SNP Links for Gene (Select 10599) - SNP

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Select item 14915738731.

rs1491573873 [Homo sapiens]

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

Select item 14915478702.

rs1491547870 has merged into rs34413949 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 12:21187676 (GRCh38)
12:21340610 (GRCh37)
Canonical SPDI:: NC_000012.12:21187668:AAAAAAAAAA:AAAAAAA,NC_000012.12:21187668:AAAAAAAAAA:AAAAAAAA,NC_000012.12:21187668:AAAAAAAAAA:AAAAAAAAA,NC_000012.12:21187668:AAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:21187668:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.24135/1137 (1000Genomes)
A=0.44432/814 (Korea1K)
HGVS:: NC_000012.12:g.21187676_21187678del, NC_000012.12:g.21187677_21187678del, NC_000012.12:g.21187678del, NC_000012.12:g.21187678dup, NC_000012.12:g.21187677_21187678dup, NC_000012.11:g.21340610_21340612del, NC_000012.11:g.21340611_21340612del, NC_000012.11:g.21340612del, NC_000012.11:g.21340612dup, NC_000012.11:g.21340611_21340612dup, NG_011745.1:g.61483_61485del, NG_011745.1:g.61484_61485del, NG_011745.1:g.61485del, NG_011745.1:g.61485dup, NG_011745.1:g.61484_61485dup

Select item 14915169933.

rs1491516993 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:21148695 (GRCh38)
12:21301629 (GRCh37)
Canonical SPDI:: NC_000012.12:21148694:CT:
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
HGVS:: NC_000012.12:g.21148695_21148696del, NC_000012.11:g.21301629_21301630del, NG_011745.1:g.22502_22503del

Select item 14914991914.

rs1491499191 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:21222371 (GRCh38)
12:21375305 (GRCh37)
Canonical SPDI:: NC_000012.12:21222370:TG:
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000012.12:g.21222371_21222372del, NC_000012.11:g.21375305_21375306del, NG_011745.1:g.96178_96179del

Select item 14914941425.

rs1491494142 has merged into rs4149095 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:21174731 (GRCh38)
12:21327665 (GRCh37)
Canonical SPDI:: NC_000012.12:21174718:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:21174718:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:21174718:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:21174718:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:21174718:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:21174718:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:21174718:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign-likely-benign,benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0.00054/8 (ALFA)
AA=0.42389/220 (1000Genomes)
HGVS:: NC_000012.12:g.21174731_21174732del, NC_000012.12:g.21174732del, NC_000012.12:g.21174732dup, NC_000012.12:g.21174731_21174732dup, NC_000012.12:g.21174730_21174732dup, NC_000012.12:g.21174729_21174732dup, NC_000012.12:g.21174721_21174732dup, NC_000012.11:g.21327665_21327666del, NC_000012.11:g.21327666del, NC_000012.11:g.21327666dup, NC_000012.11:g.21327665_21327666dup, NC_000012.11:g.21327664_21327666dup, NC_000012.11:g.21327663_21327666dup, NC_000012.11:g.21327655_21327666dup, NG_011745.1:g.48538_48539del, NG_011745.1:g.48539del, NG_011745.1:g.48539dup, NG_011745.1:g.48538_48539dup, NG_011745.1:g.48537_48539dup, NG_011745.1:g.48536_48539dup, NG_011745.1:g.48528_48539dup

Select item 14914927306.

rs1491492730 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 12:21184350 (GRCh38)
12:21337284 (GRCh37)
Canonical SPDI:: NC_000012.12:21184349:GGGGGG:GGGGG,NC_000012.12:21184349:GGGGGG:GGGGGGG
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.21184355del, NC_000012.12:g.21184355dup, NC_000012.11:g.21337289del, NC_000012.11:g.21337289dup, NG_011745.1:g.58162del, NG_011745.1:g.58162dup

Select item 14914510037.

rs1491451003 has merged into rs60313934 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:21233580 (GRCh38)
12:21386514 (GRCh37)
Canonical SPDI:: NC_000012.12:21233571:AAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:21233571:AAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:21233571:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:21233571:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:21233571:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:21233571:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:21233571:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:21233571:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:21233571:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:21233571:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:21233571:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:21233571:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21233571:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21233571:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21233571:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLCO1B1 (Varview), LOC124902895 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
-=0.39517/1979 (1000Genomes)
-=0.41573/740 (Korea1K)
HGVS:: NC_000012.12:g.21233580_21233584del, NC_000012.12:g.21233581_21233584del, NC_000012.12:g.21233582_21233584del, NC_000012.12:g.21233583_21233584del, NC_000012.12:g.21233584del, NC_000012.12:g.21233584dup, NC_000012.12:g.21233583_21233584dup, NC_000012.12:g.21233582_21233584dup, NC_000012.12:g.21233581_21233584dup, NC_000012.12:g.21233580_21233584dup, NC_000012.12:g.21233579_21233584dup, NC_000012.12:g.21233576_21233584dup, NC_000012.12:g.21233574_21233584dup, NC_000012.12:g.21233572_21233584dup, NC_000012.12:g.21233584_21233585insAAAAAAAAAAAAAA, NC_000012.11:g.21386514_21386518del, NC_000012.11:g.21386515_21386518del, NC_000012.11:g.21386516_21386518del, NC_000012.11:g.21386517_21386518del, NC_000012.11:g.21386518del, NC_000012.11:g.21386518dup, NC_000012.11:g.21386517_21386518dup, NC_000012.11:g.21386516_21386518dup, NC_000012.11:g.21386515_21386518dup, NC_000012.11:g.21386514_21386518dup, NC_000012.11:g.21386513_21386518dup, NC_000012.11:g.21386510_21386518dup, NC_000012.11:g.21386508_21386518dup, NC_000012.11:g.21386506_21386518dup, NC_000012.11:g.21386518_21386519insAAAAAAAAAAAAAA, NG_011745.1:g.107387_107391del, NG_011745.1:g.107388_107391del, NG_011745.1:g.107389_107391del, NG_011745.1:g.107390_107391del, NG_011745.1:g.107391del, NG_011745.1:g.107391dup, NG_011745.1:g.107390_107391dup, NG_011745.1:g.107389_107391dup, NG_011745.1:g.107388_107391dup, NG_011745.1:g.107387_107391dup, NG_011745.1:g.107386_107391dup, NG_011745.1:g.107383_107391dup, NG_011745.1:g.107381_107391dup, NG_011745.1:g.107379_107391dup, NG_011745.1:g.107391_107392insAAAAAAAAAAAAAA

Select item 14914431008.

rs1491443100 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATA [Show Flanks]
Chromosome:: 12:21160125 (GRCh38)
12:21313060 (GRCh37)
Canonical SPDI:: NC_000012.12:21160125:A:AATA
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AATA=0./0 (ALFA)
AAT=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.21160126_21160127insATA, NC_000012.11:g.21313060_21313061insATA, NG_011745.1:g.33933_33934insATA

Select item 14914414679.

rs1491441467 has merged into rs71043249 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:21148704 (GRCh38)
12:21301638 (GRCh37)
Canonical SPDI:: NC_000012.12:21148695:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:21148695:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:21148695:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:21148695:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:21148695:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:21148695:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:21148695:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:21148695:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:21148695:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:21148695:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:21148695:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000012.12:21148695:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:21148695:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:21148695:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:21148695:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.4357/2182 (1000Genomes)
HGVS:: NC_000012.12:g.21148704_21148715del, NC_000012.12:g.21148710_21148715del, NC_000012.12:g.21148711_21148715del, NC_000012.12:g.21148712_21148715del, NC_000012.12:g.21148713_21148715del, NC_000012.12:g.21148714_21148715del, NC_000012.12:g.21148715del, NC_000012.12:g.21148715dup, NC_000012.12:g.21148714_21148715dup, NC_000012.12:g.21148713_21148715dup, NC_000012.12:g.21148696_21148715T[23]GTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.21148709_21148715dup, NC_000012.12:g.21148708_21148715dup, NC_000012.12:g.21148707_21148715dup, NC_000012.12:g.21148715_21148716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.21301638_21301649del, NC_000012.11:g.21301644_21301649del, NC_000012.11:g.21301645_21301649del, NC_000012.11:g.21301646_21301649del, NC_000012.11:g.21301647_21301649del, NC_000012.11:g.21301648_21301649del, NC_000012.11:g.21301649del, NC_000012.11:g.21301649dup, NC_000012.11:g.21301648_21301649dup, NC_000012.11:g.21301647_21301649dup, NC_000012.11:g.21301630_21301649T[23]GTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.21301643_21301649dup, NC_000012.11:g.21301642_21301649dup, NC_000012.11:g.21301641_21301649dup, NC_000012.11:g.21301649_21301650insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011745.1:g.22511_22522del, NG_011745.1:g.22517_22522del, NG_011745.1:g.22518_22522del, NG_011745.1:g.22519_22522del, NG_011745.1:g.22520_22522del, NG_011745.1:g.22521_22522del, NG_011745.1:g.22522del, NG_011745.1:g.22522dup, NG_011745.1:g.22521_22522dup, NG_011745.1:g.22520_22522dup, NG_011745.1:g.22503_22522T[23]GTTTTTTTTTTTTTTTTTTTT[1], NG_011745.1:g.22516_22522dup, NG_011745.1:g.22515_22522dup, NG_011745.1:g.22514_22522dup, NG_011745.1:g.22522_22523insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149141026110.

rs1491410261 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:21160105 (GRCh38)
12:21313039 (GRCh37)
Canonical SPDI:: NC_000012.12:21160104:CT:
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00006/1 (ALFA)
-=0.00018/3 (TOMMO)
HGVS:: NC_000012.12:g.21160105_21160106del, NC_000012.11:g.21313039_21313040del, NG_011745.1:g.33912_33913del

Select item 149124445711.

rs1491244457 has merged into rs34413949 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 12:21187676 (GRCh38)
12:21340610 (GRCh37)
Canonical SPDI:: NC_000012.12:21187668:AAAAAAAAAA:AAAAAAA,NC_000012.12:21187668:AAAAAAAAAA:AAAAAAAA,NC_000012.12:21187668:AAAAAAAAAA:AAAAAAAAA,NC_000012.12:21187668:AAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:21187668:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.24135/1137 (1000Genomes)
A=0.44432/814 (Korea1K)
HGVS:: NC_000012.12:g.21187676_21187678del, NC_000012.12:g.21187677_21187678del, NC_000012.12:g.21187678del, NC_000012.12:g.21187678dup, NC_000012.12:g.21187677_21187678dup, NC_000012.11:g.21340610_21340612del, NC_000012.11:g.21340611_21340612del, NC_000012.11:g.21340612del, NC_000012.11:g.21340612dup, NC_000012.11:g.21340611_21340612dup, NG_011745.1:g.61483_61485del, NG_011745.1:g.61484_61485del, NG_011745.1:g.61485del, NG_011745.1:g.61485dup, NG_011745.1:g.61484_61485dup

Select item 149123883112.

rs1491238831 has merged into rs56102570 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:21160117 (GRCh38)
12:21313051 (GRCh37)
Canonical SPDI:: NC_000012.12:21160106:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:21160106:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:21160106:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:21160106:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:21160106:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:21160106:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:21160106:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:21160106:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21160106:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21160106:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21160106:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21160106:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21160106:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21160106:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.21160117_21160126del, NC_000012.12:g.21160120_21160126del, NC_000012.12:g.21160122_21160126del, NC_000012.12:g.21160123_21160126del, NC_000012.12:g.21160124_21160126del, NC_000012.12:g.21160125_21160126del, NC_000012.12:g.21160126del, NC_000012.12:g.21160126dup, NC_000012.12:g.21160125_21160126dup, NC_000012.12:g.21160124_21160126dup, NC_000012.12:g.21160123_21160126dup, NC_000012.12:g.21160122_21160126dup, NC_000012.12:g.21160121_21160126dup, NC_000012.12:g.21160114_21160126dup, NC_000012.11:g.21313051_21313060del, NC_000012.11:g.21313054_21313060del, NC_000012.11:g.21313056_21313060del, NC_000012.11:g.21313057_21313060del, NC_000012.11:g.21313058_21313060del, NC_000012.11:g.21313059_21313060del, NC_000012.11:g.21313060del, NC_000012.11:g.21313060dup, NC_000012.11:g.21313059_21313060dup, NC_000012.11:g.21313058_21313060dup, NC_000012.11:g.21313057_21313060dup, NC_000012.11:g.21313056_21313060dup, NC_000012.11:g.21313055_21313060dup, NC_000012.11:g.21313048_21313060dup, NG_011745.1:g.33924_33933del, NG_011745.1:g.33927_33933del, NG_011745.1:g.33929_33933del, NG_011745.1:g.33930_33933del, NG_011745.1:g.33931_33933del, NG_011745.1:g.33932_33933del, NG_011745.1:g.33933del, NG_011745.1:g.33933dup, NG_011745.1:g.33932_33933dup, NG_011745.1:g.33931_33933dup, NG_011745.1:g.33930_33933dup, NG_011745.1:g.33929_33933dup, NG_011745.1:g.33928_33933dup, NG_011745.1:g.33921_33933dup

Select item 149122683113.

rs1491226831 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:21142070 (GRCh38)
12:21295004 (GRCh37)
Canonical SPDI:: NC_000012.12:21142069:TA:
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.21142070_21142071del, NC_000012.11:g.21295004_21295005del, NG_011745.1:g.15877_15878del

Select item 149118919914.

rs1491189199 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:21187668 (GRCh38)
12:21340602 (GRCh37)
Canonical SPDI:: NC_000012.12:21187667:GA:
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.21187668_21187669del, NC_000012.11:g.21340602_21340603del, NG_011745.1:g.61475_61476del

Select item 149118155915.

rs1491181559 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:21160106 (GRCh38)
12:21313040 (GRCh37)
Canonical SPDI:: NC_000012.12:21160105:TA:
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.21160106_21160107del, NC_000012.11:g.21313040_21313041del, NG_011745.1:g.33913_33914del

Select item 149116899016.

rs1491168990 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAA [Show Flanks]
Chromosome:: 12:21233572 (GRCh38)
12:21386507 (GRCh37)
Canonical SPDI:: NC_000012.12:21233572:AA:AACAA
Gene:: SLCO1B1 (Varview), LOC124902895 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: AACAA=0./0 (ALFA)
AAC=0.00117/32 (TOMMO)
HGVS:: NC_000012.12:g.21233574_21233575insCAA, NC_000012.11:g.21386508_21386509insCAA, NG_011745.1:g.107381_107382insCAA

Select item 149102292517.

rs1491022925 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:21229329 (GRCh38)
12:21382264 (GRCh37)
Canonical SPDI:: NC_000012.12:21229329:T:TT
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.21229330dup, NC_000012.11:g.21382264dup, NG_011745.1:g.103137dup

Select item 149102065018.

rs1491020650 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 12:21169755 (GRCh38)
12:21322689 (GRCh37)
Canonical SPDI:: NC_000012.12:21169754:CC:
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0136/61 (ALFA)
HGVS:: NC_000012.12:g.21169755_21169756del, NC_000012.11:g.21322689_21322690del, NG_011745.1:g.43562_43563del

Select item 149100003419.

rs1491000034 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:21140567 (GRCh38)
12:21293501 (GRCh37)
Canonical SPDI:: NC_000012.12:21140566:A:G
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000012.12:g.21140567A>G, NC_000012.11:g.21293501A>G, NG_011745.1:g.14374A>G

Select item 149094822320.

rs1490948223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:21194799 (GRCh38)
12:21347733 (GRCh37)
Canonical SPDI:: NC_000012.12:21194798:G:C
Gene:: SLCO1B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.21194799G>C, NC_000012.11:g.21347733G>C, NG_011745.1:g.68606G>C

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