SNP Links for Gene (Select 105371936) - SNP

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Select item 14914401581.

rs1491440158 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:62342286 (GRCh38)
17:60419648 (GRCh37)
Canonical SPDI:: NC_000017.11:62342286:G:GG
Gene:: LOC105371936 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000058/6 (GnomAD)
HGVS:: NC_000017.11:g.62342287dup, NC_000017.10:g.60419648dup

Select item 14914347472.

rs1491434747 has merged into rs35022195 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTT [Show Flanks]
Chromosome:: 17:62346684 (GRCh38)
17:60424045 (GRCh37)
Canonical SPDI:: NC_000017.11:62346673:TTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:62346673:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:62346673:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:62346673:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:62346673:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:62346673:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: LOC105371936 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0.0001/1 (ALFA)
-=0.1234/396 (1000Genomes)
HGVS:: NC_000017.11:g.62346684_62346685del, NC_000017.11:g.62346685del, NC_000017.11:g.62346685dup, NC_000017.11:g.62346684_62346685dup, NC_000017.11:g.62346683_62346685dup, NC_000017.11:g.62346681_62346685dup, NC_000017.10:g.60424045_60424046del, NC_000017.10:g.60424046del, NC_000017.10:g.60424046dup, NC_000017.10:g.60424045_60424046dup, NC_000017.10:g.60424044_60424046dup, NC_000017.10:g.60424042_60424046dup

Select item 14911541623.

rs1491154162 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:62342287 (GRCh38)
17:60419648 (GRCh37)
Canonical SPDI:: NC_000017.11:62342285:TGT:T
Gene:: LOC105371936 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00025/3 (ALFA)
-=0.00007/1 (TOMMO)
-=0.00052/52 (GnomAD)
-=0.01213/22 (Korea1K)
HGVS:: NC_000017.11:g.62342287_62342288del, NC_000017.10:g.60419648_60419649del

Select item 14907603074.

rs1490760307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:62354041 (GRCh38)
17:60431402 (GRCh37)
Canonical SPDI:: NC_000017.11:62354040:T:G
Gene:: LOC105371936 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.62354041T>G, NC_000017.10:g.60431402T>G

Select item 14905292635.

rs1490529263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:62346169 (GRCh38)
17:60423530 (GRCh37)
Canonical SPDI:: NC_000017.11:62346168:C:T
Gene:: LOC105371936 (Varview)
Functional Consequence:: intron_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.62346169C>T, NC_000017.10:g.60423530C>T

Select item 14903728606.

rs1490372860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:62350530 (GRCh38)
17:60427891 (GRCh37)
Canonical SPDI:: NC_000017.11:62350529:C:T
Gene:: LOC105371936 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.62350530C>T, NC_000017.10:g.60427891C>T

Select item 14902693847.

rs1490269384 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:62353559 (GRCh38)
17:60430920 (GRCh37)
Canonical SPDI:: NC_000017.11:62353558:T:C
Gene:: LOC105371936 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.62353559T>C, NC_000017.10:g.60430920T>C

Select item 14900398188.

rs1490039818 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:62345685 (GRCh38)
17:60423046 (GRCh37)
Canonical SPDI:: NC_000017.11:62345684:TT:T
Gene:: LOC105371936 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.62345686del, NC_000017.10:g.60423047del

Select item 14900296799.

rs1490029679 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:62346076 (GRCh38)
17:60423437 (GRCh37)
Canonical SPDI:: NC_000017.11:62346075:T:C
Gene:: LOC105371936 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.62346076T>C, NC_000017.10:g.60423437T>C

Select item 148977993410.

rs1489779934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:62353159 (GRCh38)
17:60430520 (GRCh37)
Canonical SPDI:: NC_000017.11:62353158:G:A
Gene:: LOC105371936 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.62353159G>A, NC_000017.10:g.60430520G>A

Select item 148975565811.

rs1489755658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:62344662 (GRCh38)
17:60422023 (GRCh37)
Canonical SPDI:: NC_000017.11:62344661:G:T
Gene:: LOC105371936 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000142/2 (TOMMO)
T=0.000156/1 (1000Genomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.62344662G>T, NC_000017.10:g.60422023G>T

Select item 148903285312.

rs1489032853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:62349280 (GRCh38)
17:60426641 (GRCh37)
Canonical SPDI:: NC_000017.11:62349279:T:G
Gene:: LOC105371936 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.62349280T>G, NC_000017.10:g.60426641T>G

Select item 148899277713.

rs1488992777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:62352851 (GRCh38)
17:60430212 (GRCh37)
Canonical SPDI:: NC_000017.11:62352850:T:A
Gene:: LOC105371936 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.62352851T>A, NC_000017.10:g.60430212T>A

Select item 148863744314.

rs1488637443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:62348143 (GRCh38)
17:60425504 (GRCh37)
Canonical SPDI:: NC_000017.11:62348142:C:T
Gene:: LOC105371936 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.62348143C>T, NC_000017.10:g.60425504C>T

Select item 148804704715.

rs1488047047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:62348297 (GRCh38)
17:60425658 (GRCh37)
Canonical SPDI:: NC_000017.11:62348296:A:T
Gene:: LOC105371936 (Varview)
Functional Consequence:: intron_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.62348297A>T, NC_000017.10:g.60425658A>T

Select item 148801007416.

rs1488010074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:62351682 (GRCh38)
17:60429043 (GRCh37)
Canonical SPDI:: NC_000017.11:62351681:G:A,NC_000017.11:62351681:G:C
Gene:: LOC105371936 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.62351682G>A, NC_000017.11:g.62351682G>C, NC_000017.10:g.60429043G>A, NC_000017.10:g.60429043G>C

Select item 148800017617.

rs1488000176 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:62347335 (GRCh38)
17:60424696 (GRCh37)
Canonical SPDI:: NC_000017.11:62347334:A:G
Gene:: LOC105371936 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000684/2 (KOREAN)
HGVS:: NC_000017.11:g.62347335A>G, NC_000017.10:g.60424696A>G

Select item 148769794518.

rs1487697945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:62354235 (GRCh38)
17:60431596 (GRCh37)
Canonical SPDI:: NC_000017.11:62354234:T:C
Gene:: LOC105371936 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.62354235T>C, NC_000017.10:g.60431596T>C

Select item 148751739419.

rs1487517394 [Homo sapiens]

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

Select item 148707315920.

rs1487073159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:62348104 (GRCh38)
17:60425465 (GRCh37)
Canonical SPDI:: NC_000017.11:62348103:C:T
Gene:: LOC105371936 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.62348104C>T, NC_000017.10:g.60425465C>T

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