SNP Links for Protein (Select 19743907) - SNP

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Links from Protein

Items: 1 to 20 of 302

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Select item 14876711651.

rs1487671165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:74660717 (GRCh38)
9:77275633 (GRCh37)
Canonical SPDI:: NC_000009.12:74660716:A:G
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.74660717A>G, NC_000009.11:g.77275633A>G, NG_046926.2:g.168382A>G, NM_006914.4:c.738A>G, NM_006914.3:c.738A>G, NM_001365023.1:c.771A>G

Select item 14876346912.

rs1487634691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:74685585 (GRCh38)
9:77300501 (GRCh37)
Canonical SPDI:: NC_000009.12:74685584:C:T
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74685585C>T, NC_000009.11:g.77300501C>T, NG_046926.2:g.193250C>T, NM_006914.4:c.1347C>T, NM_006914.3:c.1347C>T, NM_001365023.1:c.1380C>T, NG_078845.1:g.193C>T

Select item 14870314113.

rs1487031411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:74662516 (GRCh38)
9:77277432 (GRCh37)
Canonical SPDI:: NC_000009.12:74662515:C:G
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74662516C>G, NC_000009.11:g.77277432C>G, NG_046926.2:g.170181C>G, NM_006914.4:c.802C>G, NM_006914.3:c.802C>G, NM_001365023.1:c.835C>G, NP_008845.2:p.His268Asp, NP_001351952.1:p.His279Asp

Select item 14869516384.

rs1486951638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:74642694 (GRCh38)
9:77257610 (GRCh37)
Canonical SPDI:: NC_000009.12:74642693:G:C
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74642694G>C, NC_000009.11:g.77257610G>C, NG_046926.2:g.150359G>C, NM_006914.4:c.516G>C, NM_006914.3:c.516G>C, NM_001365023.1:c.549G>C, NP_008845.2:p.Met172Ile, NP_001351952.1:p.Met183Ile

Select item 14863741095.

rs1486374109 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:74642463 (GRCh38)
9:77257379 (GRCh37)
Canonical SPDI:: NC_000009.12:74642462:T:G
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74642463T>G, NC_000009.11:g.77257379T>G, NG_046926.2:g.150128T>G, NM_006914.4:c.285T>G, NM_006914.3:c.285T>G, NM_001365023.1:c.318T>G

Select item 14860496096.

rs1486049609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:74642773 (GRCh38)
9:77257689 (GRCh37)
Canonical SPDI:: NC_000009.12:74642772:A:C
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74642773A>C, NC_000009.11:g.77257689A>C, NG_046926.2:g.150438A>C, NM_006914.4:c.595A>C, NM_006914.3:c.595A>C, NM_001365023.1:c.628A>C, NP_008845.2:p.Asn199His, NP_001351952.1:p.Asn210His

Select item 14812814757.

rs1481281475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:74642547 (GRCh38)
9:77257463 (GRCh37)
Canonical SPDI:: NC_000009.12:74642546:C:G
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74642547C>G, NC_000009.11:g.77257463C>G, NG_046926.2:g.150212C>G, NM_006914.4:c.369C>G, NM_006914.3:c.369C>G, NM_001365023.1:c.402C>G, NP_008845.2:p.Ser123Arg, NP_001351952.1:p.Ser134Arg

Select item 14774227568.

rs1477422756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:74660701 (GRCh38)
9:77275617 (GRCh37)
Canonical SPDI:: NC_000009.12:74660700:C:A,NC_000009.12:74660700:C:T
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.74660701C>A, NC_000009.12:g.74660701C>T, NC_000009.11:g.77275617C>A, NC_000009.11:g.77275617C>T, NG_046926.2:g.168366C>A, NG_046926.2:g.168366C>T, NM_006914.4:c.722C>A, NM_006914.4:c.722C>T, NM_006914.3:c.722C>A, NM_006914.3:c.722C>T, NM_001365023.1:c.755C>A, NM_001365023.1:c.755C>T, NP_008845.2:p.Thr241Asn, NP_008845.2:p.Thr241Ile, NP_001351952.1:p.Thr252Asn, NP_001351952.1:p.Thr252Ile

Select item 14770816799.

rs1477081679 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:74685515 (GRCh38)
9:77300431 (GRCh37)
Canonical SPDI:: NC_000009.12:74685514:A:G
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.74685515A>G, NC_000009.11:g.77300431A>G, NG_046926.2:g.193180A>G, NM_006914.4:c.1277A>G, NM_006914.3:c.1277A>G, NM_001365023.1:c.1310A>G, NG_078845.1:g.123A>G, NP_008845.2:p.Lys426Arg, NP_001351952.1:p.Lys437Arg

Select item 147359309010.

rs1473593090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:74667801 (GRCh38)
9:77282717 (GRCh37)
Canonical SPDI:: NC_000009.12:74667800:C:G
Gene:: RORB (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_000009.12:g.74667801C>G, NC_000009.11:g.77282717C>G, NG_046926.2:g.175466C>G, NM_006914.4:c.1011C>G, NM_006914.3:c.1011C>G, NM_001365023.1:c.1044C>G, NP_008845.2:p.Asp337Glu, NP_001351952.1:p.Asp348Glu

Select item 147110230611.

rs1471102306 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:74630355 (GRCh38)
9:77245271 (GRCh37)
Canonical SPDI:: NC_000009.12:74630354:T:C
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74630355T>C, NC_000009.11:g.77245271T>C, NG_046926.2:g.138020T>C, NM_006914.4:c.81T>C, NM_006914.3:c.81T>C, NM_001365023.1:c.114T>C

Select item 147035132812.

rs1470351328 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:74665578 (GRCh38)
9:77280494 (GRCh37)
Canonical SPDI:: NC_000009.12:74665577:A:C
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.74665578A>C, NC_000009.11:g.77280494A>C, NG_046926.2:g.173243A>C, NM_006914.4:c.983A>C, NM_006914.3:c.983A>C, NM_001365023.1:c.1016A>C, NP_008845.2:p.Gln328Pro, NP_001351952.1:p.Gln339Pro

Select item 146606145613.

rs1466061456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:74665519 (GRCh38)
9:77280435 (GRCh37)
Canonical SPDI:: NC_000009.12:74665518:C:T
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.74665519C>T, NC_000009.11:g.77280435C>T, NG_046926.2:g.173184C>T, NM_006914.4:c.924C>T, NM_006914.3:c.924C>T, NM_001365023.1:c.957C>T

Select item 146352822214.

rs1463528222 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAC>- [Show Flanks]
Chromosome:: 9:74642581 (GRCh38)
9:77257497 (GRCh37)
Canonical SPDI:: NC_000009.12:74642577:AACAAC:AAC
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74642578AAC[1], NC_000009.11:g.77257494AAC[1], NG_046926.2:g.150243AAC[1], NM_006914.4:c.400AAC[1], NM_006914.3:c.400AAC[1], NM_001365023.1:c.433AAC[1], NP_008845.2:p.Asn135del, NP_001351952.1:p.Asn146del

Select item 145971400115.

rs1459714001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:74685492 (GRCh38)
9:77300408 (GRCh37)
Canonical SPDI:: NC_000009.12:74685491:A:G
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74685492A>G, NC_000009.11:g.77300408A>G, NG_046926.2:g.193157A>G, NM_006914.4:c.1254A>G, NM_006914.3:c.1254A>G, NM_001365023.1:c.1287A>G, NG_078845.1:g.100A>G

Select item 145900744016.

rs1459007440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:74660657 (GRCh38)
9:77275573 (GRCh37)
Canonical SPDI:: NC_000009.12:74660656:A:G
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74660657A>G, NC_000009.11:g.77275573A>G, NG_046926.2:g.168322A>G, NM_006914.4:c.678A>G, NM_006914.3:c.678A>G, NM_001365023.1:c.711A>G

Select item 145449348017.

rs1454493480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:74660686 (GRCh38)
9:77275602 (GRCh37)
Canonical SPDI:: NC_000009.12:74660685:A:G
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.74660686A>G, NC_000009.11:g.77275602A>G, NG_046926.2:g.168351A>G, NM_006914.4:c.707A>G, NM_006914.3:c.707A>G, NM_001365023.1:c.740A>G, NP_008845.2:p.Gln236Arg, NP_001351952.1:p.Gln247Arg

Select item 145287782918.

rs1452877829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:74642613 (GRCh38)
9:77257529 (GRCh37)
Canonical SPDI:: NC_000009.12:74642612:C:G,NC_000009.12:74642612:C:T
Gene:: RORB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.74642613C>G, NC_000009.12:g.74642613C>T, NC_000009.11:g.77257529C>G, NC_000009.11:g.77257529C>T, NG_046926.2:g.150278C>G, NG_046926.2:g.150278C>T, NM_006914.4:c.435C>G, NM_006914.4:c.435C>T, NM_006914.3:c.435C>G, NM_006914.3:c.435C>T, NM_001365023.1:c.468C>G, NM_001365023.1:c.468C>T, NP_008845.2:p.His145Gln, NP_001351952.1:p.His156Gln

Select item 144769696619.

rs1447696966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:74642765 (GRCh38)
9:77257681 (GRCh37)
Canonical SPDI:: NC_000009.12:74642764:G:T
Gene:: RORB (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_000009.12:g.74642765G>T, NC_000009.11:g.77257681G>T, NG_046926.2:g.150430G>T, NM_006914.4:c.587G>T, NM_006914.3:c.587G>T, NM_001365023.1:c.620G>T, NP_008845.2:p.Ser196Ile, NP_001351952.1:p.Ser207Ile

Select item 144359966820.

rs1443599668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:74634651 (GRCh38)
9:77249567 (GRCh37)
Canonical SPDI:: NC_000009.12:74634650:G:A
Gene:: RORB (Varview), LOC105376088 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000009.12:g.74634651G>A, NC_000009.11:g.77249567G>A, NG_046926.2:g.142316G>A, NM_006914.4:c.114G>A, NM_006914.3:c.114G>A, NM_001365023.1:c.147G>A

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