SNP Links for Protein (Select 422398866) - SNP

Links from Protein

Items: 1 to 20 of 336

<< First< Prev

Page of 17

Next >Last >>

Select item 14896800101.

rs1489680010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:29321809 (GRCh38)
12:29474742 (GRCh37)
Canonical SPDI:: NC_000012.12:29321808:T:C
Gene:: FAR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29321809T>C, NC_000012.11:g.29474742T>C, NM_018099.5:c.1142T>C, NM_018099.4:c.1142T>C, XM_011520748.4:c.1202T>C, XM_011520748.3:c.1202T>C, XM_011520748.2:c.1202T>C, XM_011520748.1:c.1202T>C, XM_011520747.3:c.1202T>C, XM_011520747.2:c.1202T>C, XM_011520747.1:c.1202T>C, NM_001271783.2:c.1142T>C, NM_001271783.1:c.1142T>C, NM_001271784.2:c.851T>C, NM_001271784.1:c.851T>C, NP_060569.3:p.Met381Thr, XP_011519050.1:p.Met401Thr, XP_011519049.1:p.Met401Thr, NP_001258712.1:p.Met381Thr, NP_001258713.1:p.Met284Thr

Select item 14843799442.

rs1484379944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:29307668 (GRCh38)
12:29460601 (GRCh37)
Canonical SPDI:: NC_000012.12:29307667:G:A
Gene:: FAR2 (Varview), LOC100506606 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.29307668G>A, NC_000012.11:g.29460601G>A, NM_018099.5:c.556G>A, NM_018099.4:c.556G>A, XM_011520748.4:c.616G>A, XM_011520748.3:c.616G>A, XM_011520748.2:c.616G>A, XM_011520748.1:c.616G>A, XM_011520747.3:c.616G>A, XM_011520747.2:c.616G>A, XM_011520747.1:c.616G>A, NM_001271783.2:c.556G>A, NM_001271783.1:c.556G>A, NM_001271784.2:c.265G>A, NM_001271784.1:c.265G>A, NP_060569.3:p.Asp186Asn, XP_011519050.1:p.Asp206Asn, XP_011519049.1:p.Asp206Asn, NP_001258712.1:p.Asp186Asn, NP_001258713.1:p.Asp89Asn

Select item 14836947663.

rs1483694766 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:29311916 (GRCh38)
12:29464849 (GRCh37)
Canonical SPDI:: NC_000012.12:29311915:T:G
Gene:: FAR2 (Varview), LOC100506606 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.29311916T>G, NC_000012.11:g.29464849T>G, NM_018099.5:c.921T>G, NM_018099.4:c.921T>G, XM_011520748.4:c.981T>G, XM_011520748.3:c.981T>G, XM_011520748.2:c.981T>G, XM_011520748.1:c.981T>G, XM_011520747.3:c.981T>G, XM_011520747.2:c.981T>G, XM_011520747.1:c.981T>G, NM_001271783.2:c.921T>G, NM_001271783.1:c.921T>G, NM_001271784.2:c.630T>G, NM_001271784.1:c.630T>G

Select item 14836600854.

rs1483660085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:29297141 (GRCh38)
12:29450074 (GRCh37)
Canonical SPDI:: NC_000012.12:29297140:C:G
Gene:: FAR2 (Varview), LOC100506606 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000012.12:g.29297141C>G, NC_000012.11:g.29450074C>G, NM_018099.5:c.486C>G, NM_018099.4:c.486C>G, XM_011520748.4:c.546C>G, XM_011520748.3:c.546C>G, XM_011520748.2:c.546C>G, XM_011520748.1:c.546C>G, XM_011520747.3:c.546C>G, XM_011520747.2:c.546C>G, XM_011520747.1:c.546C>G, NM_001271783.2:c.486C>G, NM_001271783.1:c.486C>G, NM_001271784.2:c.195C>G, NM_001271784.1:c.195C>G, NP_060569.3:p.His162Gln, XP_011519050.1:p.His182Gln, XP_011519049.1:p.His182Gln, NP_001258712.1:p.His162Gln, NP_001258713.1:p.His65Gln

Select item 14811656725.

rs1481165672 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:29333736 (GRCh38)
12:29486669 (GRCh37)
Canonical SPDI:: NC_000012.12:29333735:T:C
Gene:: FAR2 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29333736T>C, NC_000012.11:g.29486669T>C, NM_018099.5:c.1490T>C, NM_018099.4:c.1490T>C, XM_011520748.4:c.*864T>C, XM_011520748.3:c.*864T>C, XM_011520748.2:c.*864T>C, XM_011520748.1:c.*864T>C, XM_011520747.3:c.1550T>C, XM_011520747.2:c.1550T>C, XM_011520747.1:c.1550T>C, NM_001271783.2:c.1490T>C, NM_001271783.1:c.1490T>C, NM_001271784.2:c.1199T>C, NM_001271784.1:c.1199T>C, NP_060569.3:p.Val497Ala, XP_011519049.1:p.Val517Ala, NP_001258712.1:p.Val497Ala, NP_001258713.1:p.Val400Ala

Select item 14779656486.

rs1477965648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:29297178 (GRCh38)
12:29450111 (GRCh37)
Canonical SPDI:: NC_000012.12:29297177:A:G
Gene:: FAR2 (Varview), LOC100506606 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.29297178A>G, NC_000012.11:g.29450111A>G, NM_018099.5:c.523A>G, NM_018099.4:c.523A>G, XM_011520748.4:c.583A>G, XM_011520748.3:c.583A>G, XM_011520748.2:c.583A>G, XM_011520748.1:c.583A>G, XM_011520747.3:c.583A>G, XM_011520747.2:c.583A>G, XM_011520747.1:c.583A>G, NM_001271783.2:c.523A>G, NM_001271783.1:c.523A>G, NM_001271784.2:c.232A>G, NM_001271784.1:c.232A>G, NP_060569.3:p.Lys175Glu, XP_011519050.1:p.Lys195Glu, XP_011519049.1:p.Lys195Glu, NP_001258712.1:p.Lys175Glu, NP_001258713.1:p.Lys78Glu

Select item 14768532877.

rs1476853287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:29321856 (GRCh38)
12:29474789 (GRCh37)
Canonical SPDI:: NC_000012.12:29321855:C:T
Gene:: FAR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.29321856C>T, NC_000012.11:g.29474789C>T, NM_018099.5:c.1189C>T, NM_018099.4:c.1189C>T, XM_011520748.4:c.1249C>T, XM_011520748.3:c.1249C>T, XM_011520748.2:c.1249C>T, XM_011520748.1:c.1249C>T, XM_011520747.3:c.1249C>T, XM_011520747.2:c.1249C>T, XM_011520747.1:c.1249C>T, NM_001271783.2:c.1189C>T, NM_001271783.1:c.1189C>T, NM_001271784.2:c.898C>T, NM_001271784.1:c.898C>T, NP_060569.3:p.Arg397Trp, XP_011519050.1:p.Arg417Trp, XP_011519049.1:p.Arg417Trp, NP_001258712.1:p.Arg397Trp, NP_001258713.1:p.Arg300Trp

Select item 14755161728.

rs1475516172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:29333637 (GRCh38)
12:29486570 (GRCh37)
Canonical SPDI:: NC_000012.12:29333636:G:A
Gene:: FAR2 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.29333637G>A, NC_000012.11:g.29486570G>A, NM_018099.5:c.1391G>A, NM_018099.4:c.1391G>A, XM_011520748.4:c.*765G>A, XM_011520748.3:c.*765G>A, XM_011520748.2:c.*765G>A, XM_011520748.1:c.*765G>A, XM_011520747.3:c.1451G>A, XM_011520747.2:c.1451G>A, XM_011520747.1:c.1451G>A, NM_001271783.2:c.1391G>A, NM_001271783.1:c.1391G>A, NM_001271784.2:c.1100G>A, NM_001271784.1:c.1100G>A, NP_060569.3:p.Arg464Gln, XP_011519049.1:p.Arg484Gln, NP_001258712.1:p.Arg464Gln, NP_001258713.1:p.Arg367Gln

Select item 14746712659.

rs1474671265 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:29311107 (GRCh38)
12:29464040 (GRCh37)
Canonical SPDI:: NC_000012.12:29311106:A:G
Gene:: FAR2 (Varview), LOC100506606 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.29311107A>G, NC_000012.11:g.29464040A>G, NM_018099.5:c.848A>G, NM_018099.4:c.848A>G, XM_011520748.4:c.908A>G, XM_011520748.3:c.908A>G, XM_011520748.2:c.908A>G, XM_011520748.1:c.908A>G, XM_011520747.3:c.908A>G, XM_011520747.2:c.908A>G, XM_011520747.1:c.908A>G, NM_001271783.2:c.848A>G, NM_001271783.1:c.848A>G, NM_001271784.2:c.557A>G, NM_001271784.1:c.557A>G, NP_060569.3:p.Asn283Ser, XP_011519050.1:p.Asn303Ser, XP_011519049.1:p.Asn303Ser, NP_001258712.1:p.Asn283Ser, NP_001258713.1:p.Asn186Ser

Select item 147305904610.

rs1473059046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:29297173 (GRCh38)
12:29450106 (GRCh37)
Canonical SPDI:: NC_000012.12:29297172:A:G
Gene:: FAR2 (Varview), LOC100506606 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29297173A>G, NC_000012.11:g.29450106A>G, NM_018099.5:c.518A>G, NM_018099.4:c.518A>G, XM_011520748.4:c.578A>G, XM_011520748.3:c.578A>G, XM_011520748.2:c.578A>G, XM_011520748.1:c.578A>G, XM_011520747.3:c.578A>G, XM_011520747.2:c.578A>G, XM_011520747.1:c.578A>G, NM_001271783.2:c.518A>G, NM_001271783.1:c.518A>G, NM_001271784.2:c.227A>G, NM_001271784.1:c.227A>G, NP_060569.3:p.Glu173Gly, XP_011519050.1:p.Glu193Gly, XP_011519049.1:p.Glu193Gly, NP_001258712.1:p.Glu173Gly, NP_001258713.1:p.Glu76Gly

Select item 147065346711.

rs1470653467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:29333654 (GRCh38)
12:29486587 (GRCh37)
Canonical SPDI:: NC_000012.12:29333653:T:G
Gene:: FAR2 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.29333654T>G, NC_000012.11:g.29486587T>G, NM_018099.5:c.1408T>G, NM_018099.4:c.1408T>G, XM_011520748.4:c.*782T>G, XM_011520748.3:c.*782T>G, XM_011520748.2:c.*782T>G, XM_011520748.1:c.*782T>G, XM_011520747.3:c.1468T>G, XM_011520747.2:c.1468T>G, XM_011520747.1:c.1468T>G, NM_001271783.2:c.1408T>G, NM_001271783.1:c.1408T>G, NM_001271784.2:c.1117T>G, NM_001271784.1:c.1117T>G, NP_060569.3:p.Phe470Val, XP_011519049.1:p.Phe490Val, NP_001258712.1:p.Phe470Val, NP_001258713.1:p.Phe373Val

Select item 146911722212.

rs1469117222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:29297145 (GRCh38)
12:29450078 (GRCh37)
Canonical SPDI:: NC_000012.12:29297144:G:A
Gene:: FAR2 (Varview), LOC100506606 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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_000012.12:g.29297145G>A, NC_000012.11:g.29450078G>A, NM_018099.5:c.490G>A, NM_018099.4:c.490G>A, XM_011520748.4:c.550G>A, XM_011520748.3:c.550G>A, XM_011520748.2:c.550G>A, XM_011520748.1:c.550G>A, XM_011520747.3:c.550G>A, XM_011520747.2:c.550G>A, XM_011520747.1:c.550G>A, NM_001271783.2:c.490G>A, NM_001271783.1:c.490G>A, NM_001271784.2:c.199G>A, NM_001271784.1:c.199G>A, NP_060569.3:p.Asp164Asn, XP_011519050.1:p.Asp184Asn, XP_011519049.1:p.Asp184Asn, NP_001258712.1:p.Asp164Asn, NP_001258713.1:p.Asp67Asn

Select item 146774568613.

rs1467745686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:29316976 (GRCh38)
12:29469909 (GRCh37)
Canonical SPDI:: NC_000012.12:29316975:A:G
Gene:: FAR2 (Varview), LOC100506606 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29316976A>G, NC_000012.11:g.29469909A>G, NM_018099.5:c.1091A>G, NM_018099.4:c.1091A>G, XM_011520748.4:c.1151A>G, XM_011520748.3:c.1151A>G, XM_011520748.2:c.1151A>G, XM_011520748.1:c.1151A>G, XM_011520747.3:c.1151A>G, XM_011520747.2:c.1151A>G, XM_011520747.1:c.1151A>G, NM_001271783.2:c.1091A>G, NM_001271783.1:c.1091A>G, NM_001271784.2:c.800A>G, NM_001271784.1:c.800A>G, NP_060569.3:p.Tyr364Cys, XP_011519050.1:p.Tyr384Cys, XP_011519049.1:p.Tyr384Cys, NP_001258712.1:p.Tyr364Cys, NP_001258713.1:p.Tyr267Cys

Select item 146728027014.

rs1467280270 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:29307702 (GRCh38)
12:29460635 (GRCh37)
Canonical SPDI:: NC_000012.12:29307701:T:C
Gene:: FAR2 (Varview), LOC100506606 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29307702T>C, NC_000012.11:g.29460635T>C, NM_018099.5:c.590T>C, NM_018099.4:c.590T>C, XM_011520748.4:c.650T>C, XM_011520748.3:c.650T>C, XM_011520748.2:c.650T>C, XM_011520748.1:c.650T>C, XM_011520747.3:c.650T>C, XM_011520747.2:c.650T>C, XM_011520747.1:c.650T>C, NM_001271783.2:c.590T>C, NM_001271783.1:c.590T>C, NM_001271784.2:c.299T>C, NM_001271784.1:c.299T>C, NP_060569.3:p.Ile197Thr, XP_011519050.1:p.Ile217Thr, XP_011519049.1:p.Ile217Thr, NP_001258712.1:p.Ile197Thr, NP_001258713.1:p.Ile100Thr

Select item 146720400115.

rs1467204001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:29316963 (GRCh38)
12:29469896 (GRCh37)
Canonical SPDI:: NC_000012.12:29316962:C:A
Gene:: FAR2 (Varview), LOC100506606 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29316963C>A, NC_000012.11:g.29469896C>A, NM_018099.5:c.1078C>A, NM_018099.4:c.1078C>A, XM_011520748.4:c.1138C>A, XM_011520748.3:c.1138C>A, XM_011520748.2:c.1138C>A, XM_011520748.1:c.1138C>A, XM_011520747.3:c.1138C>A, XM_011520747.2:c.1138C>A, XM_011520747.1:c.1138C>A, NM_001271783.2:c.1078C>A, NM_001271783.1:c.1078C>A, NM_001271784.2:c.787C>A, NM_001271784.1:c.787C>A, NP_060569.3:p.Pro360Thr, XP_011519050.1:p.Pro380Thr, XP_011519049.1:p.Pro380Thr, NP_001258712.1:p.Pro360Thr, NP_001258713.1:p.Pro263Thr

Select item 146083036716.

rs1460830367 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:29316944 (GRCh38)
12:29469877 (GRCh37)
Canonical SPDI:: NC_000012.12:29316943:T:C,NC_000012.12:29316943:T:G
Gene:: FAR2 (Varview), LOC100506606 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.29316944T>C, NC_000012.12:g.29316944T>G, NC_000012.11:g.29469877T>C, NC_000012.11:g.29469877T>G, NM_018099.5:c.1059T>C, NM_018099.5:c.1059T>G, NM_018099.4:c.1059T>C, NM_018099.4:c.1059T>G, XM_011520748.4:c.1119T>C, XM_011520748.4:c.1119T>G, XM_011520748.3:c.1119T>C, XM_011520748.3:c.1119T>G, XM_011520748.2:c.1119T>C, XM_011520748.2:c.1119T>G, XM_011520748.1:c.1119T>C, XM_011520748.1:c.1119T>G, XM_011520747.3:c.1119T>C, XM_011520747.3:c.1119T>G, XM_011520747.2:c.1119T>C, XM_011520747.2:c.1119T>G, XM_011520747.1:c.1119T>C, XM_011520747.1:c.1119T>G, NM_001271783.2:c.1059T>C, NM_001271783.2:c.1059T>G, NM_001271783.1:c.1059T>C, NM_001271783.1:c.1059T>G, NM_001271784.2:c.768T>C, NM_001271784.2:c.768T>G, NM_001271784.1:c.768T>C, NM_001271784.1:c.768T>G, NP_060569.3:p.Asn353Lys, XP_011519050.1:p.Asn373Lys, XP_011519049.1:p.Asn373Lys, NP_001258712.1:p.Asn353Lys, NP_001258713.1:p.Asn256Lys

Select item 146045241717.

rs1460452417 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTATCTGCG [Show Flanks]
Chromosome:: 12:29316981 (GRCh38)
12:29469915 (GRCh37)
Canonical SPDI:: NC_000012.12:29316981:GCTATCTGCG:GCTATCTGCGCTATCTGCG
Gene:: FAR2 (Varview), LOC100506606 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: GCTATCTGCGCTATCTGCG=0./0 (ALFA)
GCTATCTGC=0.000008/2 (TOPMED)
GCTATCTGC=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.29316983_29316991dup, NC_000012.11:g.29469916_29469924dup, NM_018099.5:c.1098_1106dup, NM_018099.4:c.1098_1106dup, XM_011520748.4:c.1158_1166dup, XM_011520748.3:c.1158_1166dup, XM_011520748.2:c.1158_1166dup, XM_011520748.1:c.1158_1166dup, XM_011520747.3:c.1158_1166dup, XM_011520747.2:c.1158_1166dup, XM_011520747.1:c.1158_1166dup, NM_001271783.2:c.1098_1106dup, NM_001271783.1:c.1098_1106dup, NM_001271784.2:c.807_815dup, NM_001271784.1:c.807_815dup, NP_060569.3:p.Tyr367_Arg369dup, XP_011519050.1:p.Tyr387_Arg389dup, XP_011519049.1:p.Tyr387_Arg389dup, NP_001258712.1:p.Tyr367_Arg369dup, NP_001258713.1:p.Tyr270_Arg272dup

Select item 145901311318.

rs1459013113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:29332608 (GRCh38)
12:29485541 (GRCh37)
Canonical SPDI:: NC_000012.12:29332607:C:T
Gene:: FAR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.29332608C>T, NC_000012.11:g.29485541C>T, NM_018099.5:c.1266C>T, NM_018099.4:c.1266C>T, XM_011520748.4:c.1326C>T, XM_011520748.3:c.1326C>T, XM_011520748.2:c.1326C>T, XM_011520748.1:c.1326C>T, XM_011520747.3:c.1326C>T, XM_011520747.2:c.1326C>T, XM_011520747.1:c.1326C>T, NM_001271783.2:c.1266C>T, NM_001271783.1:c.1266C>T, NM_001271784.2:c.975C>T, NM_001271784.1:c.975C>T

Select item 145623019619.

rs1456230196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:29307802 (GRCh38)
12:29460735 (GRCh37)
Canonical SPDI:: NC_000012.12:29307801:C:T
Gene:: FAR2 (Varview), LOC100506606 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29307802C>T, NC_000012.11:g.29460735C>T, NM_018099.5:c.690C>T, NM_018099.4:c.690C>T, XM_011520748.4:c.750C>T, XM_011520748.3:c.750C>T, XM_011520748.2:c.750C>T, XM_011520748.1:c.750C>T, XM_011520747.3:c.750C>T, XM_011520747.2:c.750C>T, XM_011520747.1:c.750C>T, NM_001271783.2:c.690C>T, NM_001271783.1:c.690C>T, NM_001271784.2:c.399C>T, NM_001271784.1:c.399C>T

Select item 145111619220.

rs1451116192 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:29307750 (GRCh38)
12:29460683 (GRCh37)
Canonical SPDI:: NC_000012.12:29307749:T:C
Gene:: FAR2 (Varview), LOC100506606 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.29307750T>C, NC_000012.11:g.29460683T>C, NM_018099.5:c.638T>C, NM_018099.4:c.638T>C, XM_011520748.4:c.698T>C, XM_011520748.3:c.698T>C, XM_011520748.2:c.698T>C, XM_011520748.1:c.698T>C, XM_011520747.3:c.698T>C, XM_011520747.2:c.698T>C, XM_011520747.1:c.698T>C, NM_001271783.2:c.638T>C, NM_001271783.1:c.638T>C, NM_001271784.2:c.347T>C, NM_001271784.1:c.347T>C, NP_060569.3:p.Met213Thr, XP_011519050.1:p.Met233Thr, XP_011519049.1:p.Met233Thr, NP_001258712.1:p.Met213Thr, NP_001258713.1:p.Met116Thr

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 336

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity