SNP Links for Protein (Select 4503243) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 453

<< First< Prev

Page of 23

Next >Last >>

Select item 14896827581.

rs1489682758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:92117093 (GRCh38)
7:91746407 (GRCh37)
Canonical SPDI:: NC_000007.14:92117092:C:A
Gene:: CYP51A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.92117093C>A, NC_000007.13:g.91746407C>A, NG_007968.1:g.22434G>T, NM_000786.4:c.1302G>T, NM_000786.3:c.1302G>T, NM_001146152.2:c.987G>T, NM_001146152.1:c.987G>T, NP_000777.1:p.Gln434His, NP_001139624.1:p.Gln329His

Select item 14873107792.

rs1487310779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:92126278 (GRCh38)
7:91755592 (GRCh37)
Canonical SPDI:: NC_000007.14:92126277:C:T
Gene:: CYP51A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.92126278C>T, NC_000007.13:g.91755592C>T, NG_007968.1:g.13249G>A, NM_000786.4:c.745G>A, NM_000786.3:c.745G>A, NM_001146152.2:c.430G>A, NM_001146152.1:c.430G>A, NP_000777.1:p.Gly249Ser, NP_001139624.1:p.Gly144Ser

Select item 14867564373.

rs1486756437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:92127623 (GRCh38)
7:91756937 (GRCh37)
Canonical SPDI:: NC_000007.14:92127622:C:T
Gene:: CYP51A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.92127623C>T, NC_000007.13:g.91756937C>T, NG_007968.1:g.11904G>A, NM_000786.4:c.477G>A, NM_000786.3:c.477G>A, NM_001146152.2:c.162G>A, NM_001146152.1:c.162G>A

Select item 14866192284.

rs1486619228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:92126307 (GRCh38)
7:91755621 (GRCh37)
Canonical SPDI:: NC_000007.14:92126306:C:T
Gene:: CYP51A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.92126307C>T, NC_000007.13:g.91755621C>T, NG_007968.1:g.13220G>A, NM_000786.4:c.716G>A, NM_000786.3:c.716G>A, NM_001146152.2:c.401G>A, NM_001146152.1:c.401G>A, NP_000777.1:p.Gly239Asp, NP_001139624.1:p.Gly134Asp

Select item 14862815515.

rs1486281551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:92123120 (GRCh38)
7:91752434 (GRCh37)
Canonical SPDI:: NC_000007.14:92123119:C:T
Gene:: CYP51A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.92123120C>T, NC_000007.13:g.91752434C>T, NG_007968.1:g.16407G>A, NM_000786.4:c.1086G>A, NM_000786.3:c.1086G>A, NM_001146152.2:c.771G>A, NM_001146152.1:c.771G>A

Select item 14855817536.

rs1485581753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:92134320 (GRCh38)
7:91763634 (GRCh37)
Canonical SPDI:: NC_000007.14:92134319:C:T
Gene:: CYP51A1 (Varview), CYP51A1-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.92134320C>T, NC_000007.13:g.91763634C>T, NG_007968.1:g.5207G>A, NM_000786.4:c.45G>A, NM_000786.3:c.45G>A

Select item 14820340687.

rs1482034068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:92123139 (GRCh38)
7:91752453 (GRCh37)
Canonical SPDI:: NC_000007.14:92123138:G:A
Gene:: CYP51A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.92123139G>A, NC_000007.13:g.91752453G>A, NG_007968.1:g.16388C>T, NM_000786.4:c.1067C>T, NM_000786.3:c.1067C>T, NM_001146152.2:c.752C>T, NM_001146152.1:c.752C>T, NP_000777.1:p.Pro356Leu, NP_001139624.1:p.Pro251Leu

Select item 14812186198.

rs1481218619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:92134302 (GRCh38)
7:91763616 (GRCh37)
Canonical SPDI:: NC_000007.14:92134301:G:A
Gene:: CYP51A1 (Varview), CYP51A1-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.92134302G>A, NC_000007.13:g.91763616G>A, NG_007968.1:g.5225C>T, NM_000786.4:c.63C>T, NM_000786.3:c.63C>T

Select item 14757106719.

rs1475710671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:92123807 (GRCh38)
7:91753121 (GRCh37)
Canonical SPDI:: NC_000007.14:92123806:C:G
Gene:: CYP51A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.92123807C>G, NC_000007.13:g.91753121C>G, NG_007968.1:g.15720G>C, NM_000786.4:c.817G>C, NM_000786.3:c.817G>C, NM_001146152.2:c.502G>C, NM_001146152.1:c.502G>C, NP_000777.1:p.Ala273Pro, NP_001139624.1:p.Ala168Pro

Select item 147232157510.

rs1472321575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:92127507 (GRCh38)
7:91756821 (GRCh37)
Canonical SPDI:: NC_000007.14:92127506:T:C
Gene:: CYP51A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.92127507T>C, NC_000007.13:g.91756821T>C, NG_007968.1:g.12020A>G, NM_000786.4:c.593A>G, NM_000786.3:c.593A>G, NM_001146152.2:c.278A>G, NM_001146152.1:c.278A>G, NP_000777.1:p.Lys198Arg, NP_001139624.1:p.Lys93Arg

Select item 146937817711.

rs1469378177 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:92126401 (GRCh38)
7:91755715 (GRCh37)
Canonical SPDI:: NC_000007.14:92126400:T:A,NC_000007.14:92126400:T:C,NC_000007.14:92126400:T:G
Gene:: CYP51A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.92126401T>A, NC_000007.14:g.92126401T>C, NC_000007.14:g.92126401T>G, NC_000007.13:g.91755715T>A, NC_000007.13:g.91755715T>C, NC_000007.13:g.91755715T>G, NG_007968.1:g.13126A>T, NG_007968.1:g.13126A>G, NG_007968.1:g.13126A>C, NM_000786.4:c.622A>T, NM_000786.4:c.622A>G, NM_000786.4:c.622A>C, NM_000786.3:c.622A>T, NM_000786.3:c.622A>G, NM_000786.3:c.622A>C, NM_001146152.2:c.307A>T, NM_001146152.2:c.307A>G, NM_001146152.2:c.307A>C, NM_001146152.1:c.307A>T, NM_001146152.1:c.307A>G, NM_001146152.1:c.307A>C, NP_000777.1:p.Ile208Leu, NP_000777.1:p.Ile208Val, NP_000777.1:p.Ile208Leu, NP_001139624.1:p.Ile103Leu, NP_001139624.1:p.Ile103Val, NP_001139624.1:p.Ile103Leu

Select item 146446678312.

rs1464466783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:92123832 (GRCh38)
7:91753146 (GRCh37)
Canonical SPDI:: NC_000007.14:92123831:C:T
Gene:: CYP51A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.92123832C>T, NC_000007.13:g.91753146C>T, NG_007968.1:g.15695G>A, NM_000786.4:c.792G>A, NM_000786.3:c.792G>A, NM_001146152.2:c.477G>A, NM_001146152.1:c.477G>A

Select item 146381815613.

rs1463818156 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:92123297 (GRCh38)
7:91752611 (GRCh37)
Canonical SPDI:: NC_000007.14:92123296:A:G
Gene:: CYP51A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.92123297A>G, NC_000007.13:g.91752611A>G, NG_007968.1:g.16230T>C, NM_000786.4:c.909T>C, NM_000786.3:c.909T>C, NM_001146152.2:c.594T>C, NM_001146152.1:c.594T>C

Select item 146371998414.

rs1463719984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:92113707 (GRCh38)
7:91743021 (GRCh37)
Canonical SPDI:: NC_000007.14:92113706:G:A
Gene:: CYP51A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.92113707G>A, NC_000007.13:g.91743021G>A, NG_007968.1:g.25820C>T, NM_000786.4:c.1488C>T, NM_000786.3:c.1488C>T, NM_001146152.2:c.1173C>T, NM_001146152.1:c.1173C>T

Select item 146173463115.

rs1461734631 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:92131871 (GRCh38)
7:91761185 (GRCh37)
Canonical SPDI:: NC_000007.14:92131870:T:C
Gene:: CYP51A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.92131871T>C, NC_000007.13:g.91761185T>C, NG_007968.1:g.7656A>G, NM_000786.4:c.194A>G, NM_000786.3:c.194A>G, NM_001146152.2:c.-122A>G, NM_001146152.1:c.-122A>G, NP_000777.1:p.Lys65Arg

Select item 145635217316.

rs1456352173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:92113818 (GRCh38)
7:91743132 (GRCh37)
Canonical SPDI:: NC_000007.14:92113817:A:G
Gene:: CYP51A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.92113818A>G, NC_000007.13:g.91743132A>G, NG_007968.1:g.25709T>C, NM_000786.4:c.1377T>C, NM_000786.3:c.1377T>C, NM_001146152.2:c.1062T>C, NM_001146152.1:c.1062T>C

Select item 144978800517.

rs1449788005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:92113828 (GRCh38)
7:91743142 (GRCh37)
Canonical SPDI:: NC_000007.14:92113827:A:G
Gene:: CYP51A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.92113828A>G, NC_000007.13:g.91743142A>G, NG_007968.1:g.25699T>C, NM_000786.4:c.1367T>C, NM_000786.3:c.1367T>C, NM_001146152.2:c.1052T>C, NM_001146152.1:c.1052T>C, NP_000777.1:p.Ile456Thr, NP_001139624.1:p.Ile351Thr

Select item 144322750118.

rs1443227501 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:92126351 (GRCh38)
7:91755665 (GRCh37)
Canonical SPDI:: NC_000007.14:92126350:T:C
Gene:: CYP51A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.92126351T>C, NC_000007.13:g.91755665T>C, NG_007968.1:g.13176A>G, NM_000786.4:c.672A>G, NM_000786.3:c.672A>G, NM_001146152.2:c.357A>G, NM_001146152.1:c.357A>G

Select item 144211128019.

rs1442111280 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:92113686 (GRCh38)
7:91743000 (GRCh37)
Canonical SPDI:: NC_000007.14:92113685:A:G
Gene:: CYP51A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000007.14:g.92113686A>G, NC_000007.13:g.91743000A>G, NG_007968.1:g.25841T>C, NM_000786.4:c.1509T>C, NM_000786.3:c.1509T>C, NM_001146152.2:c.1194T>C, NM_001146152.1:c.1194T>C

Select item 144207574820.

rs1442075748 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:92117178 (GRCh38)
7:91746492 (GRCh37)
Canonical SPDI:: NC_000007.14:92117177:T:C
Gene:: CYP51A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.92117178T>C, NC_000007.13:g.91746492T>C, NG_007968.1:g.22349A>G, NM_000786.4:c.1217A>G, NM_000786.3:c.1217A>G, NM_001146152.2:c.902A>G, NM_001146152.1:c.902A>G, NP_000777.1:p.Gln406Arg, NP_001139624.1:p.Gln301Arg

<< First< Prev

Page of 23

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 4503243) (453)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: