SNP Links for Protein (Select 597709784) - SNP

Links from Protein

Items: 1 to 20 of 723

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Select item 14906400611.

rs1490640061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:2462475 (GRCh38)
4:2464202 (GRCh37)
Canonical SPDI:: NC_000004.12:2462474:C:G,NC_000004.12:2462474:C:T
Gene:: CFAP99 (Varview), LOC105374353 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.2462475C>G, NC_000004.12:g.2462475C>T, NC_000004.11:g.2464202C>G, NC_000004.11:g.2464202C>T, NM_001193282.4:c.1694C>G, NM_001193282.4:c.1694C>T, NM_001193282.3:c.1694C>G, NM_001193282.3:c.1694C>T, NM_001193282.2:c.1694C>G, NM_001193282.2:c.1694C>T, NM_001193282.1:c.1694C>G, NM_001193282.1:c.1694C>T, XM_047415685.1:c.1694C>G, XM_047415685.1:c.1694C>T, NP_001180211.2:p.Pro565Arg, NP_001180211.2:p.Pro565Leu, XP_047271641.1:p.Pro565Arg, XP_047271641.1:p.Pro565Leu

Select item 14871201652.

rs1487120165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:2459157 (GRCh38)
4:2460884 (GRCh37)
Canonical SPDI:: NC_000004.12:2459156:G:A
Gene:: CFAP99 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.2459157G>A, NC_000004.11:g.2460884G>A, NM_001193282.4:c.1354G>A, NM_001193282.3:c.1354G>A, NM_001193282.2:c.1354G>A, NM_001193282.1:c.1354G>A, XM_047415685.1:c.1354G>A, NP_001180211.2:p.Ala452Thr, XP_047271641.1:p.Ala452Thr

Select item 14870629693.

rs1487062969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2438093 (GRCh38)
4:2439820 (GRCh37)
Canonical SPDI:: NC_000004.12:2438092:C:T
Gene:: CFAP99 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000014/2 (GnomAD)
T=0.000015/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.2438093C>T, NC_000004.11:g.2439820C>T, NM_001193282.4:c.280C>T, NM_001193282.3:c.280C>T, NM_001193282.2:c.280C>T, NM_001193282.1:c.280C>T, XM_047415685.1:c.280C>T

Select item 14859671934.

rs1485967193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:2451283 (GRCh38)
4:2453010 (GRCh37)
Canonical SPDI:: NC_000004.12:2451282:A:G
Gene:: CFAP99 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2451283A>G, NC_000004.11:g.2453010A>G, NM_001193282.4:c.887A>G, NM_001193282.3:c.887A>G, NM_001193282.2:c.887A>G, NM_001193282.1:c.887A>G, XM_047415685.1:c.887A>G, NP_001180211.2:p.Lys296Arg, XP_047271641.1:p.Lys296Arg

Select item 14839413535.

rs1483941353 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCGCCG [Show Flanks]
Chromosome:: 4:2459174 (GRCh38)
4:2460902 (GRCh37)
Canonical SPDI:: NC_000004.12:2459174:CGGCGCCG:CGGCGCCGGCGCCG
Gene:: CFAP99 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa
MAF:: CGGCGCCGGCGCCG=0./0 (ALFA)
CGGCGC=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.2459177_2459182dup, NC_000004.11:g.2460904_2460909dup, NM_001193282.4:c.1374_1379dup, NM_001193282.3:c.1374_1379dup, NM_001193282.2:c.1374_1379dup, NM_001193282.1:c.1374_1379dup, XM_047415685.1:c.1374_1379dup, NP_001180211.2:p.Arg459_Arg460dup, XP_047271641.1:p.Arg459_Arg460dup

Select item 14834538656.

rs1483453865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:2460224 (GRCh38)
4:2461951 (GRCh37)
Canonical SPDI:: NC_000004.12:2460223:G:A,NC_000004.12:2460223:G:C
Gene:: CFAP99 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.2460224G>A, NC_000004.12:g.2460224G>C, NC_000004.11:g.2461951G>A, NC_000004.11:g.2461951G>C, NM_001193282.4:c.1643G>A, NM_001193282.4:c.1643G>C, NM_001193282.3:c.1643G>A, NM_001193282.3:c.1643G>C, NM_001193282.2:c.1643G>A, NM_001193282.2:c.1643G>C, NM_001193282.1:c.1643G>A, NM_001193282.1:c.1643G>C, XM_047415685.1:c.1643G>A, XM_047415685.1:c.1643G>C, NP_001180211.2:p.Gly548Glu, NP_001180211.2:p.Gly548Ala, XP_047271641.1:p.Gly548Glu, XP_047271641.1:p.Gly548Ala

Select item 14829482627.

rs1482948262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:2462543 (GRCh38)
4:2464270 (GRCh37)
Canonical SPDI:: NC_000004.12:2462542:C:A
Gene:: CFAP99 (Varview), LOC105374353 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000014/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2462543C>A, NC_000004.11:g.2464270C>A, NM_001193282.4:c.1762C>A, NM_001193282.3:c.1762C>A, NM_001193282.2:c.1762C>A, NM_001193282.1:c.1762C>A, XM_047415685.1:c.1762C>A, NP_001180211.2:p.Arg588Ser, XP_047271641.1:p.Arg588Ser

Select item 14797266818.

rs1479726681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:2458784 (GRCh38)
4:2460511 (GRCh37)
Canonical SPDI:: NC_000004.12:2458783:A:G
Gene:: CFAP99 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2458784A>G, NC_000004.11:g.2460511A>G, NM_001193282.4:c.1223A>G, NM_001193282.3:c.1223A>G, NM_001193282.2:c.1223A>G, NM_001193282.1:c.1223A>G, XM_047415685.1:c.1223A>G, NP_001180211.2:p.Glu408Gly, XP_047271641.1:p.Glu408Gly

Select item 14796175799.

rs1479617579 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:2450991 (GRCh38)
4:2452718 (GRCh37)
Canonical SPDI:: NC_000004.12:2450990:A:G
Gene:: CFAP99 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000004.12:g.2450991A>G, NC_000004.11:g.2452718A>G, NM_001193282.4:c.840A>G, NM_001193282.3:c.840A>G, NM_001193282.2:c.840A>G, NM_001193282.1:c.840A>G, XM_047415685.1:c.840A>G

Select item 147917899810.

rs1479178998 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:2438156 (GRCh38)
4:2439883 (GRCh37)
Canonical SPDI:: NC_000004.12:2438155:A:C
Gene:: CFAP99 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.2438156A>C, NC_000004.11:g.2439883A>C, NM_001193282.4:c.343A>C, NM_001193282.3:c.343A>C, NM_001193282.2:c.343A>C, NM_001193282.1:c.343A>C, XM_047415685.1:c.343A>C, NP_001180211.2:p.Met115Leu, XP_047271641.1:p.Met115Leu

Select item 147840938511.

rs1478409385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:2445155 (GRCh38)
4:2446882 (GRCh37)
Canonical SPDI:: NC_000004.12:2445154:G:C,NC_000004.12:2445154:G:T
Gene:: CFAP99 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.2445155G>C, NC_000004.12:g.2445155G>T, NC_000004.11:g.2446882G>C, NC_000004.11:g.2446882G>T, NM_001193282.4:c.489G>C, NM_001193282.4:c.489G>T, NM_001193282.3:c.489G>C, NM_001193282.3:c.489G>T, NM_001193282.2:c.489G>C, NM_001193282.2:c.489G>T, NM_001193282.1:c.489G>C, NM_001193282.1:c.489G>T, XM_047415685.1:c.489G>C, XM_047415685.1:c.489G>T

Select item 147782496812.

rs1477824968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2462526 (GRCh38)
4:2464253 (GRCh37)
Canonical SPDI:: NC_000004.12:2462525:C:T
Gene:: CFAP99 (Varview), LOC105374353 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.2462526C>T, NC_000004.11:g.2464253C>T, NM_001193282.4:c.1745C>T, NM_001193282.3:c.1745C>T, NM_001193282.2:c.1745C>T, NM_001193282.1:c.1745C>T, XM_047415685.1:c.1745C>T, NP_001180211.2:p.Ser582Leu, XP_047271641.1:p.Ser582Leu

Select item 147746320013.

rs1477463200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2426520 (GRCh38)
4:2428247 (GRCh37)
Canonical SPDI:: NC_000004.12:2426519:C:T
Gene:: CFAP99 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2426520C>T, NC_000004.11:g.2428247C>T, NM_001193282.4:c.45C>T, NM_001193282.3:c.45C>T, NM_001193282.2:c.45C>T, NM_001193282.1:c.45C>T, XM_047415685.1:c.45C>T

Select item 147693996514.

rs1476939965 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:2445207 (GRCh38)
4:2446934 (GRCh37)
Canonical SPDI:: NC_000004.12:2445206:A:C
Gene:: CFAP99 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.00003/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2445207A>C, NC_000004.11:g.2446934A>C, NM_001193282.4:c.541A>C, NM_001193282.3:c.541A>C, NM_001193282.2:c.541A>C, NM_001193282.1:c.541A>C, XM_047415685.1:c.541A>C, NP_001180211.2:p.Lys181Gln, XP_047271641.1:p.Lys181Gln

Select item 147458599915.

rs1474585999 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 4:2449713 (GRCh38)
4:2451440 (GRCh37)
Canonical SPDI:: NC_000004.12:2449712:T:
Gene:: CFAP99 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2449713del, NC_000004.11:g.2451440del, NM_001193282.4:c.686del, NM_001193282.3:c.686del, NM_001193282.2:c.686del, NM_001193282.1:c.686del, XM_047415685.1:c.686del, NP_001180211.2:p.Leu229fs, XP_047271641.1:p.Leu229fs

Select item 147447456116.

rs1474474561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:2452224 (GRCh38)
4:2453951 (GRCh37)
Canonical SPDI:: NC_000004.12:2452223:G:C
Gene:: CFAP99 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2452224G>C, NC_000004.11:g.2453951G>C, NM_001193282.4:c.1039G>C, NM_001193282.3:c.1039G>C, NM_001193282.2:c.1039G>C, NM_001193282.1:c.1039G>C, XM_047415685.1:c.1039G>C, NP_001180211.2:p.Glu347Gln, XP_047271641.1:p.Glu347Gln

Select item 147349522917.

rs1473495229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:2458806 (GRCh38)
4:2460533 (GRCh37)
Canonical SPDI:: NC_000004.12:2458805:G:A
Gene:: CFAP99 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000052/7 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2458806G>A, NC_000004.11:g.2460533G>A, NM_001193282.4:c.1245G>A, NM_001193282.3:c.1245G>A, NM_001193282.2:c.1245G>A, NM_001193282.1:c.1245G>A, XM_047415685.1:c.1245G>A

Select item 147343203418.

rs1473432034 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:2460074 (GRCh38)
4:2461801 (GRCh37)
Canonical SPDI:: NC_000004.12:2460073:T:A,NC_000004.12:2460073:T:C
Gene:: CFAP99 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2460074T>A, NC_000004.12:g.2460074T>C, NC_000004.11:g.2461801T>A, NC_000004.11:g.2461801T>C, NM_001193282.4:c.1493T>A, NM_001193282.4:c.1493T>C, NM_001193282.3:c.1493T>A, NM_001193282.3:c.1493T>C, NM_001193282.2:c.1493T>A, NM_001193282.2:c.1493T>C, NM_001193282.1:c.1493T>A, NM_001193282.1:c.1493T>C, XM_047415685.1:c.1493T>A, XM_047415685.1:c.1493T>C, NP_001180211.2:p.Val498Glu, NP_001180211.2:p.Val498Ala, XP_047271641.1:p.Val498Glu, XP_047271641.1:p.Val498Ala

Select item 147251402119.

rs1472514021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:2459168 (GRCh38)
4:2460895 (GRCh37)
Canonical SPDI:: NC_000004.12:2459167:G:A
Gene:: CFAP99 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2459168G>A, NC_000004.11:g.2460895G>A, NM_001193282.4:c.1365G>A, NM_001193282.3:c.1365G>A, NM_001193282.2:c.1365G>A, NM_001193282.1:c.1365G>A, XM_047415685.1:c.1365G>A

Select item 147245274920.

rs1472452749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:2462481 (GRCh38)
4:2464208 (GRCh37)
Canonical SPDI:: NC_000004.12:2462480:C:G,NC_000004.12:2462480:C:T
Gene:: CFAP99 (Varview), LOC105374353 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.008245/138 (TOMMO)
HGVS:: NC_000004.12:g.2462481C>G, NC_000004.12:g.2462481C>T, NC_000004.11:g.2464208C>G, NC_000004.11:g.2464208C>T, NM_001193282.4:c.1700C>G, NM_001193282.4:c.1700C>T, NM_001193282.3:c.1700C>G, NM_001193282.3:c.1700C>T, NM_001193282.2:c.1700C>G, NM_001193282.2:c.1700C>T, NM_001193282.1:c.1700C>G, NM_001193282.1:c.1700C>T, XM_047415685.1:c.1700C>G, XM_047415685.1:c.1700C>T, NP_001180211.2:p.Ala567Gly, NP_001180211.2:p.Ala567Val, XP_047271641.1:p.Ala567Gly, XP_047271641.1:p.Ala567Val

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