SNP Links for Protein (Select 4503199) - SNP

Links from Protein

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Select item 14907176001.

rs1490717600 [Homo sapiens]

Variant type:: DEL
Alleles:: TGAA>- [Show Flanks]
Chromosome:: 15:74722788 (GRCh38)
15:75015129 (GRCh37)
Canonical SPDI:: NC_000015.10:74722787:TGAA:
Gene:: CYP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.74722788_74722791del, NC_000015.9:g.75015129_75015132del, NG_008431.2:g.5247_5250del, NM_000499.4:c.307_310del, NM_000499.5:c.307_310del, NM_000499.3:c.307_310del, NM_001319216.1:c.307_310del, NM_001319216.2:c.307_310del, NM_001319217.1:c.307_310del, NM_001319217.2:c.307_310del, NG_061374.1:g.7738_7741del, NP_000490.1:p.Phe103fs, NP_001306145.1:p.Phe103fs, NP_001306146.1:p.Phe103fs

Select item 14905496802.

rs1490549680 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:74723006 (GRCh38)
15:75015347 (GRCh37)
Canonical SPDI:: NC_000015.10:74723005:G:C
Gene:: CYP1A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74723006G>C, NC_000015.9:g.75015347G>C, NG_008431.2:g.5465G>C, NM_000499.4:c.92C>G, NM_000499.5:c.92C>G, NM_000499.3:c.92C>G, NM_001319216.1:c.92C>G, NM_001319216.2:c.92C>G, NM_001319217.1:c.92C>G, NM_001319217.2:c.92C>G, NG_061374.1:g.7523C>G, NP_000490.1:p.Pro31Arg, NP_001306145.1:p.Pro31Arg, NP_001306146.1:p.Pro31Arg

Select item 14892657303.

rs1489265730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:74721619 (GRCh38)
15:75013960 (GRCh37)
Canonical SPDI:: NC_000015.10:74721618:A:C
Gene:: CYP1A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74721619A>C, NC_000015.9:g.75013960A>C, NG_008431.2:g.4078A>C, NM_000499.4:c.924T>G, NM_000499.5:c.924T>G, NM_000499.3:c.924T>G, NM_001319216.1:c.924T>G, NM_001319216.2:c.924T>G, NM_001319217.1:c.924T>G, NM_001319217.2:c.924T>G, NG_061374.1:g.8910T>G, NP_000490.1:p.Ile308Met, NP_001306145.1:p.Ile308Met, NP_001306146.1:p.Ile308Met

Select item 14831353854.

rs1483135385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74721690 (GRCh38)
15:75014031 (GRCh37)
Canonical SPDI:: NC_000015.10:74721689:G:A
Gene:: CYP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74721690G>A, NC_000015.9:g.75014031G>A, NG_008431.2:g.4149G>A, NM_000499.4:c.853C>T, NM_000499.5:c.853C>T, NM_000499.3:c.853C>T, NM_001319216.1:c.853C>T, NM_001319216.2:c.853C>T, NM_001319217.1:c.853C>T, NM_001319217.2:c.853C>T, NG_061374.1:g.8839C>T

Select item 14805443555.

rs1480544355 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACCAC [Show Flanks]
Chromosome:: 15:74722845 (GRCh38)
15:75015187 (GRCh37)
Canonical SPDI:: NC_000015.10:74722845:CACCAC:CACCACACCAC
Gene:: CYP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: CACCA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74722847_74722851dup, NC_000015.9:g.75015188_75015192dup, NG_008431.2:g.5306_5310dup, NM_000499.4:c.248_252dup, NM_000499.5:c.248_252dup, NM_000499.3:c.248_252dup, NM_001319216.1:c.248_252dup, NM_001319216.2:c.248_252dup, NM_001319217.1:c.248_252dup, NM_001319217.2:c.248_252dup, NG_061374.1:g.7679_7683dup, NP_000490.1:p.Val85fs, NP_001306145.1:p.Val85fs, NP_001306146.1:p.Val85fs

Select item 14801869846.

rs1480186984 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:74721264 (GRCh38)
15:75013605 (GRCh37)
Canonical SPDI:: NC_000015.10:74721263:A:C,NC_000015.10:74721263:A:G
Gene:: CYP1A1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.74721264A>C, NC_000015.10:g.74721264A>G, NC_000015.9:g.75013605A>C, NC_000015.9:g.75013605A>G, NG_008431.2:g.3723A>C, NG_008431.2:g.3723A>G, NM_000499.4:c.1101T>G, NM_000499.4:c.1101T>C, NM_000499.5:c.1101T>G, NM_000499.5:c.1101T>C, NM_000499.3:c.1101T>G, NM_000499.3:c.1101T>C, NM_001319216.1:c.1101T>G, NM_001319216.1:c.1101T>C, NM_001319216.2:c.1101T>G, NM_001319216.2:c.1101T>C, NM_001319217.1:c.1101T>G, NM_001319217.1:c.1101T>C, NM_001319217.2:c.1101T>G, NM_001319217.2:c.1101T>C, NG_061374.1:g.9265T>G, NG_061374.1:g.9265T>C, NP_000490.1:p.Tyr367Ter, NP_001306145.1:p.Tyr367Ter, NP_001306146.1:p.Tyr367Ter

Select item 14739901437.

rs1473990143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:74722792 (GRCh38)
15:75015133 (GRCh37)
Canonical SPDI:: NC_000015.10:74722791:A:C,NC_000015.10:74722791:A:G
Gene:: CYP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.74722792A>C, NC_000015.10:g.74722792A>G, NC_000015.9:g.75015133A>C, NC_000015.9:g.75015133A>G, NG_008431.2:g.5251A>C, NG_008431.2:g.5251A>G, NM_000499.4:c.306T>G, NM_000499.4:c.306T>C, NM_000499.5:c.306T>G, NM_000499.5:c.306T>C, NM_000499.3:c.306T>G, NM_000499.3:c.306T>C, NM_001319216.1:c.306T>G, NM_001319216.1:c.306T>C, NM_001319216.2:c.306T>G, NM_001319216.2:c.306T>C, NM_001319217.1:c.306T>G, NM_001319217.1:c.306T>C, NM_001319217.2:c.306T>G, NM_001319217.2:c.306T>C, NG_061374.1:g.7737T>G, NG_061374.1:g.7737T>C, NP_000490.1:p.Asp102Glu, NP_001306145.1:p.Asp102Glu, NP_001306146.1:p.Asp102Glu

Select item 14719488768.

rs1471948876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:74721000 (GRCh38)
15:75013341 (GRCh37)
Canonical SPDI:: NC_000015.10:74720999:A:T
Gene:: CYP1A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.74721000A>T, NC_000015.9:g.75013341A>T, NG_008431.2:g.3459A>T, NM_000499.4:c.1220T>A, NM_000499.5:c.1220T>A, NM_000499.3:c.1220T>A, NM_001319217.1:c.1220T>A, NM_001319217.2:c.1220T>A, NG_061374.1:g.9529T>A, NP_000490.1:p.Val407Asp, NP_001306146.1:p.Val407Asp

Select item 14716731679.

rs1471673167 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:74720604 (GRCh38)
15:75012945 (GRCh37)
Canonical SPDI:: NC_000015.10:74720603:A:G,NC_000015.10:74720603:A:T
Gene:: CYP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.74720604A>G, NC_000015.10:g.74720604A>T, NC_000015.9:g.75012945A>G, NC_000015.9:g.75012945A>T, NG_008431.2:g.3063A>G, NG_008431.2:g.3063A>T, NM_000499.4:c.1424T>C, NM_000499.4:c.1424T>A, NM_000499.5:c.1424T>C, NM_000499.5:c.1424T>A, NM_000499.3:c.1424T>C, NM_000499.3:c.1424T>A, NM_001319216.1:c.1337T>C, NM_001319216.1:c.1337T>A, NM_001319216.2:c.1337T>C, NM_001319216.2:c.1337T>A, NM_001319217.1:c.1424T>C, NM_001319217.1:c.1424T>A, NM_001319217.2:c.1424T>C, NM_001319217.2:c.1424T>A, NG_061374.1:g.9925T>C, NG_061374.1:g.9925T>A, NP_000490.1:p.Leu475Pro, NP_000490.1:p.Leu475Gln, NP_001306145.1:p.Leu446Pro, NP_001306145.1:p.Leu446Gln, NP_001306146.1:p.Leu475Pro, NP_001306146.1:p.Leu475Gln

Select item 147126124210.

rs1471261242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74722689 (GRCh38)
15:75015030 (GRCh37)
Canonical SPDI:: NC_000015.10:74722688:G:A
Gene:: CYP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74722689G>A, NC_000015.9:g.75015030G>A, NG_008431.2:g.5148G>A, NM_000499.4:c.409C>T, NM_000499.5:c.409C>T, NM_000499.3:c.409C>T, NM_001319216.1:c.409C>T, NM_001319216.2:c.409C>T, NM_001319217.1:c.409C>T, NM_001319217.2:c.409C>T, NG_061374.1:g.7840C>T

Select item 146973468311.

rs1469734683 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:74722344 (GRCh38)
15:75014685 (GRCh37)
Canonical SPDI:: NC_000015.10:74722343:T:G
Gene:: CYP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000015.10:g.74722344T>G, NC_000015.9:g.75014685T>G, NG_008431.2:g.4803T>G, NM_000499.4:c.754A>C, NM_000499.5:c.754A>C, NM_000499.3:c.754A>C, NM_001319216.1:c.754A>C, NM_001319216.2:c.754A>C, NM_001319217.1:c.754A>C, NM_001319217.2:c.754A>C, NG_061374.1:g.8185A>C, NP_000490.1:p.Lys252Gln, NP_001306145.1:p.Lys252Gln, NP_001306146.1:p.Lys252Gln

Select item 146656168312.

rs1466561683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74721207 (GRCh38)
15:75013548 (GRCh37)
Canonical SPDI:: NC_000015.10:74721206:G:A
Gene:: CYP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74721207G>A, NC_000015.9:g.75013548G>A, NG_008431.2:g.3666G>A, NM_000499.4:c.1158C>T, NM_000499.5:c.1158C>T, NM_000499.3:c.1158C>T, NM_001319216.1:c.1158C>T, NM_001319216.2:c.1158C>T, NM_001319217.1:c.1158C>T, NM_001319217.2:c.1158C>T, NG_061374.1:g.9322C>T

Select item 146585627213.

rs1465856272 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 15:74722970 (GRCh38)
15:75015311 (GRCh37)
Canonical SPDI:: NC_000015.10:74722969:GG:G
Gene:: CYP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.74722971del, NC_000015.9:g.75015312del, NG_008431.2:g.5430del, NM_000499.4:c.128del, NM_000499.5:c.128del, NM_000499.3:c.128del, NM_001319216.1:c.128del, NM_001319216.2:c.128del, NM_001319217.1:c.128del, NM_001319217.2:c.128del, NG_061374.1:g.7559del, NP_000490.1:p.Pro43fs, NP_001306145.1:p.Pro43fs, NP_001306146.1:p.Pro43fs

Select item 146582882814.

rs1465828828 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:74720542 (GRCh38)
15:75012884 (GRCh37)
Canonical SPDI:: NC_000015.10:74720542:CCC:CCCC
Gene:: CYP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74720545dup, NC_000015.9:g.75012886dup, NG_008431.2:g.3004dup, NM_000499.4:c.1485dup, NM_000499.5:c.1485dup, NM_000499.3:c.1485dup, NM_001319216.1:c.1398dup, NM_001319216.2:c.1398dup, NM_001319217.1:c.1485dup, NM_001319217.2:c.1485dup, NG_061374.1:g.9986dup, NP_000490.1:p.Leu496fs, NP_001306145.1:p.Leu467fs, NP_001306146.1:p.Leu496fs

Select item 146505792915.

rs1465057929 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:74722908 (GRCh38)
15:75015249 (GRCh37)
Canonical SPDI:: NC_000015.10:74722907:A:G
Gene:: CYP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74722908A>G, NC_000015.9:g.75015249A>G, NG_008431.2:g.5367A>G, NM_000499.4:c.190T>C, NM_000499.5:c.190T>C, NM_000499.3:c.190T>C, NM_001319216.1:c.190T>C, NM_001319216.2:c.190T>C, NM_001319217.1:c.190T>C, NM_001319217.2:c.190T>C, NG_061374.1:g.7621T>C, NP_000490.1:p.Ser64Pro, NP_001306145.1:p.Ser64Pro, NP_001306146.1:p.Ser64Pro

Select item 146378644716.

rs1463786447 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74722459 (GRCh38)
15:75014800 (GRCh37)
Canonical SPDI:: NC_000015.10:74722458:T:C
Gene:: CYP1A1 (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=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.74722459T>C, NC_000015.9:g.75014800T>C, NG_008431.2:g.4918T>C, NM_000499.4:c.639A>G, NM_000499.5:c.639A>G, NM_000499.3:c.639A>G, NM_001319216.1:c.639A>G, NM_001319216.2:c.639A>G, NM_001319217.1:c.639A>G, NM_001319217.2:c.639A>G, NG_061374.1:g.8070A>G

Select item 146165608617.

rs1461656086 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:74722578 (GRCh38)
15:75014919 (GRCh37)
Canonical SPDI:: NC_000015.10:74722577:A:G
Gene:: CYP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74722578A>G, NC_000015.9:g.75014919A>G, NG_008431.2:g.5037A>G, NM_000499.4:c.520T>C, NM_000499.5:c.520T>C, NM_000499.3:c.520T>C, NM_001319216.1:c.520T>C, NM_001319216.2:c.520T>C, NM_001319217.1:c.520T>C, NM_001319217.2:c.520T>C, NG_061374.1:g.7951T>C

Select item 146068800118.

rs1460688001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:74722653 (GRCh38)
15:75014994 (GRCh37)
Canonical SPDI:: NC_000015.10:74722652:A:G
Gene:: CYP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74722653A>G, NC_000015.9:g.75014994A>G, NG_008431.2:g.5112A>G, NM_000499.4:c.445T>C, NM_000499.5:c.445T>C, NM_000499.3:c.445T>C, NM_001319216.1:c.445T>C, NM_001319216.2:c.445T>C, NM_001319217.1:c.445T>C, NM_001319217.2:c.445T>C, NG_061374.1:g.7876T>C, NP_000490.1:p.Ser149Pro, NP_001306145.1:p.Ser149Pro, NP_001306146.1:p.Ser149Pro

Select item 146038902619.

rs1460389026 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:74720721 (GRCh38)
15:75013062 (GRCh37)
Canonical SPDI:: NC_000015.10:74720720:T:A,NC_000015.10:74720720:T:C
Gene:: CYP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.74720721T>A, NC_000015.10:g.74720721T>C, NC_000015.9:g.75013062T>A, NC_000015.9:g.75013062T>C, NG_008431.2:g.3180T>A, NG_008431.2:g.3180T>C, NM_000499.4:c.1307A>T, NM_000499.4:c.1307A>G, NM_000499.5:c.1307A>T, NM_000499.5:c.1307A>G, NM_000499.3:c.1307A>T, NM_000499.3:c.1307A>G, NM_001319216.1:c.1220A>T, NM_001319216.1:c.1220A>G, NM_001319216.2:c.1220A>T, NM_001319216.2:c.1220A>G, NM_001319217.1:c.1307A>T, NM_001319217.1:c.1307A>G, NM_001319217.2:c.1307A>T, NM_001319217.2:c.1307A>G, NG_061374.1:g.9808A>T, NG_061374.1:g.9808A>G, NP_000490.1:p.Asp436Val, NP_000490.1:p.Asp436Gly, NP_001306145.1:p.Asp407Val, NP_001306145.1:p.Asp407Gly, NP_001306146.1:p.Asp436Val, NP_001306146.1:p.Asp436Gly

Select item 145006971320.

rs1450069713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:74722868 (GRCh38)
15:75015209 (GRCh37)
Canonical SPDI:: NC_000015.10:74722867:C:A,NC_000015.10:74722867:C:T
Gene:: CYP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.74722868C>A, NC_000015.10:g.74722868C>T, NC_000015.9:g.75015209C>A, NC_000015.9:g.75015209C>T, NG_008431.2:g.5327C>A, NG_008431.2:g.5327C>T, NM_000499.4:c.230G>T, NM_000499.4:c.230G>A, NM_000499.5:c.230G>T, NM_000499.5:c.230G>A, NM_000499.3:c.230G>T, NM_000499.3:c.230G>A, NM_001319216.1:c.230G>T, NM_001319216.1:c.230G>A, NM_001319216.2:c.230G>T, NM_001319216.2:c.230G>A, NM_001319217.1:c.230G>T, NM_001319217.1:c.230G>A, NM_001319217.2:c.230G>T, NM_001319217.2:c.230G>A, NG_061374.1:g.7661G>T, NG_061374.1:g.7661G>A, NP_000490.1:p.Arg77Leu, NP_000490.1:p.Arg77Gln, NP_001306145.1:p.Arg77Leu, NP_001306145.1:p.Arg77Gln, NP_001306146.1:p.Arg77Leu, NP_001306146.1:p.Arg77Gln

dbSNP

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Global MAF

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