SNP Links for Protein (Select 197276661) - SNP

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 20:21714760 (GRCh38)
20:21695398 (GRCh37)
Canonical SPDI:: NC_000020.11:21714759:TTT:TT
Gene:: PAX1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.21714762del, NC_000020.10:g.21695400del, NG_047065.1:g.14104del, NM_006192.5:c.1564del, NM_006192.4:c.1564del, NM_001257096.2:c.*200del, NM_001257096.1:c.*200del, NP_006183.2:p.Tyr522fs

Select item 148007936810.

rs1480079368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:21708625 (GRCh38)
20:21689263 (GRCh37)
Canonical SPDI:: NC_000020.11:21708624:C:T
Gene:: PAX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.21708625C>T, NC_000020.10:g.21689263C>T, NG_047065.1:g.7967C>T, NM_006192.5:c.984C>T, NM_006192.4:c.984C>T, NM_001257096.2:c.984C>T, NM_001257096.1:c.984C>T

Select item 147855141611.

rs1478551416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:21714653 (GRCh38)
20:21695291 (GRCh37)
Canonical SPDI:: NC_000020.11:21714652:C:A,NC_000020.11:21714652:C:T
Gene:: PAX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_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_000020.11:g.21714653C>A, NC_000020.11:g.21714653C>T, NC_000020.10:g.21695291C>A, NC_000020.10:g.21695291C>T, NG_047065.1:g.13995C>A, NG_047065.1:g.13995C>T, NM_006192.5:c.1455C>A, NM_006192.5:c.1455C>T, NM_006192.4:c.1455C>A, NM_006192.4:c.1455C>T, NM_001257096.2:c.*91C>A, NM_001257096.2:c.*91C>T, NM_001257096.1:c.*91C>A, NM_001257096.1:c.*91C>T

Select item 147783269612.

rs1477832696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:21714608 (GRCh38)
20:21695246 (GRCh37)
Canonical SPDI:: NC_000020.11:21714607:C:G,NC_000020.11:21714607:C:T
Gene:: PAX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.21714608C>G, NC_000020.11:g.21714608C>T, NC_000020.10:g.21695246C>G, NC_000020.10:g.21695246C>T, NG_047065.1:g.13950C>G, NG_047065.1:g.13950C>T, NM_006192.5:c.1410C>G, NM_006192.5:c.1410C>T, NM_006192.4:c.1410C>G, NM_006192.4:c.1410C>T, NM_001257096.2:c.*46C>G, NM_001257096.2:c.*46C>T, NM_001257096.1:c.*46C>G, NM_001257096.1:c.*46C>T, NP_006183.2:p.Asp470Glu

Select item 147768726113.

rs1477687261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:21706464 (GRCh38)
20:21687102 (GRCh37)
Canonical SPDI:: NC_000020.11:21706463:C:T
Gene:: PAX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.21706464C>T, NC_000020.10:g.21687102C>T, NG_047065.1:g.5806C>T, NM_006192.5:c.313C>T, NM_006192.4:c.313C>T, NM_001257096.2:c.313C>T, NM_001257096.1:c.313C>T

Select item 147758562514.

rs1477585625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 20:21705864 (GRCh38)
20:21686502 (GRCh37)
Canonical SPDI:: NC_000020.11:21705863:G:A,NC_000020.11:21705863:G:C,NC_000020.11:21705863:G:T
Gene:: PAX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
A=0.000106/2 (TOMMO)
HGVS:: NC_000020.11:g.21705864G>A, NC_000020.11:g.21705864G>C, NC_000020.11:g.21705864G>T, NC_000020.10:g.21686502G>A, NC_000020.10:g.21686502G>C, NC_000020.10:g.21686502G>T, NG_047065.1:g.5206G>A, NG_047065.1:g.5206G>C, NG_047065.1:g.5206G>T, NM_006192.5:c.152G>A, NM_006192.5:c.152G>C, NM_006192.5:c.152G>T, NM_006192.4:c.152G>A, NM_006192.4:c.152G>C, NM_006192.4:c.152G>T, NM_001257096.2:c.152G>A, NM_001257096.2:c.152G>C, NM_001257096.2:c.152G>T, NM_001257096.1:c.152G>A, NM_001257096.1:c.152G>C, NM_001257096.1:c.152G>T, NP_006183.2:p.Arg51Gln, NP_006183.2:p.Arg51Pro, NP_006183.2:p.Arg51Leu, NP_001244025.1:p.Arg51Gln, NP_001244025.1:p.Arg51Pro, NP_001244025.1:p.Arg51Leu

Select item 147449192615.

rs1474491926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:21709350 (GRCh38)
20:21689988 (GRCh37)
Canonical SPDI:: NC_000020.11:21709349:G:T
Gene:: PAX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000548/1 (Korea1K)
HGVS:: NC_000020.11:g.21709350G>T, NC_000020.10:g.21689988G>T, NG_047065.1:g.8692G>T, NM_006192.5:c.1188G>T, NM_006192.4:c.1188G>T, NM_001257096.2:c.1188G>T, NM_001257096.1:c.1188G>T

Select item 147441983616.

rs1474419836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:21707050 (GRCh38)
20:21687688 (GRCh37)
Canonical SPDI:: NC_000020.11:21707049:C:A
Gene:: PAX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.21707050C>A, NC_000020.10:g.21687688C>A, NG_047065.1:g.6392C>A, NM_006192.5:c.899C>A, NM_006192.4:c.899C>A, NM_001257096.2:c.899C>A, NM_001257096.1:c.899C>A, NP_006183.2:p.Thr300Lys, NP_001244025.1:p.Thr300Lys

Select item 147435947117.

rs1474359471 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 20:21706862 (GRCh38)
20:21687500 (GRCh37)
Canonical SPDI:: NC_000020.11:21706861:T:C,NC_000020.11:21706861:T:G
Gene:: PAX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.21706862T>C, NC_000020.11:g.21706862T>G, NC_000020.10:g.21687500T>C, NC_000020.10:g.21687500T>G, NG_047065.1:g.6204T>C, NG_047065.1:g.6204T>G, NM_006192.5:c.711T>C, NM_006192.5:c.711T>G, NM_006192.4:c.711T>C, NM_006192.4:c.711T>G, NM_001257096.2:c.711T>C, NM_001257096.2:c.711T>G, NM_001257096.1:c.711T>C, NM_001257096.1:c.711T>G, NP_006183.2:p.Ser237Arg, NP_001244025.1:p.Ser237Arg

Select item 147339425418.

rs1473394254 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:21705902 (GRCh38)
20:21686540 (GRCh37)
Canonical SPDI:: NC_000020.11:21705901:G:C
Gene:: PAX1 (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)
HGVS:: NC_000020.11:g.21705902G>C, NC_000020.10:g.21686540G>C, NG_047065.1:g.5244G>C, NM_006192.5:c.190G>C, NM_006192.4:c.190G>C, NM_001257096.2:c.190G>C, NM_001257096.1:c.190G>C, NP_006183.2:p.Gly64Arg, NP_001244025.1:p.Gly64Arg

Select item 147278323219.

rs1472783232 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:21708632 (GRCh38)
20:21689270 (GRCh37)
Canonical SPDI:: NC_000020.11:21708631:T:C
Gene:: PAX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.21708632T>C, NC_000020.10:g.21689270T>C, NG_047065.1:g.7974T>C, NM_006192.5:c.991T>C, NM_006192.4:c.991T>C, NM_001257096.2:c.991T>C, NM_001257096.1:c.991T>C, NP_006183.2:p.Phe331Leu, NP_001244025.1:p.Phe331Leu

Select item 147027384320.

rs1470273843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 20:21708621 (GRCh38)
20:21689259 (GRCh37)
Canonical SPDI:: NC_000020.11:21708620:A:C,NC_000020.11:21708620:A:G
Gene:: PAX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.001638/3 (Korea1K)
HGVS:: NC_000020.11:g.21708621A>C, NC_000020.11:g.21708621A>G, NC_000020.10:g.21689259A>C, NC_000020.10:g.21689259A>G, NG_047065.1:g.7963A>C, NG_047065.1:g.7963A>G, NM_006192.5:c.980A>C, NM_006192.5:c.980A>G, NM_006192.4:c.980A>C, NM_006192.4:c.980A>G, NM_001257096.2:c.980A>C, NM_001257096.2:c.980A>G, NM_001257096.1:c.980A>C, NM_001257096.1:c.980A>G, NP_006183.2:p.Asn327Thr, NP_006183.2:p.Asn327Ser, NP_001244025.1:p.Asn327Thr, NP_001244025.1:p.Asn327Ser

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