A

Select item 149085286115.

rs1490852861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:413721 (GRCh38)
20:394365 (GRCh37)
Canonical SPDI:: NC_000020.11:413720:A:T
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.413721A>T, NC_000020.10:g.394365A>T, NG_033233.1:g.10657A>T

Select item 149076676616.

rs1490766766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:406526 (GRCh38)
20:387170 (GRCh37)
Canonical SPDI:: NC_000020.11:406525:G:A,NC_000020.11:406525:G:T
Gene:: RBCK1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.406526G>A, NC_000020.11:g.406526G>T, NC_000020.10:g.387170G>A, NC_000020.10:g.387170G>T, NG_033233.1:g.3462G>A, NG_033233.1:g.3462G>T

Select item 149059582117.

rs1490595821 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:426173 (GRCh38)
20:406817 (GRCh37)
Canonical SPDI:: NC_000020.11:426172:T:G
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.426173T>G, NC_000020.10:g.406817T>G, NG_033233.1:g.23109T>G

Select item 149055976118.

rs1490559761 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 20:425022 (GRCh38)
20:405666 (GRCh37)
Canonical SPDI:: NC_000020.11:425021:CC:
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0074/33 (ALFA)
HGVS:: NC_000020.11:g.425022_425023del, NC_000020.10:g.405666_405667del, NG_033233.1:g.21958_21959del

Select item 149036205419.

rs1490362054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:413155 (GRCh38)
20:393799 (GRCh37)
Canonical SPDI:: NC_000020.11:413154:C:G,NC_000020.11:413154:C:T
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.413155C>G, NC_000020.11:g.413155C>T, NC_000020.10:g.393799C>G, NC_000020.10:g.393799C>T, NG_033233.1:g.10091C>G, NG_033233.1:g.10091C>T

Select item 149031529820.

rs1490315298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:409649 (GRCh38)
20:390293 (GRCh37)
Canonical SPDI:: NC_000020.11:409648:A:G
Gene:: RBCK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.409649A>G, NC_000020.10:g.390293A>G, NG_033233.1:g.6585A>G

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