SNP Links for Protein (Select 4503211) - SNP

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Links from Protein

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Select item 14904862281.

rs1490486228 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCT [Show Flanks]
Chromosome:: 2:218814026 (GRCh38)
2:219678750 (GRCh37)
Canonical SPDI:: NC_000002.12:218814026:AACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCT:AACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCT
Gene:: CYP27A1 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency
MAF:: AACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218814027_218814068dup, NC_000002.11:g.219678750_219678791dup, NG_007959.1:g.37279_37320dup, NM_000784.4:c.1024_1065dup, NM_000784.3:c.1024_1065dup, NP_000775.1:p.Asn342_Pro355dup

Select item 14879449102.

rs1487944910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218812369 (GRCh38)
2:219677092 (GRCh37)
Canonical SPDI:: NC_000002.12:218812368:G:A
Gene:: CYP27A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.218812369G>A, NC_000002.11:g.219677092G>A, NG_007959.1:g.35621G>A, NM_000784.4:c.594G>A, NM_000784.3:c.594G>A

Select item 14857884703.

rs1485788470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218814915 (GRCh38)
2:219679638 (GRCh37)
Canonical SPDI:: NC_000002.12:218814914:T:C
Gene:: CYP27A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.218814915T>C, NC_000002.11:g.219679638T>C, NG_007959.1:g.38167T>C, NM_000784.4:c.1481T>C, NM_000784.3:c.1481T>C, NP_000775.1:p.Ile494Thr

Select item 14833940324.

rs1483394032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:218812600 (GRCh38)
2:219677323 (GRCh37)
Canonical SPDI:: NC_000002.12:218812599:C:A,NC_000002.12:218812599:C:T
Gene:: CYP27A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.218812600C>A, NC_000002.12:g.218812600C>T, NC_000002.11:g.219677323C>A, NC_000002.11:g.219677323C>T, NG_007959.1:g.35852C>A, NG_007959.1:g.35852C>T, NM_000784.4:c.695C>A, NM_000784.4:c.695C>T, NM_000784.3:c.695C>A, NM_000784.3:c.695C>T, NP_000775.1:p.Ser232Tyr, NP_000775.1:p.Ser232Phe

Select item 14829872455.

rs1482987245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:218814161 (GRCh38)
2:219678884 (GRCh37)
Canonical SPDI:: NC_000002.12:218814160:C:G
Gene:: CYP27A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218814161C>G, NC_000002.11:g.219678884C>G, NG_007959.1:g.37413C>G, NM_000784.4:c.1158C>G, NM_000784.3:c.1158C>G

Select item 14818944646.

rs1481894464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218815027 (GRCh38)
2:219679750 (GRCh37)
Canonical SPDI:: NC_000002.12:218815026:C:T
Gene:: CYP27A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218815027C>T, NC_000002.11:g.219679750C>T, NG_007959.1:g.38279C>T, NM_000784.4:c.1593C>T, NM_000784.3:c.1593C>T

Select item 14817793837.

rs1481779383 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218812410 (GRCh38)
2:219677133 (GRCh37)
Canonical SPDI:: NC_000002.12:218812409:T:C
Gene:: CYP27A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000002.12:g.218812410T>C, NC_000002.11:g.219677133T>C, NG_007959.1:g.35662T>C, NM_000784.4:c.635T>C, NM_000784.3:c.635T>C, NP_000775.1:p.Phe212Ser

Select item 14801100048.

rs1480110004 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218814630 (GRCh38)
2:219679353 (GRCh37)
Canonical SPDI:: NC_000002.12:218814629:T:C
Gene:: CYP27A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218814630T>C, NC_000002.11:g.219679353T>C, NG_007959.1:g.37882T>C, NM_000784.4:c.1349T>C, NM_000784.3:c.1349T>C, NP_000775.1:p.Leu450Pro

Select item 14778235489.

rs1477823548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:218809762 (GRCh38)
2:219674485 (GRCh37)
Canonical SPDI:: NC_000002.12:218809761:C:G
Gene:: CYP27A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218809762C>G, NC_000002.11:g.219674485C>G, NG_007959.1:g.33014C>G, NM_000784.4:c.441C>G, NM_000784.3:c.441C>G, NP_000775.1:p.Phe147Leu

Select item 147717282510.

rs1477172825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218812725 (GRCh38)
2:219677448 (GRCh37)
Canonical SPDI:: NC_000002.12:218812724:G:A
Gene:: CYP27A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218812725G>A, NC_000002.11:g.219677448G>A, NG_007959.1:g.35977G>A, NM_000784.4:c.820G>A, NM_000784.3:c.820G>A, NP_000775.1:p.Gly274Ser

Select item 147586706011.

rs1475867060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218782199 (GRCh38)
2:219646922 (GRCh37)
Canonical SPDI:: NC_000002.12:218782198:G:A
Gene:: CYP27A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.218782199G>A, NC_000002.11:g.219646922G>A, NG_007959.1:g.5451G>A, NM_000784.4:c.17G>A, NM_000784.3:c.17G>A, NP_000775.1:p.Cys6Tyr

Select item 147550463612.

rs1475504636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218814697 (GRCh38)
2:219679420 (GRCh37)
Canonical SPDI:: NC_000002.12:218814696:G:A
Gene:: CYP27A1 (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)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.218814697G>A, NC_000002.11:g.219679420G>A, NG_007959.1:g.37949G>A, NM_000784.4:c.1416G>A, NM_000784.3:c.1416G>A

Select item 147060273213.

rs1470602732 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:218814055 (GRCh38)
2:219678778 (GRCh37)
Canonical SPDI:: NC_000002.12:218814054:T:G
Gene:: CYP27A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218814055T>G, NC_000002.11:g.219678778T>G, NG_007959.1:g.37307T>G, NM_000784.4:c.1052T>G, NM_000784.3:c.1052T>G, NP_000775.1:p.Leu351Arg

Select item 147055679514.

rs1470556795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218782350 (GRCh38)
2:219647073 (GRCh37)
Canonical SPDI:: NC_000002.12:218782349:C:T
Gene:: CYP27A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.218782350C>T, NC_000002.11:g.219647073C>T, NG_007959.1:g.5602C>T, NM_000784.4:c.168C>T, NM_000784.3:c.168C>T

Select item 146638493815.

rs1466384938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218782318 (GRCh38)
2:219647041 (GRCh37)
Canonical SPDI:: NC_000002.12:218782317:G:A
Gene:: CYP27A1 (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=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218782318G>A, NC_000002.11:g.219647041G>A, NG_007959.1:g.5570G>A, NM_000784.4:c.136G>A, NM_000784.3:c.136G>A, NP_000775.1:p.Ala46Thr

Select item 146570933316.

rs1465709333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:218809722 (GRCh38)
2:219674445 (GRCh37)
Canonical SPDI:: NC_000002.12:218809721:A:C
Gene:: CYP27A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.002973/50 (TOMMO)
HGVS:: NC_000002.12:g.218809722A>C, NC_000002.11:g.219674445A>C, NG_007959.1:g.32974A>C, NM_000784.4:c.401A>C, NM_000784.3:c.401A>C, NP_000775.1:p.Lys134Thr

Select item 146395033717.

rs1463950337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:218814081 (GRCh38)
2:219678804 (GRCh37)
Canonical SPDI:: NC_000002.12:218814080:G:A,NC_000002.12:218814080:G:C
Gene:: CYP27A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.218814081G>A, NC_000002.12:g.218814081G>C, NC_000002.11:g.219678804G>A, NC_000002.11:g.219678804G>C, NG_007959.1:g.37333G>A, NG_007959.1:g.37333G>C, NM_000784.4:c.1078G>A, NM_000784.4:c.1078G>C, NM_000784.3:c.1078G>A, NM_000784.3:c.1078G>C, NP_000775.1:p.Ala360Thr, NP_000775.1:p.Ala360Pro

Select item 146242857918.

rs1462428579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218814548 (GRCh38)
2:219679271 (GRCh37)
Canonical SPDI:: NC_000002.12:218814547:C:T
Gene:: CYP27A1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218814548C>T, NC_000002.11:g.219679271C>T, NG_007959.1:g.37800C>T, NM_000784.4:c.1267C>T, NM_000784.3:c.1267C>T, NP_000775.1:p.Gln423Ter

Select item 146130452419.

rs1461304524 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:218814989 (GRCh38)
2:219679712 (GRCh37)
Canonical SPDI:: NC_000002.12:218814988:A:G
Gene:: CYP27A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.218814989A>G, NC_000002.11:g.219679712A>G, NG_007959.1:g.38241A>G, NM_000784.4:c.1555A>G, NM_000784.3:c.1555A>G, NP_000775.1:p.Asn519Asp

Select item 146038104320.

rs1460381043 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218812656 (GRCh38)
2:219677379 (GRCh37)
Canonical SPDI:: NC_000002.12:218812655:T:C
Gene:: CYP27A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.218812656T>C, NC_000002.11:g.219677379T>C, NG_007959.1:g.35908T>C, NM_000784.4:c.751T>C, NM_000784.3:c.751T>C, NP_000775.1:p.Ser251Pro

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