SNP Links for Protein (Select 4502403) - SNP

Links from Protein

Items: 1 to 20 of 241

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Select item 14886705371.

rs1488670537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153505341 (GRCh38)
X:152770799 (GRCh37)
Canonical SPDI:: NC_000023.11:153505340:G:A
Gene:: BGN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153505341G>A, NC_000023.10:g.152770799G>A, NG_015961.1:g.15389G>A, NM_001711.6:c.342G>A, NM_001711.5:c.342G>A, NM_001711.4:c.342G>A, NW_003871103.3:g.939324G>A, XM_017029724.3:c.342G>A, XM_017029724.2:c.342G>A, XM_017029724.1:c.342G>A

Select item 14759769532.

rs1475976953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:153507182 (GRCh38)
X:152772640 (GRCh37)
Canonical SPDI:: NC_000023.11:153507181:C:G
Gene:: BGN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153507182C>G, NC_000023.10:g.152772640C>G, NG_015961.1:g.17230C>G, NM_001711.6:c.906C>G, NM_001711.5:c.906C>G, NM_001711.4:c.906C>G, NW_003871103.3:g.941165C>G, XM_017029724.3:c.906C>G, XM_017029724.2:c.906C>G, XM_017029724.1:c.906C>G

Select item 14750298973.

rs1475029897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153505315 (GRCh38)
X:152770773 (GRCh37)
Canonical SPDI:: NC_000023.11:153505314:C:T
Gene:: BGN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153505315C>T, NC_000023.10:g.152770773C>T, NG_015961.1:g.15363C>T, NM_001711.6:c.316C>T, NM_001711.5:c.316C>T, NM_001711.4:c.316C>T, NW_003871103.3:g.939298C>T, XM_017029724.3:c.316C>T, XM_017029724.2:c.316C>T, XM_017029724.1:c.316C>T, NP_001702.1:p.Arg106Cys, XP_016885213.1:p.Arg106Cys

Select item 14690062474.

rs1469006247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153505308 (GRCh38)
X:152770766 (GRCh37)
Canonical SPDI:: NC_000023.11:153505307:C:T
Gene:: BGN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.153505308C>T, NC_000023.10:g.152770766C>T, NG_015961.1:g.15356C>T, NM_001711.6:c.309C>T, NM_001711.5:c.309C>T, NM_001711.4:c.309C>T, NW_003871103.3:g.939291C>T, XM_017029724.3:c.309C>T, XM_017029724.2:c.309C>T, XM_017029724.1:c.309C>T

Select item 14591071165.

rs1459107116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153508445 (GRCh38)
X:152773903 (GRCh37)
Canonical SPDI:: NC_000023.11:153508444:G:A
Gene:: BGN (Varview)
Functional Consequence:: terminator_codon_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.153508445G>A, NC_000023.10:g.152773903G>A, NG_015961.1:g.18493G>A, NM_001711.6:c.1107G>A, NM_001711.5:c.1107G>A, NM_001711.4:c.1107G>A, NW_003871103.3:g.942428G>A, XM_017029724.3:c.1107G>A, XM_017029724.2:c.1107G>A, XM_017029724.1:c.1107G>A

Select item 14471834756.

rs1447183475 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:153508291 (GRCh38)
X:152773749 (GRCh37)
Canonical SPDI:: NC_000023.11:153508290:A:G
Gene:: BGN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.153508291A>G, NC_000023.10:g.152773749A>G, NG_015961.1:g.18339A>G, NM_001711.6:c.953A>G, NM_001711.5:c.953A>G, NM_001711.4:c.953A>G, NW_003871103.3:g.942274A>G, XM_017029724.3:c.953A>G, XM_017029724.2:c.953A>G, XM_017029724.1:c.953A>G, NP_001702.1:p.Asn318Ser, XP_016885213.1:p.Asn318Ser

Select item 14403016027.

rs1440301602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: X:153504640 (GRCh38)
X:152770098 (GRCh37)
Canonical SPDI:: NC_000023.11:153504639:C:A,NC_000023.11:153504639:C:G,NC_000023.11:153504639:C:T
Gene:: BGN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.153504640C>A, NC_000023.11:g.153504640C>G, NC_000023.11:g.153504640C>T, NC_000023.10:g.152770098C>A, NC_000023.10:g.152770098C>G, NC_000023.10:g.152770098C>T, NG_015961.1:g.14688C>A, NG_015961.1:g.14688C>G, NG_015961.1:g.14688C>T, NM_001711.6:c.9C>A, NM_001711.6:c.9C>G, NM_001711.6:c.9C>T, NM_001711.5:c.9C>A, NM_001711.5:c.9C>G, NM_001711.5:c.9C>T, NM_001711.4:c.9C>A, NM_001711.4:c.9C>G, NM_001711.4:c.9C>T, NW_003871103.3:g.938623C>A, NW_003871103.3:g.938623C>G, NW_003871103.3:g.938623C>T, XM_017029724.3:c.9C>A, XM_017029724.3:c.9C>G, XM_017029724.3:c.9C>T, XM_017029724.2:c.9C>A, XM_017029724.2:c.9C>G, XM_017029724.2:c.9C>T, XM_017029724.1:c.9C>A, XM_017029724.1:c.9C>G, XM_017029724.1:c.9C>T

Select item 14355878338.

rs1435587833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:153508410 (GRCh38)
X:152773868 (GRCh37)
Canonical SPDI:: NC_000023.11:153508409:C:G,NC_000023.11:153508409:C:T
Gene:: BGN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.153508410C>G, NC_000023.11:g.153508410C>T, NC_000023.10:g.152773868C>G, NC_000023.10:g.152773868C>T, NG_015961.1:g.18458C>G, NG_015961.1:g.18458C>T, NM_001711.6:c.1072C>G, NM_001711.6:c.1072C>T, NM_001711.5:c.1072C>G, NM_001711.5:c.1072C>T, NM_001711.4:c.1072C>G, NM_001711.4:c.1072C>T, NW_003871103.3:g.942393C>G, NW_003871103.3:g.942393C>T, XM_017029724.3:c.1072C>G, XM_017029724.3:c.1072C>T, XM_017029724.2:c.1072C>G, XM_017029724.2:c.1072C>T, XM_017029724.1:c.1072C>G, XM_017029724.1:c.1072C>T, NP_001702.1:p.Arg358Gly, NP_001702.1:p.Arg358Cys, XP_016885213.1:p.Arg358Gly, XP_016885213.1:p.Arg358Cys

Select item 14203962069.

rs1420396206 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:153506606 (GRCh38)
X:152772064 (GRCh37)
Canonical SPDI:: NC_000023.11:153506605:A:G
Gene:: BGN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.153506606A>G, NC_000023.10:g.152772064A>G, NG_015961.1:g.16654A>G, NM_001711.6:c.643A>G, NM_001711.5:c.643A>G, NM_001711.4:c.643A>G, NW_003871103.3:g.940589A>G, XM_017029724.3:c.643A>G, XM_017029724.2:c.643A>G, XM_017029724.1:c.643A>G, NP_001702.1:p.Ile215Val, XP_016885213.1:p.Ile215Val

Select item 141896419710.

rs1418964197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153506904 (GRCh38)
X:152772362 (GRCh37)
Canonical SPDI:: NC_000023.11:153506903:C:T
Gene:: BGN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000019/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.153506904C>T, NC_000023.10:g.152772362C>T, NG_015961.1:g.16952C>T, NM_001711.6:c.751C>T, NM_001711.5:c.751C>T, NM_001711.4:c.751C>T, NW_003871103.3:g.940887C>T, XM_017029724.3:c.751C>T, XM_017029724.2:c.751C>T, XM_017029724.1:c.751C>T, NP_001702.1:p.Arg251Cys, XP_016885213.1:p.Arg251Cys

Select item 141678018611.

rs1416780186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153507095 (GRCh38)
X:152772553 (GRCh37)
Canonical SPDI:: NC_000023.11:153507094:G:A
Gene:: BGN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153507095G>A, NC_000023.10:g.152772553G>A, NG_015961.1:g.17143G>A, NM_001711.6:c.819G>A, NM_001711.5:c.819G>A, NM_001711.4:c.819G>A, NW_003871103.3:g.941078G>A, XM_017029724.3:c.819G>A, XM_017029724.2:c.819G>A, XM_017029724.1:c.819G>A

Select item 141309381312.

rs1413093813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:153505887 (GRCh38)
X:152771345 (GRCh37)
Canonical SPDI:: NC_000023.11:153505886:A:G
Gene:: BGN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000019/5 (TOPMED)
G=0.000027/5 (GnomAD_exomes)
HGVS:: NC_000023.11:g.153505887A>G, NC_000023.10:g.152771345A>G, NG_015961.1:g.15935A>G, NM_001711.6:c.376A>G, NM_001711.5:c.376A>G, NM_001711.4:c.376A>G, NW_003871103.3:g.939870A>G, XM_017029724.3:c.376A>G, XM_017029724.2:c.376A>G, XM_017029724.1:c.376A>G, NP_001702.1:p.Ile126Val, XP_016885213.1:p.Ile126Val

Select item 141086715713.

rs1410867157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153507176 (GRCh38)
X:152772634 (GRCh37)
Canonical SPDI:: NC_000023.11:153507175:G:A
Gene:: BGN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153507176G>A, NC_000023.10:g.152772634G>A, NG_015961.1:g.17224G>A, NM_001711.6:c.900G>A, NM_001711.5:c.900G>A, NM_001711.4:c.900G>A, NW_003871103.3:g.941159G>A, XM_017029724.3:c.900G>A, XM_017029724.2:c.900G>A, XM_017029724.1:c.900G>A

Select item 141068794514.

rs1410687945 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: X:153506891 (GRCh38)
X:152772349 (GRCh37)
Canonical SPDI:: NC_000023.11:153506890:GG:G
Gene:: BGN (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153506892del, NC_000023.10:g.152772350del, NG_015961.1:g.16940del, NM_001711.6:c.739del, NM_001711.5:c.739del, NM_001711.4:c.739del, NW_003871103.3:g.940875del, XM_017029724.3:c.739del, XM_017029724.2:c.739del, XM_017029724.1:c.739del, NP_001702.1:p.Glu247fs, XP_016885213.1:p.Glu247fs

Select item 139958111415.

rs1399581114 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:153504853 (GRCh38)
X:152770311 (GRCh37)
Canonical SPDI:: NC_000023.11:153504852:T:C
Gene:: BGN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000023.11:g.153504853T>C, NC_000023.10:g.152770311T>C, NG_015961.1:g.14901T>C, NM_001711.6:c.222T>C, NM_001711.5:c.222T>C, NM_001711.4:c.222T>C, NW_003871103.3:g.938836T>C, XM_017029724.3:c.222T>C, XM_017029724.2:c.222T>C, XM_017029724.1:c.222T>C

Select item 139678388316.

rs1396783883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:153506915 (GRCh38)
X:152772373 (GRCh37)
Canonical SPDI:: NC_000023.11:153506914:G:A,NC_000023.11:153506914:G:C
Gene:: BGN (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153506915G>A, NC_000023.11:g.153506915G>C, NC_000023.10:g.152772373G>A, NC_000023.10:g.152772373G>C, NG_015961.1:g.16963G>A, NG_015961.1:g.16963G>C, NM_001711.6:c.762G>A, NM_001711.6:c.762G>C, NM_001711.5:c.762G>A, NM_001711.5:c.762G>C, NM_001711.4:c.762G>A, NM_001711.4:c.762G>C, NW_003871103.3:g.940898G>A, NW_003871103.3:g.940898G>C, XM_017029724.3:c.762G>A, XM_017029724.3:c.762G>C, XM_017029724.2:c.762G>A, XM_017029724.2:c.762G>C, XM_017029724.1:c.762G>A, XM_017029724.1:c.762G>C, NP_001702.1:p.Lys254Asn, XP_016885213.1:p.Lys254Asn

Select item 138755393517.

rs1387553935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:153508411 (GRCh38)
X:152773869 (GRCh37)
Canonical SPDI:: NC_000023.11:153508410:G:A,NC_000023.11:153508410:G:T
Gene:: BGN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000087/2 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/3 (GnomAD)
A=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.153508411G>A, NC_000023.11:g.153508411G>T, NC_000023.10:g.152773869G>A, NC_000023.10:g.152773869G>T, NG_015961.1:g.18459G>A, NG_015961.1:g.18459G>T, NM_001711.6:c.1073G>A, NM_001711.6:c.1073G>T, NM_001711.5:c.1073G>A, NM_001711.5:c.1073G>T, NM_001711.4:c.1073G>A, NM_001711.4:c.1073G>T, NW_003871103.3:g.942394G>A, NW_003871103.3:g.942394G>T, XM_017029724.3:c.1073G>A, XM_017029724.3:c.1073G>T, XM_017029724.2:c.1073G>A, XM_017029724.2:c.1073G>T, XM_017029724.1:c.1073G>A, XM_017029724.1:c.1073G>T, NP_001702.1:p.Arg358His, NP_001702.1:p.Arg358Leu, XP_016885213.1:p.Arg358His, XP_016885213.1:p.Arg358Leu

Select item 138627096918.

rs1386270969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153506571 (GRCh38)
X:152772029 (GRCh37)
Canonical SPDI:: NC_000023.11:153506570:G:A
Gene:: BGN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.153506571G>A, NC_000023.10:g.152772029G>A, NG_015961.1:g.16619G>A, NM_001711.6:c.608G>A, NM_001711.5:c.608G>A, NM_001711.4:c.608G>A, NW_003871103.3:g.940554G>A, XM_017029724.3:c.608G>A, XM_017029724.2:c.608G>A, XM_017029724.1:c.608G>A, NP_001702.1:p.Gly203Glu, XP_016885213.1:p.Gly203Glu

Select item 137993587619.

rs1379935876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153508259 (GRCh38)
X:152773717 (GRCh37)
Canonical SPDI:: NC_000023.11:153508258:G:A
Gene:: BGN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153508259G>A, NC_000023.10:g.152773717G>A, NG_015961.1:g.18307G>A, NM_001711.6:c.921G>A, NM_001711.5:c.921G>A, NM_001711.4:c.921G>A, NW_003871103.3:g.942242G>A, XM_017029724.3:c.921G>A, XM_017029724.2:c.921G>A, XM_017029724.1:c.921G>A

Select item 137379480420.

rs1373794804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:153506848 (GRCh38)
X:152772306 (GRCh37)
Canonical SPDI:: NC_000023.11:153506847:A:G
Gene:: BGN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.153506848A>G, NC_000023.10:g.152772306A>G, NG_015961.1:g.16896A>G, NM_001711.6:c.695A>G, NM_001711.5:c.695A>G, NM_001711.4:c.695A>G, NW_003871103.3:g.940831A>G, XM_017029724.3:c.695A>G, XM_017029724.2:c.695A>G, XM_017029724.1:c.695A>G, NP_001702.1:p.Asn232Ser, XP_016885213.1:p.Asn232Ser

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Links from Protein

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