SNP Links for Gene (Select 27164) - SNP

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Select item 14915231831.

rs1491523183 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 18:78991382 (GRCh38)
18:76751383 (GRCh37)
Canonical SPDI:: NC_000018.10:78991382:T:TT
Gene:: SALL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.00004/2 (GnomAD)
T=0.00016/1 (1000Genomes)
HGVS:: NC_000018.10:g.78991383dup, NC_000018.9:g.76751383dup, NG_030353.1:g.16109dup, NT_187666.1:g.56498dup, NW_003315961.1:g.56498dup

Select item 14914678012.

rs1491467801 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C,T [Show Flanks]
Chromosome:: 18:78991387 (GRCh38)
18:76751388 (GRCh37)
Canonical SPDI:: NC_000018.10:78991387::A,NC_000018.10:78991387::C,NC_000018.10:78991387::T
Gene:: SALL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00019/2 (TOMMO)
HGVS:: NC_000018.10:g.78991387_78991388insA, NC_000018.10:g.78991387_78991388insC, NC_000018.10:g.78991387_78991388insT, NC_000018.9:g.76751387_76751388insA, NC_000018.9:g.76751387_76751388insC, NC_000018.9:g.76751387_76751388insT, NG_030353.1:g.16113_16114insA, NG_030353.1:g.16113_16114insC, NG_030353.1:g.16113_16114insT, NT_187666.1:g.56502_56503insA, NT_187666.1:g.56502_56503insC, NT_187666.1:g.56502_56503insT, NW_003315961.1:g.56504_56505insA, NW_003315961.1:g.56504_56505insC, NW_003315961.1:g.56504_56505insT

Select item 14913530513.

rs1491353051 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C [Show Flanks]
Chromosome:: 18:78978335 (GRCh38)
18:76738336 (GRCh37)
Canonical SPDI:: NC_000018.10:78978335::A,NC_000018.10:78978335::C
Gene:: SALL3 (Varview), LINC01896 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000018.10:g.78978335_78978336insA, NC_000018.10:g.78978335_78978336insC, NC_000018.9:g.76738335_76738336insA, NC_000018.9:g.76738335_76738336insC, NG_030353.1:g.3061_3062insA, NG_030353.1:g.3061_3062insC, NT_187666.1:g.43450_43451insA, NT_187666.1:g.43450_43451insC, NW_003315961.1:g.43450_43451insA, NW_003315961.1:g.43450_43451insC

Select item 14913279694.

rs1491327969 has merged into rs72117247 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 18:78991392 (GRCh38)
18:76751392 (GRCh37)
Canonical SPDI:: NC_000018.10:78991383:GGGGGGGGGGG:GGGGGGGG,NC_000018.10:78991383:GGGGGGGGGGG:GGGGGGGGG,NC_000018.10:78991383:GGGGGGGGGGG:GGGGGGGGGG,NC_000018.10:78991383:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000018.10:78991383:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000018.10:78991383:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000018.10:78991383:GGGGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: SALL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
GG=0.2624/1314 (1000Genomes)
HGVS:: NC_000018.10:g.78991392_78991394del, NC_000018.10:g.78991393_78991394del, NC_000018.10:g.78991394del, NC_000018.10:g.78991394dup, NC_000018.10:g.78991393_78991394dup, NC_000018.10:g.78991392_78991394dup, NC_000018.10:g.78991391_78991394dup, NC_000018.9:g.76751392_76751394del, NC_000018.9:g.76751393_76751394del, NC_000018.9:g.76751394del, NC_000018.9:g.76751394dup, NC_000018.9:g.76751393_76751394dup, NC_000018.9:g.76751392_76751394dup, NC_000018.9:g.76751391_76751394dup, NG_030353.1:g.16118_16120del, NG_030353.1:g.16119_16120del, NG_030353.1:g.16120del, NG_030353.1:g.16120dup, NG_030353.1:g.16119_16120dup, NG_030353.1:g.16118_16120dup, NG_030353.1:g.16117_16120dup, NT_187666.1:g.56507_56509del, NT_187666.1:g.56508_56509del, NT_187666.1:g.56509del, NT_187666.1:g.56509dup, NT_187666.1:g.56508_56509dup, NT_187666.1:g.56507_56509dup, NT_187666.1:g.56506_56509dup, NW_003315961.1:g.56509_56511del, NW_003315961.1:g.56510_56511del, NW_003315961.1:g.56511del, NW_003315961.1:g.56511dup, NW_003315961.1:g.56510_56511dup, NW_003315961.1:g.56509_56511dup, NW_003315961.1:g.56508_56511dup

Select item 14913230345.

rs1491323034 has merged into rs1365949703 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 18:78991383 (GRCh38)
18:76751383 (GRCh37)
Canonical SPDI:: NC_000018.10:78991381:GTG:G,NC_000018.10:78991381:GTG:GTGTG
Gene:: SALL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTG=0./0 (ALFA)
GT=0.0001/6 (GnomAD)
GT=0.00021/4 (TOMMO)
-=0.00671/4 (NorthernSweden)
HGVS:: NC_000018.10:g.78991383_78991384del, NC_000018.10:g.78991383_78991384dup, NC_000018.9:g.76751383_76751384del, NC_000018.9:g.76751383_76751384dup, NG_030353.1:g.16109_16110del, NG_030353.1:g.16109_16110dup, NT_187666.1:g.56498_56499del, NT_187666.1:g.56498_56499dup

Select item 14912787706.

rs1491278770 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 18:78978336 (GRCh38)
18:76738336 (GRCh37)
Canonical SPDI:: NC_000018.10:78978334:TGT:T
Gene:: SALL3 (Varview), LINC01896 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
-=0.00018/3 (TOMMO)
-=0.00078/5 (1000Genomes)
-=0.00119/99 (GnomAD)
HGVS:: NC_000018.10:g.78978336_78978337del, NC_000018.9:g.76738336_76738337del, NG_030353.1:g.3062_3063del, NT_187666.1:g.43451_43452del, NW_003315961.1:g.43451_43452del

Select item 14911168537.

rs1491116853 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 18:78991394 (GRCh38)
18:76751394 (GRCh37)
Canonical SPDI:: NC_000018.10:78991393:GA:
Gene:: SALL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000018.10:g.78991394_78991395del, NC_000018.9:g.76751394_76751395del, NG_030353.1:g.16120_16121del, NT_187666.1:g.56509_56510del, NW_003315961.1:g.56511_56512del

Select item 14910746728.

rs1491074672 has merged into rs4030880 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG,TGTGTGTG [Show Flanks]
Chromosome:: 18:78995710 (GRCh38)
18:76755710 (GRCh37)
Canonical SPDI:: NC_000018.10:78995702:GTGTGTGTGTG:GTGTGTG,NC_000018.10:78995702:GTGTGTGTGTG:GTGTGTGTG,NC_000018.10:78995702:GTGTGTGTGTG:GTGTGTGTGTGTG,NC_000018.10:78995702:GTGTGTGTGTG:GTGTGTGTGTGTGTG
Gene:: SALL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTG=0./0 (ALFA)
-=0./0 (NorthernSweden)
-=0.0078/29 (TWINSUK)
-=0.0109/42 (ALSPAC)
-=0.0198/99 (1000Genomes)
-=0.022/22 (GoNL)
HGVS:: NC_000018.10:g.78995704TG[3], NC_000018.10:g.78995704TG[4], NC_000018.10:g.78995704TG[6], NC_000018.10:g.78995704TG[7], NC_000018.9:g.76755704TG[3], NC_000018.9:g.76755704TG[4], NC_000018.9:g.76755704TG[6], NC_000018.9:g.76755704TG[7], NG_030353.1:g.20430TG[3], NG_030353.1:g.20430TG[4], NG_030353.1:g.20430TG[6], NG_030353.1:g.20430TG[7], NT_187666.1:g.60819TG[3], NT_187666.1:g.60819TG[4], NT_187666.1:g.60819TG[6], NT_187666.1:g.60819TG[7], NW_003315961.1:g.60821TG[4], NW_003315961.1:g.60821TG[5], NW_003315961.1:g.60821TG[7], NW_003315961.1:g.60821TG[8]

Select item 14910269439.

rs1491026943 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAG [Show Flanks]
Chromosome:: 18:78991393 (GRCh38)
18:76751394 (GRCh37)
Canonical SPDI:: NC_000018.10:78991393:G:GGAG
Gene:: SALL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGAG=0./0 (ALFA)
HGVS:: NC_000018.10:g.78991394_78991395insGAG, NC_000018.9:g.76751394_76751395insGAG, NG_030353.1:g.16120_16121insGAG, NT_187666.1:g.56509_56510insGAG, NW_003315961.1:g.56511_56512insGAG

Select item 149090971410.

rs1490909714 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:78988220 (GRCh38)
18:76748220 (GRCh37)
Canonical SPDI:: NC_000018.10:78988219:A:C
Gene:: SALL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
HGVS:: NC_000018.10:g.78988220A>C, NC_000018.9:g.76748220A>C, NG_030353.1:g.12946A>C, NT_187666.1:g.53335A>C, NW_003315961.1:g.53335A>C

Select item 149067595811.

rs1490675958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:78992520 (GRCh38)
18:76752520 (GRCh37)
Canonical SPDI:: NC_000018.10:78992519:G:T
Gene:: SALL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.78992520G>T, NC_000018.9:g.76752520G>T, NG_030353.1:g.17246G>T, NM_171999.3:c.529G>T, NM_171999.4:c.529G>T, NT_187666.1:g.57635G>T, NW_003315961.1:g.57637G>T, NP_741996.2:p.Ala177Ser

Select item 149060201112.

rs1490602011 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 18:78988982 (GRCh38)
18:76748983 (GRCh37)
Canonical SPDI:: NC_000018.10:78988982:AA:AAA
Gene:: SALL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0.000071/1 (ALFA)
A=0.000185/26 (GnomAD)
A=0.000212/56 (TOPMED)
HGVS:: NC_000018.10:g.78988984dup, NC_000018.9:g.76748984dup, NG_030353.1:g.13710dup, NT_187666.1:g.54099dup, NW_003315961.1:g.54099dup

Select item 149051583613.

rs1490515836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:78980628 (GRCh38)
18:76740628 (GRCh37)
Canonical SPDI:: NC_000018.10:78980627:C:A
Gene:: SALL3 (Varview), LINC01896 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_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_000018.10:g.78980628C>A, NC_000018.9:g.76740628C>A, NG_030353.1:g.5354C>A, NT_187666.1:g.45743C>A, NW_003315961.1:g.45743C>A

Select item 149044469014.

rs1490444690 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:78997289 (GRCh38)
18:76757289 (GRCh37)
Canonical SPDI:: NC_000018.10:78997288:T:A
Gene:: SALL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000389/7 (TOMMO)
HGVS:: NC_000018.10:g.78997289T>A, NC_000018.9:g.76757289T>A, NG_030353.1:g.22015T>A, NM_171999.3:c.3870T>A, NM_171999.4:c.3870T>A, NT_187666.1:g.62404T>A, NW_003315961.1:g.62408T>A, NP_741996.2:p.Phe1290Leu

Select item 149021483315.

rs1490214833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:78992238 (GRCh38)
18:76752238 (GRCh37)
Canonical SPDI:: NC_000018.10:78992237:C:G,NC_000018.10:78992237:C:T
Gene:: SALL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.78992238C>G, NC_000018.10:g.78992238C>T, NC_000018.9:g.76752238C>G, NC_000018.9:g.76752238C>T, NG_030353.1:g.16964C>G, NG_030353.1:g.16964C>T, NM_171999.3:c.247C>G, NM_171999.3:c.247C>T, NM_171999.4:c.247C>G, NM_171999.4:c.247C>T, NT_187666.1:g.57353C>G, NT_187666.1:g.57353C>T, NW_003315961.1:g.57355C>G, NW_003315961.1:g.57355C>T, NP_741996.2:p.His83Asp, NP_741996.2:p.His83Tyr

Select item 149018416016.

rs1490184160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 18:78992723 (GRCh38)
18:76752723 (GRCh37)
Canonical SPDI:: NC_000018.10:78992722:C:A,NC_000018.10:78992722:C:G,NC_000018.10:78992722:C:T
Gene:: SALL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.78992723C>A, NC_000018.10:g.78992723C>G, NC_000018.10:g.78992723C>T, NC_000018.9:g.76752723C>A, NC_000018.9:g.76752723C>G, NC_000018.9:g.76752723C>T, NG_030353.1:g.17449C>A, NG_030353.1:g.17449C>G, NG_030353.1:g.17449C>T, NM_171999.3:c.732C>A, NM_171999.3:c.732C>G, NM_171999.3:c.732C>T, NM_171999.4:c.732C>A, NM_171999.4:c.732C>G, NM_171999.4:c.732C>T, NT_187666.1:g.57838C>A, NT_187666.1:g.57838C>G, NT_187666.1:g.57838C>T, NW_003315961.1:g.57840C>A, NW_003315961.1:g.57840C>G, NW_003315961.1:g.57840C>T

Select item 149005466417.

rs1490054664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:78979089 (GRCh38)
18:76739089 (GRCh37)
Canonical SPDI:: NC_000018.10:78979088:G:C
Gene:: SALL3 (Varview), LINC01896 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.78979089G>C, NC_000018.9:g.76739089G>C, NG_030353.1:g.3815G>C, NT_187666.1:g.44204G>C, NW_003315961.1:g.44204G>C, XR_935681.3:n.894C>G, XR_952517.3:n.894C>G, XR_952162.3:n.894C>G

Select item 148989293618.

rs1489892936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:78978578 (GRCh38)
18:76738578 (GRCh37)
Canonical SPDI:: NC_000018.10:78978577:G:A
Gene:: SALL3 (Varview), LINC01896 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000018.10:g.78978578G>A, NC_000018.9:g.76738578G>A, NG_030353.1:g.3304G>A, NT_187666.1:g.43693G>A, NW_003315961.1:g.43693G>A, XR_935681.3:n.1405C>T, XR_935681.2:n.324C>T, XR_935681.1:n.201C>T, XR_952517.3:n.1405C>T, XR_952517.2:n.324C>T, XR_952517.1:n.201C>T, XR_952162.3:n.1405C>T, XR_952162.2:n.324C>T, XR_952162.1:n.201C>T

Select item 148985561919.

rs1489855619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:78992868 (GRCh38)
18:76752868 (GRCh37)
Canonical SPDI:: NC_000018.10:78992867:T:A
Gene:: SALL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000018.10:g.78992868T>A, NC_000018.9:g.76752868T>A, NG_030353.1:g.17594T>A, NM_171999.3:c.877T>A, NM_171999.4:c.877T>A, NT_187666.1:g.57983T>A, NW_003315961.1:g.57985T>A, NP_741996.2:p.Ser293Thr

Select item 148976393720.

rs1489763937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:78986260 (GRCh38)
18:76746260 (GRCh37)
Canonical SPDI:: NC_000018.10:78986259:G:C
Gene:: SALL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.78986260G>C, NC_000018.9:g.76746260G>C, NG_030353.1:g.10986G>C, NT_187666.1:g.51375G>C, NW_003315961.1:g.51375G>C

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