SNP Links for Protein (Select 767988720) - SNP

Links from Protein

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Select item 14906341811.

rs1490634181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:30669142 (GRCh38)
16:30680463 (GRCh37)
Canonical SPDI:: NC_000016.10:30669141:C:G
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30669142C>G, NC_000016.9:g.30680463C>G, NM_001105079.3:c.2440C>G, NM_001105079.2:c.2440C>G, NM_001105079.1:c.880C>G, XM_011545917.3:c.2410C>G, XM_011545917.2:c.2410C>G, XM_011545917.1:c.2410C>G, XM_011545916.3:c.2410C>G, XM_011545916.2:c.2410C>G, XM_011545916.1:c.2410C>G, XM_011545919.3:c.2374C>G, XM_011545919.2:c.2374C>G, XM_011545919.1:c.2374C>G, XM_047434483.1:c.2404C>G, NM_022452.1:c.616C>G, NP_001098549.2:p.Pro814Ala, XP_011544219.1:p.Pro804Ala, XP_011544218.1:p.Pro804Ala, XP_011544221.1:p.Pro792Ala, XP_047290439.1:p.Pro802Ala

Select item 14904817622.

rs1490481762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:30664428 (GRCh38)
16:30675749 (GRCh37)
Canonical SPDI:: NC_000016.10:30664427:G:T
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.0094/16 (Korea1K)
HGVS:: NC_000016.10:g.30664428G>T, NC_000016.9:g.30675749G>T, NM_001105079.3:c.1269G>T, NM_001105079.2:c.1269G>T, XM_011545917.3:c.1239G>T, XM_011545917.2:c.1239G>T, XM_011545917.1:c.1239G>T, XM_011545916.3:c.1269G>T, XM_011545916.2:c.1269G>T, XM_011545916.1:c.1269G>T, XM_011545919.3:c.1203G>T, XM_011545919.2:c.1203G>T, XM_011545919.1:c.1203G>T, XM_047434483.1:c.1233G>T, NP_001098549.2:p.Leu423Phe, XP_011544219.1:p.Leu413Phe, XP_011544218.1:p.Leu423Phe, XP_011544221.1:p.Leu401Phe, XP_047290439.1:p.Leu411Phe

Select item 14897900043.

rs1489790004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30662804 (GRCh38)
16:30674125 (GRCh37)
Canonical SPDI:: NC_000016.10:30662803:C:T
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.30662804C>T, NC_000016.9:g.30674125C>T, NM_001105079.3:c.1000C>T, NM_001105079.2:c.1000C>T, XM_011545917.3:c.970C>T, XM_011545917.2:c.970C>T, XM_011545917.1:c.970C>T, XM_011545916.3:c.1000C>T, XM_011545916.2:c.1000C>T, XM_011545916.1:c.1000C>T, XM_011545919.3:c.934C>T, XM_011545919.2:c.934C>T, XM_011545919.1:c.934C>T, XM_047434483.1:c.964C>T, NP_001098549.2:p.Pro334Ser, XP_011544219.1:p.Pro324Ser, XP_011544218.1:p.Pro334Ser, XP_011544221.1:p.Pro312Ser, XP_047290439.1:p.Pro322Ser

Select item 14897292384.

rs1489729238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:30664909 (GRCh38)
16:30676230 (GRCh37)
Canonical SPDI:: NC_000016.10:30664908:G:A,NC_000016.10:30664908:G:C
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.30664909G>A, NC_000016.10:g.30664909G>C, NC_000016.9:g.30676230G>A, NC_000016.9:g.30676230G>C, NM_001105079.3:c.1552G>A, NM_001105079.3:c.1552G>C, NM_001105079.2:c.1552G>A, NM_001105079.2:c.1552G>C, NM_001105079.1:c.-9G>A, NM_001105079.1:c.-9G>C, XM_011545917.3:c.1522G>A, XM_011545917.3:c.1522G>C, XM_011545917.2:c.1522G>A, XM_011545917.2:c.1522G>C, XM_011545917.1:c.1522G>A, XM_011545917.1:c.1522G>C, XM_011545916.3:c.1552G>A, XM_011545916.3:c.1552G>C, XM_011545916.2:c.1552G>A, XM_011545916.2:c.1552G>C, XM_011545916.1:c.1552G>A, XM_011545916.1:c.1552G>C, XM_011545919.3:c.1486G>A, XM_011545919.3:c.1486G>C, XM_011545919.2:c.1486G>A, XM_011545919.2:c.1486G>C, XM_011545919.1:c.1486G>A, XM_011545919.1:c.1486G>C, XM_047434483.1:c.1516G>A, XM_047434483.1:c.1516G>C, NP_001098549.2:p.Gly518Ser, NP_001098549.2:p.Gly518Arg, XP_011544219.1:p.Gly508Ser, XP_011544219.1:p.Gly508Arg, XP_011544218.1:p.Gly518Ser, XP_011544218.1:p.Gly518Arg, XP_011544221.1:p.Gly496Ser, XP_011544221.1:p.Gly496Arg, XP_047290439.1:p.Gly506Ser, XP_047290439.1:p.Gly506Arg

Select item 14894163995.

rs1489416399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30664445 (GRCh38)
16:30675766 (GRCh37)
Canonical SPDI:: NC_000016.10:30664444:C:T
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.30664445C>T, NC_000016.9:g.30675766C>T, NM_001105079.3:c.1286C>T, NM_001105079.2:c.1286C>T, XM_011545917.3:c.1256C>T, XM_011545917.2:c.1256C>T, XM_011545917.1:c.1256C>T, XM_011545916.3:c.1286C>T, XM_011545916.2:c.1286C>T, XM_011545916.1:c.1286C>T, XM_011545919.3:c.1220C>T, XM_011545919.2:c.1220C>T, XM_011545919.1:c.1220C>T, XM_047434483.1:c.1250C>T, NP_001098549.2:p.Thr429Ile, XP_011544219.1:p.Thr419Ile, XP_011544218.1:p.Thr429Ile, XP_011544221.1:p.Thr407Ile, XP_047290439.1:p.Thr417Ile

Select item 14892095076.

rs1489209507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:30662597 (GRCh38)
16:30673918 (GRCh37)
Canonical SPDI:: NC_000016.10:30662596:G:C
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000032/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.30662597G>C, NC_000016.9:g.30673918G>C, NM_001105079.3:c.793G>C, NM_001105079.2:c.793G>C, XM_011545917.3:c.763G>C, XM_011545917.2:c.763G>C, XM_011545917.1:c.763G>C, XM_011545916.3:c.793G>C, XM_011545916.2:c.793G>C, XM_011545916.1:c.793G>C, XM_011545919.3:c.727G>C, XM_011545919.2:c.727G>C, XM_011545919.1:c.727G>C, XM_047434483.1:c.757G>C, NP_001098549.2:p.Ala265Pro, XP_011544219.1:p.Ala255Pro, XP_011544218.1:p.Ala265Pro, XP_011544221.1:p.Ala243Pro, XP_047290439.1:p.Ala253Pro

Select item 14878789257.

rs1487878925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:30662772 (GRCh38)
16:30674093 (GRCh37)
Canonical SPDI:: NC_000016.10:30662771:C:A
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.30662772C>A, NC_000016.9:g.30674093C>A, NM_001105079.3:c.968C>A, NM_001105079.2:c.968C>A, XM_011545917.3:c.938C>A, XM_011545917.2:c.938C>A, XM_011545917.1:c.938C>A, XM_011545916.3:c.968C>A, XM_011545916.2:c.968C>A, XM_011545916.1:c.968C>A, XM_011545919.3:c.902C>A, XM_011545919.2:c.902C>A, XM_011545919.1:c.902C>A, XM_047434483.1:c.932C>A, NP_001098549.2:p.Pro323Gln, XP_011544219.1:p.Pro313Gln, XP_011544218.1:p.Pro323Gln, XP_011544221.1:p.Pro301Gln, XP_047290439.1:p.Pro311Gln

Select item 14878237558.

rs1487823755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30661197 (GRCh38)
16:30672518 (GRCh37)
Canonical SPDI:: NC_000016.10:30661196:T:C
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30661197T>C, NC_000016.9:g.30672518T>C, NM_001105079.3:c.657T>C, NM_001105079.2:c.657T>C, XM_011545917.3:c.657T>C, XM_011545917.2:c.657T>C, XM_011545917.1:c.657T>C, XM_011545916.3:c.657T>C, XM_011545916.2:c.657T>C, XM_011545916.1:c.657T>C

Select item 14875491409.

rs1487549140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30660347 (GRCh38)
16:30671668 (GRCh37)
Canonical SPDI:: NC_000016.10:30660346:G:A
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30660347G>A, NC_000016.9:g.30671668G>A, NM_001105079.3:c.544G>A, NM_001105079.2:c.544G>A, XM_011545917.3:c.544G>A, XM_011545917.2:c.544G>A, XM_011545917.1:c.544G>A, XM_011545916.3:c.544G>A, XM_011545916.2:c.544G>A, XM_011545916.1:c.544G>A, XM_011545919.3:c.544G>A, XM_011545919.2:c.544G>A, XM_011545919.1:c.544G>A, XM_047434483.1:c.544G>A, NP_001098549.2:p.Ala182Thr, XP_011544219.1:p.Ala182Thr, XP_011544218.1:p.Ala182Thr, XP_011544221.1:p.Ala182Thr, XP_047290439.1:p.Ala182Thr

Select item 148752814510.

rs1487528145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30659571 (GRCh38)
16:30670892 (GRCh37)
Canonical SPDI:: NC_000016.10:30659570:A:G
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.00039/11 (TOMMO)
HGVS:: NC_000016.10:g.30659571A>G, NC_000016.9:g.30670892A>G, NM_001105079.3:c.53A>G, NM_001105079.2:c.53A>G, XM_011545917.3:c.53A>G, XM_011545917.2:c.53A>G, XM_011545917.1:c.53A>G, XM_011545916.3:c.53A>G, XM_011545916.2:c.53A>G, XM_011545916.1:c.53A>G, XM_011545919.3:c.53A>G, XM_011545919.2:c.53A>G, XM_011545919.1:c.53A>G, XM_047434483.1:c.53A>G, NP_001098549.2:p.Glu18Gly, XP_011544219.1:p.Glu18Gly, XP_011544218.1:p.Glu18Gly, XP_011544221.1:p.Glu18Gly, XP_047290439.1:p.Glu18Gly

Select item 148705279311.

rs1487052793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30669297 (GRCh38)
16:30680618 (GRCh37)
Canonical SPDI:: NC_000016.10:30669296:C:T
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.30669297C>T, NC_000016.9:g.30680618C>T, NM_001105079.3:c.2595C>T, NM_001105079.2:c.2595C>T, NM_001105079.1:c.1035C>T, XM_011545917.3:c.2565C>T, XM_011545917.2:c.2565C>T, XM_011545917.1:c.2565C>T, XM_011545916.3:c.2565C>T, XM_011545916.2:c.2565C>T, XM_011545916.1:c.2565C>T, XM_011545919.3:c.2529C>T, XM_011545919.2:c.2529C>T, XM_011545919.1:c.2529C>T, XM_047434483.1:c.2559C>T, NM_022452.1:c.771C>T

Select item 148690221612.

rs1486902216 has merged into rs1258992458 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGGA>-,AGAGGAAGAGGA [Show Flanks]
Chromosome:: 16:30659842 (GRCh38)
16:30671163 (GRCh37)
Canonical SPDI:: NC_000016.10:30659836:GAGGAAGAGGA:GAGGA,NC_000016.10:30659836:GAGGAAGAGGA:GAGGAAGAGGAAGAGGA
Gene:: FBRS (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAAGAGGAAGAGGA=0./0 (ALFA)
-=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30659842_30659847del, NC_000016.10:g.30659842_30659847dup, NC_000016.9:g.30671163_30671168del, NC_000016.9:g.30671163_30671168dup, NM_001105079.3:c.324_329del, NM_001105079.3:c.324_329dup, NM_001105079.2:c.324_329del, NM_001105079.2:c.324_329dup, XM_011545917.3:c.324_329del, XM_011545917.3:c.324_329dup, XM_011545917.2:c.324_329del, XM_011545917.2:c.324_329dup, XM_011545917.1:c.324_329del, XM_011545917.1:c.324_329dup, XM_011545916.3:c.324_329del, XM_011545916.3:c.324_329dup, XM_011545916.2:c.324_329del, XM_011545916.2:c.324_329dup, XM_011545916.1:c.324_329del, XM_011545916.1:c.324_329dup, XM_011545919.3:c.324_329del, XM_011545919.3:c.324_329dup, XM_011545919.2:c.324_329del, XM_011545919.2:c.324_329dup, XM_011545919.1:c.324_329del, XM_011545919.1:c.324_329dup, XM_047434483.1:c.324_329del, XM_047434483.1:c.324_329dup, NP_001098549.2:p.Glu114_Glu115del, NP_001098549.2:p.Glu114_Glu115dup, XP_011544219.1:p.Glu114_Glu115del, XP_011544219.1:p.Glu114_Glu115dup, XP_011544218.1:p.Glu114_Glu115del, XP_011544218.1:p.Glu114_Glu115dup, XP_011544221.1:p.Glu114_Glu115del, XP_011544221.1:p.Glu114_Glu115dup, XP_047290439.1:p.Glu114_Glu115del, XP_047290439.1:p.Glu114_Glu115dup

Select item 148625925513.

rs1486259255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30659761 (GRCh38)
16:30671082 (GRCh37)
Canonical SPDI:: NC_000016.10:30659760:C:T
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.30659761C>T, NC_000016.9:g.30671082C>T, NM_001105079.3:c.243C>T, NM_001105079.2:c.243C>T, XM_011545917.3:c.243C>T, XM_011545917.2:c.243C>T, XM_011545917.1:c.243C>T, XM_011545916.3:c.243C>T, XM_011545916.2:c.243C>T, XM_011545916.1:c.243C>T, XM_011545919.3:c.243C>T, XM_011545919.2:c.243C>T, XM_011545919.1:c.243C>T, XM_047434483.1:c.243C>T

Select item 148551729614.

rs1485517296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30662637 (GRCh38)
16:30673958 (GRCh37)
Canonical SPDI:: NC_000016.10:30662636:G:A
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_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_000016.10:g.30662637G>A, NC_000016.9:g.30673958G>A, NM_001105079.3:c.833G>A, NM_001105079.2:c.833G>A, XM_011545917.3:c.803G>A, XM_011545917.2:c.803G>A, XM_011545917.1:c.803G>A, XM_011545916.3:c.833G>A, XM_011545916.2:c.833G>A, XM_011545916.1:c.833G>A, XM_011545919.3:c.767G>A, XM_011545919.2:c.767G>A, XM_011545919.1:c.767G>A, XM_047434483.1:c.797G>A, NP_001098549.2:p.Arg278Gln, XP_011544219.1:p.Arg268Gln, XP_011544218.1:p.Arg278Gln, XP_011544221.1:p.Arg256Gln, XP_047290439.1:p.Arg266Gln

Select item 148479451515.

rs1484794515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30669077 (GRCh38)
16:30680398 (GRCh37)
Canonical SPDI:: NC_000016.10:30669076:C:T
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,missense_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=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.30669077C>T, NC_000016.9:g.30680398C>T, NM_001105079.3:c.2375C>T, NM_001105079.2:c.2375C>T, NM_001105079.1:c.815C>T, XM_011545917.3:c.2345C>T, XM_011545917.2:c.2345C>T, XM_011545917.1:c.2345C>T, XM_011545916.3:c.2345C>T, XM_011545916.2:c.2345C>T, XM_011545916.1:c.2345C>T, XM_011545919.3:c.2309C>T, XM_011545919.2:c.2309C>T, XM_011545919.1:c.2309C>T, XM_047434483.1:c.2339C>T, NM_022452.1:c.551C>T, NP_001098549.2:p.Pro792Leu, XP_011544219.1:p.Pro782Leu, XP_011544218.1:p.Pro782Leu, XP_011544221.1:p.Pro770Leu, XP_047290439.1:p.Pro780Leu

Select item 148475640316.

rs1484756403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:30662685 (GRCh38)
16:30674006 (GRCh37)
Canonical SPDI:: NC_000016.10:30662684:C:G
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30662685C>G, NC_000016.9:g.30674006C>G, NM_001105079.3:c.881C>G, NM_001105079.2:c.881C>G, XM_011545917.3:c.851C>G, XM_011545917.2:c.851C>G, XM_011545917.1:c.851C>G, XM_011545916.3:c.881C>G, XM_011545916.2:c.881C>G, XM_011545916.1:c.881C>G, XM_011545919.3:c.815C>G, XM_011545919.2:c.815C>G, XM_011545919.1:c.815C>G, XM_047434483.1:c.845C>G, NP_001098549.2:p.Pro294Arg, XP_011544219.1:p.Pro284Arg, XP_011544218.1:p.Pro294Arg, XP_011544221.1:p.Pro272Arg, XP_047290439.1:p.Pro282Arg

Select item 148413195517.

rs1484131955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30667600 (GRCh38)
16:30678921 (GRCh37)
Canonical SPDI:: NC_000016.10:30667599:C:T
Gene:: FBRS (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)
HGVS:: NC_000016.10:g.30667600C>T, NC_000016.9:g.30678921C>T, NM_001105079.3:c.2052C>T, NM_001105079.2:c.2052C>T, NM_001105079.1:c.492C>T, XM_011545917.3:c.2022C>T, XM_011545917.2:c.2022C>T, XM_011545917.1:c.2022C>T, XM_011545916.3:c.2022C>T, XM_011545916.2:c.2022C>T, XM_011545916.1:c.2022C>T, XM_011545919.3:c.1986C>T, XM_011545919.2:c.1986C>T, XM_011545919.1:c.1986C>T, XM_047434483.1:c.2016C>T, NM_022452.1:c.228C>T

Select item 148386719518.

rs1483867195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30667378 (GRCh38)
16:30678699 (GRCh37)
Canonical SPDI:: NC_000016.10:30667377:A:G
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.30667378A>G, NC_000016.9:g.30678699A>G, NM_001105079.3:c.1934A>G, NM_001105079.2:c.1934A>G, NM_001105079.1:c.374A>G, XM_011545917.3:c.1904A>G, XM_011545917.2:c.1904A>G, XM_011545917.1:c.1904A>G, XM_011545916.3:c.1904A>G, XM_011545916.2:c.1904A>G, XM_011545916.1:c.1904A>G, XM_011545919.3:c.1868A>G, XM_011545919.2:c.1868A>G, XM_011545919.1:c.1868A>G, XM_047434483.1:c.1898A>G, NM_022452.1:c.110A>G, NP_001098549.2:p.Tyr645Cys, XP_011544219.1:p.Tyr635Cys, XP_011544218.1:p.Tyr635Cys, XP_011544221.1:p.Tyr623Cys, XP_047290439.1:p.Tyr633Cys

Select item 148278735819.

rs1482787358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:30660268 (GRCh38)
16:30671589 (GRCh37)
Canonical SPDI:: NC_000016.10:30660267:T:G
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
G=0.000036/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30660268T>G, NC_000016.9:g.30671589T>G, NM_001105079.3:c.465T>G, NM_001105079.2:c.465T>G, XM_011545917.3:c.465T>G, XM_011545917.2:c.465T>G, XM_011545917.1:c.465T>G, XM_011545916.3:c.465T>G, XM_011545916.2:c.465T>G, XM_011545916.1:c.465T>G, XM_011545919.3:c.465T>G, XM_011545919.2:c.465T>G, XM_011545919.1:c.465T>G, XM_047434483.1:c.465T>G, NP_001098549.2:p.Asp155Glu, XP_011544219.1:p.Asp155Glu, XP_011544218.1:p.Asp155Glu, XP_011544221.1:p.Asp155Glu, XP_047290439.1:p.Asp155Glu

Select item 148126920520.

rs1481269205 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGCAC>- [Show Flanks]
Chromosome:: 16:30664843 (GRCh38)
16:30676164 (GRCh37)
Canonical SPDI:: NC_000016.10:30664833:CACCAGCACCAGCAC:CACCAGCAC
Gene:: FBRS (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
HGVS:: NC_000016.10:g.30664837CAGCAC[1], NC_000016.9:g.30676158CAGCAC[1], NM_001105079.3:c.1480CAGCAC[1], NM_001105079.2:c.1480CAGCAC[1], NM_001105079.1:c.-81CAGCAC[1], XM_011545917.3:c.1450CAGCAC[1], XM_011545917.2:c.1450CAGCAC[1], XM_011545917.1:c.1450CAGCAC[1], XM_011545916.3:c.1480CAGCAC[1], XM_011545916.2:c.1480CAGCAC[1], XM_011545916.1:c.1480CAGCAC[1], XM_011545919.3:c.1414CAGCAC[1], XM_011545919.2:c.1414CAGCAC[1], XM_011545919.1:c.1414CAGCAC[1], XM_047434483.1:c.1444CAGCAC[1], NP_001098549.2:p.494QH[1], XP_011544219.1:p.484QH[1], XP_011544218.1:p.494QH[1], XP_011544221.1:p.472QH[1], XP_047290439.1:p.482QH[1]

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