USP19 - SNP

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Select item 115506201.

rs11550620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:49121244 (GRCh38)
3:49158677 (GRCh37)
Canonical SPDI:: NC_000003.12:49121243:G:A,NC_000003.12:49121243:G:C
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00022/11 (ALFA)
C=0.000089/7 (PAGE_STUDY)
C=0.000128/34 (TOPMED)
C=0.000154/2 (GoESP)
C=0.000192/27 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.49121244G>A, NC_000003.12:g.49121244G>C, NC_000003.11:g.49158677G>A, NC_000003.11:g.49158677G>C, NG_054716.1:g.4695C>T, NG_054716.1:g.4695C>G, NG_008094.1:g.16923C>T, NG_008094.1:g.16923C>G, NM_002292.4:c.5379C>T, NM_002292.4:c.5379C>G, NM_002292.3:c.5379C>T, NM_002292.3:c.5379C>G, XM_005265127.5:c.5379C>T, XM_005265127.5:c.5379C>G, XM_005265127.4:c.5379C>T, XM_005265127.4:c.5379C>G, XM_005265127.3:c.5379C>T, XM_005265127.3:c.5379C>G, XM_005265127.2:c.5379C>T, XM_005265127.2:c.5379C>G, XM_005265127.1:c.5379C>T, XM_005265127.1:c.5379C>G, NP_002283.3:p.Ile1793Met, XP_005265184.1:p.Ile1793Met

Select item 286124762.

rs28612476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:49121578 (GRCh38)
3:49159011 (GRCh37)
Canonical SPDI:: NC_000003.12:49121577:A:C,NC_000003.12:49121577:A:G
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.49121578A>C, NC_000003.12:g.49121578A>G, NC_000003.11:g.49159011A>C, NC_000003.11:g.49159011A>G, NG_054716.1:g.4361T>G, NG_054716.1:g.4361T>C, NG_008094.1:g.16589T>G, NG_008094.1:g.16589T>C, NM_002292.4:c.5115T>G, NM_002292.4:c.5115T>C, NM_002292.3:c.5115T>G, NM_002292.3:c.5115T>C, XM_005265127.5:c.5115T>G, XM_005265127.5:c.5115T>C, XM_005265127.4:c.5115T>G, XM_005265127.4:c.5115T>C, XM_005265127.3:c.5115T>G, XM_005265127.3:c.5115T>C, XM_005265127.2:c.5115T>G, XM_005265127.2:c.5115T>C, XM_005265127.1:c.5115T>G, XM_005265127.1:c.5115T>C

Select item 617294583.

rs61729458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49122170 (GRCh38)
3:49159603 (GRCh37)
Canonical SPDI:: NC_000003.12:49122169:G:A
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Clinical significance:: benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001271/271 (ALFA)
A=0.000035/1 (TOMMO)
A=0.003009/755 (GnomAD_exomes)
A=0.003827/462 (ExAC)
A=0.01273/1785 (GnomAD)
A=0.013117/66 (1000Genomes)
A=0.013514/3577 (TOPMED)
A=0.013889/3 (Qatari)
A=0.014224/185 (GoESP)
A=0.020444/1609 (PAGE_STUDY)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000003.12:g.49122170G>A, NC_000003.11:g.49159603G>A, NG_054716.1:g.3769C>T, NG_008094.1:g.15997C>T, NM_002292.4:c.4774C>T, NM_002292.3:c.4774C>T, XM_005265127.5:c.4774C>T, XM_005265127.4:c.4774C>T, XM_005265127.3:c.4774C>T, XM_005265127.2:c.4774C>T, XM_005265127.1:c.4774C>T, NP_002283.3:p.Arg1592Trp, XP_005265184.1:p.Arg1592Trp

Select item 729368854.

rs72936885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49121895 (GRCh38)
3:49159328 (GRCh37)
Canonical SPDI:: NC_000003.12:49121894:C:T
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.004389/124 (ALFA)
T=0.000035/1 (TOMMO)
T=0.001786/8 (Estonian)
T=0.002076/8 (ALSPAC)
T=0.002427/9 (TWINSUK)
T=0.003289/1 (FINRISK)
T=0.003333/2 (NorthernSweden)
T=0.003737/938 (GnomAD_exomes)
T=0.004008/4 (GoNL)
T=0.004491/545 (ExAC)
T=0.00463/1 (Qatari)
T=0.008384/1176 (GnomAD)
T=0.008451/2237 (TOPMED)
T=0.008765/114 (GoESP)
T=0.012492/63 (1000Genomes)
C=0.5/1 (Siberian)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000003.12:g.49121895C>T, NC_000003.11:g.49159328C>T, NG_054716.1:g.4044G>A, NG_008094.1:g.16272G>A

PubMed

Select item 749513565.

rs74951356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:49121330 (GRCh38)
3:49158763 (GRCh37)
Canonical SPDI:: NC_000003.12:49121329:C:G,NC_000003.12:49121329:C:T
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.027721/6409 (ALFA)
T=0.009868/3 (FINRISK)
T=0.010241/806 (PAGE_STUDY)
T=0.011607/52 (Estonian)
T=0.012336/62 (1000Genomes)
T=0.019105/5057 (TOPMED)
T=0.019401/2721 (GnomAD)
T=0.020695/5204 (GnomAD_exomes)
T=0.021221/276 (GoESP)
T=0.02161/2623 (ExAC)
T=0.025/1 (GENOME_DK)
T=0.02809/15 (MGP)
T=0.030099/116 (ALSPAC)
T=0.032407/7 (Qatari)
T=0.03507/35 (GoNL)
T=0.037487/139 (TWINSUK)
T=0.048333/29 (NorthernSweden)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000003.12:g.49121330C>G, NC_000003.12:g.49121330C>T, NC_000003.11:g.49158763C>G, NC_000003.11:g.49158763C>T, NG_054716.1:g.4609G>C, NG_054716.1:g.4609G>A, NG_008094.1:g.16837G>C, NG_008094.1:g.16837G>A, NM_002292.4:c.5293G>C, NM_002292.4:c.5293G>A, NM_002292.3:c.5293G>C, NM_002292.3:c.5293G>A, XM_005265127.5:c.5293G>C, XM_005265127.5:c.5293G>A, XM_005265127.4:c.5293G>C, XM_005265127.4:c.5293G>A, XM_005265127.3:c.5293G>C, XM_005265127.3:c.5293G>A, XM_005265127.2:c.5293G>C, XM_005265127.2:c.5293G>A, XM_005265127.1:c.5293G>C, XM_005265127.1:c.5293G>A, NP_002283.3:p.Ala1765Pro, NP_002283.3:p.Ala1765Thr, XP_005265184.1:p.Ala1765Pro, XP_005265184.1:p.Ala1765Thr

PubMed LitVar

Select item 1144852846.

rs114485284 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49121527 (GRCh38)
3:49158960 (GRCh37)
Canonical SPDI:: NC_000003.12:49121526:T:C
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000603/27 (ALFA)
C=0.000426/107 (GnomAD_exomes)
C=0.000553/67 (ExAC)
C=0.001725/242 (GnomAD)
C=0.001889/500 (TOPMED)
C=0.002076/27 (GoESP)
C=0.002655/13 (1000Genomes)
C=0.00463/1 (Qatari)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000003.12:g.49121527T>C, NC_000003.11:g.49158960T>C, NG_054716.1:g.4412A>G, NG_008094.1:g.16640A>G, NM_002292.4:c.5166A>G, NM_002292.3:c.5166A>G, XM_005265127.5:c.5166A>G, XM_005265127.4:c.5166A>G, XM_005265127.3:c.5166A>G, XM_005265127.2:c.5166A>G, XM_005265127.1:c.5166A>G

Select item 1145701567.

rs114570156 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49114756 (GRCh38)
3:49152189 (GRCh37)
Canonical SPDI:: NC_000003.12:49114755:A:G
Gene:: USP19 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00797/395 (ALFA)
G=0.001786/8 (Estonian)
G=0.004008/4 (GoNL)
G=0.00463/1 (Qatari)
G=0.005/3 (NorthernSweden)
G=0.006302/1572 (GnomAD_exomes)
G=0.00648/780 (ExAC)
G=0.006579/2 (FINRISK)
G=0.006742/25 (TWINSUK)
G=0.007006/27 (ALSPAC)
G=0.012024/60 (1000Genomes)
G=0.012446/157 (GoESP)
G=0.0129/1809 (GnomAD)
G=0.013109/7 (MGP)
G=0.013869/3671 (TOPMED)
G=0.021739/2 (PRJEB36033)
A=0.5/7 (SGDP_PRJ)
HGVS:: NC_000003.12:g.49114756A>G, NC_000003.11:g.49152189A>G, NG_054716.1:g.11183T>C

Select item 1158382118.

rs115838211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49121399 (GRCh38)
3:49158832 (GRCh37)
Canonical SPDI:: NC_000003.12:49121398:C:T
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00232/55 (ALFA)
T=0.00113/284 (GnomAD_exomes)
T=0.001302/158 (ExAC)
T=0.002498/13 (1000Genomes)
T=0.003229/42 (GoESP)
T=0.003672/972 (TOPMED)
T=0.003716/521 (GnomAD)
HGVS:: NC_000003.12:g.49121399C>T, NC_000003.11:g.49158832C>T, NG_054716.1:g.4540G>A, NG_008094.1:g.16768G>A

Select item 1168366079.

rs116836607 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49121927 (GRCh38)
3:49159360 (GRCh37)
Canonical SPDI:: NC_000003.12:49121926:T:C
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.017804/503 (ALFA)
C=0.008588/43 (1000Genomes)
C=0.009821/44 (Estonian)
C=0.009868/3 (FINRISK)
C=0.015399/4076 (TOPMED)
C=0.0158/2215 (GnomAD)
C=0.016403/4121 (GnomAD_exomes)
C=0.016608/216 (GoESP)
C=0.017261/2095 (ExAC)
C=0.022472/12 (MGP)
C=0.023148/5 (Qatari)
C=0.02465/95 (ALSPAC)
C=0.025/1 (GENOME_DK)
C=0.029666/110 (TWINSUK)
C=0.033066/33 (GoNL)
C=0.046667/28 (NorthernSweden)
HGVS:: NC_000003.12:g.49121927T>C, NC_000003.11:g.49159360T>C, NG_054716.1:g.4012A>G, NG_008094.1:g.16240A>G

Select item 13881649110.

rs138816491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:49121764 (GRCh38)
3:49159197 (GRCh37)
Canonical SPDI:: NC_000003.12:49121763:G:A,NC_000003.12:49121763:G:C,NC_000003.12:49121763:G:T
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/1 (ExAC)
A=0.000024/6 (GnomAD_exomes)
A=0.000036/5 (GnomAD)
A=0.000068/18 (TOPMED)
A=0.000077/1 (GoESP)
HGVS:: NC_000003.12:g.49121764G>A, NC_000003.12:g.49121764G>C, NC_000003.12:g.49121764G>T, NC_000003.11:g.49159197G>A, NC_000003.11:g.49159197G>C, NC_000003.11:g.49159197G>T, NG_054716.1:g.4175C>T, NG_054716.1:g.4175C>G, NG_054716.1:g.4175C>A, NG_008094.1:g.16403C>T, NG_008094.1:g.16403C>G, NG_008094.1:g.16403C>A, NM_002292.4:c.5020C>T, NM_002292.4:c.5020C>G, NM_002292.4:c.5020C>A, NM_002292.3:c.5020C>T, NM_002292.3:c.5020C>G, NM_002292.3:c.5020C>A, XM_005265127.5:c.5020C>T, XM_005265127.5:c.5020C>G, XM_005265127.5:c.5020C>A, XM_005265127.4:c.5020C>T, XM_005265127.4:c.5020C>G, XM_005265127.4:c.5020C>A, XM_005265127.3:c.5020C>T, XM_005265127.3:c.5020C>G, XM_005265127.3:c.5020C>A, XM_005265127.2:c.5020C>T, XM_005265127.2:c.5020C>G, XM_005265127.2:c.5020C>A, XM_005265127.1:c.5020C>T, XM_005265127.1:c.5020C>G, XM_005265127.1:c.5020C>A, NP_002283.3:p.Arg1674Trp, NP_002283.3:p.Arg1674Gly, XP_005265184.1:p.Arg1674Trp, XP_005265184.1:p.Arg1674Gly

Select item 13915681511.

rs139156815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49121480 (GRCh38)
3:49158913 (GRCh37)
Canonical SPDI:: NC_000003.12:49121479:G:A
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000059/9 (ALFA)
A=0.00006/15 (GnomAD_exomes)
A=0.000074/9 (ExAC)
A=0.000121/17 (GnomAD)
A=0.000154/2 (GoESP)
A=0.000156/1 (1000Genomes)
A=0.000276/73 (TOPMED)
HGVS:: NC_000003.12:g.49121480G>A, NC_000003.11:g.49158913G>A, NG_054716.1:g.4459C>T, NG_008094.1:g.16687C>T, NM_002292.4:c.5213C>T, NM_002292.3:c.5213C>T, XM_005265127.5:c.5213C>T, XM_005265127.4:c.5213C>T, XM_005265127.3:c.5213C>T, XM_005265127.2:c.5213C>T, XM_005265127.1:c.5213C>T, NP_002283.3:p.Ala1738Val, XP_005265184.1:p.Ala1738Val

Select item 13951126412.

rs139511264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49121551 (GRCh38)
3:49158984 (GRCh37)
Canonical SPDI:: NC_000003.12:49121550:C:T
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Clinical significance:: uncertain-significance,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000365/18 (ALFA)
T=0./0 (TWINSUK)
T=0.000207/25 (ExAC)
T=0.000211/53 (GnomAD_exomes)
T=0.000223/1 (Estonian)
T=0.000253/67 (TOPMED)
T=0.000271/38 (GnomAD)
T=0.000384/5 (GoESP)
T=0.000625/3 (1000Genomes)
T=0.000778/3 (ALSPAC)
HGVS:: NC_000003.12:g.49121551C>T, NC_000003.11:g.49158984C>T, NG_054716.1:g.4388G>A, NG_008094.1:g.16616G>A, NM_002292.4:c.5142G>A, NM_002292.3:c.5142G>A, XM_005265127.5:c.5142G>A, XM_005265127.4:c.5142G>A, XM_005265127.3:c.5142G>A, XM_005265127.2:c.5142G>A, XM_005265127.1:c.5142G>A

Select item 14147369113.

rs141473691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:49121745 (GRCh38)
3:49159178 (GRCh37)
Canonical SPDI:: NC_000003.12:49121744:G:A,NC_000003.12:49121744:G:T
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000633/123 (ALFA)
A=0.00014/11 (PAGE_STUDY)
A=0.000231/3 (GoESP)
A=0.000328/46 (GnomAD)
A=0.000466/117 (GnomAD_exomes)
A=0.000487/59 (ExAC)
HGVS:: NC_000003.12:g.49121745G>A, NC_000003.12:g.49121745G>T, NC_000003.11:g.49159178G>A, NC_000003.11:g.49159178G>T, NG_054716.1:g.4194C>T, NG_054716.1:g.4194C>A, NG_008094.1:g.16422C>T, NG_008094.1:g.16422C>A, NM_002292.4:c.5039C>T, NM_002292.4:c.5039C>A, NM_002292.3:c.5039C>T, NM_002292.3:c.5039C>A, XM_005265127.5:c.5039C>T, XM_005265127.5:c.5039C>A, XM_005265127.4:c.5039C>T, XM_005265127.4:c.5039C>A, XM_005265127.3:c.5039C>T, XM_005265127.3:c.5039C>A, XM_005265127.2:c.5039C>T, XM_005265127.2:c.5039C>A, XM_005265127.1:c.5039C>T, XM_005265127.1:c.5039C>A, NP_002283.3:p.Ala1680Val, NP_002283.3:p.Ala1680Glu, XP_005265184.1:p.Ala1680Val, XP_005265184.1:p.Ala1680Glu

Select item 14204138114.

rs142041381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49121460 (GRCh38)
3:49158893 (GRCh37)
Canonical SPDI:: NC_000003.12:49121459:C:T
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000422/84 (ALFA)
T=0.000102/8 (PAGE_STUDY)
T=0.000178/47 (TOPMED)
T=0.000207/29 (GnomAD)
T=0.000223/1 (Estonian)
T=0.000239/29 (ExAC)
T=0.00027/68 (GnomAD_exomes)
T=0.000384/5 (GoESP)
T=0.000778/3 (ALSPAC)
T=0.001079/4 (TWINSUK)
HGVS:: NC_000003.12:g.49121460C>T, NC_000003.11:g.49158893C>T, NG_054716.1:g.4479G>A, NG_008094.1:g.16707G>A, NM_002292.4:c.5233G>A, NM_002292.3:c.5233G>A, XM_005265127.5:c.5233G>A, XM_005265127.4:c.5233G>A, XM_005265127.3:c.5233G>A, XM_005265127.2:c.5233G>A, XM_005265127.1:c.5233G>A, NP_002283.3:p.Ala1745Thr, XP_005265184.1:p.Ala1745Thr

Select item 14289668315.

rs142896683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:49121832 (GRCh38)
3:49159265 (GRCh37)
Canonical SPDI:: NC_000003.12:49121831:C:A,NC_000003.12:49121831:C:T
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000211/41 (ALFA)
T=0.000013/1 (PAGE_STUDY)
T=0.000102/27 (TOPMED)
T=0.000154/2 (GoESP)
T=0.000315/79 (GnomAD_exomes)
T=0.000569/69 (ExAC)
T=0.002232/10 (Estonian)
T=0.003333/2 (NorthernSweden)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000003.12:g.49121832C>A, NC_000003.12:g.49121832C>T, NC_000003.11:g.49159265C>A, NC_000003.11:g.49159265C>T, NG_054716.1:g.4107G>T, NG_054716.1:g.4107G>A, NG_008094.1:g.16335G>T, NG_008094.1:g.16335G>A, NM_002292.4:c.4952G>T, NM_002292.4:c.4952G>A, NM_002292.3:c.4952G>T, NM_002292.3:c.4952G>A, XM_005265127.5:c.4952G>T, XM_005265127.5:c.4952G>A, XM_005265127.4:c.4952G>T, XM_005265127.4:c.4952G>A, XM_005265127.3:c.4952G>T, XM_005265127.3:c.4952G>A, XM_005265127.2:c.4952G>T, XM_005265127.2:c.4952G>A, XM_005265127.1:c.4952G>T, XM_005265127.1:c.4952G>A, NP_002283.3:p.Arg1651Leu, NP_002283.3:p.Arg1651Gln, XP_005265184.1:p.Arg1651Leu, XP_005265184.1:p.Arg1651Gln

Select item 14372335216.

rs143723352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49121786 (GRCh38)
3:49159219 (GRCh37)
Canonical SPDI:: NC_000003.12:49121785:G:A
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000016/2 (ExAC)
A=0.000029/4 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000077/1 (GoESP)
HGVS:: NC_000003.12:g.49121786G>A, NC_000003.11:g.49159219G>A, NG_054716.1:g.4153C>T, NG_008094.1:g.16381C>T, NM_002292.4:c.4998C>T, NM_002292.3:c.4998C>T, XM_005265127.5:c.4998C>T, XM_005265127.4:c.4998C>T, XM_005265127.3:c.4998C>T, XM_005265127.2:c.4998C>T, XM_005265127.1:c.4998C>T

Select item 14491464017.

rs144914640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49116057 (GRCh38)
3:49153490 (GRCh37)
Canonical SPDI:: NC_000003.12:49116056:C:T
Gene:: USP19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002752/124 (ALFA)
T=0.001823/424 (GnomAD_exomes)
T=0.002196/261 (ExAC)
T=0.00463/1 (Qatari)
T=0.008227/1154 (GnomAD)
T=0.008253/104 (GoESP)
T=0.008588/43 (1000Genomes)
T=0.008958/2371 (TOPMED)
C=0.5/5 (SGDP_PRJ)
HGVS:: NC_000003.12:g.49116057C>T, NC_000003.11:g.49153490C>T, NG_054716.1:g.9882G>A, NM_006677.3:c.1158G>A, NM_006677.2:c.1158G>A, NM_001351100.2:c.1458G>A, NM_001351100.1:c.1458G>A, NM_001199160.2:c.1461G>A, NM_001199160.1:c.1461G>A, NM_001351101.2:c.1467G>A, NM_001351101.1:c.1467G>A, NM_001199161.2:c.1461G>A, NM_001199161.1:c.1461G>A, NM_001351099.2:c.1458G>A, NM_001351099.1:c.1458G>A, NM_001199162.2:c.1431G>A, NM_001199162.1:c.1431G>A, NM_001351098.2:c.1422G>A, NM_001351098.1:c.1422G>A, NM_001351107.2:c.1416G>A, NM_001351107.1:c.1416G>A, NM_001351105.2:c.1311G>A, NM_001351105.1:c.1311G>A, NM_001351104.2:c.1164G>A, NM_001351104.1:c.1164G>A, NM_001351106.2:c.1158G>A, NM_001351106.1:c.1158G>A, NM_001351103.2:c.1164G>A, NM_001351103.1:c.1164G>A, NM_001351108.2:c.1119G>A, NM_001351108.1:c.1119G>A, NM_001351102.2:c.1113G>A, NM_001351102.1:c.1113G>A, NM_001400288.1:c.1461G>A, NM_001400292.1:c.1461G>A, NM_001400293.1:c.1461G>A, NM_001400297.1:c.1416G>A, NM_001389595.1:c.1467G>A, NM_001389594.1:c.1461G>A, NM_001389602.1:c.1458G>A, NM_001389596.1:c.1467G>A, NM_001400290.1:c.1464G>A, NM_001389604.1:c.1458G>A, NM_001389598.1:c.1461G>A, NM_001389603.1:c.1416G>A, NM_001400294.1:c.1461G>A, NM_001389601.1:c.1416G>A, NM_001400295.1:c.1419G>A, NM_001400296.1:c.1422G>A, NM_001389599.1:c.1413G>A, NM_001389600.1:c.1416G>A, NM_001400298.1:c.1413G>A, NM_001400299.1:c.1386G>A, NM_001389605.1:c.1311G>A, NM_001389597.1:c.1164G>A, NM_001389606.1:c.1158G>A, NM_001389608.1:c.1158G>A, NM_001389607.1:c.1113G>A, XM_005264823.4:c.1467G>A, XM_005264823.3:c.1467G>A, XM_005264823.2:c.1467G>A, XM_005264823.1:c.1467G>A, XM_006712946.4:c.1464G>A, XM_006712946.3:c.1464G>A, XM_006712946.2:c.1464G>A, XM_006712946.1:c.1464G>A, XM_005264824.3:c.1467G>A, XM_005264824.2:c.1467G>A, XM_005264824.1:c.1467G>A, XM_005264827.3:c.1422G>A, XM_005264827.2:c.1422G>A, XM_005264827.1:c.1422G>A, XM_006712947.3:c.1413G>A, XM_006712947.2:c.1413G>A, XM_006712947.1:c.1413G>A, XM_017005627.2:c.1119G>A, XM_017005627.1:c.1119G>A, XM_047447341.1:c.1464G>A, XM_047447346.1:c.1464G>A, XM_047447342.1:c.1419G>A, XM_047447343.1:c.1422G>A, XM_047447344.1:c.1419G>A, XM_047447345.1:c.1413G>A, XM_047447347.1:c.1419G>A, XM_047447349.1:c.1266G>A, XM_047447348.1:c.1164G>A, XM_047447350.1:c.1119G>A, XM_047447351.1:c.1113G>A, XM_047447352.1:c.1119G>A, XM_047447353.1:c.1113G>A

Select item 14493818318.

rs144938183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49121979 (GRCh38)
3:49159412 (GRCh37)
Canonical SPDI:: NC_000003.12:49121978:C:T
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (ExAC)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000077/1 (GoESP)
HGVS:: NC_000003.12:g.49121979C>T, NC_000003.11:g.49159412C>T, NG_054716.1:g.3960G>A, NG_008094.1:g.16188G>A, NM_002292.4:c.4888G>A, NM_002292.3:c.4888G>A, XM_005265127.5:c.4888G>A, XM_005265127.4:c.4888G>A, XM_005265127.3:c.4888G>A, XM_005265127.2:c.4888G>A, XM_005265127.1:c.4888G>A, NP_002283.3:p.Ala1630Thr, XP_005265184.1:p.Ala1630Thr

Select item 14806940119.

rs148069401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49122718 (GRCh38)
3:49160151 (GRCh37)
Canonical SPDI:: NC_000003.12:49122717:T:C
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000181/36 (ALFA)
C=0./0 (TWINSUK)
C=0.000091/11 (ExAC)
C=0.00011/29 (TOPMED)
C=0.000127/32 (GnomAD_exomes)
C=0.000128/18 (GnomAD)
C=0.000223/1 (Estonian)
C=0.000231/3 (GoESP)
C=0.000259/1 (ALSPAC)
C=0.002004/2 (GoNL)
HGVS:: NC_000003.12:g.49122718T>C, NC_000003.11:g.49160151T>C, NG_054716.1:g.3221A>G, NG_008094.1:g.15449A>G, NM_002292.4:c.4559A>G, NM_002292.3:c.4559A>G, XM_005265127.5:c.4559A>G, XM_005265127.4:c.4559A>G, XM_005265127.3:c.4559A>G, XM_005265127.2:c.4559A>G, XM_005265127.1:c.4559A>G, NP_002283.3:p.Lys1520Arg, XP_005265184.1:p.Lys1520Arg

Select item 14864848020.

rs148648480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49121989 (GRCh38)
3:49159422 (GRCh37)
Canonical SPDI:: NC_000003.12:49121988:C:T
Gene:: LAMB2 (Varview), USP19 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign,benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000071/1 (TOMMO)
T=0.000154/2 (GoESP)
T=0.000157/22 (GnomAD)
T=0.000196/52 (TOPMED)
T=0.000255/31 (ExAC)
T=0.000298/75 (GnomAD_exomes)
T=0.000468/2 (1000Genomes)
HGVS:: NC_000003.12:g.49121989C>T, NC_000003.11:g.49159422C>T, NG_054716.1:g.3950G>A, NG_008094.1:g.16178G>A, NM_002292.4:c.4878G>A, NM_002292.3:c.4878G>A, XM_005265127.5:c.4878G>A, XM_005265127.4:c.4878G>A, XM_005265127.3:c.4878G>A, XM_005265127.2:c.4878G>A, XM_005265127.1:c.4878G>A

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