SNP Links for Gene (Select 102723722) - SNP

Select item 14909522251.

rs1490952225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:42137757 (GRCh38)
22:42533766 (GRCh37)
Canonical SPDI:: NC_000022.11:42137756:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.42137757G>A, NT_187682.1:g.60105G>A, NC_000022.10:g.42533766G>A, NW_014040931.1:g.58765G>A, NW_014040930.1:g.30324G>A, NW_009646208.1:g.37037G>A, NW_015148968.1:g.15502G>A, NW_004504305.1:g.60089G>A, XR_002959054.2:n.3615G>A, XR_002959054.1:n.2284G>A, XR_002959047.2:n.1897G>A, XR_002959047.1:n.1898G>A, XR_002959050.2:n.1739G>A, XR_002959050.1:n.1740G>A, XR_002959051.2:n.1460G>A, XR_002959051.1:n.1461G>A, XR_002959055.2:n.1409G>A, XR_002959055.1:n.1410G>A, XR_002959053.2:n.1287G>A, XR_002959053.1:n.1287G>A, XM_024452581.2:c.*648G>A, XM_024452581.1:c.*648G>A, XR_007068992.1:n.3226G>A, XR_007068991.1:n.2179G>A, XR_007068985.1:n.1919G>A, XR_007068984.1:n.1685G>A, XR_007068990.1:n.1573G>A, XR_007068986.1:n.1464G>A, XM_047443075.1:c.*648G>A, XR_007068988.1:n.1287G>A, XR_007068989.1:n.1270G>A, XR_007068993.1:n.1142G>A

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 14899939964.

rs1489993996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42139130 (GRCh38)
22:42535141 (GRCh37)
Canonical SPDI:: NC_000022.11:42139129:C:T
Gene:: CYP2D7 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.42139130C>T, NW_003315971.2:g.49323C>T, NT_187682.1:g.61480C>T, NC_000022.10:g.42535141C>T, NW_009646207.1:g.41940C>T, NW_014040931.1:g.60138C>T, NW_014040930.1:g.31697C>T, NW_009646208.1:g.38412C>T, NW_015148968.1:g.30536C>T, NW_004504305.1:g.73610C>T

Select item 14897950385.

rs1489795038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:42138271 (GRCh38)
22:42534280 (GRCh37)
Canonical SPDI:: NC_000022.11:42138270:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.42138271G>A, NW_003315971.2:g.48464G>A, NT_187682.1:g.60619G>A, NC_000022.10:g.42534280G>A, NW_009646207.1:g.41081G>A, NW_014040931.1:g.59279G>A, NW_014040930.1:g.30838G>A, NW_009646208.1:g.37551G>A, NW_015148968.1:g.29675G>A, NW_004504305.1:g.72749G>A, XR_002959054.2:n.4129G>A, XR_002959054.1:n.2798G>A, XR_002959047.2:n.2411G>A, XR_002959047.1:n.2412G>A, XR_002959050.2:n.2253G>A, XR_002959050.1:n.2254G>A, XR_002959051.2:n.1974G>A, XR_002959051.1:n.1975G>A, XR_002959055.2:n.1923G>A, XR_002959055.1:n.1924G>A, XR_002959053.2:n.1801G>A, XR_002959053.1:n.1801G>A, XM_024452581.2:c.*1162G>A, XM_024452581.1:c.*1162G>A, XR_002959057.2:n.1336G>A, XR_002959057.1:n.1336G>A, XR_007068992.1:n.3740G>A, XR_007068991.1:n.2693G>A, XR_007068985.1:n.2433G>A, XR_007068984.1:n.2199G>A, XR_007068987.1:n.2143G>A, XR_007068990.1:n.2087G>A, XR_007068986.1:n.1978G>A, XM_047443075.1:c.*1162G>A, XR_007068988.1:n.1801G>A, XR_007068989.1:n.1784G>A, XR_007068993.1:n.1656G>A

Select item 14897908026.

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 14897029927.

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 14896566778.

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 14892704479.

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 148909671210.

rs1489096712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:42134508 (GRCh38)
22:42530514 (GRCh37)
Canonical SPDI:: NC_000022.11:42134507:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.42134508T>C, NG_008376.4:g.1303A>G, NW_015148968.1:g.12250T>C, NW_014040931.1:g.28098T>C, NW_009646208.1:g.20075T>C, NW_004504305.1:g.56837T>C, NT_187682.1:g.56853T>C, NC_000022.10:g.42530514T>C, XR_007069000.1:n.736T>C

Select item 148903676811.

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 148902603112.

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 148871157913.

rs1488711579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42134183 (GRCh38)
22:42530189 (GRCh37)
Canonical SPDI:: NC_000022.11:42134182:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.42134183C>T, NG_008376.4:g.1628G>A, NW_015148968.1:g.11925C>T, NW_014040931.1:g.27773C>T, NW_009646208.1:g.19750C>T, NW_004504305.1:g.56512C>T, NT_187682.1:g.56528C>T, NC_000022.10:g.42530189C>T, XR_007069000.1:n.411C>T

Select item 148869321514.

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 148851917515.

rs1488519175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42134431 (GRCh38)
22:42530437 (GRCh37)
Canonical SPDI:: NC_000022.11:42134430:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.42134431C>T, NG_008376.4:g.1380G>A, NW_015148968.1:g.12173C>T, NW_014040931.1:g.28021C>T, NW_009646208.1:g.19998C>T, NW_004504305.1:g.56760C>T, NT_187682.1:g.56776C>T, NC_000022.10:g.42530437C>T, XR_007069000.1:n.659C>T

Select item 148841532216.

rs1488415322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:42133478 (GRCh38)
22:42529485 (GRCh37)
Canonical SPDI:: NC_000022.11:42133477:T:C
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.42133478T>C, NG_008376.4:g.2333A>G, NW_015148968.1:g.11221T>C, NW_014040931.1:g.27069T>C, NW_009646208.1:g.19046T>C, NW_004504305.1:g.55808T>C, NT_187682.1:g.55824T>C, NC_000022.10:g.42529485T>C

Select item 148838187517.

rs1488381875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42133338 (GRCh38)
22:42529345 (GRCh37)
Canonical SPDI:: NC_000022.11:42133337:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000022/3 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.42133338C>T, NG_008376.4:g.2473G>A, NW_015148968.1:g.11081C>T, NW_014040931.1:g.26929C>T, NW_009646208.1:g.18906C>T, NW_004504305.1:g.55668C>T, NT_187682.1:g.55684C>T, NC_000022.10:g.42529345C>T

Select item 148826702518.

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 148821694219.

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 148805269720.

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

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Gene

Items: 1 to 20 of 1000

Page of 50

Page of 50

Display Settings:

Supplemental Content

Find related data

Recent activity