SNP Links for Gene (Select 284541) - SNP

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Select item 14909358001.

rs1490935800 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:47138770 (GRCh38)
1:47604442 (GRCh37)
Canonical SPDI:: NC_000001.11:47138769:A:G
Gene:: CYP4A22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.47138770A>G, NC_000001.10:g.47604442A>G, NG_007937.1:g.6336A>G

Select item 14907279472.

rs1490727947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:47144048 (GRCh38)
1:47609720 (GRCh37)
Canonical SPDI:: NC_000001.11:47144047:G:T
Gene:: CYP4A22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.47144048G>T, NC_000001.10:g.47609720G>T, NG_007937.1:g.11614G>T

Select item 14902363503.

rs1490236350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:47143761 (GRCh38)
1:47609433 (GRCh37)
Canonical SPDI:: NC_000001.11:47143760:G:A,NC_000001.11:47143760:G:T
Gene:: CYP4A22 (Varview)
Functional Consequence:: splice_acceptor_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.47143761G>A, NC_000001.11:g.47143761G>T, NC_000001.10:g.47609433G>A, NC_000001.10:g.47609433G>T, NG_007937.1:g.11327G>A, NG_007937.1:g.11327G>T

Select item 14896477284.

rs1489647728 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCT [Show Flanks]
Chromosome:: 1:47139274 (GRCh38)
1:47604947 (GRCh37)
Canonical SPDI:: NC_000001.11:47139274:CT:CTTCT
Gene:: CYP4A22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTCT=0.00112/5 (ALFA)
CTT=0.00517/87 (TOMMO)
CTT=0.01037/19 (Korea1K)
HGVS:: NC_000001.11:g.47139276_47139277insTCT, NC_000001.10:g.47604948_47604949insTCT, NG_007937.1:g.6842_6843insTCT

Select item 14892225145.

rs1489222514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:47136679 (GRCh38)
1:47602351 (GRCh37)
Canonical SPDI:: NC_000001.11:47136678:C:A
Gene:: CYP4A22 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.47136679C>A, NC_000001.10:g.47602351C>A, NG_007937.1:g.4245C>A

Select item 14890306746.

rs1489030674 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:47147598 (GRCh38)
1:47613270 (GRCh37)
Canonical SPDI:: NC_000001.11:47147597:A:G
Gene:: CYP4A22 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.47147598A>G, NC_000001.10:g.47613270A>G, NG_007937.1:g.15164A>G

Select item 14890145697.

rs1489014569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:47148982 (GRCh38)
1:47614654 (GRCh37)
Canonical SPDI:: NC_000001.11:47148981:C:A
Gene:: CYP4A22 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.47148982C>A, NC_000001.10:g.47614654C>A, NG_007937.1:g.16548C>A, NM_001010969.4:c.*185C>A, XM_005270767.4:c.*185C>A, XM_005270767.3:c.*185C>A

Select item 14888937418.

rs1488893741 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:47137167 (GRCh38)
1:47602839 (GRCh37)
Canonical SPDI:: NC_000001.11:47137166:T:A,NC_000001.11:47137166:T:G
Gene:: CYP4A22 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.47137167T>A, NC_000001.11:g.47137167T>G, NC_000001.10:g.47602839T>A, NC_000001.10:g.47602839T>G, NG_007937.1:g.4733T>A, NG_007937.1:g.4733T>G

Select item 14885445679.

rs1488544567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:47150065 (GRCh38)
1:47615737 (GRCh37)
Canonical SPDI:: NC_000001.11:47150064:C:T
Gene:: CYP4A22 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.47150065C>T, NC_000001.10:g.47615737C>T, NG_007937.1:g.17631C>T

Select item 148833620510.

rs1488336205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:47144124 (GRCh38)
1:47609796 (GRCh37)
Canonical SPDI:: NC_000001.11:47144123:C:G
Gene:: CYP4A22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.47144124C>G, NC_000001.10:g.47609796C>G, NG_007937.1:g.11690C>G

Select item 148826429911.

rs1488264299 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:47146047 (GRCh38)
1:47611719 (GRCh37)
Canonical SPDI:: NC_000001.11:47146046:A:G
Gene:: CYP4A22 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.47146047A>G, NC_000001.10:g.47611719A>G, NG_007937.1:g.13613A>G

Select item 148815831712.

rs1488158317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:47137717 (GRCh38)
1:47603389 (GRCh37)
Canonical SPDI:: NC_000001.11:47137716:G:A
Gene:: CYP4A22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.47137717G>A, NC_000001.10:g.47603389G>A, NG_007937.1:g.5283G>A

Select item 148778176513.

rs1487781765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:47142406 (GRCh38)
1:47608078 (GRCh37)
Canonical SPDI:: NC_000001.11:47142405:G:C
Gene:: CYP4A22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.47142406G>C, NC_000001.10:g.47608078G>C, NG_007937.1:g.9972G>C

Select item 148770530314.

rs1487705303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:47143271 (GRCh38)
1:47608943 (GRCh37)
Canonical SPDI:: NC_000001.11:47143270:C:T
Gene:: CYP4A22 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.47143271C>T, NC_000001.10:g.47608943C>T, NG_007937.1:g.10837C>T, NM_001010969.4:c.513C>T, NM_001010969.3:c.513C>T, NM_001010969.2:c.513C>T, NM_001308102.2:c.513C>T, NM_001308102.1:c.513C>T, XM_005270767.4:c.513C>T, XM_005270767.3:c.513C>T, XM_005270767.2:c.513C>T, XM_005270767.1:c.513C>T, XM_005270770.4:c.513C>T, XM_005270770.3:c.513C>T, XM_005270770.2:c.513C>T, XM_005270770.1:c.513C>T, XM_047418181.1:c.513C>T

Select item 148763184515.

rs1487631845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:47139248 (GRCh38)
1:47604920 (GRCh37)
Canonical SPDI:: NC_000001.11:47139247:G:A,NC_000001.11:47139247:G:C
Gene:: CYP4A22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.47139248G>A, NC_000001.11:g.47139248G>C, NC_000001.10:g.47604920G>A, NC_000001.10:g.47604920G>C, NG_007937.1:g.6814G>A, NG_007937.1:g.6814G>C

Select item 148745571216.

rs1487455712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:47142907 (GRCh38)
1:47608579 (GRCh37)
Canonical SPDI:: NC_000001.11:47142906:G:C
Gene:: CYP4A22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000684/2 (KOREAN)
HGVS:: NC_000001.11:g.47142907G>C, NC_000001.10:g.47608579G>C, NG_007937.1:g.10473G>C

Select item 148723119617.

rs1487231196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:47135535 (GRCh38)
1:47601207 (GRCh37)
Canonical SPDI:: NC_000001.11:47135534:T:C
Gene:: CYP4A22 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.47135535T>C, NC_000001.10:g.47601207T>C, NG_007937.1:g.3101T>C

Select item 148717940818.

rs1487179408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:47141926 (GRCh38)
1:47607598 (GRCh37)
Canonical SPDI:: NC_000001.11:47141925:C:A,NC_000001.11:47141925:C:G,NC_000001.11:47141925:C:T
Gene:: CYP4A22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.47141926C>A, NC_000001.11:g.47141926C>G, NC_000001.11:g.47141926C>T, NC_000001.10:g.47607598C>A, NC_000001.10:g.47607598C>G, NC_000001.10:g.47607598C>T, NG_007937.1:g.9492C>A, NG_007937.1:g.9492C>G, NG_007937.1:g.9492C>T

Select item 148709615619.

rs1487096156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:47141322 (GRCh38)
1:47606994 (GRCh37)
Canonical SPDI:: NC_000001.11:47141321:T:C
Gene:: CYP4A22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.47141322T>C, NC_000001.10:g.47606994T>C, NG_007937.1:g.8888T>C

Select item 148679226620.

rs1486792266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:47142024 (GRCh38)
1:47607696 (GRCh37)
Canonical SPDI:: NC_000001.11:47142023:T:C
Gene:: CYP4A22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.47142024T>C, NC_000001.10:g.47607696T>C, NG_007937.1:g.9590T>C

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