SNP Links for Gene (Select 2687) - SNP

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Select item 14915547241.

rs1491554724 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GA,GAA,GAAA,GAAAA,GAAAAA,GG,T [Show Flanks]
Chromosome:: 22:24241157 (GRCh38)
22:24637126 (GRCh37)
Canonical SPDI:: NC_000022.11:24241157::G,NC_000022.11:24241157::GA,NC_000022.11:24241157::GAA,NC_000022.11:24241157::GAAA,NC_000022.11:24241157::GAAAA,NC_000022.11:24241157::GAAAAA,NC_000022.11:24241157::GG,NC_000022.11:24241157::T
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GA=0./0 (ALFA)
HGVS:: NC_000022.11:g.24241157_24241158insG, NC_000022.11:g.24241157_24241158insGA, NC_000022.11:g.24241157_24241158insGAA, NC_000022.11:g.24241157_24241158insGAAA, NC_000022.11:g.24241157_24241158insGAAAA, NC_000022.11:g.24241157_24241158insGAAAAA, NC_000022.11:g.24241157_24241158insGG, NC_000022.11:g.24241157_24241158insT, NC_000022.10:g.24637125_24637126insG, NC_000022.10:g.24637125_24637126insGA, NC_000022.10:g.24637125_24637126insGAA, NC_000022.10:g.24637125_24637126insGAAA, NC_000022.10:g.24637125_24637126insGAAAA, NC_000022.10:g.24637125_24637126insGAAAAA, NC_000022.10:g.24637125_24637126insGG, NC_000022.10:g.24637125_24637126insT

Select item 14915095932.

rs1491509593 has merged into rs869028949 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ACA,ACAA,ACACA [Show Flanks]
Chromosome:: 22:24244316 (GRCh38)
22:24640285 (GRCh37)
Canonical SPDI:: NC_000022.11:24244316::A,NC_000022.11:24244316::ACA,NC_000022.11:24244316::ACAA,NC_000022.11:24244316::ACACA
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAA=0./0 (ALFA)
A=0.16763/2808 (TOMMO)
A=0.21561/395 (Korea1K)
HGVS:: NC_000022.11:g.24244316_24244317insA, NC_000022.11:g.24244316_24244317insACA, NC_000022.11:g.24244316_24244317insACAA, NC_000022.11:g.24244316_24244317insACACA, NC_000022.10:g.24640284_24640285insA, NC_000022.10:g.24640284_24640285insACA, NC_000022.10:g.24640284_24640285insACAA, NC_000022.10:g.24640284_24640285insACACA

Select item 14915090163.

rs1491509016 has merged into rs59505687 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT [Show Flanks]
Chromosome:: 22:24238890 (GRCh38)
22:24634858 (GRCh37)
Canonical SPDI:: NC_000022.11:24238888:TTTT:T,NC_000022.11:24238888:TTTT:TT,NC_000022.11:24238888:TTTT:TTT
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.24238890_24238892del, NC_000022.11:g.24238891_24238892del, NC_000022.11:g.24238892del, NC_000022.10:g.24634858_24634860del, NC_000022.10:g.24634859_24634860del, NC_000022.10:g.24634860del

Select item 14914871894.

rs1491487189 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AATA,ATA,ATTA [Show Flanks]
Chromosome:: 22:24238855 (GRCh38)
22:24634824 (GRCh37)
Canonical SPDI:: NC_000022.11:24238855::A,NC_000022.11:24238855::AA,NC_000022.11:24238855::AATA,NC_000022.11:24238855::ATA,NC_000022.11:24238855::ATTA
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AATA=0.00007/1 (TOMMO)
A=0.00009/1 (GnomAD)
HGVS:: NC_000022.11:g.24238855_24238856insA, NC_000022.11:g.24238855_24238856insAA, NC_000022.11:g.24238855_24238856insAATA, NC_000022.11:g.24238855_24238856insATA, NC_000022.11:g.24238855_24238856insATTA, NC_000022.10:g.24634823_24634824insA, NC_000022.10:g.24634823_24634824insAA, NC_000022.10:g.24634823_24634824insAATA, NC_000022.10:g.24634823_24634824insATA, NC_000022.10:g.24634823_24634824insATTA

Select item 14914849165.

rs1491484916 has merged into rs35060391 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:24237016 (GRCh38)
22:24632984 (GRCh37)
Canonical SPDI:: NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:24237007:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.104/401 (ALSPAC)
-=0.2772/1388 (1000Genomes)
HGVS:: NC_000022.11:g.24237016_24237024del, NC_000022.11:g.24237020_24237024del, NC_000022.11:g.24237021_24237024del, NC_000022.11:g.24237022_24237024del, NC_000022.11:g.24237023_24237024del, NC_000022.11:g.24237024del, NC_000022.11:g.24237008_24237024T[17]CTTTTTTTTTTTTTTTTTT[1], NC_000022.11:g.24237008_24237024T[17]CTTTTTTTTTTTTTTTTTTT[1], NC_000022.11:g.24237008_24237024T[17]CTTTTTTTTTTTTTTTTTTTT[1], NC_000022.11:g.24237024dup, NC_000022.11:g.24237008_24237024T[18]CTTTTTTTTTTTTTTTTTT[1], NC_000022.11:g.24237008_24237024T[18]CTTTTTTTTTTTTTTTTTTT[1], NC_000022.11:g.24237008_24237024T[18]CTTTTTTTTTTTTTTTTTTTT[1], NC_000022.11:g.24237008_24237024T[18]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000022.11:g.24237023_24237024dup, NC_000022.11:g.24237008_24237024T[19]CTTTTTTTTTTTTTTTTTT[1], NC_000022.11:g.24237008_24237024T[19]CTTTTTTTTTTTTTTTTTTT[1], NC_000022.11:g.24237008_24237024T[19]CTTTTTTTTTTTTTTTTTTTT[1], NC_000022.11:g.24237008_24237024T[19]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000022.11:g.24237020_24237024dup, NC_000022.11:g.24237024_24237025insTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.24237024_24237025insTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.24237024_24237025insTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.24237024_24237025insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.24632984_24632992del, NC_000022.10:g.24632988_24632992del, NC_000022.10:g.24632989_24632992del, NC_000022.10:g.24632990_24632992del, NC_000022.10:g.24632991_24632992del, NC_000022.10:g.24632992del, NC_000022.10:g.24632976_24632992T[17]CTTTTTTTTTTTTTTTTTT[1], NC_000022.10:g.24632976_24632992T[17]CTTTTTTTTTTTTTTTTTTT[1], NC_000022.10:g.24632976_24632992T[17]CTTTTTTTTTTTTTTTTTTTT[1], NC_000022.10:g.24632992dup, NC_000022.10:g.24632976_24632992T[18]CTTTTTTTTTTTTTTTTTT[1], NC_000022.10:g.24632976_24632992T[18]CTTTTTTTTTTTTTTTTTTT[1], NC_000022.10:g.24632976_24632992T[18]CTTTTTTTTTTTTTTTTTTTT[1], NC_000022.10:g.24632976_24632992T[18]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000022.10:g.24632991_24632992dup, NC_000022.10:g.24632976_24632992T[19]CTTTTTTTTTTTTTTTTTT[1], NC_000022.10:g.24632976_24632992T[19]CTTTTTTTTTTTTTTTTTTT[1], NC_000022.10:g.24632976_24632992T[19]CTTTTTTTTTTTTTTTTTTTT[1], NC_000022.10:g.24632976_24632992T[19]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000022.10:g.24632988_24632992dup, NC_000022.10:g.24632992_24632993insTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.24632992_24632993insTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.24632992_24632993insTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.24632992_24632993insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914728266.

rs1491472826 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:24238855 (GRCh38)
22:24634823 (GRCh37)
Canonical SPDI:: NC_000022.11:24238854:TT:
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00224/33 (GnomAD)
HGVS:: NC_000022.11:g.24238855_24238856del, NC_000022.10:g.24634823_24634824del

Select item 14914620857.

rs1491462085 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AATA,AATATATATTATATAATATATATA,ATA,ATAA,ATATTA,ATTA,GTGTGTG [Show Flanks]
Chromosome:: 22:24238915 (GRCh38)
22:24634884 (GRCh37)
Canonical SPDI:: NC_000022.11:24238915::A,NC_000022.11:24238915::AA,NC_000022.11:24238915::AATA,NC_000022.11:24238915::AATATATATTATATAATATATATA,NC_000022.11:24238915::ATA,NC_000022.11:24238915::ATAA,NC_000022.11:24238915::ATATTA,NC_000022.11:24238915::ATTA,NC_000022.11:24238915::GTGTGTG
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000022.11:g.24238915_24238916insA, NC_000022.11:g.24238915_24238916insAA, NC_000022.11:g.24238915_24238916insAATA, NC_000022.11:g.24238915_24238916insAATATATATTATATAATATATATA, NC_000022.11:g.24238915_24238916insATA, NC_000022.11:g.24238915_24238916insATAA, NC_000022.11:g.24238915_24238916insATATTA, NC_000022.11:g.24238915_24238916insATTA, NC_000022.11:g.24238915_24238916insGTGTGTG, NC_000022.10:g.24634883_24634884insA, NC_000022.10:g.24634883_24634884insAA, NC_000022.10:g.24634883_24634884insAATA, NC_000022.10:g.24634883_24634884insAATATATATTATATAATATATATA, NC_000022.10:g.24634883_24634884insATA, NC_000022.10:g.24634883_24634884insATAA, NC_000022.10:g.24634883_24634884insATATTA, NC_000022.10:g.24634883_24634884insATTA, NC_000022.10:g.24634883_24634884insGTGTGTG

Select item 14914553778.

rs1491455377 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:24238906 (GRCh38)
22:24634874 (GRCh37)
Canonical SPDI:: NC_000022.11:24238905:TT:
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00098/13 (TOMMO)
-=0.05018/684 (GnomAD)
HGVS:: NC_000022.11:g.24238906_24238907del, NC_000022.10:g.24634874_24634875del

Select item 14914334219.

rs1491433421 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AATATATATAATATATATTATATATTTTATATATATATATATTA,ATTA [Show Flanks]
Chromosome:: 22:24238906 (GRCh38)
22:24634875 (GRCh37)
Canonical SPDI:: NC_000022.11:24238906::A,NC_000022.11:24238906::AA,NC_000022.11:24238906::AATATATATAATATATATTATATATTTTATATATATATATATTA,NC_000022.11:24238906::ATTA
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTA=0./0 (ALFA)
A=0.01717/234 (TOMMO)
HGVS:: NC_000022.11:g.24238906_24238907insA, NC_000022.11:g.24238906_24238907insAA, NC_000022.11:g.24238906_24238907insAATATATATAATATATATTATATATTTTATATATATATATATTA, NC_000022.11:g.24238906_24238907insATTA, NC_000022.10:g.24634874_24634875insA, NC_000022.10:g.24634874_24634875insAA, NC_000022.10:g.24634874_24634875insAATATATATAATATATATTATATATTTTATATATATATATATTA, NC_000022.10:g.24634874_24634875insATTA

Select item 149134856010.

rs1491348560 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAAT,TATAAT,TATT,TTAT [Show Flanks]
Chromosome:: 22:24238865 (GRCh38)
22:24634834 (GRCh37)
Canonical SPDI:: NC_000022.11:24238865::T,NC_000022.11:24238865::TAAT,NC_000022.11:24238865::TATAAT,NC_000022.11:24238865::TATT,NC_000022.11:24238865::TTAT
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAT=0./0 (ALFA)
T=0.00048/4 (GnomAD)
HGVS:: NC_000022.11:g.24238865_24238866insT, NC_000022.11:g.24238865_24238866insTAAT, NC_000022.11:g.24238865_24238866insTATAAT, NC_000022.11:g.24238865_24238866insTATT, NC_000022.11:g.24238865_24238866insTTAT, NC_000022.10:g.24634833_24634834insT, NC_000022.10:g.24634833_24634834insTAAT, NC_000022.10:g.24634833_24634834insTATAAT, NC_000022.10:g.24634833_24634834insTATT, NC_000022.10:g.24634833_24634834insTTAT

Select item 149133543311.

rs1491335433 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AAA,ACA,ACACA,ACACCCACACATACACATACCCACACACAATCACACACATTCACACA,T [Show Flanks]
Chromosome:: 22:24244317 (GRCh38)
22:24640286 (GRCh37)
Canonical SPDI:: NC_000022.11:24244317::A,NC_000022.11:24244317::AAA,NC_000022.11:24244317::ACA,NC_000022.11:24244317::ACACA,NC_000022.11:24244317::ACACCCACACATACACATACCCACACACAATCACACACATTCACACA,NC_000022.11:24244317::T
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000022.11:g.24244317_24244318insA, NC_000022.11:g.24244317_24244318insAAA, NC_000022.11:g.24244317_24244318insACA, NC_000022.11:g.24244317_24244318insACACA, NC_000022.11:g.24244317_24244318insACACCCACACATACACATACCCACACACAATCACACACATTCACACA, NC_000022.11:g.24244317_24244318insT, NC_000022.10:g.24640285_24640286insA, NC_000022.10:g.24640285_24640286insAAA, NC_000022.10:g.24640285_24640286insACA, NC_000022.10:g.24640285_24640286insACACA, NC_000022.10:g.24640285_24640286insACACCCACACATACACATACCCACACACAATCACACACATTCACACA, NC_000022.10:g.24640285_24640286insT

Select item 149130577512.

rs1491305775 has merged into rs1247190516 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: 22:24238713 (GRCh38)
22:24634681 (GRCh37)
Canonical SPDI:: NC_000022.11:24238703:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:24238703:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:24238703:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:24238703:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:24238703:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:24238703:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.24238713_24238718del, NC_000022.11:g.24238715_24238718del, NC_000022.11:g.24238716_24238718del, NC_000022.11:g.24238717_24238718del, NC_000022.11:g.24238718del, NC_000022.11:g.24238718dup, NC_000022.10:g.24634681_24634686del, NC_000022.10:g.24634683_24634686del, NC_000022.10:g.24634684_24634686del, NC_000022.10:g.24634685_24634686del, NC_000022.10:g.24634686del, NC_000022.10:g.24634686dup

Select item 149129462913.

rs1491294629 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:24238915 (GRCh38)
22:24634883 (GRCh37)
Canonical SPDI:: NC_000022.11:24238914:TT:
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00007/1 (GnomAD)
HGVS:: NC_000022.11:g.24238915_24238916del, NC_000022.10:g.24634883_24634884del

Select item 149125605914.

rs1491256059 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATAA [Show Flanks]
Chromosome:: 22:24238889 (GRCh38)
22:24634858 (GRCh37)
Canonical SPDI:: NC_000022.11:24238889::A,NC_000022.11:24238889::ATA,NC_000022.11:24238889::ATATAA
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAA=0./0 (ALFA)
A=0.00004/1 (TOMMO)
A=0.00012/1 (GnomAD)
HGVS:: NC_000022.11:g.24238889_24238890insA, NC_000022.11:g.24238889_24238890insATA, NC_000022.11:g.24238889_24238890insATATAA, NC_000022.10:g.24634857_24634858insA, NC_000022.10:g.24634857_24634858insATA, NC_000022.10:g.24634857_24634858insATATAA

Select item 149123061115.

rs1491230611 has merged into rs56774827 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 22:24238795 (GRCh38)
22:24634763 (GRCh37)
Canonical SPDI:: NC_000022.11:24238793:TTT:T,NC_000022.11:24238793:TTT:TT,NC_000022.11:24238793:TTT:TTTT
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.24238795_24238796del, NC_000022.11:g.24238796del, NC_000022.11:g.24238796dup, NC_000022.10:g.24634763_24634764del, NC_000022.10:g.24634764del, NC_000022.10:g.24634764dup

Select item 149121678016.

rs1491216780 [Homo sapiens]

Variant type:: INS
Alleles:: ->CACAAATACACAT [Show Flanks]
Chromosome:: 22:24244318 (GRCh38)
22:24640287 (GRCh37)
Canonical SPDI:: NC_000022.11:24244318::CACAAATACACAT
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: CACAAATACACAT=0.00296/200 (GnomAD)
HGVS:: NC_000022.11:g.24244318_24244319insCACAAATACACAT, NC_000022.10:g.24640286_24640287insCACAAATACACAT

Select item 149121225017.

rs1491212250 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:24238703 (GRCh38)
22:24634671 (GRCh37)
Canonical SPDI:: NC_000022.11:24238702:CA:
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.24238703_24238704del, NC_000022.10:g.24634671_24634672del

Select item 149120572518.

rs1491205725 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 22:24238865 (GRCh38)
22:24634833 (GRCh37)
Canonical SPDI:: NC_000022.11:24238864:AA:
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00098/9 (GnomAD)
HGVS:: NC_000022.11:g.24238865_24238866del, NC_000022.10:g.24634833_24634834del

Select item 149119280019.

rs1491192800 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA [Show Flanks]
Chromosome:: 22:24238833 (GRCh38)
22:24634802 (GRCh37)
Canonical SPDI:: NC_000022.11:24238833::A,NC_000022.11:24238833::ATA,NC_000022.11:24238833::ATATA
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.00009/1 (TOMMO)
A=0.01588/139 (GnomAD)
HGVS:: NC_000022.11:g.24238833_24238834insA, NC_000022.11:g.24238833_24238834insATA, NC_000022.11:g.24238833_24238834insATATA, NC_000022.10:g.24634801_24634802insA, NC_000022.10:g.24634801_24634802insATA, NC_000022.10:g.24634801_24634802insATATA

Select item 149118705520.

rs1491187055 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AAA,AATATATA,ATA,G [Show Flanks]
Chromosome:: 22:24238832 (GRCh38)
22:24634801 (GRCh37)
Canonical SPDI:: NC_000022.11:24238832::A,NC_000022.11:24238832::AAA,NC_000022.11:24238832::AATATATA,NC_000022.11:24238832::ATA,NC_000022.11:24238832::G
Gene:: GGT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.03061/6 (Korea1K)
A=0.13875/1491 (GnomAD)
HGVS:: NC_000022.11:g.24238832_24238833insA, NC_000022.11:g.24238832_24238833insAAA, NC_000022.11:g.24238832_24238833insAATATATA, NC_000022.11:g.24238832_24238833insATA, NC_000022.11:g.24238832_24238833insG, NC_000022.10:g.24634800_24634801insA, NC_000022.10:g.24634800_24634801insAAA, NC_000022.10:g.24634800_24634801insAATATATA, NC_000022.10:g.24634800_24634801insATA, NC_000022.10:g.24634800_24634801insG

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