SNP Links for Protein (Select 153218646) - SNP

Links from Protein

Items: 1 to 20 of 506

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Select item 14908934271.

rs1490893427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74348026 (GRCh38)
15:74640367 (GRCh37)
Canonical SPDI:: NC_000015.10:74348025:T:C
Gene:: CYP11A1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74348026T>C, NC_000015.9:g.74640367T>C, NG_007973.2:g.24620A>G, NG_007973.1:g.24716A>G, NM_000781.3:c.299A>G, NM_000781.2:c.299A>G, NM_001099773.2:c.-176A>G, NM_001099773.1:c.-176A>G, NW_021160016.1:g.177295T>C, NP_000772.2:p.Tyr100Cys

Select item 14889451232.

rs1488945123 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74343790 (GRCh38)
15:74636131 (GRCh37)
Canonical SPDI:: NC_000015.10:74343789:T:C
Gene:: CYP11A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000015.10:g.74343790T>C, NC_000015.9:g.74636131T>C, NG_007973.2:g.28856A>G, NG_007973.1:g.28952A>G, NM_000781.3:c.828A>G, NM_000781.2:c.828A>G, NM_001099773.2:c.354A>G, NM_001099773.1:c.354A>G, NW_021160016.1:g.173059T>C

Select item 14837697163.

rs1483769716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74343036 (GRCh38)
15:74635377 (GRCh37)
Canonical SPDI:: NC_000015.10:74343035:T:C
Gene:: CYP11A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74343036T>C, NC_000015.9:g.74635377T>C, NG_007973.2:g.29610A>G, NG_007973.1:g.29706A>G, NM_000781.3:c.931A>G, NM_000781.2:c.931A>G, NM_001099773.2:c.457A>G, NM_001099773.1:c.457A>G, NW_021160016.1:g.172305T>C, NP_000772.2:p.Met311Val, NP_001093243.1:p.Met153Val

Select item 14834425764.

rs1483442576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74343978 (GRCh38)
15:74636319 (GRCh37)
Canonical SPDI:: NC_000015.10:74343977:T:C
Gene:: CYP11A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74343978T>C, NC_000015.9:g.74636319T>C, NG_007973.2:g.28668A>G, NG_007973.1:g.28764A>G, NM_000781.3:c.640A>G, NM_000781.2:c.640A>G, NM_001099773.2:c.166A>G, NM_001099773.1:c.166A>G, NW_021160016.1:g.173247T>C, NP_000772.2:p.Ile214Val, NP_001093243.1:p.Ile56Val

Select item 14832544495.

rs1483254449 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:74343129 (GRCh38)
15:74635470 (GRCh37)
Canonical SPDI:: NC_000015.10:74343128:A:G
Gene:: CYP11A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.74343129A>G, NC_000015.9:g.74635470A>G, NG_007973.2:g.29517T>C, NG_007973.1:g.29613T>C, NM_000781.3:c.838T>C, NM_000781.2:c.838T>C, NM_001099773.2:c.364T>C, NM_001099773.1:c.364T>C, NW_021160016.1:g.172398A>G, NP_000772.2:p.Tyr280His, NP_001093243.1:p.Tyr122His

Select item 14798696616.

rs1479869661 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74338666 (GRCh38)
15:74631007 (GRCh37)
Canonical SPDI:: NC_000015.10:74338665:T:C
Gene:: CYP11A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.74338666T>C, NC_000015.9:g.74631007T>C, NG_007973.2:g.33980A>G, NG_007973.1:g.34076A>G, NM_000781.3:c.1339A>G, NM_000781.2:c.1339A>G, NM_001099773.2:c.865A>G, NM_001099773.1:c.865A>G, NW_021160016.1:g.167935T>C, NP_000772.2:p.Ile447Val, NP_001093243.1:p.Ile289Val

Select item 14752132167.

rs1475213216 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 15:74338721 (GRCh38)
15:74631062 (GRCh37)
Canonical SPDI:: NC_000015.10:74338720:G:
Gene:: CYP11A1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74338721del, NC_000015.9:g.74631062del, NG_007973.2:g.33925del, NG_007973.1:g.34021del, NM_000781.3:c.1284del, NM_000781.2:c.1284del, NM_001099773.2:c.810del, NM_001099773.1:c.810del, NW_021160016.1:g.167990del, NP_000772.2:p.Phe429fs, NP_001093243.1:p.Phe271fs

Select item 14737681128.

rs1473768112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:74339642 (GRCh38)
15:74631983 (GRCh37)
Canonical SPDI:: NC_000015.10:74339641:C:T
Gene:: CYP11A1 (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_000015.10:g.74339642C>T, NC_000015.9:g.74631983C>T, NG_007973.2:g.33004G>A, NG_007973.1:g.33100G>A, NM_000781.3:c.1102G>A, NM_000781.2:c.1102G>A, NM_001099773.2:c.628G>A, NM_001099773.1:c.628G>A, NW_021160016.1:g.168911C>T, NP_000772.2:p.Ala368Thr, NP_001093243.1:p.Ala210Thr

Select item 14736534829.

rs1473653482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74338691 (GRCh38)
15:74631032 (GRCh37)
Canonical SPDI:: NC_000015.10:74338690:G:A
Gene:: CYP11A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.74338691G>A, NC_000015.9:g.74631032G>A, NG_007973.2:g.33955C>T, NG_007973.1:g.34051C>T, NM_000781.3:c.1314C>T, NM_000781.2:c.1314C>T, NM_001099773.2:c.840C>T, NM_001099773.1:c.840C>T, NW_021160016.1:g.167960G>A

Select item 147265058510.

rs1472650585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:74338756 (GRCh38)
15:74631097 (GRCh37)
Canonical SPDI:: NC_000015.10:74338755:C:T
Gene:: CYP11A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000015.10:g.74338756C>T, NC_000015.9:g.74631097C>T, NG_007973.2:g.33890G>A, NG_007973.1:g.33986G>A, NM_000781.3:c.1249G>A, NM_000781.2:c.1249G>A, NM_001099773.2:c.775G>A, NM_001099773.1:c.775G>A, NW_021160016.1:g.168025C>T, NP_000772.2:p.Val417Met, NP_001093243.1:p.Val259Met

Select item 147134481811.

rs1471344818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74367464 (GRCh38)
15:74659805 (GRCh37)
Canonical SPDI:: NC_000015.10:74367463:G:A
Gene:: CYP11A1 (Varview), LOC124903524 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74367464G>A, NC_000015.9:g.74659805G>A, NG_007973.2:g.5182C>T, NG_007973.1:g.5277C>T, NM_000781.3:c.122C>T, NM_000781.2:c.122C>T, NW_021160016.1:g.196733G>A, XR_007064709.1:n.1847G>A, NP_000772.2:p.Ser41Phe

Select item 146859632212.

rs1468596322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:74343986 (GRCh38)
15:74636327 (GRCh37)
Canonical SPDI:: NC_000015.10:74343985:G:A,NC_000015.10:74343985:G:C
Gene:: CYP11A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.74343986G>A, NC_000015.10:g.74343986G>C, NC_000015.9:g.74636327G>A, NC_000015.9:g.74636327G>C, NG_007973.2:g.28660C>T, NG_007973.2:g.28660C>G, NG_007973.1:g.28756C>T, NG_007973.1:g.28756C>G, NM_000781.3:c.632C>T, NM_000781.3:c.632C>G, NM_000781.2:c.632C>T, NM_000781.2:c.632C>G, NM_001099773.2:c.158C>T, NM_001099773.2:c.158C>G, NM_001099773.1:c.158C>T, NM_001099773.1:c.158C>G, NW_021160016.1:g.173255G>A, NW_021160016.1:g.173255G>C, NP_000772.2:p.Thr211Ile, NP_000772.2:p.Thr211Ser, NP_001093243.1:p.Thr53Ile, NP_001093243.1:p.Thr53Ser

Select item 146142306413.

rs1461423064 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:74343875 (GRCh38)
15:74636216 (GRCh37)
Canonical SPDI:: NC_000015.10:74343874:A:G
Gene:: CYP11A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.74343875A>G, NC_000015.9:g.74636216A>G, NG_007973.2:g.28771T>C, NG_007973.1:g.28867T>C, NM_000781.3:c.743T>C, NM_000781.2:c.743T>C, NM_001099773.2:c.269T>C, NM_001099773.1:c.269T>C, NW_021160016.1:g.173144A>G, NP_000772.2:p.Leu248Pro, NP_001093243.1:p.Leu90Pro

Select item 145930579814.

rs1459305798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:74343111 (GRCh38)
15:74635452 (GRCh37)
Canonical SPDI:: NC_000015.10:74343110:A:G
Gene:: CYP11A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000015.10:g.74343111A>G, NC_000015.9:g.74635452A>G, NG_007973.2:g.29535T>C, NG_007973.1:g.29631T>C, NM_000781.3:c.856T>C, NM_000781.2:c.856T>C, NM_001099773.2:c.382T>C, NM_001099773.1:c.382T>C, NW_021160016.1:g.172380A>G, NP_000772.2:p.Trp286Arg, NP_001093243.1:p.Trp128Arg

Select item 145912217915.

rs1459122179 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTC [Show Flanks]
Chromosome:: 15:74343944 (GRCh38)
15:74636286 (GRCh37)
Canonical SPDI:: NC_000015.10:74343944:CTTC:CTTCTTC
Gene:: CYP11A1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: CTTCTTC=0./0 (ALFA)
CTT=0.000004/1 (GnomAD_exomes)
CTT=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.74343946_74343948dup, NC_000015.9:g.74636287_74636289dup, NG_007973.2:g.28699_28701dup, NG_007973.1:g.28795_28797dup, NM_000781.3:c.671_673dup, NM_000781.2:c.671_673dup, NM_001099773.2:c.197_199dup, NM_001099773.1:c.197_199dup, NW_021160016.1:g.173215_173217dup, NP_000772.2:p.Glu224dup, NP_001093243.1:p.Glu66dup

Select item 145774878216.

rs1457748782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74338725 (GRCh38)
15:74631066 (GRCh37)
Canonical SPDI:: NC_000015.10:74338724:G:A
Gene:: CYP11A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74338725G>A, NC_000015.9:g.74631066G>A, NG_007973.2:g.33921C>T, NG_007973.1:g.34017C>T, NM_000781.3:c.1280C>T, NM_000781.2:c.1280C>T, NM_001099773.2:c.806C>T, NM_001099773.1:c.806C>T, NW_021160016.1:g.167994G>A, NP_000772.2:p.Thr427Ile, NP_001093243.1:p.Thr269Ile

Select item 145432807217.

rs1454328072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74339260 (GRCh38)
15:74631601 (GRCh37)
Canonical SPDI:: NC_000015.10:74339259:G:A
Gene:: CYP11A1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.74339260G>A, NC_000015.9:g.74631601G>A, NG_007973.2:g.33386C>T, NG_007973.1:g.33482C>T, NM_000781.3:c.1213C>T, NM_000781.2:c.1213C>T, NM_001099773.2:c.739C>T, NM_001099773.1:c.739C>T, NW_021160016.1:g.168529G>A, NP_000772.2:p.Arg405Ter, NP_001093243.1:p.Arg247Ter

Select item 145064332718.

rs1450643327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:74338744 (GRCh38)
15:74631085 (GRCh37)
Canonical SPDI:: NC_000015.10:74338743:C:T
Gene:: CYP11A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000015.10:g.74338744C>T, NC_000015.9:g.74631085C>T, NG_007973.2:g.33902G>A, NG_007973.1:g.33998G>A, NM_000781.3:c.1261G>A, NM_000781.2:c.1261G>A, NM_001099773.2:c.787G>A, NM_001099773.1:c.787G>A, NW_021160016.1:g.168013C>T, NP_000772.2:p.Ala421Thr, NP_001093243.1:p.Ala263Thr

Select item 144807516119.

rs1448075161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:74339242 (GRCh38)
15:74631583 (GRCh37)
Canonical SPDI:: NC_000015.10:74339241:C:T
Gene:: CYP11A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74339242C>T, NC_000015.9:g.74631583C>T, NG_007973.2:g.33404G>A, NG_007973.1:g.33500G>A, NM_000781.3:c.1231G>A, NM_000781.2:c.1231G>A, NM_001099773.2:c.757G>A, NM_001099773.1:c.757G>A, NW_021160016.1:g.168511C>T, NP_000772.2:p.Ala411Thr, NP_001093243.1:p.Ala253Thr

Select item 144655188720.

rs1446551887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:74339665 (GRCh38)
15:74632006 (GRCh37)
Canonical SPDI:: NC_000015.10:74339664:C:T
Gene:: CYP11A1 (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=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.74339665C>T, NC_000015.9:g.74632006C>T, NG_007973.2:g.32981G>A, NG_007973.1:g.33077G>A, NM_000781.3:c.1079G>A, NM_000781.2:c.1079G>A, NM_001099773.2:c.605G>A, NM_001099773.1:c.605G>A, NW_021160016.1:g.168934C>T, NP_000772.2:p.Arg360Gln, NP_001093243.1:p.Arg202Gln

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