SNP Links for Protein (Select 268834192) - SNP

Select item 14897595881.

rs1489759588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:65979520 (GRCh38)
7:65444507 (GRCh37)
Canonical SPDI:: NC_000007.14:65979519:G:T
Gene:: GUSB (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.65979520G>T, NC_000007.13:g.65444507G>T, NG_016197.1:g.7795C>A, NM_000181.4:c.603C>A, NM_000181.3:c.603C>A, NR_120531.2:n.633C>A, NR_120531.1:n.734C>A, NM_001293104.2:c.33C>A, NM_001293104.1:c.33C>A, XM_005250297.5:c.603C>A, XM_005250297.4:c.603C>A, XM_005250297.3:c.603C>A, XM_005250297.2:c.603C>A, XM_005250297.1:c.603C>A, XM_017012091.2:c.89C>A, XM_017012091.1:c.89C>A, XM_047420286.1:c.89C>A, XM_047420288.1:c.33C>A, XM_047420287.1:c.603C>A, XM_047420290.1:c.603C>A, XP_016867580.1:p.Ser30Tyr, XP_047276242.1:p.Ser30Tyr

Select item 14891662722.

rs1489166272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:65979900 (GRCh38)
7:65444887 (GRCh37)
Canonical SPDI:: NC_000007.14:65979899:C:T
Gene:: GUSB (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000013/3 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000007.14:g.65979900C>T, NC_000007.13:g.65444887C>T, NG_016197.1:g.7415G>A, NM_000181.4:c.408G>A, NM_000181.3:c.408G>A, NR_120531.2:n.438G>A, NR_120531.1:n.539G>A, NM_001284290.2:c.408G>A, NM_001284290.1:c.408G>A, XM_005250297.5:c.408G>A, XM_005250297.4:c.408G>A, XM_005250297.3:c.408G>A, XM_005250297.2:c.408G>A, XM_005250297.1:c.408G>A, XM_047420287.1:c.408G>A, XM_047420290.1:c.408G>A

Select item 14891336873.

rs1489133687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:65982143 (GRCh38)
7:65447130 (GRCh37)
Canonical SPDI:: NC_000007.14:65982142:G:A
Gene:: GUSB (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.00006/1 (TOMMO)
HGVS:: NC_000007.14:g.65982143G>A, NC_000007.13:g.65447130G>A, NG_016197.1:g.5172C>T, NM_000181.4:c.41C>T, NM_000181.3:c.41C>T, NR_120531.2:n.71C>T, NR_120531.1:n.172C>T, NM_001293104.2:c.-345C>T, NM_001293104.1:c.-345C>T, NM_001293105.2:c.-289C>T, NM_001293105.1:c.-289C>T, NM_001284290.2:c.41C>T, NM_001284290.1:c.41C>T, XM_005250297.5:c.41C>T, XM_005250297.4:c.41C>T, XM_005250297.3:c.41C>T, XM_005250297.2:c.41C>T, XM_005250297.1:c.41C>T, XM_047420287.1:c.41C>T, XM_047420290.1:c.41C>T, NP_000172.2:p.Pro14Leu, NP_001271219.1:p.Pro14Leu, XP_005250354.1:p.Pro14Leu, XP_047276243.1:p.Pro14Leu, XP_047276246.1:p.Pro14Leu

Select item 14868171084.

rs1486817108 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:65967871 (GRCh38)
7:65432858 (GRCh37)
Canonical SPDI:: NC_000007.14:65967870:A:C
Gene:: GUSB (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.65967871A>C, NC_000007.13:g.65432858A>C, NG_016197.1:g.19444T>G, NM_000181.4:c.1513T>G, NM_000181.3:c.1513T>G, NR_120531.2:n.1458T>G, NR_120531.1:n.1559T>G, NM_001293104.2:c.943T>G, NM_001293104.1:c.943T>G, NM_001293105.2:c.856T>G, NM_001293105.1:c.856T>G, NM_001284290.2:c.1075T>G, NM_001284290.1:c.1075T>G, XM_005250297.5:c.1360T>G, XM_005250297.4:c.1360T>G, XM_005250297.3:c.1360T>G, XM_005250297.2:c.1360T>G, XM_005250297.1:c.1360T>G, XM_017012091.2:c.859T>G, XM_017012091.1:c.859T>G, XM_047420286.1:c.1012T>G, XM_047420288.1:c.790T>G, XM_047420289.1:c.703T>G, NP_000172.2:p.Tyr505Asp, NP_001280033.1:p.Tyr315Asp, NP_001280034.1:p.Tyr286Asp, NP_001271219.1:p.Tyr359Asp, XP_005250354.1:p.Tyr454Asp, XP_016867580.1:p.Tyr287Asp, XP_047276242.1:p.Tyr338Asp, XP_047276244.1:p.Tyr264Asp, XP_047276245.1:p.Tyr235Asp

Select item 14834297625.

rs1483429762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:65964326 (GRCh38)
7:65429313 (GRCh37)
Canonical SPDI:: NC_000007.14:65964325:G:A
Gene:: GUSB (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.65964326G>A, NC_000007.13:g.65429313G>A, NG_016197.1:g.22989C>T, NM_000181.4:c.1786C>T, NM_000181.3:c.1786C>T, NR_120531.2:n.1731C>T, NR_120531.1:n.1832C>T, NM_001293104.2:c.1216C>T, NM_001293104.1:c.1216C>T, NM_001293105.2:c.1129C>T, NM_001293105.1:c.1129C>T, NM_001284290.2:c.1348C>T, NM_001284290.1:c.1348C>T, XM_005250297.5:c.1633C>T, XM_005250297.4:c.1633C>T, XM_005250297.3:c.1633C>T, XM_005250297.2:c.1633C>T, XM_005250297.1:c.1633C>T, XM_017012091.2:c.1132C>T, XM_017012091.1:c.1132C>T, XM_047420286.1:c.1285C>T, XM_047420288.1:c.1063C>T, XM_047420289.1:c.976C>T, NP_000172.2:p.Gln596Ter, NP_001280033.1:p.Gln406Ter, NP_001280034.1:p.Gln377Ter, NP_001271219.1:p.Gln450Ter, XP_005250354.1:p.Gln545Ter, XP_016867580.1:p.Gln378Ter, XP_047276242.1:p.Gln429Ter, XP_047276244.1:p.Gln355Ter, XP_047276245.1:p.Gln326Ter

Select item 14829397566.

rs1482939756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:65974369 (GRCh38)
7:65439356 (GRCh37)
Canonical SPDI:: NC_000007.14:65974368:G:A
Gene:: GUSB (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.65974369G>A, NC_000007.13:g.65439356G>A, NG_016197.1:g.12946C>T, NM_000181.4:c.1317C>T, NM_000181.3:c.1317C>T, NR_120531.2:n.1347C>T, NR_120531.1:n.1448C>T, NM_001293104.2:c.747C>T, NM_001293104.1:c.747C>T, NM_001293105.2:c.660C>T, NM_001293105.1:c.660C>T, NM_001284290.2:c.879C>T, NM_001284290.1:c.879C>T, XM_005250297.5:c.1164C>T, XM_005250297.4:c.1164C>T, XM_005250297.3:c.1164C>T, XM_005250297.2:c.1164C>T, XM_005250297.1:c.1164C>T, XM_017012091.2:c.663C>T, XM_017012091.1:c.663C>T, XM_047420286.1:c.816C>T, XM_047420288.1:c.594C>T, XM_047420289.1:c.507C>T, XM_047420287.1:c.*29C>T, XM_047420290.1:c.*29C>T

Select item 14783391057.

rs1478339105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:65980312 (GRCh38)
7:65445299 (GRCh37)
Canonical SPDI:: NC_000007.14:65980311:C:T
Gene:: GUSB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.65980312C>T, NC_000007.13:g.65445299C>T, NG_016197.1:g.7003G>A, NM_000181.4:c.308G>A, NM_000181.3:c.308G>A, NR_120531.2:n.338G>A, NR_120531.1:n.439G>A, NM_001293104.2:c.-78G>A, NM_001293104.1:c.-78G>A, NM_001293105.2:c.-22G>A, NM_001293105.1:c.-22G>A, NM_001284290.2:c.308G>A, NM_001284290.1:c.308G>A, XM_005250297.5:c.308G>A, XM_005250297.4:c.308G>A, XM_005250297.3:c.308G>A, XM_005250297.2:c.308G>A, XM_005250297.1:c.308G>A, XM_017012091.2:c.-22G>A, XM_017012091.1:c.-22G>A, XM_047420286.1:c.-22G>A, XM_047420288.1:c.-78G>A, XM_047420289.1:c.-22G>A, XM_047420287.1:c.308G>A, XM_047420290.1:c.308G>A, NP_000172.2:p.Arg103Gln, NP_001271219.1:p.Arg103Gln, XP_005250354.1:p.Arg103Gln, XP_047276243.1:p.Arg103Gln, XP_047276246.1:p.Arg103Gln

Select item 14763167688.

rs1476316768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:65976058 (GRCh38)
7:65441045 (GRCh37)
Canonical SPDI:: NC_000007.14:65976057:G:A
Gene:: GUSB (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.65976058G>A, NC_000007.13:g.65441045G>A, NG_016197.1:g.11257C>T, NM_000181.4:c.869C>T, NM_000181.3:c.869C>T, NR_120531.2:n.899C>T, NR_120531.1:n.1000C>T, NM_001293104.2:c.299C>T, NM_001293104.1:c.299C>T, NM_001293105.2:c.212C>T, NM_001293105.1:c.212C>T, XM_005250297.5:c.869C>T, XM_005250297.4:c.869C>T, XM_005250297.3:c.869C>T, XM_005250297.2:c.869C>T, XM_005250297.1:c.869C>T, XM_017012091.2:c.368C>T, XM_017012091.1:c.368C>T, XM_047420286.1:c.368C>T, XM_047420288.1:c.299C>T, XM_047420289.1:c.212C>T, XM_047420287.1:c.869C>T, XM_047420290.1:c.869C>T, NP_000172.2:p.Pro290Leu, NP_001280033.1:p.Pro100Leu, NP_001280034.1:p.Pro71Leu, XP_005250354.1:p.Pro290Leu, XP_016867580.1:p.Pro123Leu, XP_047276242.1:p.Pro123Leu, XP_047276244.1:p.Pro100Leu, XP_047276245.1:p.Pro71Leu, XP_047276243.1:p.Pro290Leu, XP_047276246.1:p.Pro290Leu

Select item 14756182919.

rs1475618291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:65979908 (GRCh38)
7:65444895 (GRCh37)
Canonical SPDI:: NC_000007.14:65979907:C:T
Gene:: GUSB (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.65979908C>T, NC_000007.13:g.65444895C>T, NG_016197.1:g.7407G>A, NM_000181.4:c.400G>A, NM_000181.3:c.400G>A, NR_120531.2:n.430G>A, NR_120531.1:n.531G>A, NM_001284290.2:c.400G>A, NM_001284290.1:c.400G>A, XM_005250297.5:c.400G>A, XM_005250297.4:c.400G>A, XM_005250297.3:c.400G>A, XM_005250297.2:c.400G>A, XM_005250297.1:c.400G>A, XM_047420287.1:c.400G>A, XM_047420290.1:c.400G>A, NP_000172.2:p.Val134Met, NP_001271219.1:p.Val134Met, XP_005250354.1:p.Val134Met, XP_047276243.1:p.Val134Met, XP_047276246.1:p.Val134Met

Select item 147388463810.

rs1473884638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:65964398 (GRCh38)
7:65429385 (GRCh37)
Canonical SPDI:: NC_000007.14:65964397:C:T
Gene:: GUSB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.65964398C>T, NC_000007.13:g.65429385C>T, NG_016197.1:g.22917G>A, NM_000181.4:c.1714G>A, NM_000181.3:c.1714G>A, NR_120531.2:n.1659G>A, NR_120531.1:n.1760G>A, NM_001293104.2:c.1144G>A, NM_001293104.1:c.1144G>A, NM_001293105.2:c.1057G>A, NM_001293105.1:c.1057G>A, NM_001284290.2:c.1276G>A, NM_001284290.1:c.1276G>A, XM_005250297.5:c.1561G>A, XM_005250297.4:c.1561G>A, XM_005250297.3:c.1561G>A, XM_005250297.2:c.1561G>A, XM_005250297.1:c.1561G>A, XM_017012091.2:c.1060G>A, XM_017012091.1:c.1060G>A, XM_047420286.1:c.1213G>A, XM_047420288.1:c.991G>A, XM_047420289.1:c.904G>A, NP_000172.2:p.Gly572Ser, NP_001280033.1:p.Gly382Ser, NP_001280034.1:p.Gly353Ser, NP_001271219.1:p.Gly426Ser, XP_005250354.1:p.Gly521Ser, XP_016867580.1:p.Gly354Ser, XP_047276242.1:p.Gly405Ser, XP_047276244.1:p.Gly331Ser, XP_047276245.1:p.Gly302Ser

Select item 147284193011.

rs1472841930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:65967859 (GRCh38)
7:65432846 (GRCh37)
Canonical SPDI:: NC_000007.14:65967858:G:A,NC_000007.14:65967858:G:T
Gene:: GUSB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.65967859G>A, NC_000007.14:g.65967859G>T, NC_000007.13:g.65432846G>A, NC_000007.13:g.65432846G>T, NG_016197.1:g.19456C>T, NG_016197.1:g.19456C>A, NM_000181.4:c.1525C>T, NM_000181.4:c.1525C>A, NM_000181.3:c.1525C>T, NM_000181.3:c.1525C>A, NR_120531.2:n.1470C>T, NR_120531.2:n.1470C>A, NR_120531.1:n.1571C>T, NR_120531.1:n.1571C>A, NM_001293104.2:c.955C>T, NM_001293104.2:c.955C>A, NM_001293104.1:c.955C>T, NM_001293104.1:c.955C>A, NM_001293105.2:c.868C>T, NM_001293105.2:c.868C>A, NM_001293105.1:c.868C>T, NM_001293105.1:c.868C>A, NM_001284290.2:c.1087C>T, NM_001284290.2:c.1087C>A, NM_001284290.1:c.1087C>T, NM_001284290.1:c.1087C>A, XM_005250297.5:c.1372C>T, XM_005250297.5:c.1372C>A, XM_005250297.4:c.1372C>T, XM_005250297.4:c.1372C>A, XM_005250297.3:c.1372C>T, XM_005250297.3:c.1372C>A, XM_005250297.2:c.1372C>T, XM_005250297.2:c.1372C>A, XM_005250297.1:c.1372C>T, XM_005250297.1:c.1372C>A, XM_017012091.2:c.871C>T, XM_017012091.2:c.871C>A, XM_017012091.1:c.871C>T, XM_017012091.1:c.871C>A, XM_047420286.1:c.1024C>T, XM_047420286.1:c.1024C>A, XM_047420288.1:c.802C>T, XM_047420288.1:c.802C>A, XM_047420289.1:c.715C>T, XM_047420289.1:c.715C>A, NP_000172.2:p.His509Tyr, NP_000172.2:p.His509Asn, NP_001280033.1:p.His319Tyr, NP_001280033.1:p.His319Asn, NP_001280034.1:p.His290Tyr, NP_001280034.1:p.His290Asn, NP_001271219.1:p.His363Tyr, NP_001271219.1:p.His363Asn, XP_005250354.1:p.His458Tyr, XP_005250354.1:p.His458Asn, XP_016867580.1:p.His291Tyr, XP_016867580.1:p.His291Asn, XP_047276242.1:p.His342Tyr, XP_047276242.1:p.His342Asn, XP_047276244.1:p.His268Tyr, XP_047276244.1:p.His268Asn, XP_047276245.1:p.His239Tyr, XP_047276245.1:p.His239Asn

Select item 147192534912.

rs1471925349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:65974386 (GRCh38)
7:65439373 (GRCh37)
Canonical SPDI:: NC_000007.14:65974385:C:T
Gene:: GUSB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.65974386C>T, NC_000007.13:g.65439373C>T, NG_016197.1:g.12929G>A, NM_000181.4:c.1300G>A, NM_000181.3:c.1300G>A, NR_120531.2:n.1330G>A, NR_120531.1:n.1431G>A, NM_001293104.2:c.730G>A, NM_001293104.1:c.730G>A, NM_001293105.2:c.643G>A, NM_001293105.1:c.643G>A, NM_001284290.2:c.862G>A, NM_001284290.1:c.862G>A, XM_005250297.5:c.1147G>A, XM_005250297.4:c.1147G>A, XM_005250297.3:c.1147G>A, XM_005250297.2:c.1147G>A, XM_005250297.1:c.1147G>A, XM_017012091.2:c.646G>A, XM_017012091.1:c.646G>A, XM_047420286.1:c.799G>A, XM_047420288.1:c.577G>A, XM_047420289.1:c.490G>A, XM_047420287.1:c.*12G>A, XM_047420290.1:c.*12G>A, NP_000172.2:p.Val434Met, NP_001280033.1:p.Val244Met, NP_001280034.1:p.Val215Met, NP_001271219.1:p.Val288Met, XP_005250354.1:p.Val383Met, XP_016867580.1:p.Val216Met, XP_047276242.1:p.Val267Met, XP_047276244.1:p.Val193Met, XP_047276245.1:p.Val164Met

Select item 146982721113.

rs1469827211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:65979422 (GRCh38)
7:65444409 (GRCh37)
Canonical SPDI:: NC_000007.14:65979421:G:T
Gene:: GUSB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.65979422G>T, NC_000007.13:g.65444409G>T, NG_016197.1:g.7893C>A, NM_000181.4:c.701C>A, NM_000181.3:c.701C>A, NR_120531.2:n.731C>A, NR_120531.1:n.832C>A, NM_001293104.2:c.131C>A, NM_001293104.1:c.131C>A, XM_005250297.5:c.701C>A, XM_005250297.4:c.701C>A, XM_005250297.3:c.701C>A, XM_005250297.2:c.701C>A, XM_005250297.1:c.701C>A, XM_017012091.2:c.187C>A, XM_017012091.1:c.187C>A, XM_047420286.1:c.187C>A, XM_047420288.1:c.131C>A, XM_047420287.1:c.701C>A, XM_047420290.1:c.701C>A, NP_000172.2:p.Thr234Asn, NP_001280033.1:p.Thr44Asn, XP_005250354.1:p.Thr234Asn, XP_016867580.1:p.Pro63Thr, XP_047276242.1:p.Pro63Thr, XP_047276244.1:p.Thr44Asn, XP_047276243.1:p.Thr234Asn, XP_047276246.1:p.Thr234Asn

Select item 146766375914.

rs1467663759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:65979813 (GRCh38)
7:65444800 (GRCh37)
Canonical SPDI:: NC_000007.14:65979812:C:A,NC_000007.14:65979812:C:T
Gene:: GUSB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.65979813C>A, NC_000007.14:g.65979813C>T, NC_000007.13:g.65444800C>A, NC_000007.13:g.65444800C>T, NG_016197.1:g.7502G>T, NG_016197.1:g.7502G>A, NM_000181.4:c.495G>T, NM_000181.4:c.495G>A, NM_000181.3:c.495G>T, NM_000181.3:c.495G>A, NR_120531.2:n.525G>T, NR_120531.2:n.525G>A, NR_120531.1:n.626G>T, NR_120531.1:n.626G>A, XM_005250297.5:c.495G>T, XM_005250297.5:c.495G>A, XM_005250297.4:c.495G>T, XM_005250297.4:c.495G>A, XM_005250297.3:c.495G>T, XM_005250297.3:c.495G>A, XM_005250297.2:c.495G>T, XM_005250297.2:c.495G>A, XM_005250297.1:c.495G>T, XM_005250297.1:c.495G>A, XM_047420287.1:c.495G>T, XM_047420287.1:c.495G>A, XM_047420290.1:c.495G>T, XM_047420290.1:c.495G>A

Select item 146735177015.

rs1467351770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:65970326 (GRCh38)
7:65435313 (GRCh37)
Canonical SPDI:: NC_000007.14:65970325:G:A
Gene:: GUSB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_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_000007.14:g.65970326G>A, NC_000007.13:g.65435313G>A, NG_016197.1:g.16989C>T, NM_000181.4:c.1432C>T, NM_000181.3:c.1432C>T, NM_001293104.2:c.862C>T, NM_001293104.1:c.862C>T, NM_001293105.2:c.775C>T, NM_001293105.1:c.775C>T, NM_001284290.2:c.994C>T, NM_001284290.1:c.994C>T, XM_005250297.5:c.1279C>T, XM_005250297.4:c.1279C>T, XM_005250297.3:c.1279C>T, XM_005250297.2:c.1279C>T, XM_005250297.1:c.1279C>T, XM_017012091.2:c.778C>T, XM_017012091.1:c.778C>T, XM_047420286.1:c.931C>T, XM_047420288.1:c.709C>T, XM_047420289.1:c.622C>T, NP_000172.2:p.Pro478Ser, NP_001280033.1:p.Pro288Ser, NP_001280034.1:p.Pro259Ser, NP_001271219.1:p.Pro332Ser, XP_005250354.1:p.Pro427Ser, XP_016867580.1:p.Pro260Ser, XP_047276242.1:p.Pro311Ser, XP_047276244.1:p.Pro237Ser, XP_047276245.1:p.Pro208Ser

Select item 146722030816.

rs1467220308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:65980294 (GRCh38)
7:65445281 (GRCh37)
Canonical SPDI:: NC_000007.14:65980293:T:C
Gene:: GUSB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.65980294T>C, NC_000007.13:g.65445281T>C, NG_016197.1:g.7021A>G, NM_000181.4:c.326A>G, NM_000181.3:c.326A>G, NR_120531.2:n.356A>G, NR_120531.1:n.457A>G, NM_001293104.2:c.-60A>G, NM_001293104.1:c.-60A>G, NM_001293105.2:c.-4A>G, NM_001293105.1:c.-4A>G, NM_001284290.2:c.326A>G, NM_001284290.1:c.326A>G, XM_005250297.5:c.326A>G, XM_005250297.4:c.326A>G, XM_005250297.3:c.326A>G, XM_005250297.2:c.326A>G, XM_005250297.1:c.326A>G, XM_017012091.2:c.-4A>G, XM_017012091.1:c.-4A>G, XM_047420286.1:c.-4A>G, XM_047420288.1:c.-60A>G, XM_047420289.1:c.-4A>G, XM_047420287.1:c.326A>G, XM_047420290.1:c.326A>G, NP_000172.2:p.Glu109Gly, NP_001271219.1:p.Glu109Gly, XP_005250354.1:p.Glu109Gly, XP_047276243.1:p.Glu109Gly, XP_047276246.1:p.Glu109Gly

Select item 146600932917.

rs1466009329 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:65967853 (GRCh38)
7:65432840 (GRCh37)
Canonical SPDI:: NC_000007.14:65967852:A:C
Gene:: GUSB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.65967853A>C, NC_000007.13:g.65432840A>C, NG_016197.1:g.19462T>G, NM_000181.4:c.1531T>G, NM_000181.3:c.1531T>G, NR_120531.2:n.1476T>G, NR_120531.1:n.1577T>G, NM_001293104.2:c.961T>G, NM_001293104.1:c.961T>G, NM_001293105.2:c.874T>G, NM_001293105.1:c.874T>G, NM_001284290.2:c.1093T>G, NM_001284290.1:c.1093T>G, XM_005250297.5:c.1378T>G, XM_005250297.4:c.1378T>G, XM_005250297.3:c.1378T>G, XM_005250297.2:c.1378T>G, XM_005250297.1:c.1378T>G, XM_017012091.2:c.877T>G, XM_017012091.1:c.877T>G, XM_047420286.1:c.1030T>G, XM_047420288.1:c.808T>G, XM_047420289.1:c.721T>G, NP_000172.2:p.Tyr511Asp, NP_001280033.1:p.Tyr321Asp, NP_001280034.1:p.Tyr292Asp, NP_001271219.1:p.Tyr365Asp, XP_005250354.1:p.Tyr460Asp, XP_016867580.1:p.Tyr293Asp, XP_047276242.1:p.Tyr344Asp, XP_047276244.1:p.Tyr270Asp, XP_047276245.1:p.Tyr241Asp

Select item 146243964918.

rs1462439649 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 7:65964329 (GRCh38)
7:65429317 (GRCh37)
Canonical SPDI:: NC_000007.14:65964329:A:ATA
Gene:: GUSB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: AT=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.65964330_65964331insTA, NC_000007.13:g.65429317_65429318insTA, NG_016197.1:g.22985_22986insAT, NM_000181.4:c.1782_1783insAT, NM_000181.3:c.1782_1783insAT, NR_120531.2:n.1727_1728insAT, NR_120531.1:n.1828_1829insAT, NM_001293104.2:c.1212_1213insAT, NM_001293104.1:c.1212_1213insAT, NM_001293105.2:c.1125_1126insAT, NM_001293105.1:c.1125_1126insAT, NM_001284290.2:c.1344_1345insAT, NM_001284290.1:c.1344_1345insAT, XM_005250297.5:c.1629_1630insAT, XM_005250297.4:c.1629_1630insAT, XM_005250297.3:c.1629_1630insAT, XM_005250297.2:c.1629_1630insAT, XM_005250297.1:c.1629_1630insAT, XM_017012091.2:c.1128_1129insAT, XM_017012091.1:c.1128_1129insAT, XM_047420286.1:c.1281_1282insAT, XM_047420288.1:c.1059_1060insAT, XM_047420289.1:c.972_973insAT, NP_000172.2:p.Glu595fs, NP_001280033.1:p.Glu405fs, NP_001280034.1:p.Glu376fs, NP_001271219.1:p.Glu449fs, XP_005250354.1:p.Glu544fs, XP_016867580.1:p.Glu377fs, XP_047276242.1:p.Glu428fs, XP_047276244.1:p.Glu354fs, XP_047276245.1:p.Glu325fs

Select item 146185904919.

rs1461859049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:65974944 (GRCh38)
7:65439931 (GRCh37)
Canonical SPDI:: NC_000007.14:65974943:C:T
Gene:: GUSB (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.65974944C>T, NC_000007.13:g.65439931C>T, NG_016197.1:g.12371G>A, NM_000181.4:c.1040G>A, NM_000181.3:c.1040G>A, NR_120531.2:n.1070G>A, NR_120531.1:n.1171G>A, NM_001293104.2:c.470G>A, NM_001293104.1:c.470G>A, NM_001293105.2:c.383G>A, NM_001293105.1:c.383G>A, NM_001284290.2:c.602G>A, NM_001284290.1:c.602G>A, XM_047420286.1:c.539G>A, XM_047420287.1:c.1040G>A, NP_000172.2:p.Gly347Asp, NP_001280033.1:p.Gly157Asp, NP_001280034.1:p.Gly128Asp, NP_001271219.1:p.Gly201Asp, XP_047276242.1:p.Gly180Asp, XP_047276243.1:p.Gly347Asp

Select item 145911299320.

rs1459112993 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:65964330 (GRCh38)
7:65429317 (GRCh37)
Canonical SPDI:: NC_000007.14:65964329:A:G
Gene:: GUSB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.65964330A>G, NC_000007.13:g.65429317A>G, NG_016197.1:g.22985T>C, NM_000181.4:c.1782T>C, NM_000181.3:c.1782T>C, NR_120531.2:n.1727T>C, NR_120531.1:n.1828T>C, NM_001293104.2:c.1212T>C, NM_001293104.1:c.1212T>C, NM_001293105.2:c.1125T>C, NM_001293105.1:c.1125T>C, NM_001284290.2:c.1344T>C, NM_001284290.1:c.1344T>C, XM_005250297.5:c.1629T>C, XM_005250297.4:c.1629T>C, XM_005250297.3:c.1629T>C, XM_005250297.2:c.1629T>C, XM_005250297.1:c.1629T>C, XM_017012091.2:c.1128T>C, XM_017012091.1:c.1128T>C, XM_047420286.1:c.1281T>C, XM_047420288.1:c.1059T>C, XM_047420289.1:c.972T>C

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Clinical Significance

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