SNP Links for Protein (Select 664806069) - SNP

Links from Protein

Items: 1 to 20 of 442

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Select item 14895870261.

rs1489587026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:53328160 (GRCh38)
12:53721944 (GRCh37)
Canonical SPDI:: NC_000012.12:53328159:A:T
Gene:: SP7 (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=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53328160A>T, NC_000012.11:g.53721944A>T, NG_023391.2:g.21634T>A, NM_001173467.3:c.1282T>A, NM_001173467.2:c.1282T>A, NM_001173467.1:c.1282T>A, NM_001300837.2:c.1228T>A, NM_001300837.1:c.1228T>A, NM_152860.2:c.1282T>A, NM_152860.1:c.1282T>A, NW_025791795.1:g.51910A>T, NP_001166938.1:p.Leu428Met, NP_001287766.1:p.Leu410Met, NP_690599.1:p.Leu428Met

Select item 14895403822.

rs1489540382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:53328220 (GRCh38)
12:53722004 (GRCh37)
Canonical SPDI:: NC_000012.12:53328219:G:T
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.53328220G>T, NC_000012.11:g.53722004G>T, NG_023391.2:g.21574C>A, NM_001173467.3:c.1222C>A, NM_001173467.2:c.1222C>A, NM_001173467.1:c.1222C>A, NM_001300837.2:c.1168C>A, NM_001300837.1:c.1168C>A, NM_152860.2:c.1222C>A, NM_152860.1:c.1222C>A, NW_025791795.1:g.51970G>T, NP_001166938.1:p.Pro408Thr, NP_001287766.1:p.Pro390Thr, NP_690599.1:p.Pro408Thr

Select item 14883447333.

rs1488344733 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53328334 (GRCh38)
12:53722118 (GRCh37)
Canonical SPDI:: NC_000012.12:53328333:T:C
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53328334T>C, NC_000012.11:g.53722118T>C, NG_023391.2:g.21460A>G, NM_001173467.3:c.1108A>G, NM_001173467.2:c.1108A>G, NM_001173467.1:c.1108A>G, NM_001300837.2:c.1054A>G, NM_001300837.1:c.1054A>G, NM_152860.2:c.1108A>G, NM_152860.1:c.1108A>G, NW_025791795.1:g.52084T>C, NP_001166938.1:p.Ser370Gly, NP_001287766.1:p.Ser352Gly, NP_690599.1:p.Ser370Gly

Select item 14849771144.

rs1484977114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:53328688 (GRCh38)
12:53722472 (GRCh37)
Canonical SPDI:: NC_000012.12:53328687:C:A
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.53328688C>A, NC_000012.11:g.53722472C>A, NG_023391.2:g.21106G>T, NM_001173467.3:c.754G>T, NM_001173467.2:c.754G>T, NM_001173467.1:c.754G>T, NM_001300837.2:c.700G>T, NM_001300837.1:c.700G>T, NM_152860.2:c.754G>T, NM_152860.1:c.754G>T, NW_025791795.1:g.52438C>A, NP_001166938.1:p.Ala252Ser, NP_001287766.1:p.Ala234Ser, NP_690599.1:p.Ala252Ser

Select item 14842227975.

rs1484222797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:53328273 (GRCh38)
12:53722057 (GRCh37)
Canonical SPDI:: NC_000012.12:53328272:T:A
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53328273T>A, NC_000012.11:g.53722057T>A, NG_023391.2:g.21521A>T, NM_001173467.3:c.1169A>T, NM_001173467.2:c.1169A>T, NM_001173467.1:c.1169A>T, NM_001300837.2:c.1115A>T, NM_001300837.1:c.1115A>T, NM_152860.2:c.1169A>T, NM_152860.1:c.1169A>T, NW_025791795.1:g.52023T>A, NP_001166938.1:p.Glu390Val, NP_001287766.1:p.Glu372Val, NP_690599.1:p.Glu390Val

Select item 14779067796.

rs1477906779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53328282 (GRCh38)
12:53722066 (GRCh37)
Canonical SPDI:: NC_000012.12:53328281:C:T
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.53328282C>T, NC_000012.11:g.53722066C>T, NG_023391.2:g.21512G>A, NM_001173467.3:c.1160G>A, NM_001173467.2:c.1160G>A, NM_001173467.1:c.1160G>A, NM_001300837.2:c.1106G>A, NM_001300837.1:c.1106G>A, NM_152860.2:c.1160G>A, NM_152860.1:c.1160G>A, NW_025791795.1:g.52032C>T, NP_001166938.1:p.Gly387Asp, NP_001287766.1:p.Gly369Asp, NP_690599.1:p.Gly387Asp

Select item 14778912877.

rs1477891287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:53328667 (GRCh38)
12:53722451 (GRCh37)
Canonical SPDI:: NC_000012.12:53328666:C:G
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53328667C>G, NC_000012.11:g.53722451C>G, NG_023391.2:g.21127G>C, NM_001173467.3:c.775G>C, NM_001173467.2:c.775G>C, NM_001173467.1:c.775G>C, NM_001300837.2:c.721G>C, NM_001300837.1:c.721G>C, NM_152860.2:c.775G>C, NM_152860.1:c.775G>C, NW_025791795.1:g.52417C>G, NP_001166938.1:p.Gly259Arg, NP_001287766.1:p.Gly241Arg, NP_690599.1:p.Gly259Arg

Select item 14749671188.

rs1474967118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:53328564 (GRCh38)
12:53722348 (GRCh37)
Canonical SPDI:: NC_000012.12:53328563:A:G,NC_000012.12:53328563:A:T
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53328564A>G, NC_000012.12:g.53328564A>T, NC_000012.11:g.53722348A>G, NC_000012.11:g.53722348A>T, NG_023391.2:g.21230T>C, NG_023391.2:g.21230T>A, NM_001173467.3:c.878T>C, NM_001173467.3:c.878T>A, NM_001173467.2:c.878T>C, NM_001173467.2:c.878T>A, NM_001173467.1:c.878T>C, NM_001173467.1:c.878T>A, NM_001300837.2:c.824T>C, NM_001300837.2:c.824T>A, NM_001300837.1:c.824T>C, NM_001300837.1:c.824T>A, NM_152860.2:c.878T>C, NM_152860.2:c.878T>A, NM_152860.1:c.878T>C, NM_152860.1:c.878T>A, NW_025791795.1:g.52314A>G, NW_025791795.1:g.52314A>T, NP_001166938.1:p.Ile293Thr, NP_001166938.1:p.Ile293Asn, NP_001287766.1:p.Ile275Thr, NP_001287766.1:p.Ile275Asn, NP_690599.1:p.Ile293Thr, NP_690599.1:p.Ile293Asn

Select item 14711815959.

rs1471181595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:53329181 (GRCh38)
12:53722965 (GRCh37)
Canonical SPDI:: NC_000012.12:53329180:G:A,NC_000012.12:53329180:G:T
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000012.12:g.53329181G>A, NC_000012.12:g.53329181G>T, NC_000012.11:g.53722965G>A, NC_000012.11:g.53722965G>T, NG_023391.2:g.20613C>T, NG_023391.2:g.20613C>A, NM_001173467.3:c.261C>T, NM_001173467.3:c.261C>A, NM_001173467.2:c.261C>T, NM_001173467.2:c.261C>A, NM_001173467.1:c.261C>T, NM_001173467.1:c.261C>A, NM_001300837.2:c.207C>T, NM_001300837.2:c.207C>A, NM_001300837.1:c.207C>T, NM_001300837.1:c.207C>A, NM_152860.2:c.261C>T, NM_152860.2:c.261C>A, NM_152860.1:c.261C>T, NM_152860.1:c.261C>A, NW_025791795.1:g.52931G>A, NW_025791795.1:g.52931G>T

Select item 147003241510.

rs1470032415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53328760 (GRCh38)
12:53722544 (GRCh37)
Canonical SPDI:: NC_000012.12:53328759:C:T
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53328760C>T, NC_000012.11:g.53722544C>T, NG_023391.2:g.21034G>A, NM_001173467.3:c.682G>A, NM_001173467.2:c.682G>A, NM_001173467.1:c.682G>A, NM_001300837.2:c.628G>A, NM_001300837.1:c.628G>A, NM_152860.2:c.682G>A, NM_152860.1:c.682G>A, NW_025791795.1:g.52510C>T, NP_001166938.1:p.Val228Ile, NP_001287766.1:p.Val210Ile, NP_690599.1:p.Val228Ile

Select item 146747975811.

rs1467479758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53329162 (GRCh38)
12:53722946 (GRCh37)
Canonical SPDI:: NC_000012.12:53329161:G:A
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.53329162G>A, NC_000012.11:g.53722946G>A, NG_023391.2:g.20632C>T, NM_001173467.3:c.280C>T, NM_001173467.2:c.280C>T, NM_001173467.1:c.280C>T, NM_001300837.2:c.226C>T, NM_001300837.1:c.226C>T, NM_152860.2:c.280C>T, NM_152860.1:c.280C>T, NW_025791795.1:g.52912G>A, NP_001166938.1:p.Pro94Ser, NP_001287766.1:p.Pro76Ser, NP_690599.1:p.Pro94Ser

Select item 146250767212.

rs1462507672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53329103 (GRCh38)
12:53722887 (GRCh37)
Canonical SPDI:: NC_000012.12:53329102:G:A
Gene:: SP7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.53329103G>A, NC_000012.11:g.53722887G>A, NG_023391.2:g.20691C>T, NM_001173467.3:c.339C>T, NM_001173467.2:c.339C>T, NM_001173467.1:c.339C>T, NM_001300837.2:c.285C>T, NM_001300837.1:c.285C>T, NM_152860.2:c.339C>T, NM_152860.1:c.339C>T, NW_025791795.1:g.52853G>A

Select item 146198477313.

rs1461984773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53328902 (GRCh38)
12:53722686 (GRCh37)
Canonical SPDI:: NC_000012.12:53328901:C:T
Gene:: SP7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53328902C>T, NC_000012.11:g.53722686C>T, NG_023391.2:g.20892G>A, NM_001173467.3:c.540G>A, NM_001173467.2:c.540G>A, NM_001173467.1:c.540G>A, NM_001300837.2:c.486G>A, NM_001300837.1:c.486G>A, NM_152860.2:c.540G>A, NM_152860.1:c.540G>A, NW_025791795.1:g.52652C>T

Select item 145963777914.

rs1459637779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53329285 (GRCh38)
12:53723069 (GRCh37)
Canonical SPDI:: NC_000012.12:53329284:C:T
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53329285C>T, NC_000012.11:g.53723069C>T, NG_023391.2:g.20509G>A, NM_001173467.3:c.157G>A, NM_001173467.2:c.157G>A, NM_001173467.1:c.157G>A, NM_001300837.2:c.103G>A, NM_001300837.1:c.103G>A, NM_152860.2:c.157G>A, NM_152860.1:c.157G>A, NW_025791795.1:g.53035C>T, NP_001166938.1:p.Asp53Asn, NP_001287766.1:p.Asp35Asn, NP_690599.1:p.Asp53Asn

Select item 145841651915.

rs1458416519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53328224 (GRCh38)
12:53722008 (GRCh37)
Canonical SPDI:: NC_000012.12:53328223:G:A
Gene:: SP7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.53328224G>A, NC_000012.11:g.53722008G>A, NG_023391.2:g.21570C>T, NM_001173467.3:c.1218C>T, NM_001173467.2:c.1218C>T, NM_001173467.1:c.1218C>T, NM_001300837.2:c.1164C>T, NM_001300837.1:c.1164C>T, NM_152860.2:c.1218C>T, NM_152860.1:c.1218C>T, NW_025791795.1:g.51974G>A

Select item 145631825116.

rs1456318251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:53328407 (GRCh38)
12:53722191 (GRCh37)
Canonical SPDI:: NC_000012.12:53328406:C:G
Gene:: SP7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53328407C>G, NC_000012.11:g.53722191C>G, NG_023391.2:g.21387G>C, NM_001173467.3:c.1035G>C, NM_001173467.2:c.1035G>C, NM_001173467.1:c.1035G>C, NM_001300837.2:c.981G>C, NM_001300837.1:c.981G>C, NM_152860.2:c.1035G>C, NM_152860.1:c.1035G>C, NW_025791795.1:g.52157C>G

Select item 145360461317.

rs1453604613 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:53328172 (GRCh38)
12:53721957 (GRCh37)
Canonical SPDI:: NC_000012.12:53328172::T
Gene:: SP7 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.53328172_53328173insT, NC_000012.11:g.53721956_53721957insT, NG_023391.2:g.21621_21622insA, NM_001173467.3:c.1269_1270insA, NM_001173467.2:c.1269_1270insA, NM_001173467.1:c.1269_1270insA, NM_001300837.2:c.1215_1216insA, NM_001300837.1:c.1215_1216insA, NM_152860.2:c.1269_1270insA, NM_152860.1:c.1269_1270insA, NW_025791795.1:g.51922_51923insT, NP_001166938.1:p.Glu424fs, NP_001287766.1:p.Glu406fs, NP_690599.1:p.Glu424fs

Select item 145339538918.

rs1453395389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:53328770 (GRCh38)
12:53722554 (GRCh37)
Canonical SPDI:: NC_000012.12:53328769:C:G
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53328770C>G, NC_000012.11:g.53722554C>G, NG_023391.2:g.21024G>C, NM_001173467.3:c.672G>C, NM_001173467.2:c.672G>C, NM_001173467.1:c.672G>C, NM_001300837.2:c.618G>C, NM_001300837.1:c.618G>C, NM_152860.2:c.672G>C, NM_152860.1:c.672G>C, NW_025791795.1:g.52520C>G, NP_001166938.1:p.Leu224Phe, NP_001287766.1:p.Leu206Phe, NP_690599.1:p.Leu224Phe

Select item 144793959219.

rs1447939592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53328205 (GRCh38)
12:53721989 (GRCh37)
Canonical SPDI:: NC_000012.12:53328204:C:T
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.53328205C>T, NC_000012.11:g.53721989C>T, NG_023391.2:g.21589G>A, NM_001173467.3:c.1237G>A, NM_001173467.2:c.1237G>A, NM_001173467.1:c.1237G>A, NM_001300837.2:c.1183G>A, NM_001300837.1:c.1183G>A, NM_152860.2:c.1237G>A, NM_152860.1:c.1237G>A, NW_025791795.1:g.51955C>T, NP_001166938.1:p.Ala413Thr, NP_001287766.1:p.Ala395Thr, NP_690599.1:p.Ala413Thr

Select item 144715193020.

rs1447151930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53329072 (GRCh38)
12:53722856 (GRCh37)
Canonical SPDI:: NC_000012.12:53329071:T:C
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.53329072T>C, NC_000012.11:g.53722856T>C, NG_023391.2:g.20722A>G, NM_001173467.3:c.370A>G, NM_001173467.2:c.370A>G, NM_001173467.1:c.370A>G, NM_001300837.2:c.316A>G, NM_001300837.1:c.316A>G, NM_152860.2:c.370A>G, NM_152860.1:c.370A>G, NW_025791795.1:g.52822T>C, NP_001166938.1:p.Ser124Gly, NP_001287766.1:p.Ser106Gly, NP_690599.1:p.Ser124Gly

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