SNP Links for Gene (Select 100873970) - SNP

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Select item 14915890931.

rs1491589093 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AATA,AATATAAA,AATATATAA,AATATATATATAA,AATATATATATTATATATATAA,AATATATATTATATATATAATATATATATTATATATATAA,ACA,ACTATATATATAA,AG,ATAA,ATAATA,ATATATAA,ATATATATAATATA,ATATATATTATATATATAA,ATATATATTATATATATAATATATATATTATATATATAA,ATATATATTATATATATAATATATATATTATATATATAATATATATATTATATATATTATATATATAATATATATATTATATATATAATATATATATTATATATATAA,ATATATTATATATAA,ATATTA,ATATTATATATATAA,ATATTATG,ATTA,ATTATA,ATTATATATATAA,ATTATATATATAATATATATATAATA,ATTATATATATAATATATATATTATATATATAA,ATTATATATATTATATATATAATATATATATTATATATATAA,G,GTATAAA [Show Flanks]
Chromosome:: 13:92347882 (GRCh38)
13:93000136 (GRCh37)
Canonical SPDI:: NC_000013.11:92347882::A,NC_000013.11:92347882::AA,NC_000013.11:92347882::AATA,NC_000013.11:92347882::AATATAAA,NC_000013.11:92347882::AATATATAA,NC_000013.11:92347882::AATATATATATAA,NC_000013.11:92347882::AATATATATATTATATATATAA,NC_000013.11:92347882::AATATATATTATATATATAATATATATATTATATATATAA,NC_000013.11:92347882::ACA,NC_000013.11:92347882::ACTATATATATAA,NC_000013.11:92347882::AG,NC_000013.11:92347882::ATAA,NC_000013.11:92347882::ATAATA,NC_000013.11:92347882::ATATATAA,NC_000013.11:92347882::ATATATATAATATA,NC_000013.11:92347882::ATATATATTATATATATAA,NC_000013.11:92347882::ATATATATTATATATATAATATATATATTATATATATAA,NC_000013.11:92347882::ATATATATTATATATATAATATATATATTATATATATAATATATATATTATATATATTATATATATAATATATATATTATATATATAATATATATATTATATATATAA,NC_000013.11:92347882::ATATATTATATATAA,NC_000013.11:92347882::ATATTA,NC_000013.11:92347882::ATATTATATATATAA,NC_000013.11:92347882::ATATTATG,NC_000013.11:92347882::ATTA,NC_000013.11:92347882::ATTATA,NC_000013.11:92347882::ATTATATATATAA,NC_000013.11:92347882::ATTATATATATAATATATATATAATA,NC_000013.11:92347882::ATTATATATATAATATATATATTATATATATAA,NC_000013.11:92347882::ATTATATATATTATATATATAATATATATATTATATATATAA,NC_000013.11:92347882::G,NC_000013.11:92347882::GTATAAA
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000013.11:g.92347882_92347883insA, NC_000013.11:g.92347882_92347883insAA, NC_000013.11:g.92347882_92347883insAATA, NC_000013.11:g.92347882_92347883insAATATAAA, NC_000013.11:g.92347882_92347883insAATATATAA, NC_000013.11:g.92347882_92347883insAATATATATATAA, NC_000013.11:g.92347882_92347883insAATATATATATTATATATATAA, NC_000013.11:g.92347882_92347883insAATATATATTATATATATAATATATATATTATATATATAA, NC_000013.11:g.92347882_92347883insACA, NC_000013.11:g.92347882_92347883insACTATATATATAA, NC_000013.11:g.92347882_92347883insAG, NC_000013.11:g.92347882_92347883insATAA, NC_000013.11:g.92347882_92347883insATAATA, NC_000013.11:g.92347882_92347883insATATATAA, NC_000013.11:g.92347882_92347883insATATATATAATATA, NC_000013.11:g.92347882_92347883insATATATATTATATATATAA, NC_000013.11:g.92347882_92347883insATATATATTATATATATAATATATATATTATATATATAA, NC_000013.11:g.92347882_92347883insATATATATTATATATATAATATATATATTATATATATAATATATATATTATATATATTATATATATAATATATATATTATATATATAATATATATATTATATATATAA, NC_000013.11:g.92347882_92347883insATATATTATATATAA, NC_000013.11:g.92347882_92347883insATATTA, NC_000013.11:g.92347882_92347883insATATTATATATATAA, NC_000013.11:g.92347882_92347883insATATTATG, NC_000013.11:g.92347882_92347883insATTA, NC_000013.11:g.92347882_92347883insATTATA, NC_000013.11:g.92347882_92347883insATTATATATATAA, NC_000013.11:g.92347882_92347883insATTATATATATAATATATATATAATA, NC_000013.11:g.92347882_92347883insATTATATATATAATATATATATTATATATATAA, NC_000013.11:g.92347882_92347883insATTATATATATTATATATATAATATATATATTATATATATAA, NC_000013.11:g.92347882_92347883insG, NC_000013.11:g.92347882_92347883insGTATAAA, NC_000013.10:g.93000135_93000136insA, NC_000013.10:g.93000135_93000136insAA, NC_000013.10:g.93000135_93000136insAATA, NC_000013.10:g.93000135_93000136insAATATAAA, NC_000013.10:g.93000135_93000136insAATATATAA, NC_000013.10:g.93000135_93000136insAATATATATATAA, NC_000013.10:g.93000135_93000136insAATATATATATTATATATATAA, NC_000013.10:g.93000135_93000136insAATATATATTATATATATAATATATATATTATATATATAA, NC_000013.10:g.93000135_93000136insACA, NC_000013.10:g.93000135_93000136insACTATATATATAA, NC_000013.10:g.93000135_93000136insAG, NC_000013.10:g.93000135_93000136insATAA, NC_000013.10:g.93000135_93000136insATAATA, NC_000013.10:g.93000135_93000136insATATATAA, NC_000013.10:g.93000135_93000136insATATATATAATATA, NC_000013.10:g.93000135_93000136insATATATATTATATATATAA, NC_000013.10:g.93000135_93000136insATATATATTATATATATAATATATATATTATATATATAA, NC_000013.10:g.93000135_93000136insATATATATTATATATATAATATATATATTATATATATAATATATATATTATATATATTATATATATAATATATATATTATATATATAATATATATATTATATATATAA, NC_000013.10:g.93000135_93000136insATATATTATATATAA, NC_000013.10:g.93000135_93000136insATATTA, NC_000013.10:g.93000135_93000136insATATTATATATATAA, NC_000013.10:g.93000135_93000136insATATTATG, NC_000013.10:g.93000135_93000136insATTA, NC_000013.10:g.93000135_93000136insATTATA, NC_000013.10:g.93000135_93000136insATTATATATATAA, NC_000013.10:g.93000135_93000136insATTATATATATAATATATATATAATA, NC_000013.10:g.93000135_93000136insATTATATATATAATATATATATTATATATATAA, NC_000013.10:g.93000135_93000136insATTATATATATTATATATATAATATATATATTATATATATAA, NC_000013.10:g.93000135_93000136insG, NC_000013.10:g.93000135_93000136insGTATAAA, NG_009370.2:g.954202_954203insA, NG_009370.2:g.954202_954203insAA, NG_009370.2:g.954202_954203insAATA, NG_009370.2:g.954202_954203insAATATAAA, NG_009370.2:g.954202_954203insAATATATAA, NG_009370.2:g.954202_954203insAATATATATATAA, NG_009370.2:g.954202_954203insAATATATATATTATATATATAA, NG_009370.2:g.954202_954203insAATATATATTATATATATAATATATATATTATATATATAA, NG_009370.2:g.954202_954203insACA, NG_009370.2:g.954202_954203insACTATATATATAA, NG_009370.2:g.954202_954203insAG, NG_009370.2:g.954202_954203insATAA, NG_009370.2:g.954202_954203insATAATA, NG_009370.2:g.954202_954203insATATATAA, NG_009370.2:g.954202_954203insATATATATAATATA, NG_009370.2:g.954202_954203insATATATATTATATATATAA, NG_009370.2:g.954202_954203insATATATATTATATATATAATATATATATTATATATATAA, NG_009370.2:g.954202_954203insATATATATTATATATATAATATATATATTATATATATAATATATATATTATATATATTATATATATAATATATATATTATATATATAATATATATATTATATATATAA, NG_009370.2:g.954202_954203insATATATTATATATAA, NG_009370.2:g.954202_954203insATATTA, NG_009370.2:g.954202_954203insATATTATATATATAA, NG_009370.2:g.954202_954203insATATTATG, NG_009370.2:g.954202_954203insATTA, NG_009370.2:g.954202_954203insATTATA, NG_009370.2:g.954202_954203insATTATATATATAA, NG_009370.2:g.954202_954203insATTATATATATAATATATATATAATA, NG_009370.2:g.954202_954203insATTATATATATAATATATATATTATATATATAA, NG_009370.2:g.954202_954203insATTATATATATTATATATATAATATATATATTATATATATAA, NG_009370.2:g.954202_954203insG, NG_009370.2:g.954202_954203insGTATAAA

Select item 14915829292.

rs1491582929 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 13:92347891 (GRCh38)
13:93000144 (GRCh37)
Canonical SPDI:: NC_000013.11:92347890:TT:
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00071/10 (TOMMO)
-=0.00124/21 (GnomAD)
HGVS:: NC_000013.11:g.92347891_92347892del, NC_000013.10:g.93000144_93000145del, NG_009370.2:g.954211_954212del

Select item 14915584063.

rs1491558406 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 13:92347901 (GRCh38)
13:93000154 (GRCh37)
Canonical SPDI:: NC_000013.11:92347900:AA:
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00088/11 (TOMMO)
-=0.00217/24 (GnomAD)
HGVS:: NC_000013.11:g.92347901_92347902del, NC_000013.10:g.93000154_93000155del, NG_009370.2:g.954221_954222del

Select item 14913848614.

rs1491384861 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CATC,T,TAATATATAAT,TATATATAATATATATATT,TATATATAATATATATATTATATATATAATATATATATT,TATATATAATATATATATTATATATATTATATATATAATATATATATT,TATATATAATATATATATTATATATATTATATATATATT,TATT,TATTATATATATATAC,TGT,TGTTTTAT,TTT,TTTAT [Show Flanks]
Chromosome:: 13:92347912 (GRCh38)
13:93000166 (GRCh37)
Canonical SPDI:: NC_000013.11:92347912::C,NC_000013.11:92347912::CATC,NC_000013.11:92347912::T,NC_000013.11:92347912::TAATATATAAT,NC_000013.11:92347912::TATATATAATATATATATT,NC_000013.11:92347912::TATATATAATATATATATTATATATATAATATATATATT,NC_000013.11:92347912::TATATATAATATATATATTATATATATTATATATATAATATATATATT,NC_000013.11:92347912::TATATATAATATATATATTATATATATTATATATATATT,NC_000013.11:92347912::TATT,NC_000013.11:92347912::TATTATATATATATAC,NC_000013.11:92347912::TGT,NC_000013.11:92347912::TGTTTTAT,NC_000013.11:92347912::TTT,NC_000013.11:92347912::TTTAT
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATC=0./0 (ALFA)
HGVS:: NC_000013.11:g.92347912_92347913insC, NC_000013.11:g.92347912_92347913insCATC, NC_000013.11:g.92347912_92347913insT, NC_000013.11:g.92347912_92347913insTAATATATAAT, NC_000013.11:g.92347912_92347913insTATATATAATATATATATT, NC_000013.11:g.92347912_92347913insTATATATAATATATATATTATATATATAATATATATATT, NC_000013.11:g.92347912_92347913insTATATATAATATATATATTATATATATTATATATATAATATATATATT, NC_000013.11:g.92347912_92347913insTATATATAATATATATATTATATATATTATATATATATT, NC_000013.11:g.92347912_92347913insTATT, NC_000013.11:g.92347912_92347913insTATTATATATATATAC, NC_000013.11:g.92347912_92347913insTGT, NC_000013.11:g.92347912_92347913insTGTTTTAT, NC_000013.11:g.92347912_92347913insTTT, NC_000013.11:g.92347912_92347913insTTTAT, NC_000013.10:g.93000165_93000166insC, NC_000013.10:g.93000165_93000166insCATC, NC_000013.10:g.93000165_93000166insT, NC_000013.10:g.93000165_93000166insTAATATATAAT, NC_000013.10:g.93000165_93000166insTATATATAATATATATATT, NC_000013.10:g.93000165_93000166insTATATATAATATATATATTATATATATAATATATATATT, NC_000013.10:g.93000165_93000166insTATATATAATATATATATTATATATATTATATATATAATATATATATT, NC_000013.10:g.93000165_93000166insTATATATAATATATATATTATATATATTATATATATATT, NC_000013.10:g.93000165_93000166insTATT, NC_000013.10:g.93000165_93000166insTATTATATATATATAC, NC_000013.10:g.93000165_93000166insTGT, NC_000013.10:g.93000165_93000166insTGTTTTAT, NC_000013.10:g.93000165_93000166insTTT, NC_000013.10:g.93000165_93000166insTTTAT, NG_009370.2:g.954232_954233insC, NG_009370.2:g.954232_954233insCATC, NG_009370.2:g.954232_954233insT, NG_009370.2:g.954232_954233insTAATATATAAT, NG_009370.2:g.954232_954233insTATATATAATATATATATT, NG_009370.2:g.954232_954233insTATATATAATATATATATTATATATATAATATATATATT, NG_009370.2:g.954232_954233insTATATATAATATATATATTATATATATTATATATATAATATATATATT, NG_009370.2:g.954232_954233insTATATATAATATATATATTATATATATTATATATATATT, NG_009370.2:g.954232_954233insTATT, NG_009370.2:g.954232_954233insTATTATATATATATAC, NG_009370.2:g.954232_954233insTGT, NG_009370.2:g.954232_954233insTGTTTTAT, NG_009370.2:g.954232_954233insTTT, NG_009370.2:g.954232_954233insTTTAT

Select item 14913560065.

rs1491356006 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 13:92347912 (GRCh38)
13:93000165 (GRCh37)
Canonical SPDI:: NC_000013.11:92347911:AA:
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.01592/5 (NorthernSweden)
-=0.02591/296 (TOMMO)
HGVS:: NC_000013.11:g.92347912_92347913del, NC_000013.10:g.93000165_93000166del, NG_009370.2:g.954232_954233del

Select item 14913341246.

rs1491334124 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 13:92347882 (GRCh38)
13:93000135 (GRCh37)
Canonical SPDI:: NC_000013.11:92347881:TT:
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00133/3 (GnomAD)
HGVS:: NC_000013.11:g.92347882_92347883del, NC_000013.10:g.93000135_93000136del, NG_009370.2:g.954202_954203del

Select item 14913335587.

rs1491333558 has merged into rs1555329528 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA [Show Flanks]
Chromosome:: 13:92347909 (GRCh38)
13:93000162 (GRCh37)
Canonical SPDI:: NC_000013.11:92347901:ATATATATATA:ATATATA,NC_000013.11:92347901:ATATATATATA:ATATATATA,NC_000013.11:92347901:ATATATATATA:ATATATATATATA,NC_000013.11:92347901:ATATATATATA:ATATATATATATATA
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATA=0./0 (ALFA)
-=0.00229/52 (TOMMO)
-=0.08242/1077 (GnomAD)
HGVS:: NC_000013.11:g.92347903TA[3], NC_000013.11:g.92347903TA[4], NC_000013.11:g.92347903TA[6], NC_000013.11:g.92347903TA[7], NC_000013.10:g.93000156TA[3], NC_000013.10:g.93000156TA[4], NC_000013.10:g.93000156TA[6], NC_000013.10:g.93000156TA[7], NG_009370.2:g.954223TA[3], NG_009370.2:g.954223TA[4], NG_009370.2:g.954223TA[6], NG_009370.2:g.954223TA[7]

Select item 14912982508.

rs1491298250 has merged into rs1455297240 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATAT>-,TATATATTATATAT [Show Flanks]
Chromosome:: 13:92347883 (GRCh38)
13:93000136 (GRCh37)
Canonical SPDI:: NC_000013.11:92347875:TATATATTATATAT:TATATAT,NC_000013.11:92347875:TATATATTATATAT:TATATATTATATATTATATAT
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATTATATATTATATAT=0./0 (ALFA)
-=0.01667/238 (TOMMO)
-=0.03497/57 (GnomAD)
HGVS:: NC_000013.11:g.92347876TATATAT[1], NC_000013.11:g.92347876TATATAT[3], NC_000013.10:g.93000129TATATAT[1], NC_000013.10:g.93000129TATATAT[3], NG_009370.2:g.954196TATATAT[1], NG_009370.2:g.954196TATATAT[3]

Select item 14912763599.

rs1491276359 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 13:92347864 (GRCh38)
13:93000117 (GRCh37)
Canonical SPDI:: NC_000013.11:92347863:TT:
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00554/93 (GnomAD)
HGVS:: NC_000013.11:g.92347864_92347865del, NC_000013.10:g.93000117_93000118del, NG_009370.2:g.954184_954185del

Select item 149127532710.

rs1491275327 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAATA,AATA,AATG,ACA,ACATATATA,ATA,ATATATATATATA,G [Show Flanks]
Chromosome:: 13:92347891 (GRCh38)
13:93000145 (GRCh37)
Canonical SPDI:: NC_000013.11:92347891::A,NC_000013.11:92347891::AA,NC_000013.11:92347891::AAATA,NC_000013.11:92347891::AATA,NC_000013.11:92347891::AATG,NC_000013.11:92347891::ACA,NC_000013.11:92347891::ACATATATA,NC_000013.11:92347891::ATA,NC_000013.11:92347891::ATATATATATATA,NC_000013.11:92347891::G
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATA=0./0 (ALFA)
HGVS:: NC_000013.11:g.92347891_92347892insA, NC_000013.11:g.92347891_92347892insAA, NC_000013.11:g.92347891_92347892insAAATA, NC_000013.11:g.92347891_92347892insAATA, NC_000013.11:g.92347891_92347892insAATG, NC_000013.11:g.92347891_92347892insACA, NC_000013.11:g.92347891_92347892insACATATATA, NC_000013.11:g.92347891_92347892insATA, NC_000013.11:g.92347891_92347892insATATATATATATA, NC_000013.11:g.92347891_92347892insG, NC_000013.10:g.93000144_93000145insA, NC_000013.10:g.93000144_93000145insAA, NC_000013.10:g.93000144_93000145insAAATA, NC_000013.10:g.93000144_93000145insAATA, NC_000013.10:g.93000144_93000145insAATG, NC_000013.10:g.93000144_93000145insACA, NC_000013.10:g.93000144_93000145insACATATATA, NC_000013.10:g.93000144_93000145insATA, NC_000013.10:g.93000144_93000145insATATATATATATA, NC_000013.10:g.93000144_93000145insG, NG_009370.2:g.954211_954212insA, NG_009370.2:g.954211_954212insAA, NG_009370.2:g.954211_954212insAAATA, NG_009370.2:g.954211_954212insAATA, NG_009370.2:g.954211_954212insAATG, NG_009370.2:g.954211_954212insACA, NG_009370.2:g.954211_954212insACATATATA, NG_009370.2:g.954211_954212insATA, NG_009370.2:g.954211_954212insATATATATATATA, NG_009370.2:g.954211_954212insG

Select item 149123656511.

rs1491236565 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 13:92347924 (GRCh38)
13:93000177 (GRCh37)
Canonical SPDI:: NC_000013.11:92347923:TT:
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.92347924_92347925del, NC_000013.10:g.93000177_93000178del, NG_009370.2:g.954244_954245del

Select item 149120205912.

rs1491202059 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAATA,AATATATAATATATTATATATAC,ACA,ATA,ATATA,ATATATAA,ATATTA,ATATTATATATAATATAATATATA,ATGTATG,ATTA,ATTATATATAATATAATATA,G [Show Flanks]
Chromosome:: 13:92347864 (GRCh38)
13:93000118 (GRCh37)
Canonical SPDI:: NC_000013.11:92347864::A,NC_000013.11:92347864::AA,NC_000013.11:92347864::AAATA,NC_000013.11:92347864::AATATATAATATATTATATATAC,NC_000013.11:92347864::ACA,NC_000013.11:92347864::ATA,NC_000013.11:92347864::ATATA,NC_000013.11:92347864::ATATATAA,NC_000013.11:92347864::ATATTA,NC_000013.11:92347864::ATATTATATATAATATAATATATA,NC_000013.11:92347864::ATGTATG,NC_000013.11:92347864::ATTA,NC_000013.11:92347864::ATTATATATAATATAATATA,NC_000013.11:92347864::G
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00014/2 (TOMMO)
A=0.002/1 (NorthernSweden)
HGVS:: NC_000013.11:g.92347864_92347865insA, NC_000013.11:g.92347864_92347865insAA, NC_000013.11:g.92347864_92347865insAAATA, NC_000013.11:g.92347864_92347865insAATATATAATATATTATATATAC, NC_000013.11:g.92347864_92347865insACA, NC_000013.11:g.92347864_92347865insATA, NC_000013.11:g.92347864_92347865insATATA, NC_000013.11:g.92347864_92347865insATATATAA, NC_000013.11:g.92347864_92347865insATATTA, NC_000013.11:g.92347864_92347865insATATTATATATAATATAATATATA, NC_000013.11:g.92347864_92347865insATGTATG, NC_000013.11:g.92347864_92347865insATTA, NC_000013.11:g.92347864_92347865insATTATATATAATATAATATA, NC_000013.11:g.92347864_92347865insG, NC_000013.10:g.93000117_93000118insA, NC_000013.10:g.93000117_93000118insAA, NC_000013.10:g.93000117_93000118insAAATA, NC_000013.10:g.93000117_93000118insAATATATAATATATTATATATAC, NC_000013.10:g.93000117_93000118insACA, NC_000013.10:g.93000117_93000118insATA, NC_000013.10:g.93000117_93000118insATATA, NC_000013.10:g.93000117_93000118insATATATAA, NC_000013.10:g.93000117_93000118insATATTA, NC_000013.10:g.93000117_93000118insATATTATATATAATATAATATATA, NC_000013.10:g.93000117_93000118insATGTATG, NC_000013.10:g.93000117_93000118insATTA, NC_000013.10:g.93000117_93000118insATTATATATAATATAATATA, NC_000013.10:g.93000117_93000118insG, NG_009370.2:g.954184_954185insA, NG_009370.2:g.954184_954185insAA, NG_009370.2:g.954184_954185insAAATA, NG_009370.2:g.954184_954185insAATATATAATATATTATATATAC, NG_009370.2:g.954184_954185insACA, NG_009370.2:g.954184_954185insATA, NG_009370.2:g.954184_954185insATATA, NG_009370.2:g.954184_954185insATATATAA, NG_009370.2:g.954184_954185insATATTA, NG_009370.2:g.954184_954185insATATTATATATAATATAATATATA, NG_009370.2:g.954184_954185insATGTATG, NG_009370.2:g.954184_954185insATTA, NG_009370.2:g.954184_954185insATTATATATAATATAATATA, NG_009370.2:g.954184_954185insG

Select item 149119130113.

rs1491191301 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATATATAT,TATATATATAATATATATATTATATATATTATATATAT,TATATATATTATATATATAATATATATATTATATATAT,TATATATATTATATATATATTATATATATTATATATAT [Show Flanks]
Chromosome:: 13:92347902 (GRCh38)
13:93000156 (GRCh37)
Canonical SPDI:: NC_000013.11:92347902:TATATATAT:TATATATATTATATATAT,NC_000013.11:92347902:TATATATAT:TATATATATTATATATATAATATATATATTATATATATTATATATAT,NC_000013.11:92347902:TATATATAT:TATATATATTATATATATTATATATATAATATATATATTATATATAT,NC_000013.11:92347902:TATATATAT:TATATATATTATATATATTATATATATATTATATATATTATATATAT
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATTATATATAT=0./0 (ALFA)
TATATATAT=0.01213/163 (TOMMO)
HGVS:: NC_000013.11:g.92347903_92347911dup, NC_000013.11:g.92347903_92347911TATATATAT[2]AATATATATATTATATATATTATATATAT[1], NC_000013.11:g.92347903_92347911TATATATAT[3]AATATATATATTATATATAT[1], NC_000013.11:g.92347903_92347911TATATATATTATATATATTA[2]TA[3]T[1], NC_000013.10:g.93000156_93000164dup, NC_000013.10:g.93000156_93000164TATATATAT[2]AATATATATATTATATATATTATATATAT[1], NC_000013.10:g.93000156_93000164TATATATAT[3]AATATATATATTATATATAT[1], NC_000013.10:g.93000156_93000164TATATATATTATATATATTA[2]TA[3]T[1], NG_009370.2:g.954223_954231dup, NG_009370.2:g.954223_954231TATATATAT[2]AATATATATATTATATATATTATATATAT[1], NG_009370.2:g.954223_954231TATATATAT[3]AATATATATATTATATATAT[1], NG_009370.2:g.954223_954231TATATATATTATATATATTA[2]TA[3]T[1]

Select item 149118330814.

rs1491183308 has merged into rs1555329507 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,ATAT,ATATATAT,ATATATATTATATATATAATATATATAT,ATATATATTATATATATAATATATATATTATATATATAATATATATAT [Show Flanks]
Chromosome:: 13:92347877 (GRCh38)
13:93000130 (GRCh37)
Canonical SPDI:: NC_000013.11:92347874:ATATATAT:AT,NC_000013.11:92347874:ATATATAT:ATATAT,NC_000013.11:92347874:ATATATAT:ATATATATAT,NC_000013.11:92347874:ATATATAT:ATATATATATTATATATATAATATATATAT,NC_000013.11:92347874:ATATATAT:ATATATATATTATATATATAATATATATATTATATATATAATATATATAT
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAT=0./0 (ALFA)
HGVS:: NC_000013.11:g.92347875AT[1], NC_000013.11:g.92347875AT[3], NC_000013.11:g.92347875AT[5], NC_000013.11:g.92347875_92347882AT[5]TA[5]AT[5], NC_000013.11:g.92347875_92347882ATATATATATTATATATATA[2]AT[5], NC_000013.10:g.93000128AT[1], NC_000013.10:g.93000128AT[3], NC_000013.10:g.93000128AT[5], NC_000013.10:g.93000128_93000135AT[5]TA[5]AT[5], NC_000013.10:g.93000128_93000135ATATATATATTATATATATA[2]AT[5], NG_009370.2:g.954195AT[1], NG_009370.2:g.954195AT[3], NG_009370.2:g.954195AT[5], NG_009370.2:g.954195_954202AT[5]TA[5]AT[5], NG_009370.2:g.954195_954202ATATATATATTATATATATA[2]AT[5]

Select item 149116856915.

rs1491168569 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAATA,AAATAATA,AATA,AATATA,AATGTATAATA,AATGTATAATATATAATGTATAATA,ACATATAAGATGTATATAATA,ATAATA,ATAATATATATTATATATATAATA,ATACA,ATACATATAAGATGTATATAATA,ATATAATA,ATATAATATATTATATATATAATA,ATATATAA,ATATATAATATA,ATATATATTATATATTATATATAATATATATAATATATATATAATATA,ATATATTATATATATAA,ATATATTATATATATAATATATATATTA,ATATATTATATATTATATATATTATATATATAATATATAATATA,ATATTATATATATAA,GTAATA,GTATATA [Show Flanks]
Chromosome:: 13:92347924 (GRCh38)
13:93000178 (GRCh37)
Canonical SPDI:: NC_000013.11:92347924::A,NC_000013.11:92347924::AA,NC_000013.11:92347924::AAATA,NC_000013.11:92347924::AAATAATA,NC_000013.11:92347924::AATA,NC_000013.11:92347924::AATATA,NC_000013.11:92347924::AATGTATAATA,NC_000013.11:92347924::AATGTATAATATATAATGTATAATA,NC_000013.11:92347924::ACATATAAGATGTATATAATA,NC_000013.11:92347924::ATAATA,NC_000013.11:92347924::ATAATATATATTATATATATAATA,NC_000013.11:92347924::ATACA,NC_000013.11:92347924::ATACATATAAGATGTATATAATA,NC_000013.11:92347924::ATATAATA,NC_000013.11:92347924::ATATAATATATTATATATATAATA,NC_000013.11:92347924::ATATATAA,NC_000013.11:92347924::ATATATAATATA,NC_000013.11:92347924::ATATATATTATATATTATATATAATATATATAATATATATATAATATA,NC_000013.11:92347924::ATATATTATATATATAA,NC_000013.11:92347924::ATATATTATATATATAATATATATATTA,NC_000013.11:92347924::ATATATTATATATTATATATATTATATATATAATATATAATATA,NC_000013.11:92347924::ATATTATATATATAA,NC_000013.11:92347924::GTAATA,NC_000013.11:92347924::GTATATA
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATA=0./0 (ALFA)
HGVS:: NC_000013.11:g.92347924_92347925insA, NC_000013.11:g.92347924_92347925insAA, NC_000013.11:g.92347924_92347925insAAATA, NC_000013.11:g.92347924_92347925insAAATAATA, NC_000013.11:g.92347924_92347925insAATA, NC_000013.11:g.92347924_92347925insAATATA, NC_000013.11:g.92347924_92347925insAATGTATAATA, NC_000013.11:g.92347924_92347925insAATGTATAATATATAATGTATAATA, NC_000013.11:g.92347924_92347925insACATATAAGATGTATATAATA, NC_000013.11:g.92347924_92347925insATAATA, NC_000013.11:g.92347924_92347925insATAATATATATTATATATATAATA, NC_000013.11:g.92347924_92347925insATACA, NC_000013.11:g.92347924_92347925insATACATATAAGATGTATATAATA, NC_000013.11:g.92347924_92347925insATATAATA, NC_000013.11:g.92347924_92347925insATATAATATATTATATATATAATA, NC_000013.11:g.92347924_92347925insATATATAA, NC_000013.11:g.92347924_92347925insATATATAATATA, NC_000013.11:g.92347924_92347925insATATATATTATATATTATATATAATATATATAATATATATATAATATA, NC_000013.11:g.92347924_92347925insATATATTATATATATAA, NC_000013.11:g.92347924_92347925insATATATTATATATATAATATATATATTA, NC_000013.11:g.92347924_92347925insATATATTATATATTATATATATTATATATATAATATATAATATA, NC_000013.11:g.92347924_92347925insATATTATATATATAA, NC_000013.11:g.92347924_92347925insGTAATA, NC_000013.11:g.92347924_92347925insGTATATA, NC_000013.10:g.93000177_93000178insA, NC_000013.10:g.93000177_93000178insAA, NC_000013.10:g.93000177_93000178insAAATA, NC_000013.10:g.93000177_93000178insAAATAATA, NC_000013.10:g.93000177_93000178insAATA, NC_000013.10:g.93000177_93000178insAATATA, NC_000013.10:g.93000177_93000178insAATGTATAATA, NC_000013.10:g.93000177_93000178insAATGTATAATATATAATGTATAATA, NC_000013.10:g.93000177_93000178insACATATAAGATGTATATAATA, NC_000013.10:g.93000177_93000178insATAATA, NC_000013.10:g.93000177_93000178insATAATATATATTATATATATAATA, NC_000013.10:g.93000177_93000178insATACA, NC_000013.10:g.93000177_93000178insATACATATAAGATGTATATAATA, NC_000013.10:g.93000177_93000178insATATAATA, NC_000013.10:g.93000177_93000178insATATAATATATTATATATATAATA, NC_000013.10:g.93000177_93000178insATATATAA, NC_000013.10:g.93000177_93000178insATATATAATATA, NC_000013.10:g.93000177_93000178insATATATATTATATATTATATATAATATATATAATATATATATAATATA, NC_000013.10:g.93000177_93000178insATATATTATATATATAA, NC_000013.10:g.93000177_93000178insATATATTATATATATAATATATATATTA, NC_000013.10:g.93000177_93000178insATATATTATATATTATATATATTATATATATAATATATAATATA, NC_000013.10:g.93000177_93000178insATATTATATATATAA, NC_000013.10:g.93000177_93000178insGTAATA, NC_000013.10:g.93000177_93000178insGTATATA, NG_009370.2:g.954244_954245insA, NG_009370.2:g.954244_954245insAA, NG_009370.2:g.954244_954245insAAATA, NG_009370.2:g.954244_954245insAAATAATA, NG_009370.2:g.954244_954245insAATA, NG_009370.2:g.954244_954245insAATATA, NG_009370.2:g.954244_954245insAATGTATAATA, NG_009370.2:g.954244_954245insAATGTATAATATATAATGTATAATA, NG_009370.2:g.954244_954245insACATATAAGATGTATATAATA, NG_009370.2:g.954244_954245insATAATA, NG_009370.2:g.954244_954245insATAATATATATTATATATATAATA, NG_009370.2:g.954244_954245insATACA, NG_009370.2:g.954244_954245insATACATATAAGATGTATATAATA, NG_009370.2:g.954244_954245insATATAATA, NG_009370.2:g.954244_954245insATATAATATATTATATATATAATA, NG_009370.2:g.954244_954245insATATATAA, NG_009370.2:g.954244_954245insATATATAATATA, NG_009370.2:g.954244_954245insATATATATTATATATTATATATAATATATATAATATATATATAATATA, NG_009370.2:g.954244_954245insATATATTATATATATAA, NG_009370.2:g.954244_954245insATATATTATATATATAATATATATATTA, NG_009370.2:g.954244_954245insATATATTATATATTATATATATTATATATATAATATATAATATA, NG_009370.2:g.954244_954245insATATTATATATATAA, NG_009370.2:g.954244_954245insGTAATA, NG_009370.2:g.954244_954245insGTATATA

Select item 149116620416.

rs1491166204 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CATAAT,CATAT,G,T,TAATAT,TAT,TTAT [Show Flanks]
Chromosome:: 13:92347901 (GRCh38)
13:93000155 (GRCh37)
Canonical SPDI:: NC_000013.11:92347901::C,NC_000013.11:92347901::CATAAT,NC_000013.11:92347901::CATAT,NC_000013.11:92347901::G,NC_000013.11:92347901::T,NC_000013.11:92347901::TAATAT,NC_000013.11:92347901::TAT,NC_000013.11:92347901::TTAT
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATAAT=0./0 (ALFA)
T=0.00031/4 (GnomAD)
T=0.0011/14 (TOMMO)
HGVS:: NC_000013.11:g.92347901_92347902insC, NC_000013.11:g.92347901_92347902insCATAAT, NC_000013.11:g.92347901_92347902insCATAT, NC_000013.11:g.92347901_92347902insG, NC_000013.11:g.92347901_92347902insT, NC_000013.11:g.92347901_92347902insTAATAT, NC_000013.11:g.92347901_92347902insTAT, NC_000013.11:g.92347901_92347902insTTAT, NC_000013.10:g.93000154_93000155insC, NC_000013.10:g.93000154_93000155insCATAAT, NC_000013.10:g.93000154_93000155insCATAT, NC_000013.10:g.93000154_93000155insG, NC_000013.10:g.93000154_93000155insT, NC_000013.10:g.93000154_93000155insTAATAT, NC_000013.10:g.93000154_93000155insTAT, NC_000013.10:g.93000154_93000155insTTAT, NG_009370.2:g.954221_954222insC, NG_009370.2:g.954221_954222insCATAAT, NG_009370.2:g.954221_954222insCATAT, NG_009370.2:g.954221_954222insG, NG_009370.2:g.954221_954222insT, NG_009370.2:g.954221_954222insTAATAT, NG_009370.2:g.954221_954222insTAT, NG_009370.2:g.954221_954222insTTAT

Select item 149106613917.

rs1491066139 has merged into rs751716936 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 13:92342638 (GRCh38)
13:92994891 (GRCh37)
Canonical SPDI:: NC_000013.11:92342636:TTT:T,NC_000013.11:92342636:TTT:TT,NC_000013.11:92342636:TTT:TTTT
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.000858/14 (ALFA)
T=0.000071/1 (TOMMO)
T=0.000468/3 (1000Genomes)
T=0.000549/1 (Korea1K)
T=0.000596/83 (GnomAD)
T=0.001119/5 (Estonian)
HGVS:: NC_000013.11:g.92342638_92342639del, NC_000013.11:g.92342639del, NC_000013.11:g.92342639dup, NC_000013.10:g.92994891_92994892del, NC_000013.10:g.92994892del, NC_000013.10:g.92994892dup, NG_009370.2:g.948958_948959del, NG_009370.2:g.948959del, NG_009370.2:g.948959dup

Select item 149105885318.

rs1491058853 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT,CCT [Show Flanks]
Chromosome:: 13:92347913 (GRCh38)
13:93000167 (GRCh37)
Canonical SPDI:: NC_000013.11:92347913::AT,NC_000013.11:92347913::CCT
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCT=0./0 (ALFA)
HGVS:: NC_000013.11:g.92347913_92347914insAT, NC_000013.11:g.92347913_92347914insCCT, NC_000013.10:g.93000166_93000167insAT, NC_000013.10:g.93000166_93000167insCCT, NG_009370.2:g.954233_954234insAT, NG_009370.2:g.954233_954234insCCT

Select item 149104314519.

rs1491043145 has merged into rs1393230201 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 13:92347921 (GRCh38)
13:93000174 (GRCh37)
Canonical SPDI:: NC_000013.11:92347912:ATATATATATAT:ATATATAT,NC_000013.11:92347912:ATATATATATAT:ATATATATAT,NC_000013.11:92347912:ATATATATATAT:ATATATATATATAT
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATATAT=0./0 (ALFA)
HGVS:: NC_000013.11:g.92347913AT[4], NC_000013.11:g.92347913AT[5], NC_000013.11:g.92347913AT[7], NC_000013.10:g.93000166AT[4], NC_000013.10:g.93000166AT[5], NC_000013.10:g.93000166AT[7], NG_009370.2:g.954233AT[4], NG_009370.2:g.954233AT[5], NG_009370.2:g.954233AT[7]

Select item 149100479320.

rs1491004793 has merged into rs554346564 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 13:92348025 (GRCh38)
13:93000278 (GRCh37)
Canonical SPDI:: NC_000013.11:92348016:AAAAAAAAAAAAA:AAAAAAAA,NC_000013.11:92348016:AAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:92348016:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:92348016:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:92348016:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:92348016:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:92348016:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: GPC5 (Varview), GPC5-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.00115/19 (TOMMO)
-=0.02025/99 (1000Genomes)
HGVS:: NC_000013.11:g.92348025_92348029del, NC_000013.11:g.92348026_92348029del, NC_000013.11:g.92348027_92348029del, NC_000013.11:g.92348028_92348029del, NC_000013.11:g.92348029del, NC_000013.11:g.92348029dup, NC_000013.11:g.92348028_92348029dup, NC_000013.10:g.93000278_93000282del, NC_000013.10:g.93000279_93000282del, NC_000013.10:g.93000280_93000282del, NC_000013.10:g.93000281_93000282del, NC_000013.10:g.93000282del, NC_000013.10:g.93000282dup, NC_000013.10:g.93000281_93000282dup, NG_009370.2:g.954345_954349del, NG_009370.2:g.954346_954349del, NG_009370.2:g.954347_954349del, NG_009370.2:g.954348_954349del, NG_009370.2:g.954349del, NG_009370.2:g.954349dup, NG_009370.2:g.954348_954349dup

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dbSNP

Result Filters

Validation Status

Publication

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