SNP Links for Protein (Select 100816407) - SNP

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Links from Protein

Items: 1 to 20 of 730

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Select item 14905140831.

rs1490514083 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:76346984 (GRCh38)
12:76740764 (GRCh37)
Canonical SPDI:: NC_000012.12:76346983:A:G
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.76346984A>G, NC_000012.11:g.76740764A>G, NG_016357.1:g.6459T>C, NM_024685.4:c.1001T>C, NM_024685.3:c.1001T>C, NP_078961.3:p.Leu334Ser

Select item 14893429872.

rs1489342987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:76346582 (GRCh38)
12:76740362 (GRCh37)
Canonical SPDI:: NC_000012.12:76346581:G:A
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.76346582G>A, NC_000012.11:g.76740362G>A, NG_016357.1:g.6861C>T, NM_024685.4:c.1403C>T, NM_024685.3:c.1403C>T, NP_078961.3:p.Pro468Leu

Select item 14884687813.

rs1488468781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:76346972 (GRCh38)
12:76740752 (GRCh37)
Canonical SPDI:: NC_000012.12:76346971:T:C
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.76346972T>C, NC_000012.11:g.76740752T>C, NG_016357.1:g.6471A>G, NM_024685.4:c.1013A>G, NM_024685.3:c.1013A>G, NP_078961.3:p.Glu338Gly

Select item 14876323194.

rs1487632319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:76346679 (GRCh38)
12:76740459 (GRCh37)
Canonical SPDI:: NC_000012.12:76346678:T:C
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.76346679T>C, NC_000012.11:g.76740459T>C, NG_016357.1:g.6764A>G, NM_024685.4:c.1306A>G, NM_024685.3:c.1306A>G, NP_078961.3:p.Thr436Ala

Select item 14861821315.

rs1486182131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:76348267 (GRCh38)
12:76742047 (GRCh37)
Canonical SPDI:: NC_000012.12:76348266:G:A,NC_000012.12:76348266:G:C
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.76348267G>A, NC_000012.12:g.76348267G>C, NC_000012.11:g.76742047G>A, NC_000012.11:g.76742047G>C, NG_016357.1:g.5176C>T, NG_016357.1:g.5176C>G, NM_024685.4:c.92C>T, NM_024685.4:c.92C>G, NM_024685.3:c.92C>T, NM_024685.3:c.92C>G, NP_078961.3:p.Pro31Leu, NP_078961.3:p.Pro31Arg

Select item 14845933646.

rs1484593364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:76346821 (GRCh38)
12:76740601 (GRCh37)
Canonical SPDI:: NC_000012.12:76346820:G:A
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.76346821G>A, NC_000012.11:g.76740601G>A, NG_016357.1:g.6622C>T, NM_024685.4:c.1164C>T, NM_024685.3:c.1164C>T

Select item 14811444757.

rs1481144475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:76346619 (GRCh38)
12:76740399 (GRCh37)
Canonical SPDI:: NC_000012.12:76346618:G:C
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.76346619G>C, NC_000012.11:g.76740399G>C, NG_016357.1:g.6824C>G, NM_024685.4:c.1366C>G, NM_024685.3:c.1366C>G, NP_078961.3:p.Gln456Glu

Select item 14807028388.

rs1480702838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:76345898 (GRCh38)
12:76739678 (GRCh37)
Canonical SPDI:: NC_000012.12:76345897:G:C
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.76345898G>C, NC_000012.11:g.76739678G>C, NG_016357.1:g.7545C>G, NM_024685.4:c.2087C>G, NM_024685.3:c.2087C>G, NP_078961.3:p.Thr696Arg

Select item 14804482829.

rs1480448282 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:76346018 (GRCh38)
12:76739798 (GRCh37)
Canonical SPDI:: NC_000012.12:76346017:T:C,NC_000012.12:76346017:T:G
Gene:: BBS10 (Varview)
Functional Consequence:: 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.76346018T>C, NC_000012.12:g.76346018T>G, NC_000012.11:g.76739798T>C, NC_000012.11:g.76739798T>G, NG_016357.1:g.7425A>G, NG_016357.1:g.7425A>C, NM_024685.4:c.1967A>G, NM_024685.4:c.1967A>C, NM_024685.3:c.1967A>G, NM_024685.3:c.1967A>C, NP_078961.3:p.His656Arg, NP_078961.3:p.His656Pro

Select item 147892693510.

rs1478926935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:76346520 (GRCh38)
12:76740300 (GRCh37)
Canonical SPDI:: NC_000012.12:76346519:C:G,NC_000012.12:76346519:C:T
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.76346520C>G, NC_000012.12:g.76346520C>T, NC_000012.11:g.76740300C>G, NC_000012.11:g.76740300C>T, NG_016357.1:g.6923G>C, NG_016357.1:g.6923G>A, NM_024685.4:c.1465G>C, NM_024685.4:c.1465G>A, NM_024685.3:c.1465G>C, NM_024685.3:c.1465G>A, NP_078961.3:p.Val489Leu, NP_078961.3:p.Val489Ile

Select item 147887309711.

rs1478873097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:76346273 (GRCh38)
12:76740053 (GRCh37)
Canonical SPDI:: NC_000012.12:76346272:C:A,NC_000012.12:76346272:C:T
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.76346273C>A, NC_000012.12:g.76346273C>T, NC_000012.11:g.76740053C>A, NC_000012.11:g.76740053C>T, NG_016357.1:g.7170G>T, NG_016357.1:g.7170G>A, NM_024685.4:c.1712G>T, NM_024685.4:c.1712G>A, NM_024685.3:c.1712G>T, NM_024685.3:c.1712G>A, NP_078961.3:p.Gly571Val, NP_078961.3:p.Gly571Glu

Select item 147666465612.

rs1476664656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:76348275 (GRCh38)
12:76742055 (GRCh37)
Canonical SPDI:: NC_000012.12:76348274:G:C,NC_000012.12:76348274:G:T
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Clinical significance:: pathogenic
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.76348275G>C, NC_000012.12:g.76348275G>T, NC_000012.11:g.76742055G>C, NC_000012.11:g.76742055G>T, NG_016357.1:g.5168C>G, NG_016357.1:g.5168C>A, NM_024685.4:c.84C>G, NM_024685.4:c.84C>A, NM_024685.3:c.84C>G, NM_024685.3:c.84C>A, NP_078961.3:p.Cys28Trp, NP_078961.3:p.Cys28Ter

Select item 147566864213.

rs1475668642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:76347273 (GRCh38)
12:76741053 (GRCh37)
Canonical SPDI:: NC_000012.12:76347272:C:T
Gene:: BBS10 (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)
HGVS:: NC_000012.12:g.76347273C>T, NC_000012.11:g.76741053C>T, NG_016357.1:g.6170G>A, NM_024685.4:c.712G>A, NM_024685.3:c.712G>A, NP_078961.3:p.Gly238Ser

Select item 147394013514.

rs1473940135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:76347363 (GRCh38)
12:76741143 (GRCh37)
Canonical SPDI:: NC_000012.12:76347362:T:C
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.76347363T>C, NC_000012.11:g.76741143T>C, NG_016357.1:g.6080A>G, NM_024685.4:c.622A>G, NM_024685.3:c.622A>G, NP_078961.3:p.Ile208Val

Select item 147258463915.

rs1472584639 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:76348183 (GRCh38)
12:76741963 (GRCh37)
Canonical SPDI:: NC_000012.12:76348182:T:C
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.76348183T>C, NC_000012.11:g.76741963T>C, NG_016357.1:g.5260A>G, NM_024685.4:c.176A>G, NM_024685.3:c.176A>G, NP_078961.3:p.His59Arg

Select item 147253301216.

rs1472533012 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 12:76347184 (GRCh38)
12:76740964 (GRCh37)
Canonical SPDI:: NC_000012.12:76347179:AAAAAA:AAAA,NC_000012.12:76347179:AAAAAA:AAAAAAA
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: likely-pathogenic
HGVS:: NC_000012.12:g.76347184_76347185del, NC_000012.12:g.76347185dup, NC_000012.11:g.76740964_76740965del, NC_000012.11:g.76740965dup, NG_016357.1:g.6262_6263del, NG_016357.1:g.6263dup, NM_024685.4:c.804_805del, NM_024685.4:c.805dup, NM_024685.3:c.804_805del, NM_024685.3:c.805dup, NP_078961.3:p.Ser269fs, NP_078961.3:p.Ser269fs

Select item 146956166617.

rs1469561666 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:76346593 (GRCh38)
12:76740373 (GRCh37)
Canonical SPDI:: NC_000012.12:76346592:T:C
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.76346593T>C, NC_000012.11:g.76740373T>C, NG_016357.1:g.6850A>G, NM_024685.4:c.1392A>G, NM_024685.3:c.1392A>G

Select item 146949697818.

rs1469496978 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:76346328 (GRCh38)
12:76740108 (GRCh37)
Canonical SPDI:: NC_000012.12:76346327:T:C
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.76346328T>C, NC_000012.11:g.76740108T>C, NG_016357.1:g.7115A>G, NM_024685.4:c.1657A>G, NM_024685.3:c.1657A>G, NP_078961.3:p.Asn553Asp

Select item 146711292719.

rs1467112927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:76348233 (GRCh38)
12:76742013 (GRCh37)
Canonical SPDI:: NC_000012.12:76348232:A:C,NC_000012.12:76348232:A:G
Gene:: BBS10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.76348233A>C, NC_000012.12:g.76348233A>G, NC_000012.11:g.76742013A>C, NC_000012.11:g.76742013A>G, NG_016357.1:g.5210T>G, NG_016357.1:g.5210T>C, NM_024685.4:c.126T>G, NM_024685.4:c.126T>C, NM_024685.3:c.126T>G, NM_024685.3:c.126T>C

Select item 146627192420.

rs1466271924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:76346678 (GRCh38)
12:76740458 (GRCh37)
Canonical SPDI:: NC_000012.12:76346677:G:A,NC_000012.12:76346677:G:T
Gene:: BBS10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.76346678G>A, NC_000012.12:g.76346678G>T, NC_000012.11:g.76740458G>A, NC_000012.11:g.76740458G>T, NG_016357.1:g.6765C>T, NG_016357.1:g.6765C>A, NM_024685.4:c.1307C>T, NM_024685.4:c.1307C>A, NM_024685.3:c.1307C>T, NM_024685.3:c.1307C>A, NP_078961.3:p.Thr436Ile, NP_078961.3:p.Thr436Asn

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