SNP Links for Gene (Select 968) - SNP

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Select item 14910523501.

rs1491052350 has merged into rs575255819 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:7578709 (GRCh38)
17:7482027 (GRCh37)
Canonical SPDI:: NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CD68 (Varview), EIF4A1 (Varview), SENP3-EIF4A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.325/13 (GENOME_DK)
HGVS:: NC_000017.11:g.7578709_7578716del, NC_000017.11:g.7578712_7578716del, NC_000017.11:g.7578713_7578716del, NC_000017.11:g.7578714_7578716del, NC_000017.11:g.7578715_7578716del, NC_000017.11:g.7578716del, NC_000017.11:g.7578716dup, NC_000017.11:g.7578715_7578716dup, NC_000017.11:g.7578714_7578716dup, NC_000017.11:g.7578713_7578716dup, NC_000017.11:g.7578712_7578716dup, NC_000017.11:g.7578707_7578716dup, NC_000017.11:g.7578701_7578716dup, NC_000017.10:g.7482027_7482034del, NC_000017.10:g.7482030_7482034del, NC_000017.10:g.7482031_7482034del, NC_000017.10:g.7482032_7482034del, NC_000017.10:g.7482033_7482034del, NC_000017.10:g.7482034del, NC_000017.10:g.7482034dup, NC_000017.10:g.7482033_7482034dup, NC_000017.10:g.7482032_7482034dup, NC_000017.10:g.7482031_7482034dup, NC_000017.10:g.7482030_7482034dup, NC_000017.10:g.7482025_7482034dup, NC_000017.10:g.7482019_7482034dup, NG_009204.1:g.63_70del, NG_009204.1:g.66_70del, NG_009204.1:g.67_70del, NG_009204.1:g.68_70del, NG_009204.1:g.69_70del, NG_009204.1:g.70del, NG_009204.1:g.70dup, NG_009204.1:g.69_70dup, NG_009204.1:g.68_70dup, NG_009204.1:g.67_70dup, NG_009204.1:g.66_70dup, NG_009204.1:g.61_70dup, NG_009204.1:g.55_70dup, NM_001416.4:c.*223_*230del, NM_001416.4:c.*226_*230del, NM_001416.4:c.*227_*230del, NM_001416.4:c.*228_*230del, NM_001416.4:c.*229_*230del, NM_001416.4:c.*230del, NM_001416.4:c.*230dup, NM_001416.4:c.*229_*230dup, NM_001416.4:c.*228_*230dup, NM_001416.4:c.*227_*230dup, NM_001416.4:c.*226_*230dup, NM_001416.4:c.*221_*230dup, NM_001416.4:c.*215_*230dup, NM_001416.3:c.*223_*230del, NM_001416.3:c.*226_*230del, NM_001416.3:c.*227_*230del, NM_001416.3:c.*228_*230del, NM_001416.3:c.*229_*230del, NM_001416.3:c.*230del, NM_001416.3:c.*230dup, NM_001416.3:c.*229_*230dup, NM_001416.3:c.*228_*230dup, NM_001416.3:c.*227_*230dup, NM_001416.3:c.*226_*230dup, NM_001416.3:c.*221_*230dup, NM_001416.3:c.*215_*230dup, NM_001204510.2:c.*338_*345del, NM_001204510.2:c.*341_*345del, NM_001204510.2:c.*342_*345del, NM_001204510.2:c.*343_*345del, NM_001204510.2:c.*344_*345del, NM_001204510.2:c.*345del, NM_001204510.2:c.*345dup, NM_001204510.2:c.*344_*345dup, NM_001204510.2:c.*343_*345dup, NM_001204510.2:c.*342_*345dup, NM_001204510.2:c.*341_*345dup, NM_001204510.2:c.*336_*345dup, NM_001204510.2:c.*330_*345dup, NM_001204510.1:c.*338_*345del, NM_001204510.1:c.*341_*345del, NM_001204510.1:c.*342_*345del, NM_001204510.1:c.*343_*345del, NM_001204510.1:c.*344_*345del, NM_001204510.1:c.*345del, NM_001204510.1:c.*345dup, NM_001204510.1:c.*344_*345dup, NM_001204510.1:c.*343_*345dup, NM_001204510.1:c.*342_*345dup, NM_001204510.1:c.*341_*345dup, NM_001204510.1:c.*336_*345dup, NM_001204510.1:c.*330_*345dup, NR_037926.1:n.4006_4013del, NR_037926.1:n.4009_4013del, NR_037926.1:n.4010_4013del, NR_037926.1:n.4011_4013del, NR_037926.1:n.4012_4013del, NR_037926.1:n.4013del, NR_037926.1:n.4013dup, NR_037926.1:n.4012_4013dup, NR_037926.1:n.4011_4013dup, NR_037926.1:n.4010_4013dup, NR_037926.1:n.4009_4013dup, NR_037926.1:n.4004_4013dup, NR_037926.1:n.3998_4013dup

Select item 14899726872.

rs1489972687 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:7582299 (GRCh38)
17:7485617 (GRCh37)
Canonical SPDI:: NC_000017.11:7582298:A:C
Gene:: CD68 (Varview), MPDU1 (Varview), LOC100996842 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.7582299A>C, NC_000017.10:g.7485617A>C, NG_009204.1:g.3653A>C, NM_001322800.2:c.639T>G, NR_136401.2:n.408T>G, NR_136401.1:n.395T>G, NR_170996.1:n.906T>G, NM_001322800.1:c.639T>G

Select item 14893490063.

rs1489349006 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTG>- [Show Flanks]
Chromosome:: 17:7579177 (GRCh38)
17:7482495 (GRCh37)
Canonical SPDI:: NC_000017.11:7579174:TGCTG:TG
Gene:: CD68 (Varview), EIF4A1 (Varview), SENP3-EIF4A1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7579177_7579179del, NC_000017.10:g.7482495_7482497del, NG_009204.1:g.531_533del

Select item 14884609444.

rs1488460944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7578311 (GRCh38)
17:7481629 (GRCh37)
Canonical SPDI:: NC_000017.11:7578310:G:A
Gene:: CD68 (Varview), EIF4A1 (Varview), SNORA67 (Varview), SENP3-EIF4A1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_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_000017.11:g.7578311G>A, NC_000017.10:g.7481629G>A

Select item 14878025755.

rs1487802575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:7581774 (GRCh38)
17:7485092 (GRCh37)
Canonical SPDI:: NC_000017.11:7581773:C:G,NC_000017.11:7581773:C:T
Gene:: CD68 (Varview), MPDU1 (Varview), LOC100996842 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00103/3 (KOREAN)
HGVS:: NC_000017.11:g.7581774C>G, NC_000017.11:g.7581774C>T, NC_000017.10:g.7485092C>G, NC_000017.10:g.7485092C>T, NG_009204.1:g.3128C>G, NG_009204.1:g.3128C>T, NM_001251.3:c.*263C>G, NM_001251.3:c.*263C>T, NM_001251.2:c.*263C>G, NM_001251.2:c.*263C>T, NM_001040059.2:c.*263C>G, NM_001040059.2:c.*263C>T, NM_001040059.1:c.*263C>G, NM_001040059.1:c.*263C>T

Select item 14869401436.

rs1486940143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:7579302 (GRCh38)
17:7482620 (GRCh37)
Canonical SPDI:: NC_000017.11:7579301:G:A,NC_000017.11:7579301:G:C,NC_000017.11:7579301:G:T
Gene:: CD68 (Varview), EIF4A1 (Varview), SENP3-EIF4A1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00016/1 (1000Genomes)
HGVS:: NC_000017.11:g.7579302G>A, NC_000017.11:g.7579302G>C, NC_000017.11:g.7579302G>T, NC_000017.10:g.7482620G>A, NC_000017.10:g.7482620G>C, NC_000017.10:g.7482620G>T, NG_009204.1:g.656G>A, NG_009204.1:g.656G>C, NG_009204.1:g.656G>T

Select item 14866281247.

rs1486628124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7579521 (GRCh38)
17:7482839 (GRCh37)
Canonical SPDI:: NC_000017.11:7579520:G:A
Gene:: CD68 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.7579521G>A, NC_000017.10:g.7482839G>A, NG_009204.1:g.875G>A, NM_001251.2:c.-157G>A, NM_001040059.1:c.-157G>A

Select item 14855502238.

rs1485550223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:7582022 (GRCh38)
17:7485340 (GRCh37)
Canonical SPDI:: NC_000017.11:7582021:C:A,NC_000017.11:7582021:C:G,NC_000017.11:7582021:C:T
Gene:: CD68 (Varview), MPDU1 (Varview), LOC100996842 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.7582022C>A, NC_000017.11:g.7582022C>G, NC_000017.11:g.7582022C>T, NC_000017.10:g.7485340C>A, NC_000017.10:g.7485340C>G, NC_000017.10:g.7485340C>T, NG_009204.1:g.3376C>A, NG_009204.1:g.3376C>G, NG_009204.1:g.3376C>T, NM_001251.3:c.*511C>A, NM_001251.3:c.*511C>G, NM_001251.3:c.*511C>T, NM_001251.2:c.*511C>A, NM_001251.2:c.*511C>G, NM_001251.2:c.*511C>T, NM_001040059.2:c.*511C>A, NM_001040059.2:c.*511C>G, NM_001040059.2:c.*511C>T, NM_001040059.1:c.*511C>A, NM_001040059.1:c.*511C>G, NM_001040059.1:c.*511C>T, NM_001322800.2:c.*187G>T, NM_001322800.2:c.*187G>C, NM_001322800.2:c.*187G>A, NR_136401.2:n.685G>T, NR_136401.2:n.685G>C, NR_136401.2:n.685G>A, NR_136401.1:n.672G>T, NR_136401.1:n.672G>C, NR_136401.1:n.672G>A, NR_136402.2:n.317G>T, NR_136402.2:n.317G>C, NR_136402.2:n.317G>A, NR_136402.1:n.304G>T, NR_136402.1:n.304G>C, NR_136402.1:n.304G>A, NR_170996.1:n.1183G>T, NR_170996.1:n.1183G>C, NR_170996.1:n.1183G>A, NM_001322800.1:c.*187G>T, NM_001322800.1:c.*187G>C, NM_001322800.1:c.*187G>A, NR_136403.1:n.761G>T, NR_136403.1:n.761G>C, NR_136403.1:n.761G>A

Select item 14850596409.

rs1485059640 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:7579108 (GRCh38)
17:7482427 (GRCh37)
Canonical SPDI:: NC_000017.11:7579108:G:GG
Gene:: CD68 (Varview), EIF4A1 (Varview), SENP3-EIF4A1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7579109dup, NC_000017.10:g.7482427dup, NG_009204.1:g.463dup

Select item 148468605010.

rs1484686050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7579037 (GRCh38)
17:7482355 (GRCh37)
Canonical SPDI:: NC_000017.11:7579036:T:C
Gene:: CD68 (Varview), EIF4A1 (Varview), SENP3-EIF4A1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7579037T>C, NC_000017.10:g.7482355T>C, NG_009204.1:g.391T>C

Select item 148440221711.

rs1484402217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7580346 (GRCh38)
17:7483664 (GRCh37)
Canonical SPDI:: NC_000017.11:7580345:G:A
Gene:: CD68 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7580346G>A, NC_000017.10:g.7483664G>A, NG_009204.1:g.1700G>A

Select item 148397134912.

rs1483971349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7582428 (GRCh38)
17:7485746 (GRCh37)
Canonical SPDI:: NC_000017.11:7582427:A:G
Gene:: CD68 (Varview), MPDU1 (Varview), LOC100996842 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7582428A>G, NC_000017.10:g.7485746A>G, NG_009204.1:g.3782A>G, NM_001322800.2:c.510T>C, NR_136401.2:n.279T>C, NR_136401.1:n.266T>C, NR_170996.1:n.777T>C, NM_001322800.1:c.510T>C

Select item 148310196913.

rs1483101969 has merged into rs1183850077 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 17:7578617 (GRCh38)
17:7481935 (GRCh37)
Canonical SPDI:: NC_000017.11:7578613:TTTTT:TTT,NC_000017.11:7578613:TTTTT:TTTT
Gene:: CD68 (Varview), EIF4A1 (Varview), SENP3-EIF4A1 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.7578617_7578618del, NC_000017.11:g.7578618del, NC_000017.10:g.7481935_7481936del, NC_000017.10:g.7481936del, NM_001416.4:c.*131_*132del, NM_001416.4:c.*132del, NM_001416.3:c.*131_*132del, NM_001416.3:c.*132del, NM_001204510.2:c.*246_*247del, NM_001204510.2:c.*247del, NM_001204510.1:c.*246_*247del, NM_001204510.1:c.*247del, NR_037926.1:n.3914_3915del, NR_037926.1:n.3915del

Select item 148307078814.

rs1483070788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7579171 (GRCh38)
17:7482489 (GRCh37)
Canonical SPDI:: NC_000017.11:7579170:A:G
Gene:: CD68 (Varview), EIF4A1 (Varview), SENP3-EIF4A1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00023/61 (TOPMED)
G=0.000235/33 (GnomAD)
HGVS:: NC_000017.11:g.7579171A>G, NC_000017.10:g.7482489A>G, NG_009204.1:g.525A>G

Select item 148222685515.

rs1482226855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7580628 (GRCh38)
17:7483946 (GRCh37)
Canonical SPDI:: NC_000017.11:7580627:G:A
Gene:: CD68 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7580628G>A, NC_000017.10:g.7483946G>A, NG_009204.1:g.1982G>A

Select item 148208980716.

rs1482089807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7581121 (GRCh38)
17:7484439 (GRCh37)
Canonical SPDI:: NC_000017.11:7581120:C:T
Gene:: CD68 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7581121C>T, NC_000017.10:g.7484439C>T, NG_009204.1:g.2475C>T

Select item 148189412817.

rs1481894128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:7578833 (GRCh38)
17:7482151 (GRCh37)
Canonical SPDI:: NC_000017.11:7578832:C:A
Gene:: CD68 (Varview), EIF4A1 (Varview), SENP3-EIF4A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7578833C>A, NC_000017.10:g.7482151C>A, NG_009204.1:g.187C>A, NM_001416.4:c.*347C>A, NM_001416.3:c.*347C>A, NM_001204510.2:c.*462C>A, NM_001204510.1:c.*462C>A, NR_037926.1:n.4130C>A

Select item 148075871618.

rs1480758716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7581293 (GRCh38)
17:7484611 (GRCh37)
Canonical SPDI:: NC_000017.11:7581292:C:T
Gene:: CD68 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000038/10 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.7581293C>T, NC_000017.10:g.7484611C>T, NG_009204.1:g.2647C>T

Select item 148075094419.

rs1480750944 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:7577672 (GRCh38)
17:7480990 (GRCh37)
Canonical SPDI:: NC_000017.11:7577671:A:T
Gene:: CD68 (Varview), EIF4A1 (Varview), SNORA67 (Varview), SENP3-EIF4A1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7577672A>T, NC_000017.10:g.7480990A>T, NM_001416.4:c.872A>T, NM_001416.3:c.872A>T, NM_001204510.2:c.872A>T, NM_001204510.1:c.872A>T, NR_037926.1:n.3434A>T, NP_001407.1:p.Lys291Met, NP_001191439.1:p.Lys291Met

Select item 148065454420.

rs1480654544 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

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dbSNP

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