SNP Links for Gene (Select 1565) - SNP

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Select item 14909985061.

rs1490998506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42125711 (GRCh38)
22:42521716 (GRCh37)
Canonical SPDI:: NC_000022.11:42125710:C:T
Gene:: NDUFA6-DT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/1 (GnomAD)
HGVS:: NC_000022.11:g.42125711C>T, NG_008376.4:g.10100G>A, NW_015148968.1:g.3452C>T, NW_014040931.1:g.19300C>T, NW_009646208.1:g.11277C>T, NW_004504305.1:g.48038C>T, NT_187682.1:g.48055C>T, NC_000022.10:g.42521716C>T, NW_003315971.2:g.48056C>T, NW_009646207.1:g.40673C>T

Select item 14903674992.

rs1490367499 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:42126954 (GRCh38)
22:42522957 (GRCh37)
Canonical SPDI:: NC_000022.11:42126954:TT:TTT
Gene:: CYP2D6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.42126956dup, NG_008376.4:g.8856dup, NM_000106.6:c.1211dup, NM_000106.5:c.1211dup, NM_001025161.3:c.1058dup, NM_001025161.2:c.1058dup, NW_015148968.1:g.4697dup, NW_014040931.1:g.20545dup, NW_009646208.1:g.12522dup, NW_004504305.1:g.49283dup, NT_187682.1:g.49297dup, NC_000022.10:g.42522958dup, NP_000097.3:p.Asp405fs, NP_001020332.2:p.Asp354fs

Select item 14902387573.

rs1490238757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:42126651 (GRCh38)
22:42522653 (GRCh37)
Canonical SPDI:: NC_000022.11:42126650:G:A
Gene:: CYP2D6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000022.11:g.42126651G>A, NG_008376.4:g.9160C>T, NM_000106.6:c.1417C>T, NM_000106.5:c.1417C>T, NM_001025161.3:c.1264C>T, NM_001025161.2:c.1264C>T, NW_015148968.1:g.4392G>A, NW_014040931.1:g.20240G>A, NW_009646208.1:g.12217G>A, NW_004504305.1:g.48978G>A, NT_187682.1:g.48992G>A, NC_000022.10:g.42522653G>A, NP_000097.3:p.Pro473Ser, NP_001020332.2:p.Pro422Ser

Select item 14902193284.

rs1490219328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42125953 (GRCh38)
22:42521958 (GRCh37)
Canonical SPDI:: NC_000022.11:42125952:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000022.11:g.42125953C>T, NG_008376.4:g.9858G>A, NW_015148968.1:g.3694C>T, NW_014040931.1:g.19542C>T, NW_009646208.1:g.11519C>T, NW_004504305.1:g.48280C>T, NT_187682.1:g.48297C>T, NC_000022.10:g.42521958C>T, NW_003315971.2:g.48298C>T, NW_009646207.1:g.40915C>T

Select item 14897908025.

rs1489790802 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:42128376 (GRCh38)
22:42524378 (GRCh37)
Canonical SPDI:: NC_000022.11:42128375:A:G
Gene:: CYP2D6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.42128376A>G, NG_008376.4:g.7435T>C, NW_015148968.1:g.6117A>G, NW_014040931.1:g.21965A>G, NW_009646208.1:g.13942A>G, NW_004504305.1:g.50703A>G, NT_187682.1:g.50717A>G, NC_000022.10:g.42524378A>G

Select item 14897029926.

rs1489702992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42126903 (GRCh38)
22:42522905 (GRCh37)
Canonical SPDI:: NC_000022.11:42126902:C:T
Gene:: CYP2D6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000022.11:g.42126903C>T, NG_008376.4:g.8908G>A, NM_000106.6:c.1263G>A, NM_000106.5:c.1263G>A, NM_001025161.3:c.1110G>A, NM_001025161.2:c.1110G>A, NW_015148968.1:g.4644C>T, NW_014040931.1:g.20492C>T, NW_009646208.1:g.12469C>T, NW_004504305.1:g.49230C>T, NT_187682.1:g.49244C>T, NC_000022.10:g.42522905C>T

Select item 14896566777.

rs1489656677 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCA>- [Show Flanks]
Chromosome:: 22:42127905 (GRCh38)
22:42523907 (GRCh37)
Canonical SPDI:: NC_000022.11:42127902:CACCA:CA
Gene:: CYP2D6 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.42127905_42127907del, NG_008376.4:g.7906_7908del, NM_000106.6:c.922_924del, NM_000106.5:c.922_924del, NM_001025161.3:c.769_771del, NM_001025161.2:c.769_771del, NW_015148968.1:g.5646_5648del, NW_014040931.1:g.21494_21496del, NW_009646208.1:g.13471_13473del, NW_004504305.1:g.50232_50234del, NT_187682.1:g.50246_50248del, NC_000022.10:g.42523907_42523909del, NP_000097.3:p.Val308del, NP_001020332.2:p.Val257del

Select item 14892704478.

rs1489270447 has merged into rs267608321 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:42132037 (GRCh38)
22:42528039 (GRCh37)
Canonical SPDI:: NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:42132027:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CYP2D6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.42132037_42132049del, NC_000022.11:g.42132038_42132049del, NC_000022.11:g.42132039_42132049del, NC_000022.11:g.42132040_42132049del, NC_000022.11:g.42132041_42132049del, NC_000022.11:g.42132042_42132049del, NC_000022.11:g.42132043_42132049del, NC_000022.11:g.42132044_42132049del, NC_000022.11:g.42132045_42132049del, NC_000022.11:g.42132046_42132049del, NC_000022.11:g.42132047_42132049del, NC_000022.11:g.42132048_42132049del, NC_000022.11:g.42132049del, NC_000022.11:g.42132049dup, NC_000022.11:g.42132048_42132049dup, NC_000022.11:g.42132047_42132049dup, NC_000022.11:g.42132046_42132049dup, NC_000022.11:g.42132045_42132049dup, NC_000022.11:g.42132044_42132049dup, NC_000022.11:g.42132043_42132049dup, NC_000022.11:g.42132042_42132049dup, NG_008376.4:g.3771_3783del, NG_008376.4:g.3772_3783del, NG_008376.4:g.3773_3783del, NG_008376.4:g.3774_3783del, NG_008376.4:g.3775_3783del, NG_008376.4:g.3776_3783del, NG_008376.4:g.3777_3783del, NG_008376.4:g.3778_3783del, NG_008376.4:g.3779_3783del, NG_008376.4:g.3780_3783del, NG_008376.4:g.3781_3783del, NG_008376.4:g.3782_3783del, NG_008376.4:g.3783del, NG_008376.4:g.3783dup, NG_008376.4:g.3782_3783dup, NG_008376.4:g.3781_3783dup, NG_008376.4:g.3780_3783dup, NG_008376.4:g.3779_3783dup, NG_008376.4:g.3778_3783dup, NG_008376.4:g.3777_3783dup, NG_008376.4:g.3776_3783dup, NW_015148968.1:g.9780_9792del, NW_015148968.1:g.9781_9792del, NW_015148968.1:g.9782_9792del, NW_015148968.1:g.9783_9792del, NW_015148968.1:g.9784_9792del, NW_015148968.1:g.9785_9792del, NW_015148968.1:g.9786_9792del, NW_015148968.1:g.9787_9792del, NW_015148968.1:g.9788_9792del, NW_015148968.1:g.9789_9792del, NW_015148968.1:g.9790_9792del, NW_015148968.1:g.9791_9792del, NW_015148968.1:g.9792del, NW_015148968.1:g.9792dup, NW_015148968.1:g.9791_9792dup, NW_015148968.1:g.9790_9792dup, NW_015148968.1:g.9789_9792dup, NW_015148968.1:g.9788_9792dup, NW_015148968.1:g.9787_9792dup, NW_015148968.1:g.9786_9792dup, NW_015148968.1:g.9785_9792dup, NW_014040931.1:g.25628_25640del, NW_014040931.1:g.25629_25640del, NW_014040931.1:g.25630_25640del, NW_014040931.1:g.25631_25640del, NW_014040931.1:g.25632_25640del, NW_014040931.1:g.25633_25640del, NW_014040931.1:g.25634_25640del, NW_014040931.1:g.25635_25640del, NW_014040931.1:g.25636_25640del, NW_014040931.1:g.25637_25640del, NW_014040931.1:g.25638_25640del, NW_014040931.1:g.25639_25640del, NW_014040931.1:g.25640del, NW_014040931.1:g.25640dup, NW_014040931.1:g.25639_25640dup, NW_014040931.1:g.25638_25640dup, NW_014040931.1:g.25637_25640dup, NW_014040931.1:g.25636_25640dup, NW_014040931.1:g.25635_25640dup, NW_014040931.1:g.25634_25640dup, NW_014040931.1:g.25633_25640dup, NW_009646208.1:g.17605_17617del, NW_009646208.1:g.17606_17617del, NW_009646208.1:g.17607_17617del, NW_009646208.1:g.17608_17617del, NW_009646208.1:g.17609_17617del, NW_009646208.1:g.17610_17617del, NW_009646208.1:g.17611_17617del, NW_009646208.1:g.17612_17617del, NW_009646208.1:g.17613_17617del, NW_009646208.1:g.17614_17617del, NW_009646208.1:g.17615_17617del, NW_009646208.1:g.17616_17617del, NW_009646208.1:g.17617del, NW_009646208.1:g.17617dup, NW_009646208.1:g.17616_17617dup, NW_009646208.1:g.17615_17617dup, NW_009646208.1:g.17614_17617dup, NW_009646208.1:g.17613_17617dup, NW_009646208.1:g.17612_17617dup, NW_009646208.1:g.17611_17617dup, NW_009646208.1:g.17610_17617dup, NW_004504305.1:g.54367_54379del, NW_004504305.1:g.54368_54379del, NW_004504305.1:g.54369_54379del, NW_004504305.1:g.54370_54379del, NW_004504305.1:g.54371_54379del, NW_004504305.1:g.54372_54379del, NW_004504305.1:g.54373_54379del, NW_004504305.1:g.54374_54379del, NW_004504305.1:g.54375_54379del, NW_004504305.1:g.54376_54379del, NW_004504305.1:g.54377_54379del, NW_004504305.1:g.54378_54379del, NW_004504305.1:g.54379del, NW_004504305.1:g.54379dup, NW_004504305.1:g.54378_54379dup, NW_004504305.1:g.54377_54379dup, NW_004504305.1:g.54376_54379dup, NW_004504305.1:g.54375_54379dup, NW_004504305.1:g.54374_54379dup, NW_004504305.1:g.54373_54379dup, NW_004504305.1:g.54372_54379dup, NT_187682.1:g.54383_54395del, NT_187682.1:g.54384_54395del, NT_187682.1:g.54385_54395del, NT_187682.1:g.54386_54395del, NT_187682.1:g.54387_54395del, NT_187682.1:g.54388_54395del, NT_187682.1:g.54389_54395del, NT_187682.1:g.54390_54395del, NT_187682.1:g.54391_54395del, NT_187682.1:g.54392_54395del, NT_187682.1:g.54393_54395del, NT_187682.1:g.54394_54395del, NT_187682.1:g.54395del, NT_187682.1:g.54395dup, NT_187682.1:g.54394_54395dup, NT_187682.1:g.54393_54395dup, NT_187682.1:g.54392_54395dup, NT_187682.1:g.54391_54395dup, NT_187682.1:g.54390_54395dup, NT_187682.1:g.54389_54395dup, NT_187682.1:g.54388_54395dup, NC_000022.10:g.42528044_42528056del, NC_000022.10:g.42528045_42528056del, NC_000022.10:g.42528046_42528056del, NC_000022.10:g.42528047_42528056del, NC_000022.10:g.42528048_42528056del, NC_000022.10:g.42528049_42528056del, NC_000022.10:g.42528050_42528056del, NC_000022.10:g.42528051_42528056del, NC_000022.10:g.42528052_42528056del, NC_000022.10:g.42528053_42528056del, NC_000022.10:g.42528054_42528056del, NC_000022.10:g.42528055_42528056del, NC_000022.10:g.42528056del, NC_000022.10:g.42528056dup, NC_000022.10:g.42528055_42528056dup, NC_000022.10:g.42528054_42528056dup, NC_000022.10:g.42528053_42528056dup, NC_000022.10:g.42528052_42528056dup, NC_000022.10:g.42528051_42528056dup, NC_000022.10:g.42528050_42528056dup, NC_000022.10:g.42528049_42528056dup, NG_055460.1:g.1322_1334del, NG_055460.1:g.1323_1334del, NG_055460.1:g.1324_1334del, NG_055460.1:g.1325_1334del, NG_055460.1:g.1326_1334del, NG_055460.1:g.1327_1334del, NG_055460.1:g.1328_1334del, NG_055460.1:g.1329_1334del, NG_055460.1:g.1330_1334del, NG_055460.1:g.1331_1334del, NG_055460.1:g.1332_1334del, NG_055460.1:g.1333_1334del, NG_055460.1:g.1334del, NG_055460.1:g.1334dup, NG_055460.1:g.1333_1334dup, NG_055460.1:g.1332_1334dup, NG_055460.1:g.1331_1334dup, NG_055460.1:g.1330_1334dup, NG_055460.1:g.1329_1334dup, NG_055460.1:g.1328_1334dup, NG_055460.1:g.1327_1334dup

Select item 14890367689.

rs1489036768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 22:42129016 (GRCh38)
22:42525018 (GRCh37)
Canonical SPDI:: NC_000022.11:42129015:T:A,NC_000022.11:42129015:T:C
Gene:: CYP2D6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.42129016T>A, NC_000022.11:g.42129016T>C, NG_008376.4:g.6795A>T, NG_008376.4:g.6795A>G, NW_015148968.1:g.6757T>A, NW_015148968.1:g.6757T>C, NW_014040931.1:g.22605T>A, NW_014040931.1:g.22605T>C, NW_009646208.1:g.14582T>A, NW_009646208.1:g.14582T>C, NW_004504305.1:g.51343T>A, NW_004504305.1:g.51343T>C, NT_187682.1:g.51357T>A, NT_187682.1:g.51357T>C, NC_000022.10:g.42525018T>A, NC_000022.10:g.42525018T>C

Select item 148902603110.

rs1489026031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:42132028 (GRCh38)
22:42528035 (GRCh37)
Canonical SPDI:: NC_000022.11:42132027:T:C
Gene:: CYP2D6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: drug-response
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000121/13 (GnomAD)
C=0.001526/25 (TOMMO)
C=0.003775/11 (KOREAN)
HGVS:: NC_000022.11:g.42132028T>C, NG_008376.4:g.3783A>G, NW_015148968.1:g.9771T>C, NW_014040931.1:g.25619T>C, NW_009646208.1:g.17596T>C, NW_004504305.1:g.54358T>C, NT_187682.1:g.54374T>C, NC_000022.10:g.42528035T>C, NG_055460.1:g.1313T>C

Select item 148900671811.

rs1489006718 has merged into rs536156813 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAGGGTGGGGAAGGGTGGG>-,GAAGGGTGGG,GAAGGGTGGGGAAGGGTGGGGAAGGGTGGG,GAAGGGTGGGGAAGGGTGGGGAAGGGTGGGGAAGGGTGGG [Show Flanks]
Chromosome:: 22:42125638 (GRCh38)
22:42521643 (GRCh37)
Canonical SPDI:: NC_000022.11:42125620:GGGTGGGGAAGGGTGGGGAAGGGTGGGGAAGGGTGGG:GGGTGGGGAAGGGTGGG,NC_000022.11:42125620:GGGTGGGGAAGGGTGGGGAAGGGTGGGGAAGGGTGGG:GGGTGGGGAAGGGTGGGGAAGGGTGGG,NC_000022.11:42125620:GGGTGGGGAAGGGTGGGGAAGGGTGGGGAAGGGTGGG:GGGTGGGGAAGGGTGGGGAAGGGTGGGGAAGGGTGGGGAAGGGTGGG,NC_000022.11:42125620:GGGTGGGGAAGGGTGGGGAAGGGTGGGGAAGGGTGGG:GGGTGGGGAAGGGTGGGGAAGGGTGGGGAAGGGTGGGGAAGGGTGGGGAAGGGTGGG
Gene:: NDUFA6-DT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGTGGGGAAGGGTGGGGAAGGGTGGGGAAGGGTGGGGAAGGGTGGG=0.00232/34 (ALFA)
-=0.00389/15 (ALSPAC)
-=0.10962/549 (1000Genomes)
HGVS:: NC_000022.11:g.42125628GAAGGGTGGG[1], NC_000022.11:g.42125628GAAGGGTGGG[2], NC_000022.11:g.42125628GAAGGGTGGG[4], NC_000022.11:g.42125628GAAGGGTGGG[5], NG_008376.4:g.10161TTCCCCACCC[1], NG_008376.4:g.10161TTCCCCACCC[2], NG_008376.4:g.10161TTCCCCACCC[4], NG_008376.4:g.10161TTCCCCACCC[5], NW_015148968.1:g.3369GAAGGGTGGG[1], NW_015148968.1:g.3369GAAGGGTGGG[2], NW_015148968.1:g.3369GAAGGGTGGG[4], NW_015148968.1:g.3369GAAGGGTGGG[5], NW_014040931.1:g.19217GAAGGGTGGG[1], NW_014040931.1:g.19217GAAGGGTGGG[2], NW_014040931.1:g.19217GAAGGGTGGG[4], NW_014040931.1:g.19217GAAGGGTGGG[5], NW_009646208.1:g.11194GAAGGGTGGG[1], NW_009646208.1:g.11194GAAGGGTGGG[2], NW_009646208.1:g.11194GAAGGGTGGG[4], NW_009646208.1:g.11194GAAGGGTGGG[5], NW_004504305.1:g.47955GAAGGGTGGG[1], NW_004504305.1:g.47955GAAGGGTGGG[2], NW_004504305.1:g.47955GAAGGGTGGG[4], NW_004504305.1:g.47955GAAGGGTGGG[5], NT_187682.1:g.47972GAAGGGTGGG[1], NT_187682.1:g.47972GAAGGGTGGG[2], NT_187682.1:g.47972GAAGGGTGGG[4], NT_187682.1:g.47972GAAGGGTGGG[5], NC_000022.10:g.42521633GAAGGGTGGG[1], NC_000022.10:g.42521633GAAGGGTGGG[2], NC_000022.10:g.42521633GAAGGGTGGG[4], NC_000022.10:g.42521633GAAGGGTGGG[5], NW_003315971.2:g.47973GAAGGGTGGG[1], NW_003315971.2:g.47973GAAGGGTGGG[2], NW_003315971.2:g.47973GAAGGGTGGG[4], NW_003315971.2:g.47973GAAGGGTGGG[5], NW_009646207.1:g.40590GAAGGGTGGG[1], NW_009646207.1:g.40590GAAGGGTGGG[2], NW_009646207.1:g.40590GAAGGGTGGG[4], NW_009646207.1:g.40590GAAGGGTGGG[5]

Select item 148869321512.

rs1488693215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:42126430 (GRCh38)
22:42522432 (GRCh37)
Canonical SPDI:: NC_000022.11:42126429:G:A
Gene:: CYP2D6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.42126430G>A, NG_008376.4:g.9381C>T, NW_015148968.1:g.4171G>A, NW_014040931.1:g.20019G>A, NW_009646208.1:g.11996G>A, NW_004504305.1:g.48757G>A, NT_187682.1:g.48771G>A, NC_000022.10:g.42522432G>A

Select item 148865588713.

rs1488655887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:42126007 (GRCh38)
22:42522012 (GRCh37)
Canonical SPDI:: NC_000022.11:42126006:G:C
Gene:: CYP2D6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.42126007G>C, NG_008376.4:g.9804C>G, NW_015148968.1:g.3748G>C, NW_014040931.1:g.19596G>C, NW_009646208.1:g.11573G>C, NW_004504305.1:g.48334G>C, NT_187682.1:g.48351G>C, NC_000022.10:g.42522012G>C

Select item 148826702514.

rs1488267025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:42129333 (GRCh38)
22:42525335 (GRCh37)
Canonical SPDI:: NC_000022.11:42129332:T:C,NC_000022.11:42129332:T:G
Gene:: CYP2D6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000068/9 (GnomAD_exomes)
HGVS:: NC_000022.11:g.42129333T>C, NC_000022.11:g.42129333T>G, NG_008376.4:g.6478A>G, NG_008376.4:g.6478A>C, NW_015148968.1:g.7074T>C, NW_015148968.1:g.7074T>G, NW_014040931.1:g.22922T>C, NW_014040931.1:g.22922T>G, NW_009646208.1:g.14899T>C, NW_009646208.1:g.14899T>G, NW_004504305.1:g.51660T>C, NW_004504305.1:g.51660T>G, NT_187682.1:g.51674T>C, NT_187682.1:g.51674T>G, NC_000022.10:g.42525335T>C, NC_000022.10:g.42525335T>G

Select item 148821694215.

rs1488216942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:42129915 (GRCh38)
22:42525917 (GRCh37)
Canonical SPDI:: NC_000022.11:42129914:G:A,NC_000022.11:42129914:G:C
Gene:: CYP2D6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.42129915G>A, NC_000022.11:g.42129915G>C, NG_008376.4:g.5896C>T, NG_008376.4:g.5896C>G, NW_015148968.1:g.7656G>A, NW_015148968.1:g.7656G>C, NW_014040931.1:g.23504G>A, NW_014040931.1:g.23504G>C, NW_009646208.1:g.15481G>A, NW_009646208.1:g.15481G>C, NW_004504305.1:g.52242G>A, NW_004504305.1:g.52242G>C, NT_187682.1:g.52256G>A, NT_187682.1:g.52256G>C, NC_000022.10:g.42525917G>A, NC_000022.10:g.42525917G>C, XR_007068998.1:n.21G>A, XR_007068998.1:n.21G>C, XR_007069004.1:n.27G>A, XR_007069004.1:n.27G>C

Select item 148805269716.

rs1488052697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:42132779 (GRCh38)
22:42528786 (GRCh37)
Canonical SPDI:: NC_000022.11:42132778:G:A
Gene:: CYP2D6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.42132779G>A, NG_008376.4:g.3032C>T, NW_015148968.1:g.10522G>A, NW_014040931.1:g.26370G>A, NW_009646208.1:g.18347G>A, NW_004504305.1:g.55109G>A, NT_187682.1:g.55125G>A, NC_000022.10:g.42528786G>A, XR_007068997.1:n.339G>A

Select item 148800190717.

rs1488001907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:42132672 (GRCh38)
22:42528679 (GRCh37)
Canonical SPDI:: NC_000022.11:42132671:C:G,NC_000022.11:42132671:C:T
Gene:: CYP2D6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00043/7 (TOMMO)
T=0.0024/7 (KOREAN)
HGVS:: NC_000022.11:g.42132672C>G, NC_000022.11:g.42132672C>T, NG_008376.4:g.3139G>C, NG_008376.4:g.3139G>A, NW_015148968.1:g.10415C>G, NW_015148968.1:g.10415C>T, NW_014040931.1:g.26263C>G, NW_014040931.1:g.26263C>T, NW_009646208.1:g.18240C>G, NW_009646208.1:g.18240C>T, NW_004504305.1:g.55002C>G, NW_004504305.1:g.55002C>T, NT_187682.1:g.55018C>G, NT_187682.1:g.55018C>T, NC_000022.10:g.42528679C>G, NC_000022.10:g.42528679C>T, XR_007068997.1:n.232C>G, XR_007068997.1:n.232C>T

Select item 148747193518.

rs1487471935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42128230 (GRCh38)
22:42524232 (GRCh37)
Canonical SPDI:: NC_000022.11:42128229:C:T
Gene:: CYP2D6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.42128230C>T, NG_008376.4:g.7581G>A, NM_000106.6:c.787G>A, NM_000106.5:c.787G>A, NM_001025161.3:c.634G>A, NM_001025161.2:c.634G>A, NW_015148968.1:g.5971C>T, NW_014040931.1:g.21819C>T, NW_009646208.1:g.13796C>T, NW_004504305.1:g.50557C>T, NT_187682.1:g.50571C>T, NC_000022.10:g.42524232C>T, NP_000097.3:p.Asp263Asn, NP_001020332.2:p.Asp212Asn

Select item 148730501319.

rs1487305013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:42131545 (GRCh38)
22:42527547 (GRCh37)
Canonical SPDI:: NC_000022.11:42131544:C:A
Gene:: CYP2D6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.42131545C>A, NG_008376.4:g.4266G>T, NW_015148968.1:g.9286C>A, NW_014040931.1:g.25134C>A, NW_009646208.1:g.17111C>A, NW_004504305.1:g.53872C>A, NT_187682.1:g.53886C>A, NC_000022.10:g.42527547C>A, NG_055460.1:g.830C>A

Select item 148725429220.

rs1487254292 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>- [Show Flanks]
Chromosome:: 22:42130904 (GRCh38)
22:42526906 (GRCh37)
Canonical SPDI:: NC_000022.11:42130902:TTAT:T
Gene:: CYP2D6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
-=0.00005/7 (GnomAD)
HGVS:: NC_000022.11:g.42130904_42130906del, NG_008376.4:g.4906_4908del, NW_015148968.1:g.8645_8647del, NW_014040931.1:g.24493_24495del, NW_009646208.1:g.16470_16472del, NW_004504305.1:g.53231_53233del, NT_187682.1:g.53245_53247del, NC_000022.10:g.42526906_42526908del, NG_055460.1:g.189_191del

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