SNP Links for Gene (Select 145173) - SNP

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Select item 14915867981.

rs1491586798 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATAT [Show Flanks]
Chromosome:: 13:31325809 (GRCh38)
13:31899947 (GRCh37)
Canonical SPDI:: NC_000013.11:31325809::ATAT
Gene:: B3GLCT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
HGVS:: NC_000013.11:g.31325809_31325810insATAT, NC_000013.10:g.31899946_31899947insATAT, NG_011732.2:g.130835_130836insATAT

Select item 14915824052.

rs1491582405 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTTTTTAT [Show Flanks]
Chromosome:: 13:31240490 (GRCh38)
13:31814628 (GRCh37)
Canonical SPDI:: NC_000013.11:31240490:T:TTTTTTTTTTAT
Gene:: B3GLCT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTTTTAT=0.00006/1 (ALFA)
HGVS:: NC_000013.11:g.31240491T[10]AT[1], NC_000013.10:g.31814628T[10]AT[1], NG_011732.2:g.45517T[10]AT[1]

Select item 14915784523.

rs1491578452 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:31237126 (GRCh38)
13:31811264 (GRCh37)
Canonical SPDI:: NC_000013.11:31237126::G
Gene:: B3GLCT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000052/1 (GnomAD)
HGVS:: NC_000013.11:g.31237126_31237127insG, NC_000013.10:g.31811263_31811264insG, NG_011732.2:g.42152_42153insG

Select item 14915377184.

rs1491537718 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:31253595 (GRCh38)
13:31827732 (GRCh37)
Canonical SPDI:: NC_000013.11:31253594:CA:
Gene:: B3GLCT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00159/17 (TOMMO)
HGVS:: NC_000013.11:g.31253595_31253596del, NC_000013.10:g.31827732_31827733del, NG_011732.2:g.58621_58622del

Select item 14915338485.

rs1491533848 has merged into rs59957215 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:31255049 (GRCh38)
13:31829186 (GRCh37)
Canonical SPDI:: NC_000013.11:31255037:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:31255037:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:31255037:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:31255037:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:31255037:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:31255037:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:31255037:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:31255037:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:31255037:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:31255037:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: B3GLCT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000013.11:g.31255049_31255054del, NC_000013.11:g.31255050_31255054del, NC_000013.11:g.31255051_31255054del, NC_000013.11:g.31255052_31255054del, NC_000013.11:g.31255053_31255054del, NC_000013.11:g.31255054del, NC_000013.11:g.31255054dup, NC_000013.11:g.31255053_31255054dup, NC_000013.11:g.31255052_31255054dup, NC_000013.11:g.31255046_31255054dup, NC_000013.10:g.31829186_31829191del, NC_000013.10:g.31829187_31829191del, NC_000013.10:g.31829188_31829191del, NC_000013.10:g.31829189_31829191del, NC_000013.10:g.31829190_31829191del, NC_000013.10:g.31829191del, NC_000013.10:g.31829191dup, NC_000013.10:g.31829190_31829191dup, NC_000013.10:g.31829189_31829191dup, NC_000013.10:g.31829183_31829191dup, NG_011732.2:g.60075_60080del, NG_011732.2:g.60076_60080del, NG_011732.2:g.60077_60080del, NG_011732.2:g.60078_60080del, NG_011732.2:g.60079_60080del, NG_011732.2:g.60080del, NG_011732.2:g.60080dup, NG_011732.2:g.60079_60080dup, NG_011732.2:g.60078_60080dup, NG_011732.2:g.60072_60080dup

Select item 14915165736.

rs1491516573 has merged into rs367763508 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 13:31324702 (GRCh38)
13:31898839 (GRCh37)
Canonical SPDI:: NC_000013.11:31324701:TTTTTTT:TTTTTT,NC_000013.11:31324701:TTTTTTT:TTTTTTTT
Gene:: B3GLCT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.003/15 (1000Genomes)
-=0.01365/25 (Korea1K)
-=0.02205/370 (TOMMO)
HGVS:: NC_000013.11:g.31324708del, NC_000013.11:g.31324708dup, NC_000013.10:g.31898845del, NC_000013.10:g.31898845dup, NG_011732.2:g.129734del, NG_011732.2:g.129734dup

Select item 14914510137.

rs1491451013 [Homo sapiens]

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

Select item 14914410528.

rs1491441052 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:31297036 (GRCh38)
13:31871174 (GRCh37)
Canonical SPDI:: NC_000013.11:31297036::G
Gene:: B3GLCT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000064/17 (TOPMED)
HGVS:: NC_000013.11:g.31297036_31297037insG, NC_000013.10:g.31871173_31871174insG, NG_011732.2:g.102062_102063insG

Select item 14914332579.

rs1491433257 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 13:31213622 (GRCh38)
13:31787760 (GRCh37)
Canonical SPDI:: NC_000013.11:31213622:C:CAC
Gene:: B3GLCT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
CA=0.00032/3 (TOMMO)
HGVS:: NC_000013.11:g.31213623_31213624insAC, NC_000013.10:g.31787760_31787761insAC, NG_011732.2:g.18649_18650insAC

Select item 149142551610.

rs1491425516 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 13:31325812 (GRCh38)
13:31899949 (GRCh37)
Canonical SPDI:: NC_000013.11:31325808:AGAGA:AGA
Gene:: B3GLCT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
HGVS:: NC_000013.11:g.31325810GA[1], NC_000013.10:g.31899947GA[1], NG_011732.2:g.130836GA[1]

Select item 149142219711.

rs1491422197 has merged into rs11314313 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 13:31296709 (GRCh38)
13:31870846 (GRCh37)
Canonical SPDI:: NC_000013.11:31296703:TTTTTTTTTT:TTTTT,NC_000013.11:31296703:TTTTTTTTTT:TTTTTTTT,NC_000013.11:31296703:TTTTTTTTTT:TTTTTTTTT,NC_000013.11:31296703:TTTTTTTTTT:TTTTTTTTTTT
Gene:: B3GLCT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0./0 (GENOME_DK)
T=0.003275/6 (Korea1K)
T=0.006227/24 (ALSPAC)
T=0.008333/5 (NorthernSweden)
T=0.0089/33 (TWINSUK)
T=0.022108/99 (Estonian)
T=0.07831/20728 (TOPMED)
T=0.21226/1063 (1000Genomes)
HGVS:: NC_000013.11:g.31296709_31296713del, NC_000013.11:g.31296712_31296713del, NC_000013.11:g.31296713del, NC_000013.11:g.31296713dup, NC_000013.10:g.31870846_31870850del, NC_000013.10:g.31870849_31870850del, NC_000013.10:g.31870850del, NC_000013.10:g.31870850dup, NG_011732.2:g.101735_101739del, NG_011732.2:g.101738_101739del, NG_011732.2:g.101739del, NG_011732.2:g.101739dup

Select item 149139220812.

rs1491392208 has merged into rs372747180 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:31237367 (GRCh38)
13:31811504 (GRCh37)
Canonical SPDI:: NC_000013.11:31237353:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:31237353:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:31237353:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:31237353:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:31237353:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:31237353:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:31237353:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:31237353:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:31237353:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:31237353:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: B3GLCT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4499/2253 (1000Genomes)
HGVS:: NC_000013.11:g.31237367_31237371del, NC_000013.11:g.31237369_31237371del, NC_000013.11:g.31237370_31237371del, NC_000013.11:g.31237371del, NC_000013.11:g.31237371dup, NC_000013.11:g.31237370_31237371dup, NC_000013.11:g.31237369_31237371dup, NC_000013.11:g.31237368_31237371dup, NC_000013.11:g.31237367_31237371dup, NC_000013.11:g.31237362_31237371dup, NC_000013.10:g.31811504_31811508del, NC_000013.10:g.31811506_31811508del, NC_000013.10:g.31811507_31811508del, NC_000013.10:g.31811508del, NC_000013.10:g.31811508dup, NC_000013.10:g.31811507_31811508dup, NC_000013.10:g.31811506_31811508dup, NC_000013.10:g.31811505_31811508dup, NC_000013.10:g.31811504_31811508dup, NC_000013.10:g.31811499_31811508dup, NG_011732.2:g.42393_42397del, NG_011732.2:g.42395_42397del, NG_011732.2:g.42396_42397del, NG_011732.2:g.42397del, NG_011732.2:g.42397dup, NG_011732.2:g.42396_42397dup, NG_011732.2:g.42395_42397dup, NG_011732.2:g.42394_42397dup, NG_011732.2:g.42393_42397dup, NG_011732.2:g.42388_42397dup

Select item 149138752413.

rs1491387524 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 13:31213608 (GRCh38)
13:31787745 (GRCh37)
Canonical SPDI:: NC_000013.11:31213605:ACAC:AC
Gene:: B3GLCT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACAC=0./0 (ALFA)
HGVS:: NC_000013.11:g.31213606AC[1], NC_000013.10:g.31787743AC[1], NG_011732.2:g.18632AC[1]

Select item 149138096414.

rs1491380964 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:31327675 (GRCh38)
13:31901813 (GRCh37)
Canonical SPDI:: NC_000013.11:31327675:A:AA
Gene:: B3GLCT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.31327676dup, NC_000013.10:g.31901813dup, NG_011732.2:g.132702dup

Select item 149136889615.

rs1491368896 has merged into rs547776947 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTG>-,TG,TGTG,TGTGTGTG,TGTGTGTGTG [Show Flanks]
Chromosome:: 13:31213031 (GRCh38)
13:31787168 (GRCh37)
Canonical SPDI:: NC_000013.11:31213018:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000013.11:31213018:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000013.11:31213018:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000013.11:31213018:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000013.11:31213018:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG
Gene:: B3GLCT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.000057/15 (TOPMED)
-=0.001625/8 (1000Genomes)
TG=0.022755/381 (TOMMO)
HGVS:: NC_000013.11:g.31213019TG[6], NC_000013.11:g.31213019TG[7], NC_000013.11:g.31213019TG[8], NC_000013.11:g.31213019TG[10], NC_000013.11:g.31213019TG[11], NC_000013.10:g.31787156TG[6], NC_000013.10:g.31787156TG[7], NC_000013.10:g.31787156TG[8], NC_000013.10:g.31787156TG[10], NC_000013.10:g.31787156TG[11], NG_011732.2:g.18045TG[6], NG_011732.2:g.18045TG[7], NG_011732.2:g.18045TG[8], NG_011732.2:g.18045TG[10], NG_011732.2:g.18045TG[11]

Select item 149136405416.

rs1491364054 has merged into rs555437821 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 13:31308343 (GRCh38)
13:31882480 (GRCh37)
Canonical SPDI:: NC_000013.11:31308332:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:31308332:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:31308332:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:31308332:AAAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: B3GLCT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000013.11:g.31308343_31308345del, NC_000013.11:g.31308344_31308345del, NC_000013.11:g.31308345del, NC_000013.11:g.31308345dup, NC_000013.10:g.31882480_31882482del, NC_000013.10:g.31882481_31882482del, NC_000013.10:g.31882482del, NC_000013.10:g.31882482dup, NG_011732.2:g.113369_113371del, NG_011732.2:g.113370_113371del, NG_011732.2:g.113371del, NG_011732.2:g.113371dup

Select item 149134509117.

rs1491345091 has merged into rs35512327 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:31253605 (GRCh38)
13:31827742 (GRCh37)
Canonical SPDI:: NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:31253595:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: B3GLCT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0046/2 (NorthernSweden)
HGVS:: NC_000013.11:g.31253605_31253621del, NC_000013.11:g.31253607_31253621del, NC_000013.11:g.31253608_31253621del, NC_000013.11:g.31253609_31253621del, NC_000013.11:g.31253610_31253621del, NC_000013.11:g.31253611_31253621del, NC_000013.11:g.31253612_31253621del, NC_000013.11:g.31253613_31253621del, NC_000013.11:g.31253614_31253621del, NC_000013.11:g.31253615_31253621del, NC_000013.11:g.31253616_31253621del, NC_000013.11:g.31253617_31253621del, NC_000013.11:g.31253618_31253621del, NC_000013.11:g.31253619_31253621del, NC_000013.11:g.31253620_31253621del, NC_000013.11:g.31253621del, NC_000013.11:g.31253621dup, NC_000013.11:g.31253620_31253621dup, NC_000013.11:g.31253619_31253621dup, NC_000013.11:g.31253618_31253621dup, NC_000013.11:g.31253617_31253621dup, NC_000013.11:g.31253615_31253621dup, NC_000013.11:g.31253614_31253621dup, NC_000013.11:g.31253612_31253621dup, NC_000013.11:g.31253608_31253621dup, NC_000013.11:g.31253607_31253621dup, NC_000013.11:g.31253606_31253621dup, NC_000013.11:g.31253605_31253621dup, NC_000013.11:g.31253603_31253621dup, NC_000013.11:g.31253599_31253621dup, NC_000013.11:g.31253621_31253622insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.31827742_31827758del, NC_000013.10:g.31827744_31827758del, NC_000013.10:g.31827745_31827758del, NC_000013.10:g.31827746_31827758del, NC_000013.10:g.31827747_31827758del, NC_000013.10:g.31827748_31827758del, NC_000013.10:g.31827749_31827758del, NC_000013.10:g.31827750_31827758del, NC_000013.10:g.31827751_31827758del, NC_000013.10:g.31827752_31827758del, NC_000013.10:g.31827753_31827758del, NC_000013.10:g.31827754_31827758del, NC_000013.10:g.31827755_31827758del, NC_000013.10:g.31827756_31827758del, NC_000013.10:g.31827757_31827758del, NC_000013.10:g.31827758del, NC_000013.10:g.31827758dup, NC_000013.10:g.31827757_31827758dup, NC_000013.10:g.31827756_31827758dup, NC_000013.10:g.31827755_31827758dup, NC_000013.10:g.31827754_31827758dup, NC_000013.10:g.31827752_31827758dup, NC_000013.10:g.31827751_31827758dup, NC_000013.10:g.31827749_31827758dup, NC_000013.10:g.31827745_31827758dup, NC_000013.10:g.31827744_31827758dup, NC_000013.10:g.31827743_31827758dup, NC_000013.10:g.31827742_31827758dup, NC_000013.10:g.31827740_31827758dup, NC_000013.10:g.31827736_31827758dup, NC_000013.10:g.31827758_31827759insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011732.2:g.58631_58647del, NG_011732.2:g.58633_58647del, NG_011732.2:g.58634_58647del, NG_011732.2:g.58635_58647del, NG_011732.2:g.58636_58647del, NG_011732.2:g.58637_58647del, NG_011732.2:g.58638_58647del, NG_011732.2:g.58639_58647del, NG_011732.2:g.58640_58647del, NG_011732.2:g.58641_58647del, NG_011732.2:g.58642_58647del, NG_011732.2:g.58643_58647del, NG_011732.2:g.58644_58647del, NG_011732.2:g.58645_58647del, NG_011732.2:g.58646_58647del, NG_011732.2:g.58647del, NG_011732.2:g.58647dup, NG_011732.2:g.58646_58647dup, NG_011732.2:g.58645_58647dup, NG_011732.2:g.58644_58647dup, NG_011732.2:g.58643_58647dup, NG_011732.2:g.58641_58647dup, NG_011732.2:g.58640_58647dup, NG_011732.2:g.58638_58647dup, NG_011732.2:g.58634_58647dup, NG_011732.2:g.58633_58647dup, NG_011732.2:g.58632_58647dup, NG_011732.2:g.58631_58647dup, NG_011732.2:g.58629_58647dup, NG_011732.2:g.58625_58647dup, NG_011732.2:g.58647_58648insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149131882618.

rs1491318826 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:31324701 (GRCh38)
13:31898838 (GRCh37)
Canonical SPDI:: NC_000013.11:31324700:CT:
Gene:: B3GLCT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.31324701_31324702del, NC_000013.10:g.31898838_31898839del, NG_011732.2:g.129727_129728del

Select item 149130850219.

rs1491308502 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 13:31237354 (GRCh38)
13:31811492 (GRCh37)
Canonical SPDI:: NC_000013.11:31237354::C
Gene:: B3GLCT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.31237354_31237355insC, NC_000013.10:g.31811491_31811492insC, NG_011732.2:g.42380_42381insC

Select item 149128989020.

rs1491289890 has merged into rs11377541 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 13:31208628 (GRCh38)
13:31782765 (GRCh37)
Canonical SPDI:: NC_000013.11:31208619:CCCCCCCCCCCC:CCCCCCCC,NC_000013.11:31208619:CCCCCCCCCCCC:CCCCCCCCC,NC_000013.11:31208619:CCCCCCCCCCCC:CCCCCCCCCC,NC_000013.11:31208619:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000013.11:31208619:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000013.11:31208619:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000013.11:31208619:CCCCCCCCCCCC:CCCCCCCCCCCCCCC
Gene:: B3GLCT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.31208628_31208631del, NC_000013.11:g.31208629_31208631del, NC_000013.11:g.31208630_31208631del, NC_000013.11:g.31208631del, NC_000013.11:g.31208631dup, NC_000013.11:g.31208630_31208631dup, NC_000013.11:g.31208629_31208631dup, NC_000013.10:g.31782765_31782768del, NC_000013.10:g.31782766_31782768del, NC_000013.10:g.31782767_31782768del, NC_000013.10:g.31782768del, NC_000013.10:g.31782768dup, NC_000013.10:g.31782767_31782768dup, NC_000013.10:g.31782766_31782768dup, NG_011732.2:g.13654_13657del, NG_011732.2:g.13655_13657del, NG_011732.2:g.13656_13657del, NG_011732.2:g.13657del, NG_011732.2:g.13657dup, NG_011732.2:g.13656_13657dup, NG_011732.2:g.13655_13657dup

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