SNP Links for Nucleotide (Select 270265815) - SNP

Links from Nucleotide

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Select item 14913686661.

rs1491368666 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:31193513 (GRCh38)
16:31204834 (GRCh37)
Canonical SPDI:: NC_000016.10:31193512:CT:
Gene:: FUS (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31193513_31193514del, NC_000016.9:g.31204834_31204835del, NG_012889.2:g.18382_18383del, NM_004960.3:c.*2075_*2076del, NR_028388.2:n.3726_3727del, NM_001170634.1:c.*2075_*2076del, NM_001170937.1:c.*2075_*2076del, XM_011545782.3:c.*2075_*2076del, XM_011545781.2:c.*2075_*2076del, XM_024450221.2:c.*2075_*2076del

Select item 14913533192.

rs1491353319 has merged into rs1211904015 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:31192583 (GRCh38)
16:31203904 (GRCh37)
Canonical SPDI:: NC_000016.10:31192581:ACA:A
Gene:: FUS (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.009984/230 (ALFA)
-=0.002004/2 (GoNL)
-=0.002854/11 (ALSPAC)
-=0.002967/11 (TWINSUK)
-=0.00836/90 (ExAC)
-=0.008445/1081 (GnomAD_exomes)
-=0.032511/4557 (GnomAD)
-=0.035134/176 (1000Genomes)
HGVS:: NC_000016.10:g.31192583_31192584del, NC_000016.9:g.31203904_31203905del, NG_012889.2:g.17452_17453del, NM_004960.3:c.*1145_*1146del, NR_028388.2:n.2796_2797del, NM_001170634.1:c.*1145_*1146del, NM_001170937.1:c.*1145_*1146del, XM_011545782.3:c.*1145_*1146del, XM_011545781.2:c.*1145_*1146del, XM_024450221.2:c.*1145_*1146del

Select item 14912855833.

rs1491285583 has merged into rs1211904015 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:31192583 (GRCh38)
16:31203904 (GRCh37)
Canonical SPDI:: NC_000016.10:31192581:ACA:A
Gene:: FUS (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.009984/230 (ALFA)
-=0.002004/2 (GoNL)
-=0.002854/11 (ALSPAC)
-=0.002967/11 (TWINSUK)
-=0.00836/90 (ExAC)
-=0.008445/1081 (GnomAD_exomes)
-=0.032511/4557 (GnomAD)
-=0.035134/176 (1000Genomes)
HGVS:: NC_000016.10:g.31192583_31192584del, NC_000016.9:g.31203904_31203905del, NG_012889.2:g.17452_17453del, NM_004960.3:c.*1145_*1146del, NR_028388.2:n.2796_2797del, NM_001170634.1:c.*1145_*1146del, NM_001170937.1:c.*1145_*1146del, XM_011545782.3:c.*1145_*1146del, XM_011545781.2:c.*1145_*1146del, XM_024450221.2:c.*1145_*1146del

Select item 14911301814.

rs1491130181 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:31193513 (GRCh38)
16:31204835 (GRCh37)
Canonical SPDI:: NC_000016.10:31193513:T:TT
Gene:: FUS (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.31193514dup, NC_000016.9:g.31204835dup, NG_012889.2:g.18383dup, NM_004960.3:c.*2076dup, NR_028388.2:n.3727dup, NM_001170634.1:c.*2076dup, NM_001170937.1:c.*2076dup, XM_011545782.3:c.*2076dup, XM_011545781.2:c.*2076dup, XM_024450221.2:c.*2076dup

Select item 14893913845.

rs1489391384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31184285 (GRCh38)
16:31195606 (GRCh37)
Canonical SPDI:: NC_000016.10:31184284:G:A
Gene:: FUS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_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_000016.10:g.31184285G>A, NC_000016.9:g.31195606G>A, NG_012889.2:g.9154G>A, NM_004960.4:c.412G>A, NM_004960.3:c.412G>A, NR_028388.2:n.517G>A, NM_001170634.1:c.409G>A, NM_001170937.1:c.412G>A, XM_011545781.2:c.412G>A, XM_011545781.1:c.412G>A, XM_024450221.2:c.409G>A, XM_024450221.1:c.409G>A, NM_001010850.1:c.412G>A, NP_004951.1:p.Gly138Arg, NP_001164105.1:p.Gly137Arg, NP_001164408.1:p.Gly138Arg, XP_011544083.1:p.Gly138Arg, XP_024305989.1:p.Gly137Arg

Select item 14884432926.

rs1488443292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:31191857 (GRCh38)
16:31203178 (GRCh37)
Canonical SPDI:: NC_000016.10:31191856:T:C
Gene:: FUS (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31191857T>C, NC_000016.9:g.31203178T>C, NG_012889.2:g.16726T>C, NM_004960.3:c.*419T>C, NR_028388.2:n.2070T>C, NM_001170634.1:c.*419T>C, NM_001170937.1:c.*419T>C, XM_011545782.3:c.*419T>C, XM_011545781.2:c.*419T>C, XM_024450221.2:c.*419T>C

Select item 14883513537.

rs1488351353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:31191061 (GRCh38)
16:31202382 (GRCh37)
Canonical SPDI:: NC_000016.10:31191060:C:G,NC_000016.10:31191060:C:T
Gene:: FUS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.31191061C>G, NC_000016.10:g.31191061C>T, NC_000016.9:g.31202382C>G, NC_000016.9:g.31202382C>T, NG_012889.2:g.15930C>G, NG_012889.2:g.15930C>T, NM_004960.4:c.1492C>G, NM_004960.4:c.1492C>T, NM_004960.3:c.1492C>G, NM_004960.3:c.1492C>T, NR_028388.2:n.1562C>G, NR_028388.2:n.1562C>T, NM_001170634.1:c.1489C>G, NM_001170634.1:c.1489C>T, NM_001170937.1:c.1480C>G, NM_001170937.1:c.1480C>T, XM_011545782.3:c.877C>G, XM_011545782.3:c.877C>T, XM_011545782.2:c.877C>G, XM_011545782.2:c.877C>T, XM_011545782.1:c.877C>G, XM_011545782.1:c.877C>T, XM_011545781.2:c.1486C>G, XM_011545781.2:c.1486C>T, XM_011545781.1:c.1486C>G, XM_011545781.1:c.1486C>T, XM_024450221.2:c.1483C>G, XM_024450221.2:c.1483C>T, XM_024450221.1:c.1483C>G, XM_024450221.1:c.1483C>T, NM_001010850.1:c.*665C>G, NM_001010850.1:c.*665C>T, NP_004951.1:p.Arg498Gly, NP_004951.1:p.Arg498Trp, NP_001164105.1:p.Arg497Gly, NP_001164105.1:p.Arg497Trp, NP_001164408.1:p.Arg494Gly, NP_001164408.1:p.Arg494Trp, XP_011544084.1:p.Arg293Gly, XP_011544084.1:p.Arg293Trp, XP_011544083.1:p.Arg496Gly, XP_011544083.1:p.Arg496Trp, XP_024305989.1:p.Arg495Gly, XP_024305989.1:p.Arg495Trp

Select item 14883472598.

rs1488347259 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:31191558 (GRCh38)
16:31202879 (GRCh37)
Canonical SPDI:: NC_000016.10:31191557:T:C
Gene:: FUS (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.31191558T>C, NC_000016.9:g.31202879T>C, NG_012889.2:g.16427T>C, NM_004960.4:c.*120T>C, NM_004960.3:c.*120T>C, NR_028388.2:n.1771T>C, NM_001170634.1:c.*120T>C, NM_001170937.1:c.*120T>C, XM_011545782.3:c.*120T>C, XM_011545782.2:c.*120T>C, XM_011545782.1:c.*120T>C, XM_011545781.2:c.*120T>C, XM_011545781.1:c.*120T>C, XM_024450221.2:c.*120T>C, XM_024450221.1:c.*120T>C, NM_001010850.1:c.*874T>C

Select item 14882940349.

rs1488294034 [Homo sapiens]

Variant type:: DEL
Alleles:: AGTGGT>- [Show Flanks]
Chromosome:: 16:31184366 (GRCh38)
16:31195687 (GRCh37)
Canonical SPDI:: NC_000016.10:31184365:AGTGGT:
Gene:: FUS (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000012/3 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.31184366_31184371del, NC_000016.9:g.31195687_31195692del, NG_012889.2:g.9235_9240del, NM_004960.4:c.493_498del, NM_004960.3:c.493_498del, NR_028388.2:n.598_603del, NM_001170634.1:c.490_495del, NM_001170937.1:c.493_498del, XM_011545782.3:c.-82_-77del, XM_011545782.1:c.-82_-77del, XM_011545781.2:c.493_498del, XM_011545781.1:c.493_498del, XM_024450221.2:c.490_495del, XM_024450221.1:c.490_495del, NM_001010850.1:c.493_498del, NP_004951.1:p.Ser165_Gly166del, NP_001164105.1:p.Ser164_Gly165del, NP_001164408.1:p.Ser165_Gly166del, XP_011544083.1:p.Ser165_Gly166del, XP_024305989.1:p.Ser164_Gly165del

Select item 148824817910.

rs1488248179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31194371 (GRCh38)
16:31205692 (GRCh37)
Canonical SPDI:: NC_000016.10:31194370:C:T
Gene:: FUS (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31194371C>T, NC_000016.9:g.31205692C>T, NG_012889.2:g.19240C>T, NM_004960.3:c.*2933C>T, NR_028388.2:n.4584C>T, NM_001170634.1:c.*2933C>T, NM_001170937.1:c.*2933C>T, XM_011545782.3:c.*2933C>T, XM_011545781.2:c.*2933C>T, XM_024450221.2:c.*2933C>T

Select item 148824338311.

rs1488243383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:31193899 (GRCh38)
16:31205220 (GRCh37)
Canonical SPDI:: NC_000016.10:31193898:A:G
Gene:: FUS (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31193899A>G, NC_000016.9:g.31205220A>G, NG_012889.2:g.18768A>G, NM_004960.3:c.*2461A>G, NR_028388.2:n.4112A>G, NM_001170634.1:c.*2461A>G, NM_001170937.1:c.*2461A>G, XM_011545782.3:c.*2461A>G, XM_011545781.2:c.*2461A>G, XM_024450221.2:c.*2461A>G

Select item 148818833312.

rs1488188333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31193691 (GRCh38)
16:31205012 (GRCh37)
Canonical SPDI:: NC_000016.10:31193690:G:A
Gene:: FUS (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000016/2 (GnomAD_exomes)
A=0.000283/5 (TOMMO)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000016.10:g.31193691G>A, NC_000016.9:g.31205012G>A, NG_012889.2:g.18560G>A, NM_004960.3:c.*2253G>A, NR_028388.2:n.3904G>A, NM_001170634.1:c.*2253G>A, NM_001170937.1:c.*2253G>A, XM_011545782.3:c.*2253G>A, XM_011545781.2:c.*2253G>A, XM_024450221.2:c.*2253G>A

Select item 148790334813.

rs1487903348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:31184281 (GRCh38)
16:31195602 (GRCh37)
Canonical SPDI:: NC_000016.10:31184280:T:C
Gene:: FUS (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31184281T>C, NC_000016.9:g.31195602T>C, NG_012889.2:g.9150T>C, NM_004960.4:c.408T>C, NM_004960.3:c.408T>C, NR_028388.2:n.513T>C, NM_001170634.1:c.405T>C, NM_001170937.1:c.408T>C, XM_011545781.2:c.408T>C, XM_011545781.1:c.408T>C, XM_024450221.2:c.405T>C, XM_024450221.1:c.405T>C, NM_001010850.1:c.408T>C

Select item 148726443414.

rs1487264434 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:31194025 (GRCh38)
16:31205346 (GRCh37)
Canonical SPDI:: NC_000016.10:31194024:A:G
Gene:: FUS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000023/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31194025A>G, NC_000016.9:g.31205346A>G, NG_012889.2:g.18894A>G, NM_004960.3:c.*2587A>G, NR_028388.2:n.4238A>G, NM_001170634.1:c.*2587A>G, NM_001170937.1:c.*2587A>G, XM_011545782.3:c.*2587A>G, XM_011545781.2:c.*2587A>G, XM_024450221.2:c.*2587A>G

Select item 148720309015.

rs1487203090 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:31193358 (GRCh38)
16:31204679 (GRCh37)
Canonical SPDI:: NC_000016.10:31193357:A:G
Gene:: FUS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31193358A>G, NC_000016.9:g.31204679A>G, NG_012889.2:g.18227A>G, NM_004960.3:c.*1920A>G, NR_028388.2:n.3571A>G, NM_001170634.1:c.*1920A>G, NM_001170937.1:c.*1920A>G, XM_011545782.3:c.*1920A>G, XM_011545781.2:c.*1920A>G, XM_024450221.2:c.*1920A>G

Select item 148642574116.

rs1486425741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31183879 (GRCh38)
16:31195200 (GRCh37)
Canonical SPDI:: NC_000016.10:31183878:C:T
Gene:: FUS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000016.10:g.31183879C>T, NC_000016.9:g.31195200C>T, NG_012889.2:g.8748C>T, NM_004960.4:c.212C>T, NM_004960.3:c.212C>T, NR_028388.2:n.317C>T, NM_001170634.1:c.209C>T, NM_001170937.1:c.212C>T, XM_011545781.2:c.212C>T, XM_011545781.1:c.212C>T, XM_024450221.2:c.209C>T, XM_024450221.1:c.209C>T, NM_001010850.1:c.212C>T, NP_004951.1:p.Thr71Ile, NP_001164105.1:p.Thr70Ile, NP_001164408.1:p.Thr71Ile, XP_011544083.1:p.Thr71Ile, XP_024305989.1:p.Thr70Ile

Select item 148624859717.

rs1486248597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:31193695 (GRCh38)
16:31205016 (GRCh37)
Canonical SPDI:: NC_000016.10:31193694:G:C
Gene:: FUS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31193695G>C, NC_000016.9:g.31205016G>C, NG_012889.2:g.18564G>C, NM_004960.3:c.*2257G>C, NR_028388.2:n.3908G>C, NM_001170634.1:c.*2257G>C, NM_001170937.1:c.*2257G>C, XM_011545782.3:c.*2257G>C, XM_011545781.2:c.*2257G>C, XM_024450221.2:c.*2257G>C

Select item 148576734818.

rs1485767348 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:31191832 (GRCh38)
16:31203153 (GRCh37)
Canonical SPDI:: NC_000016.10:31191831:A:G
Gene:: FUS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.31191832A>G, NC_000016.9:g.31203153A>G, NG_012889.2:g.16701A>G, NM_004960.3:c.*394A>G, NR_028388.2:n.2045A>G, NM_001170634.1:c.*394A>G, NM_001170937.1:c.*394A>G, XM_011545782.3:c.*394A>G, XM_011545781.2:c.*394A>G, XM_024450221.2:c.*394A>G

Select item 148537797619.

rs1485377976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:31182564 (GRCh38)
16:31193885 (GRCh37)
Canonical SPDI:: NC_000016.10:31182563:T:C
Gene:: FUS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00003/1 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.31182564T>C, NC_000016.9:g.31193885T>C, NG_012889.2:g.7433T>C, NM_004960.4:c.90T>C, NM_004960.3:c.90T>C, NR_028388.2:n.195T>C, NM_001170634.1:c.90T>C, NM_001170937.1:c.90T>C, XM_011545781.2:c.90T>C, XM_011545781.1:c.90T>C, XM_024450221.2:c.90T>C, XM_024450221.1:c.90T>C, NM_001010850.1:c.90T>C

Select item 148526684920.

rs1485266849 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:31193375 (GRCh38)
16:31204696 (GRCh37)
Canonical SPDI:: NC_000016.10:31193374:T:C
Gene:: FUS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.31193375T>C, NC_000016.9:g.31204696T>C, NG_012889.2:g.18244T>C, NM_004960.3:c.*1937T>C, NR_028388.2:n.3588T>C, NM_001170634.1:c.*1937T>C, NM_001170937.1:c.*1937T>C, XM_011545782.3:c.*1937T>C, XM_011545781.2:c.*1937T>C, XM_024450221.2:c.*1937T>C

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