SNP Links for Gene (Select 6578) - SNP

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Select item 14915142591.

rs1491514259 has merged into rs146731617 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACAC>-,AC,ACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 3:134029484 (GRCh38)
3:133748328 (GRCh37)
Canonical SPDI:: NC_000003.12:134029473:ACACACACACACACAC:ACACACACAC,NC_000003.12:134029473:ACACACACACACACAC:ACACACACACAC,NC_000003.12:134029473:ACACACACACACACAC:ACACACACACACAC,NC_000003.12:134029473:ACACACACACACACAC:ACACACACACACACACAC,NC_000003.12:134029473:ACACACACACACACAC:ACACACACACACACACACAC,NC_000003.12:134029473:ACACACACACACACAC:ACACACACACACACACACACAC,NC_000003.12:134029473:ACACACACACACACAC:ACACACACACACACACACACACAC,NC_000003.12:134029473:ACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000003.12:134029473:ACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000003.12:134029473:ACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000003.12:134029473:ACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000003.12:134029473:ACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000003.12:134029473:ACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACAC=0./0 (ALFA)
HGVS:: NC_000003.12:g.134029474AC[5], NC_000003.12:g.134029474AC[6], NC_000003.12:g.134029474AC[7], NC_000003.12:g.134029474AC[9], NC_000003.12:g.134029474AC[10], NC_000003.12:g.134029474AC[11], NC_000003.12:g.134029474AC[12], NC_000003.12:g.134029474AC[13], NC_000003.12:g.134029474AC[14], NC_000003.12:g.134029474AC[15], NC_000003.12:g.134029474AC[16], NC_000003.12:g.134029474AC[17], NC_000003.12:g.134029474AC[18], NC_000003.11:g.133748318AC[5], NC_000003.11:g.133748318AC[6], NC_000003.11:g.133748318AC[7], NC_000003.11:g.133748318AC[9], NC_000003.11:g.133748318AC[10], NC_000003.11:g.133748318AC[11], NC_000003.11:g.133748318AC[12], NC_000003.11:g.133748318AC[13], NC_000003.11:g.133748318AC[14], NC_000003.11:g.133748318AC[15], NC_000003.11:g.133748318AC[16], NC_000003.11:g.133748318AC[17], NC_000003.11:g.133748318AC[18], NG_031964.3:g.27696GT[5], NG_031964.3:g.27696GT[6], NG_031964.3:g.27696GT[7], NG_031964.3:g.27696GT[9], NG_031964.3:g.27696GT[10], NG_031964.3:g.27696GT[11], NG_031964.3:g.27696GT[12], NG_031964.3:g.27696GT[13], NG_031964.3:g.27696GT[14], NG_031964.3:g.27696GT[15], NG_031964.3:g.27696GT[16], NG_031964.3:g.27696GT[17], NG_031964.3:g.27696GT[18]

Select item 14914874902.

rs1491487490 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:134010751 (GRCh38)
3:133729595 (GRCh37)
Canonical SPDI:: NC_000003.12:134010750:CA:
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.07503/890 (ALFA)
-=0.00957/158 (TOMMO)
HGVS:: NC_000003.12:g.134010751_134010752del, NC_000003.11:g.133729595_133729596del, NG_031964.3:g.46433_46434del

Select item 14914688563.

rs1491468856 has merged into rs57260052 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:134010762 (GRCh38)
3:133729606 (GRCh37)
Canonical SPDI:: NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:134010751:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.115/576 (1000Genomes)
HGVS:: NC_000003.12:g.134010762_134010771del, NC_000003.12:g.134010765_134010771del, NC_000003.12:g.134010766_134010771del, NC_000003.12:g.134010767_134010771del, NC_000003.12:g.134010768_134010771del, NC_000003.12:g.134010769_134010771del, NC_000003.12:g.134010770_134010771del, NC_000003.12:g.134010771del, NC_000003.12:g.134010771dup, NC_000003.12:g.134010769_134010771dup, NC_000003.12:g.134010768_134010771dup, NC_000003.12:g.134010767_134010771dup, NC_000003.12:g.134010766_134010771dup, NC_000003.12:g.134010765_134010771dup, NC_000003.12:g.134010764_134010771dup, NC_000003.12:g.134010763_134010771dup, NC_000003.12:g.134010762_134010771dup, NC_000003.12:g.134010761_134010771dup, NC_000003.12:g.134010760_134010771dup, NC_000003.12:g.134010759_134010771dup, NC_000003.12:g.134010758_134010771dup, NC_000003.12:g.134010755_134010771dup, NC_000003.11:g.133729606_133729615del, NC_000003.11:g.133729609_133729615del, NC_000003.11:g.133729610_133729615del, NC_000003.11:g.133729611_133729615del, NC_000003.11:g.133729612_133729615del, NC_000003.11:g.133729613_133729615del, NC_000003.11:g.133729614_133729615del, NC_000003.11:g.133729615del, NC_000003.11:g.133729615dup, NC_000003.11:g.133729613_133729615dup, NC_000003.11:g.133729612_133729615dup, NC_000003.11:g.133729611_133729615dup, NC_000003.11:g.133729610_133729615dup, NC_000003.11:g.133729609_133729615dup, NC_000003.11:g.133729608_133729615dup, NC_000003.11:g.133729607_133729615dup, NC_000003.11:g.133729606_133729615dup, NC_000003.11:g.133729605_133729615dup, NC_000003.11:g.133729604_133729615dup, NC_000003.11:g.133729603_133729615dup, NC_000003.11:g.133729602_133729615dup, NC_000003.11:g.133729599_133729615dup, NG_031964.3:g.46424_46433del, NG_031964.3:g.46427_46433del, NG_031964.3:g.46428_46433del, NG_031964.3:g.46429_46433del, NG_031964.3:g.46430_46433del, NG_031964.3:g.46431_46433del, NG_031964.3:g.46432_46433del, NG_031964.3:g.46433del, NG_031964.3:g.46433dup, NG_031964.3:g.46431_46433dup, NG_031964.3:g.46430_46433dup, NG_031964.3:g.46429_46433dup, NG_031964.3:g.46428_46433dup, NG_031964.3:g.46427_46433dup, NG_031964.3:g.46426_46433dup, NG_031964.3:g.46425_46433dup, NG_031964.3:g.46424_46433dup, NG_031964.3:g.46423_46433dup, NG_031964.3:g.46422_46433dup, NG_031964.3:g.46421_46433dup, NG_031964.3:g.46420_46433dup, NG_031964.3:g.46417_46433dup

Select item 14912702934.

rs1491270293 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 3:134029490 (GRCh38)
3:133748334 (GRCh37)
Canonical SPDI:: NC_000003.12:134029488:CTC:C
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00489/58 (ALFA)
-=0.003333/2 (NorthernSweden)
-=0.005684/688 (GnomAD)
HGVS:: NC_000003.12:g.134029490_134029491del, NC_000003.11:g.133748334_133748335del, NG_031964.3:g.27695_27696del

Select item 14912658535.

rs1491265853 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC,ACAC,ACACAC,ACACACACAC,ACACACACACAC [Show Flanks]
Chromosome:: 3:134029474 (GRCh38)
3:133748319 (GRCh37)
Canonical SPDI:: NC_000003.12:134029474::AC,NC_000003.12:134029474::ACAC,NC_000003.12:134029474::ACACAC,NC_000003.12:134029474::ACACACACAC,NC_000003.12:134029474::ACACACACACAC
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.134029474_134029475insAC, NC_000003.12:g.134029474_134029475insACAC, NC_000003.12:g.134029474_134029475insACACAC, NC_000003.12:g.134029474_134029475insACACACACAC, NC_000003.12:g.134029474_134029475insACACACACACAC, NC_000003.11:g.133748318_133748319insAC, NC_000003.11:g.133748318_133748319insACAC, NC_000003.11:g.133748318_133748319insACACAC, NC_000003.11:g.133748318_133748319insACACACACAC, NC_000003.11:g.133748318_133748319insACACACACACAC, NG_031964.3:g.27710_27711insGT, NG_031964.3:g.27710_27711insGTGT, NG_031964.3:g.27710_27711insGTGTGT, NG_031964.3:g.27710_27711insGTGTGTGTGT, NG_031964.3:g.27710_27711insGTGTGTGTGTGT

Select item 14912603026.

rs1491260302 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:133981974 (GRCh38)
3:133700818 (GRCh37)
Canonical SPDI:: NC_000003.12:133981973:CA:
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00211/25 (ALFA)
-=0.00063/17 (TOMMO)
HGVS:: NC_000003.12:g.133981974_133981975del, NC_000003.11:g.133700818_133700819del, NG_031964.3:g.75210_75211del

Select item 14912408477.

rs1491240847 has merged into rs34863339 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:133981986 (GRCh38)
3:133700830 (GRCh37)
Canonical SPDI:: NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133981974:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.133981986_133981994del, NC_000003.12:g.133981988_133981994del, NC_000003.12:g.133981990_133981994del, NC_000003.12:g.133981991_133981994del, NC_000003.12:g.133981992_133981994del, NC_000003.12:g.133981993_133981994del, NC_000003.12:g.133981994del, NC_000003.12:g.133981994dup, NC_000003.12:g.133981993_133981994dup, NC_000003.12:g.133981992_133981994dup, NC_000003.12:g.133981991_133981994dup, NC_000003.12:g.133981990_133981994dup, NC_000003.12:g.133981989_133981994dup, NC_000003.12:g.133981988_133981994dup, NC_000003.12:g.133981981_133981994dup, NC_000003.12:g.133981979_133981994dup, NC_000003.12:g.133981994_133981995insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.133981994_133981995insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.133700830_133700838del, NC_000003.11:g.133700832_133700838del, NC_000003.11:g.133700834_133700838del, NC_000003.11:g.133700835_133700838del, NC_000003.11:g.133700836_133700838del, NC_000003.11:g.133700837_133700838del, NC_000003.11:g.133700838del, NC_000003.11:g.133700838dup, NC_000003.11:g.133700837_133700838dup, NC_000003.11:g.133700836_133700838dup, NC_000003.11:g.133700835_133700838dup, NC_000003.11:g.133700834_133700838dup, NC_000003.11:g.133700833_133700838dup, NC_000003.11:g.133700832_133700838dup, NC_000003.11:g.133700825_133700838dup, NC_000003.11:g.133700823_133700838dup, NC_000003.11:g.133700838_133700839insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.133700838_133700839insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_031964.3:g.75202_75210del, NG_031964.3:g.75204_75210del, NG_031964.3:g.75206_75210del, NG_031964.3:g.75207_75210del, NG_031964.3:g.75208_75210del, NG_031964.3:g.75209_75210del, NG_031964.3:g.75210del, NG_031964.3:g.75210dup, NG_031964.3:g.75209_75210dup, NG_031964.3:g.75208_75210dup, NG_031964.3:g.75207_75210dup, NG_031964.3:g.75206_75210dup, NG_031964.3:g.75205_75210dup, NG_031964.3:g.75204_75210dup, NG_031964.3:g.75197_75210dup, NG_031964.3:g.75195_75210dup, NG_031964.3:g.75210_75211insTTTTTTTTTTTTTTTTTTTTTTT, NG_031964.3:g.75210_75211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910843248.

rs1491084324 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACGC [Show Flanks]
Chromosome:: 3:134029536 (GRCh38)
3:133748381 (GRCh37)
Canonical SPDI:: NC_000003.12:134029536:C:CACGC
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: CACG=0.000022/3 (GnomAD)
CACG=0.000106/2 (TOMMO)
CACG=0.000546/1 (Korea1K)
HGVS:: NC_000003.12:g.134029537_134029538insACGC, NC_000003.11:g.133748381_133748382insACGC, NG_031964.3:g.27648_27649insCGTG

Select item 14910382359.

rs1491038235 has merged into rs139999843 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG,TGTGTG [Show Flanks]
Chromosome:: 3:133944990 (GRCh38)
3:133663834 (GRCh37)
Canonical SPDI:: NC_000003.12:133944980:GTGTGTGTGTG:GTGTGTGTG,NC_000003.12:133944980:GTGTGTGTGTG:GTGTGTGTGTGTG,NC_000003.12:133944980:GTGTGTGTGTG:GTGTGTGTGTGTGTG
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTG=0./0 (ALFA)
GT=0.12264/26 (Vietnamese)
GT=0.23119/3875 (TOMMO)
GT=0.24578/1231 (1000Genomes)
GT=0.34554/1548 (Estonian)
GT=0.375/15 (GENOME_DK)
GT=0.38477/384 (GoNL)
GT=0.40374/1556 (ALSPAC)
GT=0.41532/1540 (TWINSUK)
GT=0.46833/281 (NorthernSweden)
HGVS:: NC_000003.12:g.133944982TG[4], NC_000003.12:g.133944982TG[6], NC_000003.12:g.133944982TG[7], NC_000003.11:g.133663826TG[4], NC_000003.11:g.133663826TG[6], NC_000003.11:g.133663826TG[7], NG_031964.3:g.112195AC[4], NG_031964.3:g.112195AC[6], NG_031964.3:g.112195AC[7], NG_077316.1:g.2TG[5], NG_077316.1:g.2TG[4], NG_077316.1:g.2TG[6], NG_077316.1:g.2TG[7]

Select item 149099625810.

rs1490996258 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:133986135 (GRCh38)
3:133704979 (GRCh37)
Canonical SPDI:: NC_000003.12:133986134:T:A,NC_000003.12:133986134:T:C
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000003.12:g.133986135T>A, NC_000003.12:g.133986135T>C, NC_000003.11:g.133704979T>A, NC_000003.11:g.133704979T>C, NG_031964.3:g.71050A>T, NG_031964.3:g.71050A>G

Select item 149099314111.

rs1490993141 [Homo sapiens]

Variant type:: DEL
Alleles:: AACTCCAATA>- [Show Flanks]
Chromosome:: 3:133971715 (GRCh38)
3:133690559 (GRCh37)
Canonical SPDI:: NC_000003.12:133971714:AACTCCAATA:
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.133971715_133971724del, NC_000003.11:g.133690559_133690568del, NG_031964.3:g.85461_85470del

Select item 149098993112.

rs1490989931 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 3:133979513 (GRCh38)
3:133698357 (GRCh37)
Canonical SPDI:: NC_000003.12:133979512:AA:A
Gene:: SLCO2A1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000003.12:g.133979514del, NC_000003.11:g.133698358del, NG_031964.3:g.77672del, NM_005630.3:c.202del, NM_005630.2:c.202del, NP_005621.2:p.Ser68fs

Select item 149096782913.

rs1490967829 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACTGG [Show Flanks]
Chromosome:: 3:133991924 (GRCh38)
3:133710769 (GRCh37)
Canonical SPDI:: NC_000003.12:133991924:GGACTGG:GGACTGGACTGG
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGACTGGACTGG=0./0 (ALFA)
HGVS:: NC_000003.12:g.133991927_133991931dup, NC_000003.11:g.133710771_133710775dup, NG_031964.3:g.65256_65260dup

Select item 149096174614.

rs1490961746 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 3:134025180 (GRCh38)
3:133744024 (GRCh37)
Canonical SPDI:: NC_000003.12:134025179:A:
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.134025180del, NC_000003.11:g.133744024del, NG_031964.3:g.32005del

Select item 149094475715.

rs1490944757 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:134027341 (GRCh38)
3:133746186 (GRCh37)
Canonical SPDI:: NC_000003.12:134027341:A:AA
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.134027342dup, NC_000003.11:g.133746186dup, NG_031964.3:g.29843dup

Select item 149088543716.

rs1490885437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:133946640 (GRCh38)
3:133665484 (GRCh37)
Canonical SPDI:: NC_000003.12:133946639:G:C
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.133946640G>C, NC_000003.11:g.133665484G>C, NG_031964.3:g.110545C>G

Select item 149086011817.

rs1490860118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:133947796 (GRCh38)
3:133666640 (GRCh37)
Canonical SPDI:: NC_000003.12:133947795:T:C
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.133947796T>C, NC_000003.11:g.133666640T>C, NG_031964.3:g.109389A>G

Select item 149084974618.

rs1490849746 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 3:134011108 (GRCh38)
3:133729952 (GRCh37)
Canonical SPDI:: NC_000003.12:134011107:T:
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.134011108del, NC_000003.11:g.133729952del, NG_031964.3:g.46077del

Select item 149084819119.

rs1490848191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:133934285 (GRCh38)
3:133653129 (GRCh37)
Canonical SPDI:: NC_000003.12:133934284:C:G,NC_000003.12:133934284:C:T
Gene:: SLCO2A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
HGVS:: NC_000003.12:g.133934285C>G, NC_000003.12:g.133934285C>T, NC_000003.11:g.133653129C>G, NC_000003.11:g.133653129C>T, NG_031964.3:g.122900G>C, NG_031964.3:g.122900G>A, NM_005630.3:c.*428G>C, NM_005630.3:c.*428G>A, NM_005630.2:c.*428G>C, NM_005630.2:c.*428G>A

Select item 149079755520.

rs1490797555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:134019030 (GRCh38)
3:133737874 (GRCh37)
Canonical SPDI:: NC_000003.12:134019029:T:A,NC_000003.12:134019029:T:C
Gene:: SLCO2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.134019030T>A, NC_000003.12:g.134019030T>C, NC_000003.11:g.133737874T>A, NC_000003.11:g.133737874T>C, NG_031964.3:g.38155A>T, NG_031964.3:g.38155A>G

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