SNP Links for Gene (Select 1584) - SNP

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Select item 14904117781.

rs1490411778 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:142873055 (GRCh38)
8:143954471 (GRCh37)
Canonical SPDI:: NC_000008.11:142873054:A:G
Gene:: CYP11B1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.142873055A>G, NC_000008.10:g.143954471A>G, NG_007954.1:g.11766T>C, NM_000497.4:c.*1318T>C, NM_000497.3:c.*1318T>C, NM_001026213.1:c.*1318T>C

Select item 14901713712.

rs1490171371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:142872190 (GRCh38)
8:143953606 (GRCh37)
Canonical SPDI:: NC_000008.11:142872189:G:A,NC_000008.11:142872189:G:C
Gene:: CYP11B1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000008.11:g.142872190G>A, NC_000008.11:g.142872190G>C, NC_000008.10:g.143953606G>A, NC_000008.10:g.143953606G>C, NG_007954.1:g.12631C>T, NG_007954.1:g.12631C>G

Select item 14899233573.

rs1489923357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:142871895 (GRCh38)
8:143953311 (GRCh37)
Canonical SPDI:: NC_000008.11:142871894:G:A
Gene:: CYP11B1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.142871895G>A, NC_000008.10:g.143953311G>A, NG_007954.1:g.12926C>T

Select item 14896381954.

rs1489638195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:142879579 (GRCh38)
8:143960995 (GRCh37)
Canonical SPDI:: NC_000008.11:142879578:A:T
Gene:: CYP11B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-pathogenic,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.142879579A>T, NC_000008.10:g.143960995A>T, NG_007954.1:g.5242T>A, NM_000497.4:c.235T>A, NM_000497.3:c.235T>A, NM_001026213.1:c.235T>A, NP_000488.3:p.Phe79Ile, NP_001021384.1:p.Phe79Ile

Select item 14889837075.

rs1488983707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:142875650 (GRCh38)
8:143957066 (GRCh37)
Canonical SPDI:: NC_000008.11:142875649:C:G,NC_000008.11:142875649:C:T
Gene:: CYP11B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.142875650C>G, NC_000008.11:g.142875650C>T, NC_000008.10:g.143957066C>G, NC_000008.10:g.143957066C>T, NG_007954.1:g.9171G>C, NG_007954.1:g.9171G>A, NG_046132.1:g.1517C>G, NG_046132.1:g.1517C>T

Select item 14887518196.

rs1488751819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:142874507 (GRCh38)
8:143955923 (GRCh37)
Canonical SPDI:: NC_000008.11:142874506:C:T
Gene:: CYP11B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.142874507C>T, NC_000008.10:g.143955923C>T, NG_007954.1:g.10314G>A, NG_046132.1:g.374C>T

Select item 14887249657.

rs1488724965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:142872077 (GRCh38)
8:143953493 (GRCh37)
Canonical SPDI:: NC_000008.11:142872076:G:C
Gene:: CYP11B1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.142872077G>C, NC_000008.10:g.143953493G>C, NG_007954.1:g.12744C>G

Select item 14886708248.

rs1488670824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:142873194 (GRCh38)
8:143954610 (GRCh37)
Canonical SPDI:: NC_000008.11:142873193:A:G
Gene:: CYP11B1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.142873194A>G, NC_000008.10:g.143954610A>G, NG_007954.1:g.11627T>C, NM_000497.4:c.*1179T>C, NM_000497.3:c.*1179T>C, NM_001026213.1:c.*1179T>C

Select item 14886394079.

rs1488639407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:142879322 (GRCh38)
8:143960738 (GRCh37)
Canonical SPDI:: NC_000008.11:142879321:G:A
Gene:: CYP11B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000008.11:g.142879322G>A, NC_000008.10:g.143960738G>A, NG_007954.1:g.5499C>T

Select item 148859598810.

rs1488595988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:142877729 (GRCh38)
8:143959145 (GRCh37)
Canonical SPDI:: NC_000008.11:142877728:C:A
Gene:: CYP11B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.142877729C>A, NC_000008.10:g.143959145C>A, NG_007954.1:g.7092G>T, NG_046132.1:g.3596C>A

Select item 148859025011.

rs1488590250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:142881492 (GRCh38)
8:143962908 (GRCh37)
Canonical SPDI:: NC_000008.11:142881491:C:A
Gene:: CYP11B1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.142881492C>A, NC_000008.10:g.143962908C>A, NG_007954.1:g.3329G>T

Select item 148851866312.

rs1488518663 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:142880570 (GRCh38)
8:143961986 (GRCh37)
Canonical SPDI:: NC_000008.11:142880569:T:C
Gene:: CYP11B1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.142880570T>C, NC_000008.10:g.143961986T>C, NG_007954.1:g.4251A>G, NG_055454.1:g.948T>C

Select item 148794776713.

rs1487947767 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:142880602 (GRCh38)
8:143962018 (GRCh37)
Canonical SPDI:: NC_000008.11:142880601:G:C
Gene:: CYP11B1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0009/4 (ALFA)
HGVS:: NC_000008.11:g.142880602G>C, NC_000008.10:g.143962018G>C, NG_007954.1:g.4219C>G, NG_055454.1:g.980G>C

Select item 148793156414.

rs1487931564 has merged into rs1247167469 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 8:142880649 (GRCh38)
8:143962065 (GRCh37)
Canonical SPDI:: NC_000008.11:142880648:AAAAAA:AAAAA,NC_000008.11:142880648:AAAAAA:AAAAAAA
Gene:: CYP11B1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.001201/318 (TOPMED)
HGVS:: NC_000008.11:g.142880654del, NC_000008.11:g.142880654dup, NC_000008.10:g.143962070del, NC_000008.10:g.143962070dup, NG_007954.1:g.4172del, NG_007954.1:g.4172dup, NG_055454.1:g.1032del, NG_055454.1:g.1032dup

Select item 148787391715.

rs1487873917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:142881117 (GRCh38)
8:143962533 (GRCh37)
Canonical SPDI:: NC_000008.11:142881116:C:A
Gene:: CYP11B1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000008.11:g.142881117C>A, NC_000008.10:g.143962533C>A, NG_007954.1:g.3704G>T, NG_055454.1:g.1495C>A

Select item 148781695416.

rs1487816954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:142879747 (GRCh38)
8:143961163 (GRCh37)
Canonical SPDI:: NC_000008.11:142879746:C:T
Gene:: CYP11B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.142879747C>T, NC_000008.10:g.143961163C>T, NG_007954.1:g.5074G>A, NM_000497.4:c.67G>A, NM_000497.3:c.67G>A, NM_001026213.1:c.67G>A, NG_055454.1:g.125C>T, NP_000488.3:p.Ala23Thr, NP_001021384.1:p.Ala23Thr

Select item 148765744417.

rs1487657444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:142879056 (GRCh38)
8:143960472 (GRCh37)
Canonical SPDI:: NC_000008.11:142879055:C:T
Gene:: CYP11B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.142879056C>T, NC_000008.10:g.143960472C>T, NG_007954.1:g.5765G>A, NM_000497.4:c.371G>A, NM_000497.3:c.371G>A, NM_001026213.1:c.371G>A, NG_046132.1:g.4923C>T, NP_000488.3:p.Gly124Glu, NP_001021384.1:p.Gly124Glu

Select item 148760479918.

rs1487604799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:142881110 (GRCh38)
8:143962526 (GRCh37)
Canonical SPDI:: NC_000008.11:142881109:T:G
Gene:: CYP11B1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.142881110T>G, NC_000008.10:g.143962526T>G, NG_007954.1:g.3711A>C, NG_055454.1:g.1488T>G

Select item 148747192719.

rs1487471927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:142879837 (GRCh38)
8:143961253 (GRCh37)
Canonical SPDI:: NC_000008.11:142879836:C:G
Gene:: CYP11B1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.142879837C>G, NC_000008.10:g.143961253C>G, NG_007954.1:g.4984G>C, NG_055454.1:g.215C>G

Select item 148734684220.

rs1487346842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:142876852 (GRCh38)
8:143958268 (GRCh37)
Canonical SPDI:: NC_000008.11:142876851:C:T
Gene:: CYP11B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.142876852C>T, NC_000008.10:g.143958268C>T, NG_007954.1:g.7969G>A, NM_000497.4:c.629G>A, NM_000497.3:c.629G>A, NM_001026213.1:c.629G>A, NG_046132.1:g.2719C>T, NP_000488.3:p.Gly210Asp, NP_001021384.1:p.Gly210Asp

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