SNP Links for Protein (Select 15147350) - SNP

Select item 14861003111.

rs1486100311 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:101775884 (GRCh38)
10:103535642 (GRCh37)
Canonical SPDI:: NC_000010.11:101775884:A:AA
Gene:: FGF8 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
HGVS:: NC_000010.11:g.101775885dup, NC_000010.10:g.103535642dup, NG_007151.1:g.5186dup, NM_006119.6:c.16dup, NM_006119.5:c.16dup, NM_006119.4:c.16dup, NM_033163.5:c.16dup, NM_033163.4:c.16dup, NM_033163.3:c.16dup, NM_033165.5:c.16dup, NM_033165.4:c.16dup, NM_033165.3:c.16dup, NM_033164.4:c.16dup, NM_033164.3:c.16dup, NG_052132.1:g.67dup, NP_006110.1:p.Ser6fs, NP_149353.1:p.Ser6fs, NP_149355.1:p.Ser6fs, NP_149354.1:p.Ser6fs

Select item 14856422682.

rs1485642268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:101770593 (GRCh38)
10:103530350 (GRCh37)
Canonical SPDI:: NC_000010.11:101770592:G:C
Gene:: FGF8 (Varview), LOC105378457 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000010.11:g.101770593G>C, NC_000010.10:g.103530350G>C, NG_007151.1:g.10478C>G, NM_006119.6:c.384C>G, NM_006119.5:c.384C>G, NM_006119.4:c.384C>G, NM_033163.5:c.471C>G, NM_033163.4:c.471C>G, NM_033163.3:c.471C>G, NM_033165.5:c.351C>G, NM_033165.4:c.351C>G, NM_033165.3:c.351C>G, NM_033164.4:c.438C>G, NM_033164.3:c.438C>G, NM_001206389.2:c.159C>G, NM_001206389.1:c.159C>G, XR_946253.3:n.174G>C, XR_946253.2:n.264G>C, XR_946253.1:n.174G>C, XR_007062268.1:n.174G>C

Select item 14833227703.

rs1483322770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:101770331 (GRCh38)
10:103530088 (GRCh37)
Canonical SPDI:: NC_000010.11:101770330:A:C
Gene:: FGF8 (Varview), LOC105378457 (Varview)
Functional Consequence:: intron_variant,terminator_codon_variant,stop_lost
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.101770331A>C, NC_000010.10:g.103530088A>C, NG_007151.1:g.10740T>G, NM_006119.6:c.646T>G, NM_006119.5:c.646T>G, NM_006119.4:c.646T>G, NM_033163.5:c.733T>G, NM_033163.4:c.733T>G, NM_033163.3:c.733T>G, NM_033165.5:c.613T>G, NM_033165.4:c.613T>G, NM_033165.3:c.613T>G, NM_033164.4:c.700T>G, NM_033164.3:c.700T>G, NM_001206389.2:c.421T>G, NM_001206389.1:c.421T>G, NP_006110.1:p.Ter216Glu, NP_149353.1:p.Ter245Glu, NP_149355.1:p.Ter205Glu, NP_149354.1:p.Ter234Glu, NP_001193318.1:p.Ter141Glu

Select item 14802243054.

rs1480224305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:101770483 (GRCh38)
10:103530240 (GRCh37)
Canonical SPDI:: NC_000010.11:101770482:G:A,NC_000010.11:101770482:G:T
Gene:: FGF8 (Varview), LOC105378457 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.101770483G>A, NC_000010.11:g.101770483G>T, NC_000010.10:g.103530240G>A, NC_000010.10:g.103530240G>T, NG_007151.1:g.10588C>T, NG_007151.1:g.10588C>A, NM_006119.6:c.494C>T, NM_006119.6:c.494C>A, NM_006119.5:c.494C>T, NM_006119.5:c.494C>A, NM_006119.4:c.494C>T, NM_006119.4:c.494C>A, NM_033163.5:c.581C>T, NM_033163.5:c.581C>A, NM_033163.4:c.581C>T, NM_033163.4:c.581C>A, NM_033163.3:c.581C>T, NM_033163.3:c.581C>A, NM_033165.5:c.461C>T, NM_033165.5:c.461C>A, NM_033165.4:c.461C>T, NM_033165.4:c.461C>A, NM_033165.3:c.461C>T, NM_033165.3:c.461C>A, NM_033164.4:c.548C>T, NM_033164.4:c.548C>A, NM_033164.3:c.548C>T, NM_033164.3:c.548C>A, NM_001206389.2:c.269C>T, NM_001206389.2:c.269C>A, NM_001206389.1:c.269C>T, NM_001206389.1:c.269C>A, NP_006110.1:p.Thr165Met, NP_006110.1:p.Thr165Lys, NP_149353.1:p.Thr194Met, NP_149353.1:p.Thr194Lys, NP_149355.1:p.Thr154Met, NP_149355.1:p.Thr154Lys, NP_149354.1:p.Thr183Met, NP_149354.1:p.Thr183Lys, NP_001193318.1:p.Thr90Met, NP_001193318.1:p.Thr90Lys

Select item 14775870875.

rs1477587087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:101774760 (GRCh38)
10:103534517 (GRCh37)
Canonical SPDI:: NC_000010.11:101774759:G:A
Gene:: FGF8 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
HGVS:: NC_000010.11:g.101774760G>A, NC_000010.10:g.103534517G>A, NG_007151.1:g.6311C>T, NM_006119.6:c.222C>T, NM_006119.5:c.222C>T, NM_006119.4:c.222C>T, NM_033163.5:c.309C>T, NM_033163.4:c.309C>T, NM_033163.3:c.309C>T, NM_033165.5:c.189C>T, NM_033165.4:c.189C>T, NM_033165.3:c.189C>T, NM_033164.4:c.276C>T, NM_033164.3:c.276C>T, NM_001206389.2:c.-4C>T, NM_001206389.1:c.-4C>T

Select item 14769821986.

rs1476982198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:101775888 (GRCh38)
10:103535645 (GRCh37)
Canonical SPDI:: NC_000010.11:101775887:G:A
Gene:: FGF8 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.101775888G>A, NC_000010.10:g.103535645G>A, NG_007151.1:g.5183C>T, NM_006119.6:c.13C>T, NM_006119.5:c.13C>T, NM_006119.4:c.13C>T, NM_033163.5:c.13C>T, NM_033163.4:c.13C>T, NM_033163.3:c.13C>T, NM_033165.5:c.13C>T, NM_033165.4:c.13C>T, NM_033165.3:c.13C>T, NM_033164.4:c.13C>T, NM_033164.3:c.13C>T, NG_052132.1:g.70G>A, NP_006110.1:p.Arg5Cys, NP_149353.1:p.Arg5Cys, NP_149355.1:p.Arg5Cys, NP_149354.1:p.Arg5Cys

Select item 14743318687.

rs1474331868 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTCTTATACACATCTCCGAG [Show Flanks]
Chromosome:: 10:101775894 (GRCh38)
10:103535652 (GRCh37)
Canonical SPDI:: NC_000010.11:101775894:G:GTCTCTTATACACATCTCCGAG
Gene:: FGF8 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,intron_variant
HGVS:: NC_000010.11:g.101775895_101775896insTCTCTTATACACATCTCCGAG, NC_000010.10:g.103535652_103535653insTCTCTTATACACATCTCCGAG, NG_007151.1:g.5176_5177insTCGGAGATGTGTATAAGAGAC, NM_006119.6:c.6_7insTCGGAGATGTGTATAAGAGAC, NM_006119.5:c.6_7insTCGGAGATGTGTATAAGAGAC, NM_006119.4:c.6_7insTCGGAGATGTGTATAAGAGAC, NM_033163.5:c.6_7insTCGGAGATGTGTATAAGAGAC, NM_033163.4:c.6_7insTCGGAGATGTGTATAAGAGAC, NM_033163.3:c.6_7insTCGGAGATGTGTATAAGAGAC, NM_033165.5:c.6_7insTCGGAGATGTGTATAAGAGAC, NM_033165.4:c.6_7insTCGGAGATGTGTATAAGAGAC, NM_033165.3:c.6_7insTCGGAGATGTGTATAAGAGAC, NM_033164.4:c.6_7insTCGGAGATGTGTATAAGAGAC, NM_033164.3:c.6_7insTCGGAGATGTGTATAAGAGAC, NG_052132.1:g.77_78insTCTCTTATACACATCTCCGAG, NP_006110.1:p.Pro4_Arg5insGluMetCysIleArgAspSer, NP_149353.1:p.Pro4_Arg5insGluMetCysIleArgAspSer, NP_149355.1:p.Pro4_Arg5insGluMetCysIleArgAspSer, NP_149354.1:p.Pro4_Arg5insGluMetCysIleArgAspSer

Select item 14740570328.

rs1474057032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:101774854 (GRCh38)
10:103534611 (GRCh37)
Canonical SPDI:: NC_000010.11:101774853:G:A
Gene:: FGF8 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.101774854G>A, NC_000010.10:g.103534611G>A, NG_007151.1:g.6217C>T, NM_006119.6:c.128C>T, NM_006119.5:c.128C>T, NM_006119.4:c.128C>T, NM_033163.5:c.215C>T, NM_033163.4:c.215C>T, NM_033163.3:c.215C>T, NM_033165.5:c.95C>T, NM_033165.4:c.95C>T, NM_033165.3:c.95C>T, NM_033164.4:c.182C>T, NM_033164.3:c.182C>T, NM_001206389.2:c.-98C>T, NM_001206389.1:c.-98C>T, NP_006110.1:p.Thr43Met, NP_149353.1:p.Thr72Met, NP_149355.1:p.Thr32Met, NP_149354.1:p.Thr61Met

Select item 14732269869.

rs1473226986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:101771561 (GRCh38)
10:103531318 (GRCh37)
Canonical SPDI:: NC_000010.11:101771560:T:C
Gene:: FGF8 (Varview), LOC105378457 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000010.11:g.101771561T>C, NC_000010.10:g.103531318T>C, NG_007151.1:g.9510A>G, NM_006119.6:c.259A>G, NM_006119.5:c.259A>G, NM_006119.4:c.259A>G, NM_033163.5:c.346A>G, NM_033163.4:c.346A>G, NM_033163.3:c.346A>G, NM_033165.5:c.226A>G, NM_033165.4:c.226A>G, NM_033165.3:c.226A>G, NM_033164.4:c.313A>G, NM_033164.3:c.313A>G, NM_001206389.2:c.34A>G, NM_001206389.1:c.34A>G, XR_946252.3:n.273T>C, XR_946252.2:n.363T>C, XR_946252.1:n.273T>C, XR_946253.3:n.271T>C, XR_946253.2:n.361T>C, XR_946253.1:n.271T>C, XR_007062268.1:n.342T>C, NP_006110.1:p.Ile87Val, NP_149353.1:p.Ile116Val, NP_149355.1:p.Ile76Val, NP_149354.1:p.Ile105Val, NP_001193318.1:p.Ile12Val

Select item 147076281610.

rs1470762816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:101775743 (GRCh38)
10:103535500 (GRCh37)
Canonical SPDI:: NC_000010.11:101775742:G:C
Gene:: FGF8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.101775743G>C, NC_000010.10:g.103535500G>C, NG_007151.1:g.5328C>G, NM_006119.6:c.66C>G, NM_006119.5:c.66C>G, NM_006119.4:c.66C>G, NM_033163.5:c.66C>G, NM_033163.4:c.66C>G, NM_033163.3:c.66C>G, NM_033165.5:c.66C>G, NM_033165.4:c.66C>G, NM_033165.3:c.66C>G, NM_033164.4:c.66C>G, NM_033164.3:c.66C>G, NM_001206389.2:c.-127C>G, NM_001206389.1:c.-127C>G

Select item 146745953611.

rs1467459536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:101775763 (GRCh38)
10:103535520 (GRCh37)
Canonical SPDI:: NC_000010.11:101775762:G:C,NC_000010.11:101775762:G:T
Gene:: FGF8 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000043/6 (GnomAD_exomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.101775763G>C, NC_000010.11:g.101775763G>T, NC_000010.10:g.103535520G>C, NC_000010.10:g.103535520G>T, NG_007151.1:g.5308C>G, NG_007151.1:g.5308C>A, NM_006119.6:c.46C>G, NM_006119.6:c.46C>A, NM_006119.5:c.46C>G, NM_006119.5:c.46C>A, NM_006119.4:c.46C>G, NM_006119.4:c.46C>A, NM_033163.5:c.46C>G, NM_033163.5:c.46C>A, NM_033163.4:c.46C>G, NM_033163.4:c.46C>A, NM_033163.3:c.46C>G, NM_033163.3:c.46C>A, NM_033165.5:c.46C>G, NM_033165.5:c.46C>A, NM_033165.4:c.46C>G, NM_033165.4:c.46C>A, NM_033165.3:c.46C>G, NM_033165.3:c.46C>A, NM_033164.4:c.46C>G, NM_033164.4:c.46C>A, NM_033164.3:c.46C>G, NM_033164.3:c.46C>A, NM_001206389.2:c.-147C>G, NM_001206389.2:c.-147C>A, NM_001206389.1:c.-147C>G, NM_001206389.1:c.-147C>A, NP_006110.1:p.Leu16Val, NP_006110.1:p.Leu16Met, NP_149353.1:p.Leu16Val, NP_149353.1:p.Leu16Met, NP_149355.1:p.Leu16Val, NP_149355.1:p.Leu16Met, NP_149354.1:p.Leu16Val, NP_149354.1:p.Leu16Met

Select item 146660946412.

rs1466609464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:101770509 (GRCh38)
10:103530266 (GRCh37)
Canonical SPDI:: NC_000010.11:101770508:C:A,NC_000010.11:101770508:C:G,NC_000010.11:101770508:C:T
Gene:: FGF8 (Varview), LOC105378457 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000010.11:g.101770509C>A, NC_000010.11:g.101770509C>G, NC_000010.11:g.101770509C>T, NC_000010.10:g.103530266C>A, NC_000010.10:g.103530266C>G, NC_000010.10:g.103530266C>T, NG_007151.1:g.10562G>T, NG_007151.1:g.10562G>C, NG_007151.1:g.10562G>A, NM_006119.6:c.468G>T, NM_006119.6:c.468G>C, NM_006119.6:c.468G>A, NM_006119.5:c.468G>T, NM_006119.5:c.468G>C, NM_006119.5:c.468G>A, NM_006119.4:c.468G>T, NM_006119.4:c.468G>C, NM_006119.4:c.468G>A, NM_033163.5:c.555G>T, NM_033163.5:c.555G>C, NM_033163.5:c.555G>A, NM_033163.4:c.555G>T, NM_033163.4:c.555G>C, NM_033163.4:c.555G>A, NM_033163.3:c.555G>T, NM_033163.3:c.555G>C, NM_033163.3:c.555G>A, NM_033165.5:c.435G>T, NM_033165.5:c.435G>C, NM_033165.5:c.435G>A, NM_033165.4:c.435G>T, NM_033165.4:c.435G>C, NM_033165.4:c.435G>A, NM_033165.3:c.435G>T, NM_033165.3:c.435G>C, NM_033165.3:c.435G>A, NM_033164.4:c.522G>T, NM_033164.4:c.522G>C, NM_033164.4:c.522G>A, NM_033164.3:c.522G>T, NM_033164.3:c.522G>C, NM_033164.3:c.522G>A, NM_001206389.2:c.243G>T, NM_001206389.2:c.243G>C, NM_001206389.2:c.243G>A, NM_001206389.1:c.243G>T, NM_001206389.1:c.243G>C, NM_001206389.1:c.243G>A, NP_006110.1:p.Lys156Asn, NP_006110.1:p.Lys156Asn, NP_149353.1:p.Lys185Asn, NP_149353.1:p.Lys185Asn, NP_149355.1:p.Lys145Asn, NP_149355.1:p.Lys145Asn, NP_149354.1:p.Lys174Asn, NP_149354.1:p.Lys174Asn, NP_001193318.1:p.Lys81Asn, NP_001193318.1:p.Lys81Asn

Select item 145913016313.

rs1459130163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:101770415 (GRCh38)
10:103530172 (GRCh37)
Canonical SPDI:: NC_000010.11:101770414:T:C
Gene:: FGF8 (Varview), LOC105378457 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000010.11:g.101770415T>C, NC_000010.10:g.103530172T>C, NG_007151.1:g.10656A>G, NM_006119.6:c.562A>G, NM_006119.5:c.562A>G, NM_006119.4:c.562A>G, NM_033163.5:c.649A>G, NM_033163.4:c.649A>G, NM_033163.3:c.649A>G, NM_033165.5:c.529A>G, NM_033165.4:c.529A>G, NM_033165.3:c.529A>G, NM_033164.4:c.616A>G, NM_033164.3:c.616A>G, NM_001206389.2:c.337A>G, NM_001206389.1:c.337A>G, NP_006110.1:p.Ser188Gly, NP_149353.1:p.Ser217Gly, NP_149355.1:p.Ser177Gly, NP_149354.1:p.Ser206Gly, NP_001193318.1:p.Ser113Gly

Select item 144927927914.

rs1449279279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:101774781 (GRCh38)
10:103534538 (GRCh37)
Canonical SPDI:: NC_000010.11:101774780:G:A
Gene:: FGF8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000010.11:g.101774781G>A, NC_000010.10:g.103534538G>A, NG_007151.1:g.6290C>T, NM_006119.6:c.201C>T, NM_006119.5:c.201C>T, NM_006119.4:c.201C>T, NM_033163.5:c.288C>T, NM_033163.4:c.288C>T, NM_033163.3:c.288C>T, NM_033165.5:c.168C>T, NM_033165.4:c.168C>T, NM_033165.3:c.168C>T, NM_033164.4:c.255C>T, NM_033164.3:c.255C>T, NM_001206389.2:c.-25C>T, NM_001206389.1:c.-25C>T

Select item 144735830815.

rs1447358308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:101770529 (GRCh38)
10:103530286 (GRCh37)
Canonical SPDI:: NC_000010.11:101770528:A:T
Gene:: FGF8 (Varview), LOC105378457 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.101770529A>T, NC_000010.10:g.103530286A>T, NG_007151.1:g.10542T>A, NM_006119.6:c.448T>A, NM_006119.5:c.448T>A, NM_006119.4:c.448T>A, NM_033163.5:c.535T>A, NM_033163.4:c.535T>A, NM_033163.3:c.535T>A, NM_033165.5:c.415T>A, NM_033165.4:c.415T>A, NM_033165.3:c.415T>A, NM_033164.4:c.502T>A, NM_033164.3:c.502T>A, NM_001206389.2:c.223T>A, NM_001206389.1:c.223T>A, NP_006110.1:p.Tyr150Asn, NP_149353.1:p.Tyr179Asn, NP_149355.1:p.Tyr139Asn, NP_149354.1:p.Tyr168Asn, NP_001193318.1:p.Tyr75Asn

Select item 144522135716.

rs1445221357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:101774767 (GRCh38)
10:103534524 (GRCh37)
Canonical SPDI:: NC_000010.11:101774766:C:A,NC_000010.11:101774766:C:T
Gene:: FGF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_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_000010.11:g.101774767C>A, NC_000010.11:g.101774767C>T, NC_000010.10:g.103534524C>A, NC_000010.10:g.103534524C>T, NG_007151.1:g.6304G>T, NG_007151.1:g.6304G>A, NM_006119.6:c.215G>T, NM_006119.6:c.215G>A, NM_006119.5:c.215G>T, NM_006119.5:c.215G>A, NM_006119.4:c.215G>T, NM_006119.4:c.215G>A, NM_033163.5:c.302G>T, NM_033163.5:c.302G>A, NM_033163.4:c.302G>T, NM_033163.4:c.302G>A, NM_033163.3:c.302G>T, NM_033163.3:c.302G>A, NM_033165.5:c.182G>T, NM_033165.5:c.182G>A, NM_033165.4:c.182G>T, NM_033165.4:c.182G>A, NM_033165.3:c.182G>T, NM_033165.3:c.182G>A, NM_033164.4:c.269G>T, NM_033164.4:c.269G>A, NM_033164.3:c.269G>T, NM_033164.3:c.269G>A, NM_001206389.2:c.-11G>T, NM_001206389.2:c.-11G>A, NM_001206389.1:c.-11G>T, NM_001206389.1:c.-11G>A, NP_006110.1:p.Arg72Leu, NP_006110.1:p.Arg72His, NP_149353.1:p.Arg101Leu, NP_149353.1:p.Arg101His, NP_149355.1:p.Arg61Leu, NP_149355.1:p.Arg61His, NP_149354.1:p.Arg90Leu, NP_149354.1:p.Arg90His

Select item 144177097317.

rs1441770973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:101775890 (GRCh38)
10:103535647 (GRCh37)
Canonical SPDI:: NC_000010.11:101775889:G:A
Gene:: FGF8 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.101775890G>A, NC_000010.10:g.103535647G>A, NG_007151.1:g.5181C>T, NM_006119.6:c.11C>T, NM_006119.5:c.11C>T, NM_006119.4:c.11C>T, NM_033163.5:c.11C>T, NM_033163.4:c.11C>T, NM_033163.3:c.11C>T, NM_033165.5:c.11C>T, NM_033165.4:c.11C>T, NM_033165.3:c.11C>T, NM_033164.4:c.11C>T, NM_033164.3:c.11C>T, NG_052132.1:g.72G>A, NP_006110.1:p.Pro4Leu, NP_149353.1:p.Pro4Leu, NP_149355.1:p.Pro4Leu, NP_149354.1:p.Pro4Leu

Select item 144014651118.

rs1440146511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:101770375 (GRCh38)
10:103530132 (GRCh37)
Canonical SPDI:: NC_000010.11:101770374:C:A,NC_000010.11:101770374:C:T
Gene:: FGF8 (Varview), LOC105378457 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000010.11:g.101770375C>A, NC_000010.11:g.101770375C>T, NC_000010.10:g.103530132C>A, NC_000010.10:g.103530132C>T, NG_007151.1:g.10696G>T, NG_007151.1:g.10696G>A, NM_006119.6:c.602G>T, NM_006119.6:c.602G>A, NM_006119.5:c.602G>T, NM_006119.5:c.602G>A, NM_006119.4:c.602G>T, NM_006119.4:c.602G>A, NM_033163.5:c.689G>T, NM_033163.5:c.689G>A, NM_033163.4:c.689G>T, NM_033163.4:c.689G>A, NM_033163.3:c.689G>T, NM_033163.3:c.689G>A, NM_033165.5:c.569G>T, NM_033165.5:c.569G>A, NM_033165.4:c.569G>T, NM_033165.4:c.569G>A, NM_033165.3:c.569G>T, NM_033165.3:c.569G>A, NM_033164.4:c.656G>T, NM_033164.4:c.656G>A, NM_033164.3:c.656G>T, NM_033164.3:c.656G>A, NM_001206389.2:c.377G>T, NM_001206389.2:c.377G>A, NM_001206389.1:c.377G>T, NM_001206389.1:c.377G>A, NP_006110.1:p.Arg201Leu, NP_006110.1:p.Arg201His, NP_149353.1:p.Arg230Leu, NP_149353.1:p.Arg230His, NP_149355.1:p.Arg190Leu, NP_149355.1:p.Arg190His, NP_149354.1:p.Arg219Leu, NP_149354.1:p.Arg219His, NP_001193318.1:p.Arg126Leu, NP_001193318.1:p.Arg126His

Select item 143998234819.

rs1439982348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:101771556 (GRCh38)
10:103531313 (GRCh37)
Canonical SPDI:: NC_000010.11:101771555:C:T
Gene:: FGF8 (Varview), LOC105378457 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.101771556C>T, NC_000010.10:g.103531313C>T, NG_007151.1:g.9515G>A, NM_006119.6:c.264G>A, NM_006119.5:c.264G>A, NM_006119.4:c.264G>A, NM_033163.5:c.351G>A, NM_033163.4:c.351G>A, NM_033163.3:c.351G>A, NM_033165.5:c.231G>A, NM_033165.4:c.231G>A, NM_033165.3:c.231G>A, NM_033164.4:c.318G>A, NM_033164.3:c.318G>A, NM_001206389.2:c.39G>A, NM_001206389.1:c.39G>A, XR_946252.3:n.268C>T, XR_946252.2:n.358C>T, XR_946252.1:n.268C>T, XR_946253.3:n.266C>T, XR_946253.2:n.356C>T, XR_946253.1:n.266C>T, XR_007062268.1:n.337C>T

Select item 143974641720.

rs1439746417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:101771516 (GRCh38)
10:103531273 (GRCh37)
Canonical SPDI:: NC_000010.11:101771515:C:T
Gene:: FGF8 (Varview), LOC105378457 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.101771516C>T, NC_000010.10:g.103531273C>T, NG_007151.1:g.9555G>A, NM_006119.6:c.304G>A, NM_006119.5:c.304G>A, NM_006119.4:c.304G>A, NM_033163.5:c.391G>A, NM_033163.4:c.391G>A, NM_033163.3:c.391G>A, NM_033165.5:c.271G>A, NM_033165.4:c.271G>A, NM_033165.3:c.271G>A, NM_033164.4:c.358G>A, NM_033164.3:c.358G>A, NM_001206389.2:c.79G>A, NM_001206389.1:c.79G>A, XR_946252.3:n.228C>T, XR_946252.2:n.318C>T, XR_946252.1:n.228C>T, XR_946253.3:n.226C>T, XR_946253.2:n.316C>T, XR_946253.1:n.226C>T, XR_007062268.1:n.297C>T, NP_006110.1:p.Ala102Thr, NP_149353.1:p.Ala131Thr, NP_149355.1:p.Ala91Thr, NP_149354.1:p.Ala120Thr, NP_001193318.1:p.Ala27Thr

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Result Filters

Clinical Significance

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Custom range

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Items: 1 to 20 of 223

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