"human"[ORGN] and SUZ12 - SNP

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Select item 558325081.

rs55832508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:31995639 (GRCh38)
17:30322658 (GRCh37)
Canonical SPDI:: NC_000017.11:31995638:T:C
Gene:: SUZ12 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00159/89 (ALFA)
C=0.001933/486 (GnomAD_exomes)
C=0.002521/306 (ExAC)
C=0.007994/2116 (TOPMED)
C=0.00818/1146 (GnomAD)
C=0.008901/45 (1000Genomes)
C=0.00915/119 (GoESP)
C=0.009259/2 (Qatari)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.31995639T>C, NC_000017.10:g.30322658T>C, NG_009237.1:g.63615T>C, NM_015355.4:c.1671T>C, NM_015355.3:c.1671T>C, NM_015355.2:c.1671T>C, NM_001321207.2:c.1602T>C, NM_001321207.1:c.1602T>C, XM_006721794.4:c.1263T>C, XM_006721794.3:c.1263T>C, XM_006721794.2:c.1263T>C, XM_006721794.1:c.1263T>C, XM_047435704.1:c.1320T>C, XM_047435705.1:c.942T>C, XM_047435706.1:c.777T>C

Select item 771436452.

rs77143645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:31993306 (GRCh38)
17:30320325 (GRCh37)
Canonical SPDI:: NC_000017.11:31993305:C:T
Gene:: SUZ12 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001597/72 (ALFA)
T=0.001251/283 (GnomAD_exomes)
T=0.001572/175 (ExAC)
T=0.004177/54 (GoESP)
T=0.00463/1 (Qatari)
T=0.005673/795 (GnomAD)
T=0.006158/1630 (TOPMED)
T=0.006715/34 (1000Genomes)
HGVS:: NC_000017.11:g.31993306C>T, NC_000017.10:g.30320325C>T, NG_009237.1:g.61282C>T, NM_015355.4:c.1266C>T, NM_015355.3:c.1266C>T, NM_015355.2:c.1266C>T, NM_001321207.2:c.1197C>T, NM_001321207.1:c.1197C>T, XM_006721794.4:c.858C>T, XM_006721794.3:c.858C>T, XM_006721794.2:c.858C>T, XM_006721794.1:c.858C>T, XM_047435704.1:c.915C>T, XM_047435705.1:c.537C>T, XM_047435706.1:c.372C>T

Select item 1132318853.

rs113231885 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:31994611 (GRCh38)
17:30321630 (GRCh37)
Canonical SPDI:: NC_000017.11:31994610:T:C
Gene:: SUZ12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000254/9 (ALFA)
C=0.000199/24 (ExAC)
C=0.000239/60 (GnomAD_exomes)
C=0.000468/2 (1000Genomes)
C=0.000538/7 (GoESP)
C=0.000578/81 (GnomAD)
C=0.000676/179 (TOPMED)
C=0.00463/1 (Qatari)
HGVS:: NC_000017.11:g.31994611T>C, NC_000017.10:g.30321630T>C, NG_009237.1:g.62587T>C, NM_015355.4:c.1485T>C, NM_015355.3:c.1485T>C, NM_015355.2:c.1485T>C, NM_001321207.2:c.1416T>C, NM_001321207.1:c.1416T>C, XM_006721794.4:c.1077T>C, XM_006721794.3:c.1077T>C, XM_006721794.2:c.1077T>C, XM_006721794.1:c.1077T>C, XM_047435704.1:c.1134T>C, XM_047435705.1:c.756T>C, XM_047435706.1:c.591T>C

Select item 1385845674.

rs138584567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:31993897 (GRCh38)
17:30320916 (GRCh37)
Canonical SPDI:: NC_000017.11:31993896:T:G
Gene:: SUZ12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000282/10 (ALFA)
G=0.00006/15 (GnomAD_exomes)
G=0.000066/8 (ExAC)
G=0.000357/50 (GnomAD)
G=0.000384/5 (GoESP)
G=0.000434/115 (TOPMED)
G=0.000625/3 (1000Genomes)
HGVS:: NC_000017.11:g.31993897T>G, NC_000017.10:g.30320916T>G, NG_009237.1:g.61873T>G, NM_015355.4:c.1326T>G, NM_015355.3:c.1326T>G, NM_015355.2:c.1326T>G, NM_001321207.2:c.1257T>G, NM_001321207.1:c.1257T>G, XM_006721794.4:c.918T>G, XM_006721794.3:c.918T>G, XM_006721794.2:c.918T>G, XM_006721794.1:c.918T>G, XM_047435704.1:c.975T>G, XM_047435705.1:c.597T>G, XM_047435706.1:c.432T>G

Select item 1408722585.

rs140872258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:31993273 (GRCh38)
17:30320292 (GRCh37)
Canonical SPDI:: NC_000017.11:31993272:A:C,NC_000017.11:31993272:A:G
Gene:: SUZ12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/9 (ALFA)
C=0.000156/1 (1000Genomes)
C=0.000383/43 (ExAC)
C=0.001305/183 (GnomAD)
C=0.001469/19 (GoESP)
C=0.001588/125 (PAGE_STUDY)
HGVS:: NC_000017.11:g.31993273A>C, NC_000017.11:g.31993273A>G, NC_000017.10:g.30320292A>C, NC_000017.10:g.30320292A>G, NG_009237.1:g.61249A>C, NG_009237.1:g.61249A>G, NM_015355.4:c.1233A>C, NM_015355.4:c.1233A>G, NM_015355.3:c.1233A>C, NM_015355.3:c.1233A>G, NM_015355.2:c.1233A>C, NM_015355.2:c.1233A>G, NM_001321207.2:c.1164A>C, NM_001321207.2:c.1164A>G, NM_001321207.1:c.1164A>C, NM_001321207.1:c.1164A>G, XM_006721794.4:c.825A>C, XM_006721794.4:c.825A>G, XM_006721794.3:c.825A>C, XM_006721794.3:c.825A>G, XM_006721794.2:c.825A>C, XM_006721794.2:c.825A>G, XM_006721794.1:c.825A>C, XM_006721794.1:c.825A>G, XM_047435704.1:c.882A>C, XM_047435704.1:c.882A>G, XM_047435705.1:c.504A>C, XM_047435705.1:c.504A>G, XM_047435706.1:c.339A>C, XM_047435706.1:c.339A>G, XM_047435707.1:c.*14A>C, XM_047435707.1:c.*14A>G, NP_056170.2:p.Gln411His, NP_001308136.1:p.Gln388His, XP_006721857.1:p.Gln275His, XP_047291660.1:p.Gln294His, XP_047291661.1:p.Gln168His, XP_047291662.1:p.Gln113His

Select item 1482961256.

rs148296125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:31993981 (GRCh38)
17:30321000 (GRCh37)
Canonical SPDI:: NC_000017.11:31993980:C:T
Gene:: SUZ12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000304/7 (ALFA)
T=0.000101/25 (GnomAD_exomes)
T=0.000116/14 (ExAC)
T=0.000283/75 (TOPMED)
T=0.000357/50 (GnomAD)
T=0.000461/6 (GoESP)
T=0.000468/2 (1000Genomes)
HGVS:: NC_000017.11:g.31993981C>T, NC_000017.10:g.30321000C>T, NG_009237.1:g.61957C>T, NM_015355.4:c.1410C>T, NM_015355.3:c.1410C>T, NM_015355.2:c.1410C>T, NM_001321207.2:c.1341C>T, NM_001321207.1:c.1341C>T, XM_006721794.4:c.1002C>T, XM_006721794.3:c.1002C>T, XM_006721794.2:c.1002C>T, XM_006721794.1:c.1002C>T, XM_047435704.1:c.1059C>T, XM_047435705.1:c.681C>T, XM_047435706.1:c.516C>T

Select item 1498339137.

rs149833913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31937457 (GRCh38)
17:30264476 (GRCh37)
Canonical SPDI:: NC_000017.11:31937456:G:A
Gene:: SUZ12 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.004756/253 (ALFA)
A=0.001667/1 (NorthernSweden)
A=0.002811/14 (1000Genomes)
A=0.003551/940 (TOPMED)
A=0.004678/679 (GnomAD_exomes)
A=0.004756/667 (GnomAD)
A=0.004759/78 (ExAC)
A=0.005618/3 (MGP)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.31937457G>A, NC_000017.10:g.30264476G>A, NG_009237.1:g.5433G>A, NM_015355.4:c.211G>A, NM_015355.3:c.211G>A, NM_015355.2:c.211G>A, NM_001321207.2:c.211G>A, NM_001321207.1:c.211G>A, XM_006721794.4:c.-86G>A, XM_006721794.3:c.-86G>A, XM_006721794.2:c.-86G>A, XM_047435704.1:c.-173G>A, XM_047435707.1:c.211G>A, NP_056170.2:p.Val71Met, NP_001308136.1:p.Val71Met, XP_047291663.1:p.Val71Met

LitVar

Select item 2014538478.

rs201453847 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:31937528 (GRCh38)
17:30264547 (GRCh37)
Canonical SPDI:: NC_000017.11:31937527:T:C
Gene:: SUZ12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.014258/361 (ALFA)
C=0.000546/1 (Korea1K)
C=0.000685/2 (KOREAN)
C=0.002442/41 (TOMMO)
C=0.00463/1 (Qatari)
C=0.008357/136 (ExAC)
C=0.011868/76 (1000Genomes)
C=0.01436/2011 (GnomAD)
C=0.016177/4282 (TOPMED)
T=0.46875/15 (SGDP_PRJ)
HGVS:: NC_000017.11:g.31937528T>C, NC_000017.10:g.30264547T>C, NG_009237.1:g.5504T>C

Select item 5485276429.

rs548527642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:31937438 (GRCh38)
17:30264457 (GRCh37)
Canonical SPDI:: NC_000017.11:31937437:G:A,NC_000017.11:31937437:G:T
Gene:: SUZ12 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000141/6 (ALFA)
T=0.000091/13 (GnomAD_exomes)
T=0.000315/5 (ExAC)
T=0.000535/75 (GnomAD)
T=0.000625/3 (1000Genomes)
HGVS:: NC_000017.11:g.31937438G>A, NC_000017.11:g.31937438G>T, NC_000017.10:g.30264457G>A, NC_000017.10:g.30264457G>T, NG_009237.1:g.5414G>A, NG_009237.1:g.5414G>T, NM_015355.4:c.192G>A, NM_015355.4:c.192G>T, NM_015355.3:c.192G>A, NM_015355.3:c.192G>T, NM_015355.2:c.192G>A, NM_015355.2:c.192G>T, NM_001321207.2:c.192G>A, NM_001321207.2:c.192G>T, NM_001321207.1:c.192G>A, NM_001321207.1:c.192G>T, XM_006721794.4:c.-105G>A, XM_006721794.4:c.-105G>T, XM_006721794.2:c.-105G>A, XM_006721794.2:c.-105G>T, XM_047435704.1:c.-192G>A, XM_047435704.1:c.-192G>T, XM_047435707.1:c.192G>A, XM_047435707.1:c.192G>T

Select item 57301571810.

rs573015718 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:31939214 (GRCh38)
17:30266233 (GRCh37)
Canonical SPDI:: NC_000017.11:31939213:T:
Gene:: SUZ12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000704/13 (ALFA)
-=0.001219/171 (GnomAD)
-=0.001647/436 (TOPMED)
-=0.002342/12 (1000Genomes)
HGVS:: NC_000017.11:g.31939214del, NC_000017.10:g.30266233del, NG_009237.1:g.7190del

Select item 75038306611.

rs750383066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:31940461 (GRCh38)
17:30267480 (GRCh37)
Canonical SPDI:: NC_000017.11:31940460:C:A,NC_000017.11:31940460:C:G,NC_000017.11:31940460:C:T
Gene:: SUZ12 (Varview)
Functional Consequence:: stop_gained,genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,missense_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000019/1 (ExAC)
HGVS:: NC_000017.11:g.31940461C>A, NC_000017.11:g.31940461C>G, NC_000017.11:g.31940461C>T, NC_000017.10:g.30267480C>A, NC_000017.10:g.30267480C>G, NC_000017.10:g.30267480C>T, NG_009237.1:g.8437C>A, NG_009237.1:g.8437C>G, NG_009237.1:g.8437C>T, NM_015355.4:c.361C>A, NM_015355.4:c.361C>G, NM_015355.4:c.361C>T, NM_015355.3:c.361C>A, NM_015355.3:c.361C>G, NM_015355.3:c.361C>T, NM_015355.2:c.361C>A, NM_015355.2:c.361C>G, NM_015355.2:c.361C>T, NM_001321207.2:c.361C>A, NM_001321207.2:c.361C>G, NM_001321207.2:c.361C>T, NM_001321207.1:c.361C>A, NM_001321207.1:c.361C>G, NM_001321207.1:c.361C>T, XM_047435704.1:c.10C>A, XM_047435704.1:c.10C>G, XM_047435704.1:c.10C>T, XM_047435707.1:c.361C>A, XM_047435707.1:c.361C>G, XM_047435707.1:c.361C>T, NP_056170.2:p.Arg121Gly, NP_056170.2:p.Arg121Ter, NP_001308136.1:p.Arg121Gly, NP_001308136.1:p.Arg121Ter, XP_047291660.1:p.Arg4Gly, XP_047291660.1:p.Arg4Ter, XP_047291663.1:p.Arg121Gly, XP_047291663.1:p.Arg121Ter

Select item 75238119012.

rs752381190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31988406 (GRCh38)
17:30315425 (GRCh37)
Canonical SPDI:: NC_000017.11:31988405:G:A
Gene:: SUZ12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
A=0.000008/1 (ExAC)
A=0.000008/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
A=0.000036/5 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.31988406G>A, NC_000017.10:g.30315425G>A, NG_009237.1:g.56382G>A, NM_015355.4:c.1110G>A, NM_015355.3:c.1110G>A, NM_015355.2:c.1110G>A, NM_001321207.2:c.1041G>A, NM_001321207.1:c.1041G>A, XM_006721794.4:c.702G>A, XM_006721794.3:c.702G>A, XM_006721794.2:c.702G>A, XM_006721794.1:c.702G>A, XM_047435704.1:c.759G>A, XM_047435705.1:c.381G>A, XM_047435706.1:c.216G>A, XM_047435707.1:c.1004G>A, XP_047291663.1:p.Arg335Gln

Select item 75927568313.

rs759275683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:31975530 (GRCh38)
17:30302549 (GRCh37)
Canonical SPDI:: NC_000017.11:31975529:C:G,NC_000017.11:31975529:C:T
Gene:: SUZ12 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000008/1 (ExAC)
HGVS:: NC_000017.11:g.31975530C>G, NC_000017.11:g.31975530C>T, NC_000017.10:g.30302549C>G, NC_000017.10:g.30302549C>T, NG_009237.1:g.43506C>G, NG_009237.1:g.43506C>T, NM_015355.4:c.640C>G, NM_015355.4:c.640C>T, NM_015355.3:c.640C>G, NM_015355.3:c.640C>T, NM_015355.2:c.640C>G, NM_015355.2:c.640C>T, NM_001321207.2:c.571C>G, NM_001321207.2:c.571C>T, NM_001321207.1:c.571C>G, NM_001321207.1:c.571C>T, XM_006721794.4:c.232C>G, XM_006721794.4:c.232C>T, XM_006721794.3:c.232C>G, XM_006721794.3:c.232C>T, XM_006721794.2:c.232C>G, XM_006721794.2:c.232C>T, XM_006721794.1:c.232C>G, XM_006721794.1:c.232C>T, XM_047435704.1:c.289C>G, XM_047435704.1:c.289C>T, XM_047435705.1:c.-90C>G, XM_047435705.1:c.-90C>T, XM_047435707.1:c.640C>G, XM_047435707.1:c.640C>T, NP_056170.2:p.Pro214Ala, NP_056170.2:p.Pro214Ser, NP_001308136.1:p.Pro191Ala, NP_001308136.1:p.Pro191Ser, XP_006721857.1:p.Pro78Ala, XP_006721857.1:p.Pro78Ser, XP_047291660.1:p.Pro97Ala, XP_047291660.1:p.Pro97Ser, XP_047291663.1:p.Pro214Ala, XP_047291663.1:p.Pro214Ser

Select item 76072681614.

rs760726816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:31937264 (GRCh38)
17:30264283 (GRCh37)
Canonical SPDI:: NC_000017.11:31937263:C:A,NC_000017.11:31937263:C:G,NC_000017.11:31937263:C:T
Gene:: SUZ12 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000117/2 (GnomAD_exomes)
T=0.000374/1 (ExAC)
HGVS:: NC_000017.11:g.31937264C>A, NC_000017.11:g.31937264C>G, NC_000017.11:g.31937264C>T, NC_000017.10:g.30264283C>A, NC_000017.10:g.30264283C>G, NC_000017.10:g.30264283C>T, NG_009237.1:g.5240C>A, NG_009237.1:g.5240C>G, NG_009237.1:g.5240C>T, NM_015355.4:c.18C>A, NM_015355.4:c.18C>G, NM_015355.4:c.18C>T, NM_015355.3:c.18C>A, NM_015355.3:c.18C>G, NM_015355.3:c.18C>T, NM_015355.2:c.18C>A, NM_015355.2:c.18C>G, NM_015355.2:c.18C>T, NM_001321207.2:c.18C>A, NM_001321207.2:c.18C>G, NM_001321207.2:c.18C>T, NM_001321207.1:c.18C>A, NM_001321207.1:c.18C>G, NM_001321207.1:c.18C>T, XM_006721794.4:c.-279C>A, XM_006721794.4:c.-279C>G, XM_006721794.4:c.-279C>T, XM_047435704.1:c.-366C>A, XM_047435704.1:c.-366C>G, XM_047435704.1:c.-366C>T, XM_047435707.1:c.18C>A, XM_047435707.1:c.18C>G, XM_047435707.1:c.18C>T, NP_056170.2:p.His6Gln, NP_056170.2:p.His6Gln, NP_001308136.1:p.His6Gln, NP_001308136.1:p.His6Gln, XP_047291663.1:p.His6Gln, XP_047291663.1:p.His6Gln

Select item 76963650515.

rs769636505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:31988334 (GRCh38)
17:30315353 (GRCh37)
Canonical SPDI:: NC_000017.11:31988333:C:T
Gene:: SUZ12 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000085/3 (ALFA)
T=0./0 (TWINSUK)
T=0.000035/1 (TOMMO)
T=0.000085/18 (GnomAD_exomes)
T=0.000086/12 (GnomAD)
T=0.000102/27 (TOPMED)
T=0.000118/14 (ExAC)
T=0.000259/1 (ALSPAC)
HGVS:: NC_000017.11:g.31988334C>T, NC_000017.10:g.30315353C>T, NG_009237.1:g.56310C>T, NM_015355.4:c.1038C>T, NM_015355.3:c.1038C>T, NM_015355.2:c.1038C>T, NM_001321207.2:c.969C>T, NM_001321207.1:c.969C>T, XM_006721794.4:c.630C>T, XM_006721794.3:c.630C>T, XM_006721794.2:c.630C>T, XM_006721794.1:c.630C>T, XM_047435704.1:c.687C>T, XM_047435705.1:c.309C>T, XM_047435706.1:c.144C>T, XM_047435707.1:c.932C>T, XP_047291663.1:p.Ser311Leu

Select item 77170408916.

rs771704089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:31998743 (GRCh38)
17:30325762 (GRCh37)
Canonical SPDI:: NC_000017.11:31998742:C:A,NC_000017.11:31998742:C:T
Gene:: SUZ12 (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000009/1 (ExAC)
HGVS:: NC_000017.11:g.31998743C>A, NC_000017.11:g.31998743C>T, NC_000017.10:g.30325762C>A, NC_000017.10:g.30325762C>T, NG_009237.1:g.66719C>A, NG_009237.1:g.66719C>T, NM_015355.4:c.1960C>A, NM_015355.4:c.1960C>T, NM_015355.3:c.1960C>A, NM_015355.3:c.1960C>T, NM_015355.2:c.1960C>A, NM_015355.2:c.1960C>T, NM_001321207.2:c.1891C>A, NM_001321207.2:c.1891C>T, NM_001321207.1:c.1891C>A, NM_001321207.1:c.1891C>T, XM_006721794.4:c.1552C>A, XM_006721794.4:c.1552C>T, XM_006721794.3:c.1552C>A, XM_006721794.3:c.1552C>T, XM_006721794.2:c.1552C>A, XM_006721794.2:c.1552C>T, XM_006721794.1:c.1552C>A, XM_006721794.1:c.1552C>T, XM_047435704.1:c.1609C>A, XM_047435704.1:c.1609C>T, XM_047435705.1:c.1231C>A, XM_047435705.1:c.1231C>T, XM_047435706.1:c.1066C>A, XM_047435706.1:c.1066C>T, NP_056170.2:p.Arg654Ter, NP_001308136.1:p.Arg631Ter, XP_006721857.1:p.Arg518Ter, XP_047291660.1:p.Arg537Ter, XP_047291661.1:p.Arg411Ter, XP_047291662.1:p.Arg356Ter

Select item 99062104617.

rs990621046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:31988455 (GRCh38)
17:30315474 (GRCh37)
Canonical SPDI:: NC_000017.11:31988454:C:G,NC_000017.11:31988454:C:T
Gene:: SUZ12 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,stop_gained
Clinical significance:: uncertain-significance
Validated:: by cluster
HGVS:: NC_000017.11:g.31988455C>G, NC_000017.11:g.31988455C>T, NC_000017.10:g.30315474C>G, NC_000017.10:g.30315474C>T, NG_009237.1:g.56431C>G, NG_009237.1:g.56431C>T, NM_015355.4:c.1159C>G, NM_015355.4:c.1159C>T, NM_015355.3:c.1159C>G, NM_015355.3:c.1159C>T, NM_015355.2:c.1159C>G, NM_015355.2:c.1159C>T, NM_001321207.2:c.1090C>G, NM_001321207.2:c.1090C>T, NM_001321207.1:c.1090C>G, NM_001321207.1:c.1090C>T, XM_006721794.4:c.751C>G, XM_006721794.4:c.751C>T, XM_006721794.3:c.751C>G, XM_006721794.3:c.751C>T, XM_006721794.2:c.751C>G, XM_006721794.2:c.751C>T, XM_006721794.1:c.751C>G, XM_006721794.1:c.751C>T, XM_047435704.1:c.808C>G, XM_047435704.1:c.808C>T, XM_047435705.1:c.430C>G, XM_047435705.1:c.430C>T, XM_047435706.1:c.265C>G, XM_047435706.1:c.265C>T, XM_047435707.1:c.1053C>G, XM_047435707.1:c.1053C>T, NP_056170.2:p.Gln387Glu, NP_056170.2:p.Gln387Ter, NP_001308136.1:p.Gln364Glu, NP_001308136.1:p.Gln364Ter, XP_006721857.1:p.Gln251Glu, XP_006721857.1:p.Gln251Ter, XP_047291660.1:p.Gln270Glu, XP_047291660.1:p.Gln270Ter, XP_047291661.1:p.Gln144Glu, XP_047291661.1:p.Gln144Ter, XP_047291662.1:p.Gln89Glu, XP_047291662.1:p.Gln89Ter, XP_047291663.1:p.Ile351Met

Select item 101166462318.

rs1011664623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:31940281 (GRCh38)
17:30267300 (GRCh37)
Canonical SPDI:: NC_000017.11:31940280:C:G,NC_000017.11:31940280:C:T
Gene:: SUZ12 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.31940281C>G, NC_000017.11:g.31940281C>T, NC_000017.10:g.30267300C>G, NC_000017.10:g.30267300C>T, NG_009237.1:g.8257C>G, NG_009237.1:g.8257C>T, XM_047435704.1:c.-82C>G, XM_047435704.1:c.-82C>T

Select item 113169217719.

rs1131692177 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:31996832 (GRCh38)
17:30323851 (GRCh37)
Canonical SPDI:: NC_000017.11:31996831:A:T
Gene:: SUZ12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
HGVS:: NC_000017.11:g.31996832A>T, NC_000017.10:g.30323851A>T, NG_009237.1:g.64808A>T, NM_015355.4:c.1829A>T, NM_015355.3:c.1829A>T, NM_015355.2:c.1829A>T, NM_001321207.2:c.1760A>T, NM_001321207.1:c.1760A>T, XM_006721794.4:c.1421A>T, XM_006721794.3:c.1421A>T, XM_006721794.2:c.1421A>T, XM_006721794.1:c.1421A>T, XM_047435704.1:c.1478A>T, XM_047435705.1:c.1100A>T, XM_047435706.1:c.935A>T, NP_056170.2:p.Glu610Val, NP_001308136.1:p.Glu587Val, XP_006721857.1:p.Glu474Val, XP_047291660.1:p.Glu493Val, XP_047291661.1:p.Glu367Val, XP_047291662.1:p.Glu312Val

Select item 124227142720.

rs1242271427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31995763 (GRCh38)
17:30322782 (GRCh37)
Canonical SPDI:: NC_000017.11:31995762:G:A
Gene:: SUZ12 (Varview)
Functional Consequence:: splice_donor_variant,genic_downstream_transcript_variant
Clinical significance:: pathogenic
HGVS:: NC_000017.11:g.31995763G>A, NC_000017.10:g.30322782G>A, NG_009237.1:g.63739G>A

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