SNP Links for Protein (Select 8393018) - SNP

Links from Protein

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Select item 14859796731.

rs1485979673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:29006441 (GRCh38)
21:30378762 (GRCh37)
Canonical SPDI:: NC_000021.9:29006440:C:A
Gene:: RWDD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000021.9:g.29006441C>A, NC_000021.8:g.30378762C>A, NW_025791813.1:g.97175C>A, NM_016940.3:c.936G>T, NM_016940.2:c.936G>T, NM_001320724.2:c.849G>T, NM_001320724.1:c.849G>T, NP_058636.1:p.Met312Ile, NP_001307653.1:p.Met283Ile

Select item 14839623392.

rs1483962339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 21:29006598 (GRCh38)
21:30378919 (GRCh37)
Canonical SPDI:: NC_000021.9:29006597:G:A,NC_000021.9:29006597:G:C,NC_000021.9:29006597:G:T
Gene:: RWDD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.29006598G>A, NC_000021.9:g.29006598G>C, NC_000021.9:g.29006598G>T, NC_000021.8:g.30378919G>A, NC_000021.8:g.30378919G>C, NC_000021.8:g.30378919G>T, NW_025791813.1:g.97332G>A, NW_025791813.1:g.97332G>C, NW_025791813.1:g.97332G>T, NM_016940.3:c.779C>T, NM_016940.3:c.779C>G, NM_016940.3:c.779C>A, NM_016940.2:c.779C>T, NM_016940.2:c.779C>G, NM_016940.2:c.779C>A, NM_001320724.2:c.692C>T, NM_001320724.2:c.692C>G, NM_001320724.2:c.692C>A, NM_001320724.1:c.692C>T, NM_001320724.1:c.692C>G, NM_001320724.1:c.692C>A, NP_058636.1:p.Pro260Leu, NP_058636.1:p.Pro260Arg, NP_058636.1:p.Pro260His, NP_001307653.1:p.Pro231Leu, NP_001307653.1:p.Pro231Arg, NP_001307653.1:p.Pro231His

Select item 14814924393.

rs1481492439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:29007934 (GRCh38)
21:30380255 (GRCh37)
Canonical SPDI:: NC_000021.9:29007933:G:A
Gene:: RWDD2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.29007934G>A, NC_000021.8:g.30380255G>A, NW_025791813.1:g.98668G>A, NM_016940.3:c.552C>T, NM_016940.2:c.552C>T, NM_001320724.2:c.465C>T, NM_001320724.1:c.465C>T

Select item 14774786544.

rs1477478654 has merged into rs770677452 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAACACT>-,GAACACTGAACACT [Show Flanks]
Chromosome:: 21:29006531 (GRCh38)
21:30378852 (GRCh37)
Canonical SPDI:: NC_000021.9:29006524:AACACTGAACACT:AACACT,NC_000021.9:29006524:AACACTGAACACT:AACACTGAACACTGAACACT
Gene:: RWDD2B (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel,stop_gained,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACACT=0.00085/12 (ALFA)
-=0./0 (TWINSUK)
-=0.000259/1 (ALSPAC)
-=0.000274/69 (GnomAD_exomes)
-=0.00028/34 (ExAC)
-=0.000635/89 (GnomAD)
-=0.000816/216 (TOPMED)
-=0.003355/42 (GoESP)
HGVS:: NC_000021.9:g.29006531_29006537del, NC_000021.9:g.29006531_29006537dup, NC_000021.8:g.30378852_30378858del, NC_000021.8:g.30378852_30378858dup, NW_025791813.1:g.97265_97271del, NW_025791813.1:g.97265_97271dup, NM_016940.3:c.846_852del, NM_016940.3:c.846_852dup, NM_016940.2:c.846_852del, NM_016940.2:c.846_852dup, NM_001320724.2:c.759_765del, NM_001320724.2:c.759_765dup, NM_001320724.1:c.759_765del, NM_001320724.1:c.759_765dup, NP_058636.1:p.Phe282fs, NP_058636.1:p.Asn285delinsGlnCysTer, NP_001307653.1:p.Phe253fs, NP_001307653.1:p.Asn256delinsGlnCysTer

Select item 14724705225.

rs1472470522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:29007887 (GRCh38)
21:30380208 (GRCh37)
Canonical SPDI:: NC_000021.9:29007886:T:G
Gene:: RWDD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.29007887T>G, NC_000021.8:g.30380208T>G, NW_025791813.1:g.98621T>G, NM_016940.3:c.599A>C, NM_016940.2:c.599A>C, NM_001320724.2:c.512A>C, NM_001320724.1:c.512A>C, NP_058636.1:p.Lys200Thr, NP_001307653.1:p.Lys171Thr

Select item 14721171006.

rs1472117100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:29006457 (GRCh38)
21:30378778 (GRCh37)
Canonical SPDI:: NC_000021.9:29006456:C:T
Gene:: RWDD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.29006457C>T, NC_000021.8:g.30378778C>T, NW_025791813.1:g.97191C>T, NM_016940.3:c.920G>A, NM_016940.2:c.920G>A, NM_001320724.2:c.833G>A, NM_001320724.1:c.833G>A, NP_058636.1:p.Gly307Glu, NP_001307653.1:p.Gly278Glu

Select item 14705216467.

rs1470521646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:29008597 (GRCh38)
21:30380918 (GRCh37)
Canonical SPDI:: NC_000021.9:29008596:A:G
Gene:: RWDD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.29008597A>G, NC_000021.8:g.30380918A>G, NW_025791813.1:g.99331A>G, NM_016940.3:c.92T>C, NM_016940.2:c.92T>C, NM_001320724.2:c.5T>C, NM_001320724.1:c.5T>C, NP_058636.1:p.Ile31Thr, NP_001307653.1:p.Ile2Thr

Select item 14659763708.

rs1465976370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:29006498 (GRCh38)
21:30378819 (GRCh37)
Canonical SPDI:: NC_000021.9:29006497:G:A
Gene:: RWDD2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.29006498G>A, NC_000021.8:g.30378819G>A, NW_025791813.1:g.97232G>A, NM_016940.3:c.879C>T, NM_016940.2:c.879C>T, NM_001320724.2:c.792C>T, NM_001320724.1:c.792C>T

Select item 14640307309.

rs1464030730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:29019211 (GRCh38)
21:30391532 (GRCh37)
Canonical SPDI:: NC_000021.9:29019210:C:T
Gene:: RWDD2B (Varview), LOC124905005 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.29019211C>T, NC_000021.8:g.30391532C>T, NW_025791813.1:g.109945C>T, NM_016940.3:c.67G>A, NM_016940.2:c.67G>A, NM_001320724.2:c.-119G>A, NM_001320724.1:c.-119G>A, XR_007067836.1:n.961C>T, XR_007069583.1:n.961C>T, NP_058636.1:p.Glu23Lys

Select item 146284403410.

rs1462844034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:29008264 (GRCh38)
21:30380585 (GRCh37)
Canonical SPDI:: NC_000021.9:29008263:G:A
Gene:: RWDD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.29008264G>A, NC_000021.8:g.30380585G>A, NW_025791813.1:g.98998G>A, NM_016940.3:c.338C>T, NM_016940.2:c.338C>T, NM_001320724.2:c.251C>T, NM_001320724.1:c.251C>T, NP_058636.1:p.Ala113Val, NP_001307653.1:p.Ala84Val

Select item 145761000111.

rs1457610001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:29006451 (GRCh38)
21:30378772 (GRCh37)
Canonical SPDI:: NC_000021.9:29006450:A:G
Gene:: RWDD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.29006451A>G, NC_000021.8:g.30378772A>G, NW_025791813.1:g.97185A>G, NM_016940.3:c.926T>C, NM_016940.2:c.926T>C, NM_001320724.2:c.839T>C, NM_001320724.1:c.839T>C, NP_058636.1:p.Val309Ala, NP_001307653.1:p.Val280Ala

Select item 145748114112.

rs1457481141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:29006536 (GRCh38)
21:30378857 (GRCh37)
Canonical SPDI:: NC_000021.9:29006535:C:T
Gene:: RWDD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (ExAC)
T=0.000008/2 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.29006536C>T, NC_000021.8:g.30378857C>T, NW_025791813.1:g.97270C>T, NM_016940.3:c.841G>A, NM_016940.2:c.841G>A, NM_001320724.2:c.754G>A, NM_001320724.1:c.754G>A, NP_058636.1:p.Val281Met, NP_001307653.1:p.Val252Met

Select item 145628596813.

rs1456285968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:29007857 (GRCh38)
21:30380178 (GRCh37)
Canonical SPDI:: NC_000021.9:29007856:G:A,NC_000021.9:29007856:G:T
Gene:: RWDD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.29007857G>A, NC_000021.9:g.29007857G>T, NC_000021.8:g.30380178G>A, NC_000021.8:g.30380178G>T, NW_025791813.1:g.98591G>A, NW_025791813.1:g.98591G>T, NM_016940.3:c.629C>T, NM_016940.3:c.629C>A, NM_016940.2:c.629C>T, NM_016940.2:c.629C>A, NM_001320724.2:c.542C>T, NM_001320724.2:c.542C>A, NM_001320724.1:c.542C>T, NM_001320724.1:c.542C>A, NP_058636.1:p.Ala210Val, NP_058636.1:p.Ala210Glu, NP_001307653.1:p.Ala181Val, NP_001307653.1:p.Ala181Glu

Select item 145566114914.

rs1455661149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:29008520 (GRCh38)
21:30380841 (GRCh37)
Canonical SPDI:: NC_000021.9:29008519:T:C
Gene:: RWDD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.29008520T>C, NC_000021.8:g.30380841T>C, NW_025791813.1:g.99254T>C, NM_016940.3:c.169A>G, NM_016940.2:c.169A>G, NM_001320724.2:c.82A>G, NM_001320724.1:c.82A>G, NP_058636.1:p.Ile57Val, NP_001307653.1:p.Ile28Val

Select item 145084059215.

rs1450840592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:29008590 (GRCh38)
21:30380911 (GRCh37)
Canonical SPDI:: NC_000021.9:29008589:C:T
Gene:: RWDD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000021.9:g.29008590C>T, NC_000021.8:g.30380911C>T, NW_025791813.1:g.99324C>T, NM_016940.3:c.99G>A, NM_016940.2:c.99G>A, NM_001320724.2:c.12G>A, NM_001320724.1:c.12G>A, NP_058636.1:p.Met33Ile, NP_001307653.1:p.Met4Ile

Select item 145072362416.

rs1450723624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:29007770 (GRCh38)
21:30380091 (GRCh37)
Canonical SPDI:: NC_000021.9:29007769:A:T
Gene:: RWDD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.29007770A>T, NC_000021.8:g.30380091A>T, NW_025791813.1:g.98504A>T, NM_016940.3:c.716T>A, NM_016940.2:c.716T>A, NM_001320724.2:c.629T>A, NM_001320724.1:c.629T>A, NP_058636.1:p.Phe239Tyr, NP_001307653.1:p.Phe210Tyr

Select item 144979630217.

rs1449796302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:29008116 (GRCh38)
21:30380437 (GRCh37)
Canonical SPDI:: NC_000021.9:29008115:A:G
Gene:: RWDD2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.29008116A>G, NC_000021.8:g.30380437A>G, NW_025791813.1:g.98850A>G, NM_016940.3:c.370T>C, NM_016940.2:c.370T>C, NM_001320724.2:c.283T>C, NM_001320724.1:c.283T>C

Select item 144727403418.

rs1447274034 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:29008489 (GRCh38)
21:30380810 (GRCh37)
Canonical SPDI:: NC_000021.9:29008488:A:G
Gene:: RWDD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000021.9:g.29008489A>G, NC_000021.8:g.30380810A>G, NW_025791813.1:g.99223A>G, NM_016940.3:c.200T>C, NM_016940.2:c.200T>C, NM_001320724.2:c.113T>C, NM_001320724.1:c.113T>C, NP_058636.1:p.Leu67Pro, NP_001307653.1:p.Leu38Pro

Select item 144670994019.

rs1446709940 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:29008466 (GRCh38)
21:30380787 (GRCh37)
Canonical SPDI:: NC_000021.9:29008465:T:A
Gene:: RWDD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000021.9:g.29008466T>A, NC_000021.8:g.30380787T>A, NW_025791813.1:g.99200T>A, NM_016940.3:c.223A>T, NM_016940.2:c.223A>T, NM_001320724.2:c.136A>T, NM_001320724.1:c.136A>T, NP_058636.1:p.Thr75Ser, NP_001307653.1:p.Thr46Ser

Select item 144530544520.

rs1445305445 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:29008611 (GRCh38)
21:30380932 (GRCh37)
Canonical SPDI:: NC_000021.9:29008610:T:C
Gene:: RWDD2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.29008611T>C, NC_000021.8:g.30380932T>C, NW_025791813.1:g.99345T>C, NM_016940.3:c.78A>G, NM_016940.2:c.78A>G, NM_001320724.2:c.-10A>G, NM_001320724.1:c.-10A>G

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