SNP Links for Gene (Select 153478) - SNP

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Select item 14915327261.

rs1491532726 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:184004 (GRCh38)
5:184119 (GRCh37)
Canonical SPDI:: NC_000005.10:184002:AGA:A
Gene:: PLEKHG4B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.184004_184005del, NC_000005.9:g.184119_184120del, NG_054915.1:g.134990_134991del, NM_052909.5:c.*1681_*1682del, NM_052909.4:c.*1681_*1682del, NM_052909.3:c.*1681_*1682del

Select item 14915196542.

rs1491519654 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TG [Show Flanks]
Chromosome:: 5:108497 (GRCh38)
5:108613 (GRCh37)
Canonical SPDI:: NC_000005.10:108497::T,NC_000005.10:108497::TG
Gene:: PLEKHG4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0.001286/21 (ALFA)
T=0.000032/4 (GnomAD)
TG=0.000389/7 (TOMMO)
HGVS:: NC_000005.10:g.108497_108498insT, NC_000005.10:g.108497_108498insTG, NC_000005.9:g.108612_108613insT, NC_000005.9:g.108612_108613insTG, NG_054915.1:g.59483_59484insT, NG_054915.1:g.59483_59484insTG

Select item 14915187923.

rs1491518792 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:141585 (GRCh38)
5:141701 (GRCh37)
Canonical SPDI:: NC_000005.10:141585:A:AA
Gene:: PLEKHG4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000042/11 (TOPMED)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000005.10:g.141586dup, NC_000005.9:g.141701dup, NG_054915.1:g.92572dup

Select item 14915177824.

rs1491517782 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:145777 (GRCh38)
5:145893 (GRCh37)
Canonical SPDI:: NC_000005.10:145777:GGGGGG:GGGGGGG
Gene:: PLEKHG4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGGG=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.145783dup, NC_000005.9:g.145898dup, NG_054915.1:g.96769dup

Select item 14914998085.

rs1491499808 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGAGA [Show Flanks]
Chromosome:: 5:184000 (GRCh38)
5:184115 (GRCh37)
Canonical SPDI:: NC_000005.10:183998:AGA:A,NC_000005.10:183998:AGA:AGAGAGA
Gene:: PLEKHG4B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.184000_184001del, NC_000005.10:g.184000GA[3], NC_000005.9:g.184115_184116del, NC_000005.9:g.184115GA[3], NG_054915.1:g.134986_134987del, NG_054915.1:g.134986GA[3], NM_052909.5:c.*1677_*1678del, NM_052909.5:c.*1677GA[3], NM_052909.4:c.*1677_*1678del, NM_052909.4:c.*1677GA[3], NM_052909.3:c.*1677_*1678del, NM_052909.3:c.*1677GA[3]

Select item 14914659826.

rs1491465982 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAT [Show Flanks]
Chromosome:: 5:184011 (GRCh38)
5:184127 (GRCh37)
Canonical SPDI:: NC_000005.10:184011:GAT:GATGAT
Gene:: PLEKHG4B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GATGAT=0./0 (ALFA)
GAT=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.184012_184014dup, NC_000005.9:g.184127_184129dup, NG_054915.1:g.134998_135000dup, NM_052909.5:c.*1689_*1691dup, NM_052909.4:c.*1689_*1691dup, NM_052909.3:c.*1689_*1691dup

Select item 14914498297.

rs1491449829 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGAT,GAT [Show Flanks]
Chromosome:: 5:183999 (GRCh38)
5:184115 (GRCh37)
Canonical SPDI:: NC_000005.10:183999:GAT:GATCGAT,NC_000005.10:183999:GAT:GATGAT
Gene:: PLEKHG4B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GATGAT=0./0 (ALFA)
GAT=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.184002_184003insCGAT, NC_000005.10:g.184000_184002dup, NC_000005.9:g.184117_184118insCGAT, NC_000005.9:g.184115_184117dup, NG_054915.1:g.134988_134989insCGAT, NG_054915.1:g.134986_134988dup, NM_052909.5:c.*1679_*1680insCGAT, NM_052909.5:c.*1677_*1679dup, NM_052909.4:c.*1679_*1680insCGAT, NM_052909.4:c.*1677_*1679dup, NM_052909.3:c.*1679_*1680insCGAT, NM_052909.3:c.*1677_*1679dup

Select item 14914037728.

rs1491403772 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGATCGATAGATAGAT [Show Flanks]
Chromosome:: 5:183979 (GRCh38)
5:184095 (GRCh37)
Canonical SPDI:: NC_000005.10:183979:GATAGATAGAT:GATAGATAGATAGATCGATAGATAGAT
Gene:: PLEKHG4B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GATAGATAGATAGATCGATAGATAGAT=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.183980_183990GATA[3]GATCGATAGATAGAT[1], NC_000005.9:g.184095_184105GATA[3]GATCGATAGATAGAT[1], NG_054915.1:g.134966_134976GATA[3]GATCGATAGATAGAT[1], NM_052909.5:c.*1657_*1667GATA[3]GATCGATAGATAGAT[1], NM_052909.4:c.*1657_*1667GATA[3]GATCGATAGATAGAT[1], NM_052909.3:c.*1657_*1667GATA[3]GATCGATAGATAGAT[1]

Select item 14913966469.

rs1491396646 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:184012 (GRCh38)
5:184127 (GRCh37)
Canonical SPDI:: NC_000005.10:184010:AGA:A
Gene:: PLEKHG4B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.184012_184013del, NC_000005.9:g.184127_184128del, NG_054915.1:g.134998_134999del, NM_052909.5:c.*1689_*1690del, NM_052909.4:c.*1689_*1690del, NM_052909.3:c.*1689_*1690del

Select item 149139318010.

rs1491393180 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:183976 (GRCh38)
5:184091 (GRCh37)
Canonical SPDI:: NC_000005.10:183974:AGA:A
Gene:: PLEKHG4B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000017/1 (GnomAD)
HGVS:: NC_000005.10:g.183976_183977del, NC_000005.9:g.184091_184092del, NG_054915.1:g.134962_134963del, NM_052909.5:c.*1653_*1654del, NM_052909.4:c.*1653_*1654del, NM_052909.3:c.*1653_*1654del

Select item 149139017911.

rs1491390179 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 5:130070 (GRCh38)
5:130185 (GRCh37)
Canonical SPDI:: NC_000005.10:130068:GTG:G
Gene:: PLEKHG4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000024/3 (GnomAD)
HGVS:: NC_000005.10:g.130070_130071del, NC_000005.9:g.130185_130186del, NG_054915.1:g.81056_81057del

Select item 149134618312.

rs1491346183 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:141585 (GRCh38)
5:141700 (GRCh37)
Canonical SPDI:: NC_000005.10:141584:CA:
Gene:: PLEKHG4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.141585_141586del, NC_000005.9:g.141700_141701del, NG_054915.1:g.92571_92572del

Select item 149134281013.

rs1491342810 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:184024 (GRCh38)
5:184139 (GRCh37)
Canonical SPDI:: NC_000005.10:184022:AGA:A
Gene:: PLEKHG4B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.184024_184025del, NC_000005.9:g.184139_184140del, NG_054915.1:g.135010_135011del, NM_052909.5:c.*1701_*1702del, NM_052909.4:c.*1701_*1702del, NM_052909.3:c.*1701_*1702del

Select item 149133680314.

rs1491336803 has merged into rs537116888 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 5:59949 (GRCh38)
5:60064 (GRCh37)
Canonical SPDI:: NC_000005.10:59936:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:59936:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:59936:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:59936:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:59936:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.59949_59951del, NC_000005.10:g.59950_59951del, NC_000005.10:g.59951del, NC_000005.10:g.59951dup, NC_000005.10:g.59950_59951dup, NC_000005.9:g.60064_60066del, NC_000005.9:g.60065_60066del, NC_000005.9:g.60066del, NC_000005.9:g.60066dup, NC_000005.9:g.60065_60066dup, NG_054915.1:g.10935_10937del, NG_054915.1:g.10936_10937del, NG_054915.1:g.10937del, NG_054915.1:g.10937dup, NG_054915.1:g.10936_10937dup

Select item 149131826215.

rs1491318262 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:190345 (GRCh38)
5:190460 (GRCh37)
Canonical SPDI:: NC_000005.10:190344:GT:
Gene:: PLEKHG4B (Varview), LRRC14B (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.29279/4126 (ALFA)
-=0.000743/12 (TOMMO)
-=0.116659/16321 (GnomAD)
-=0.138333/83 (NorthernSweden)
-=0.228334/880 (ALSPAC)
-=0.228695/848 (TWINSUK)
HGVS:: NC_000005.10:g.190345_190346del, NC_000005.9:g.190460_190461del, NG_054915.1:g.141331_141332del, NG_053103.1:g.3835_3836del

Select item 149131084616.

rs1491310846 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:145777 (GRCh38)
5:145892 (GRCh37)
Canonical SPDI:: NC_000005.10:145776:AG:
Gene:: PLEKHG4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000053/14 (TOPMED)
HGVS:: NC_000005.10:g.145777_145778del, NC_000005.9:g.145892_145893del, NG_054915.1:g.96763_96764del

Select item 149130622717.

rs1491306227 has merged into rs36078870 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 5:90212 (GRCh38)
5:90327 (GRCh37)
Canonical SPDI:: NC_000005.10:90205:CCCCCCCCCC:CCCCCC,NC_000005.10:90205:CCCCCCCCCC:CCCCCCCC,NC_000005.10:90205:CCCCCCCCCC:CCCCCCCCC,NC_000005.10:90205:CCCCCCCCCC:CCCCCCCCCCC,NC_000005.10:90205:CCCCCCCCCC:CCCCCCCCCCCC,NC_000005.10:90205:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000005.10:90205:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000005.10:90205:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000005.10:90205:CCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000005.10:90205:CCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000005.10:90205:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000005.10:90205:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC
Gene:: PLEKHG4B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCC=0./0 (ALFA)
C=0.2786/278 (GoNL)
C=0.291/1281 (Estonian)
C=0.3235/1620 (1000Genomes)
C=0.325/13 (GENOME_DK)
HGVS:: NC_000005.10:g.90212_90215del, NC_000005.10:g.90214_90215del, NC_000005.10:g.90215del, NC_000005.10:g.90215dup, NC_000005.10:g.90214_90215dup, NC_000005.10:g.90213_90215dup, NC_000005.10:g.90212_90215dup, NC_000005.10:g.90210_90215dup, NC_000005.10:g.90209_90215dup, NC_000005.10:g.90208_90215dup, NC_000005.10:g.90207_90215dup, NC_000005.10:g.90215_90216insCCCCCCCCCCC, NC_000005.9:g.90327_90330del, NC_000005.9:g.90329_90330del, NC_000005.9:g.90330del, NC_000005.9:g.90330dup, NC_000005.9:g.90329_90330dup, NC_000005.9:g.90328_90330dup, NC_000005.9:g.90327_90330dup, NC_000005.9:g.90325_90330dup, NC_000005.9:g.90324_90330dup, NC_000005.9:g.90323_90330dup, NC_000005.9:g.90322_90330dup, NC_000005.9:g.90330_90331insCCCCCCCCCCC, NG_054915.1:g.41198_41201del, NG_054915.1:g.41200_41201del, NG_054915.1:g.41201del, NG_054915.1:g.41201dup, NG_054915.1:g.41200_41201dup, NG_054915.1:g.41199_41201dup, NG_054915.1:g.41198_41201dup, NG_054915.1:g.41196_41201dup, NG_054915.1:g.41195_41201dup, NG_054915.1:g.41194_41201dup, NG_054915.1:g.41193_41201dup, NG_054915.1:g.41201_41202insCCCCCCCCCCC

Select item 149129258318.

rs1491292583 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAGATAGATAGATAGATAGATAGATAGATGATAGA,TAGATAGATAGATAGATAGATGATAGA,TAGATAGATAGATAGATGATAGA,TAGATAGATAGATGATAGA,TAGATAGATGATAGA,TAGATGATAGA,TGATAGA [Show Flanks]
Chromosome:: 5:184023 (GRCh38)
5:184139 (GRCh37)
Canonical SPDI:: NC_000005.10:184023:GATAGA:GATAGATAGATAGATAGATAGATAGATAGATAGATGATAGA,NC_000005.10:184023:GATAGA:GATAGATAGATAGATAGATAGATAGATGATAGA,NC_000005.10:184023:GATAGA:GATAGATAGATAGATAGATAGATGATAGA,NC_000005.10:184023:GATAGA:GATAGATAGATAGATAGATGATAGA,NC_000005.10:184023:GATAGA:GATAGATAGATAGATGATAGA,NC_000005.10:184023:GATAGA:GATAGATAGATGATAGA,NC_000005.10:184023:GATAGA:GATAGATGATAGA
Gene:: PLEKHG4B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GATAGATAGATAGATAGATAGATGATAGA=0./0 (ALFA)
GATAGATAGATAGATAGATAGATAGAT=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.184024_184029GATA[8]GAT[2]AGA[1], NC_000005.10:g.184024_184029GATA[6]GAT[2]AGA[1], NC_000005.10:g.184024_184029GATA[5]GAT[2]AGA[1], NC_000005.10:g.184024_184029GATA[4]GAT[2]AGA[1], NC_000005.10:g.184024_184029GATA[3]GAT[2]AGA[1], NC_000005.10:g.184024_184029GATA[2]GAT[2]AGA[1], NC_000005.10:g.184029_184030insTGATAGA, NC_000005.9:g.184139_184144GATA[8]GAT[2]AGA[1], NC_000005.9:g.184139_184144GATA[6]GAT[2]AGA[1], NC_000005.9:g.184139_184144GATA[5]GAT[2]AGA[1], NC_000005.9:g.184139_184144GATA[4]GAT[2]AGA[1], NC_000005.9:g.184139_184144GATA[3]GAT[2]AGA[1], NC_000005.9:g.184139_184144GATA[2]GAT[2]AGA[1], NC_000005.9:g.184144_184145insTGATAGA, NG_054915.1:g.135010_135015GATA[8]GAT[2]AGA[1], NG_054915.1:g.135010_135015GATA[6]GAT[2]AGA[1], NG_054915.1:g.135010_135015GATA[5]GAT[2]AGA[1], NG_054915.1:g.135010_135015GATA[4]GAT[2]AGA[1], NG_054915.1:g.135010_135015GATA[3]GAT[2]AGA[1], NG_054915.1:g.135010_135015GATA[2]GAT[2]AGA[1], NG_054915.1:g.135015_135016insTGATAGA, NM_052909.5:c.*1701_*1706GATA[8]GAT[2]AGA[1], NM_052909.5:c.*1701_*1706GATA[6]GAT[2]AGA[1], NM_052909.5:c.*1701_*1706GATA[5]GAT[2]AGA[1], NM_052909.5:c.*1701_*1706GATA[4]GAT[2]AGA[1], NM_052909.5:c.*1701_*1706GATA[3]GAT[2]AGA[1], NM_052909.5:c.*1701_*1706GATA[2]GAT[2]AGA[1], NM_052909.5:c.*1706_*1707insTGATAGA, NM_052909.4:c.*1701_*1706GATA[8]GAT[2]AGA[1], NM_052909.4:c.*1701_*1706GATA[6]GAT[2]AGA[1], NM_052909.4:c.*1701_*1706GATA[5]GAT[2]AGA[1], NM_052909.4:c.*1701_*1706GATA[4]GAT[2]AGA[1], NM_052909.4:c.*1701_*1706GATA[3]GAT[2]AGA[1], NM_052909.4:c.*1701_*1706GATA[2]GAT[2]AGA[1], NM_052909.4:c.*1706_*1707insTGATAGA, NM_052909.3:c.*1701_*1706GATA[8]GAT[2]AGA[1], NM_052909.3:c.*1701_*1706GATA[6]GAT[2]AGA[1], NM_052909.3:c.*1701_*1706GATA[5]GAT[2]AGA[1], NM_052909.3:c.*1701_*1706GATA[4]GAT[2]AGA[1], NM_052909.3:c.*1701_*1706GATA[3]GAT[2]AGA[1], NM_052909.3:c.*1701_*1706GATA[2]GAT[2]AGA[1], NM_052909.3:c.*1706_*1707insTGATAGA

Select item 149128902819.

rs1491289028 [Homo sapiens]

Variant type:: SNV:
Alleles:: CG>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149128866820.

rs1491288668 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGATAGATAGAT,CGATCGATAGATAGAT [Show Flanks]
Chromosome:: 5:183975 (GRCh38)
5:184091 (GRCh37)
Canonical SPDI:: NC_000005.10:183975:GATAGATAGAT:GATAGATAGATCGATAGATAGAT,NC_000005.10:183975:GATAGATAGAT:GATAGATAGATCGATCGATAGATAGAT
Gene:: PLEKHG4B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GATAGATAGATCGATCGATAGATAGAT=0./0 (ALFA)
HGVS:: NC_000005.10:g.183976_183986GATA[2]GATCGATAGATAGAT[1], NC_000005.10:g.183976_183986GATA[2]GATC[2]GATA[2]GAT[1], NC_000005.9:g.184091_184101GATA[2]GATCGATAGATAGAT[1], NC_000005.9:g.184091_184101GATA[2]GATC[2]GATA[2]GAT[1], NG_054915.1:g.134962_134972GATA[2]GATCGATAGATAGAT[1], NG_054915.1:g.134962_134972GATA[2]GATC[2]GATA[2]GAT[1], NM_052909.5:c.*1653_*1663GATA[2]GATCGATAGATAGAT[1], NM_052909.5:c.*1653_*1663GATA[2]GATC[2]GATA[2]GAT[1], NM_052909.4:c.*1653_*1663GATA[2]GATCGATAGATAGAT[1], NM_052909.4:c.*1653_*1663GATA[2]GATC[2]GATA[2]GAT[1], NM_052909.3:c.*1653_*1663GATA[2]GATCGATAGATAGAT[1], NM_052909.3:c.*1653_*1663GATA[2]GATC[2]GATA[2]GAT[1]

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dbSNP

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