SNP Links for Protein (Select 29366833) - SNP

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Links from Protein

Items: 1 to 20 of 213

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Select item 14905766731.

rs1490576673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:95269140 (GRCh38)
8:96281368 (GRCh37)
Canonical SPDI:: NC_000008.11:95269139:C:T
Gene:: CFAP418 (Varview), CFAP418-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.95269140C>T, NC_000008.10:g.96281368C>T, NG_032804.1:g.5095G>A, NM_177965.4:c.50G>A, NM_177965.3:c.50G>A, NM_001363260.1:c.50G>A, NP_808880.1:p.Cys17Tyr, NP_001350189.1:p.Cys17Tyr

Select item 14887166632.

rs1488716663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:95247665 (GRCh38)
8:96259893 (GRCh37)
Canonical SPDI:: NC_000008.11:95247664:A:C
Gene:: CFAP418 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.95247665A>C, NC_000008.10:g.96259893A>C, NG_032804.1:g.26570T>G, NM_177965.4:c.576T>G, NM_177965.3:c.576T>G, NM_001363260.1:c.480T>G

Select item 14831484513.

rs1483148451 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:95247685 (GRCh38)
8:96259913 (GRCh37)
Canonical SPDI:: NC_000008.11:95247684:T:C
Gene:: CFAP418 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000008.11:g.95247685T>C, NC_000008.10:g.96259913T>C, NG_032804.1:g.26550A>G, NM_177965.4:c.556A>G, NM_177965.3:c.556A>G, NM_001363260.1:c.460A>G, NP_808880.1:p.Arg186Gly, NP_001350189.1:p.Arg154Gly

Select item 14792647424.

rs1479264742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:95269184 (GRCh38)
8:96281412 (GRCh37)
Canonical SPDI:: NC_000008.11:95269183:C:T
Gene:: CFAP418 (Varview), CFAP418-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000008.11:g.95269184C>T, NC_000008.10:g.96281412C>T, NG_032804.1:g.5051G>A, NM_177965.4:c.6G>A, NM_177965.3:c.6G>A, NM_001363260.1:c.6G>A

Select item 14785653925.

rs1478565392 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 8:95269127 (GRCh38)
8:96281355 (GRCh37)
Canonical SPDI:: NC_000008.11:95269124:AGAAG:AG
Gene:: CFAP418 (Varview), CFAP418-AS1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.95269127_95269129del, NC_000008.10:g.96281355_96281357del, NG_032804.1:g.5108_5110del, NM_177965.4:c.63_65del, NM_177965.3:c.63_65del, NM_001363260.1:c.63_65del, NP_808880.1:p.Leu22del, NP_001350189.1:p.Leu22del

Select item 14727516956.

rs1472751695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:95247635 (GRCh38)
8:96259863 (GRCh37)
Canonical SPDI:: NC_000008.11:95247634:C:T
Gene:: CFAP418 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Clinical significance:: conflicting-interpretations-of-pathogenicity
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000008.11:g.95247635C>T, NC_000008.10:g.96259863C>T, NG_032804.1:g.26600G>A, NM_177965.4:c.606G>A, NM_177965.3:c.606G>A, NM_001363260.1:c.510G>A, NP_808880.1:p.Trp202Ter, NP_001350189.1:p.Trp170Ter

Select item 14712244287.

rs1471224428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:95260479 (GRCh38)
8:96272707 (GRCh37)
Canonical SPDI:: NC_000008.11:95260478:G:A
Gene:: CFAP418 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.95260479G>A, NC_000008.10:g.96272707G>A, NG_032804.1:g.13756C>T, NM_177965.4:c.297C>T, NM_177965.3:c.297C>T, NM_001363260.1:c.297C>T

Select item 14707946168.

rs1470794616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:95263700 (GRCh38)
8:96275928 (GRCh37)
Canonical SPDI:: NC_000008.11:95263699:T:C
Gene:: CFAP418 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.95263700T>C, NC_000008.10:g.96275928T>C, NG_032804.1:g.10535A>G, NM_177965.4:c.230A>G, NM_177965.3:c.230A>G, NM_001363260.1:c.230A>G, NP_808880.1:p.Asp77Gly, NP_001350189.1:p.Asp77Gly

Select item 14651661529.

rs1465166152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:95247752 (GRCh38)
8:96259980 (GRCh37)
Canonical SPDI:: NC_000008.11:95247751:A:G
Gene:: CFAP418 (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_000008.11:g.95247752A>G, NC_000008.10:g.96259980A>G, NG_032804.1:g.26483T>C, NM_177965.4:c.489T>C, NM_177965.3:c.489T>C, NM_001363260.1:c.393T>C

Select item 146421006010.

rs1464210060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:95269085 (GRCh38)
8:96281313 (GRCh37)
Canonical SPDI:: NC_000008.11:95269084:G:A
Gene:: CFAP418 (Varview), CFAP418-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.95269085G>A, NC_000008.10:g.96281313G>A, NG_032804.1:g.5150C>T, NM_177965.4:c.105C>T, NM_177965.3:c.105C>T, NM_001363260.1:c.105C>T

Select item 146393693811.

rs1463936938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:95269068 (GRCh38)
8:96281296 (GRCh37)
Canonical SPDI:: NC_000008.11:95269067:T:C
Gene:: CFAP418 (Varview), CFAP418-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.95269068T>C, NC_000008.10:g.96281296T>C, NG_032804.1:g.5167A>G, NM_177965.4:c.122A>G, NM_177965.3:c.122A>G, NM_001363260.1:c.122A>G, NP_808880.1:p.Asp41Gly, NP_001350189.1:p.Asp41Gly

Select item 146089463012.

rs1460894630 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTT [Show Flanks]
Chromosome:: 8:95260528 (GRCh38)
8:96272757 (GRCh37)
Canonical SPDI:: NC_000008.11:95260528:ATTT:ATTTATTT
Gene:: CFAP418 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTTATTT=0./0 (ALFA)
ATTT=0.000004/1 (TOPMED)
ATTT=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.95260529_95260532dup, NC_000008.10:g.96272757_96272760dup, NG_032804.1:g.13703_13706dup, NM_177965.4:c.244_247dup, NM_177965.3:c.244_247dup, NM_001363260.1:c.244_247dup, NP_808880.1:p.Leu83Ter, NP_001350189.1:p.Leu83Ter

Select item 145559259013.

rs1455592590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:95269087 (GRCh38)
8:96281315 (GRCh37)
Canonical SPDI:: NC_000008.11:95269086:C:T
Gene:: CFAP418 (Varview), CFAP418-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.95269087C>T, NC_000008.10:g.96281315C>T, NG_032804.1:g.5148G>A, NM_177965.4:c.103G>A, NM_177965.3:c.103G>A, NM_001363260.1:c.103G>A, NP_808880.1:p.Gly35Ser, NP_001350189.1:p.Gly35Ser

Select item 145139540514.

rs1451395405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:95269035 (GRCh38)
8:96281263 (GRCh37)
Canonical SPDI:: NC_000008.11:95269034:C:A
Gene:: CFAP418 (Varview), CFAP418-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.95269035C>A, NC_000008.10:g.96281263C>A, NG_032804.1:g.5200G>T, NM_177965.4:c.155G>T, NM_177965.3:c.155G>T, NM_001363260.1:c.155G>T, NP_808880.1:p.Arg52Ile, NP_001350189.1:p.Arg52Ile

Select item 144306981315.

rs1443069813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:95263690 (GRCh38)
8:96275918 (GRCh37)
Canonical SPDI:: NC_000008.11:95263689:G:A,NC_000008.11:95263689:G:C
Gene:: CFAP418 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.95263690G>A, NC_000008.11:g.95263690G>C, NC_000008.10:g.96275918G>A, NC_000008.10:g.96275918G>C, NG_032804.1:g.10545C>T, NG_032804.1:g.10545C>G, NM_177965.4:c.240C>T, NM_177965.4:c.240C>G, NM_177965.3:c.240C>T, NM_177965.3:c.240C>G, NM_001363260.1:c.240C>T, NM_001363260.1:c.240C>G

Select item 144137969316.

rs1441379693 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:95247705 (GRCh38)
8:96259933 (GRCh37)
Canonical SPDI:: NC_000008.11:95247704:T:C
Gene:: CFAP418 (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)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.95247705T>C, NC_000008.10:g.96259933T>C, NG_032804.1:g.26530A>G, NM_177965.4:c.536A>G, NM_177965.3:c.536A>G, NM_001363260.1:c.440A>G, NP_808880.1:p.Tyr179Cys, NP_001350189.1:p.Tyr147Cys

Select item 143643155417.

rs1436431554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:95269145 (GRCh38)
8:96281373 (GRCh37)
Canonical SPDI:: NC_000008.11:95269144:C:G
Gene:: CFAP418 (Varview), CFAP418-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.95269145C>G, NC_000008.10:g.96281373C>G, NG_032804.1:g.5090G>C, NM_177965.4:c.45G>C, NM_177965.3:c.45G>C, NM_001363260.1:c.45G>C, NP_808880.1:p.Lys15Asn, NP_001350189.1:p.Lys15Asn

Select item 143622428418.

rs1436224284 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:95260487 (GRCh38)
8:96272715 (GRCh37)
Canonical SPDI:: NC_000008.11:95260486:T:C
Gene:: CFAP418 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.95260487T>C, NC_000008.10:g.96272715T>C, NG_032804.1:g.13748A>G, NM_177965.4:c.289A>G, NM_177965.3:c.289A>G, NM_001363260.1:c.289A>G, NP_808880.1:p.Ile97Val, NP_001350189.1:p.Ile97Val

Select item 143283281219.

rs1432832812 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:95247756 (GRCh38)
8:96259984 (GRCh37)
Canonical SPDI:: NC_000008.11:95247755:T:C
Gene:: CFAP418 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.95247756T>C, NC_000008.10:g.96259984T>C, NG_032804.1:g.26479A>G, NM_177965.4:c.485A>G, NM_177965.3:c.485A>G, NM_001363260.1:c.389A>G, NP_808880.1:p.Glu162Gly, NP_001350189.1:p.Glu130Gly

Select item 142432860520.

rs1424328605 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:95259902 (GRCh38)
8:96272130 (GRCh37)
Canonical SPDI:: NC_000008.11:95259901:G:A
Gene:: CFAP418 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.95259902G>A, NC_000008.10:g.96272130G>A, NG_032804.1:g.14333C>T, NM_177965.4:c.312C>T, NM_177965.3:c.312C>T, NM_001363260.1:c.312C>T

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