SNP Links for Nucleotide (Select 189339203) - SNP

Links from Nucleotide

Items: 1 to 20 of 4119

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Select item 14908138091.

rs1490813809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:142881990 (GRCh38)
8:143963406 (GRCh37)
Canonical SPDI:: NC_000008.11:142881989:G:A,NC_000008.11:142881989:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00788/122 (ALFA)
T=0.05068/148 (KOREAN)
T=0.06348/1064 (TOMMO)
HGVS:: NC_000008.11:g.142881990G>A, NC_000008.11:g.142881990G>T, NC_000008.10:g.143963406G>A, NC_000008.10:g.143963406G>T, NG_007954.1:g.2831C>T, NG_007954.1:g.2831C>A

Select item 14904117782.

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 14901713713.

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 14900619374.

rs1490061937 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:142884631 (GRCh38)
8:143966047 (GRCh37)
Canonical SPDI:: NC_000008.11:142884630:T:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.142884631T>G, NC_000008.10:g.143966047T>G, NG_007954.1:g.190A>C

Select item 14899233575.

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 14896381956.

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 14896060897.

rs1489606089 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:142881951 (GRCh38)
8:143963367 (GRCh37)
Canonical SPDI:: NC_000008.11:142881950:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.142881951A>G, NC_000008.10:g.143963367A>G, NG_007954.1:g.2870T>C

Select item 14890736818.

rs1489073681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:142870507 (GRCh38)
8:143951923 (GRCh37)
Canonical SPDI:: NC_000008.11:142870506:G:C
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.142870507G>C, NC_000008.10:g.143951923G>C, NG_007954.1:g.14314C>G

Select item 14889837079.

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 148888825810.

rs1488888258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:142882900 (GRCh38)
8:143964316 (GRCh37)
Canonical SPDI:: NC_000008.11:142882899:G:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.142882900G>C, NC_000008.10:g.143964316G>C, NG_007954.1:g.1921C>G

Select item 148878489011.

rs1488784890 [Homo sapiens]

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

Select item 148875181912.

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 148872496513.

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 148870609714.

rs1488706097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:142870456 (GRCh38)
8:143951872 (GRCh37)
Canonical SPDI:: NC_000008.11:142870455:C:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.142870456C>G, NC_000008.10:g.143951872C>G, NG_007954.1:g.14365G>C

Select item 148867082415.

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 148863940716.

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 148859598817.

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 148859025018.

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 148851866319.

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 148794776720.

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

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