SNP Links for Gene (Select 100289561) - SNP

Links from Gene

Items: 1 to 20 of 3568

<< First< Prev

Page of 179

Next >Last >>

Select item 14914845291.

rs1491484529 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:102369156 (GRCh38)
7:102009603 (GRCh37)
Canonical SPDI:: NC_000007.14:102369154:TGT:T
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.102369156_102369157del, NC_000007.13:g.102009603_102009604del, NW_003571037.1:g.293486_293487del

Select item 14914405902.

rs1491440590 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC [Show Flanks]
Chromosome:: 7:102369155 (GRCh38)
7:102009603 (GRCh37)
Canonical SPDI:: NC_000007.14:102369155::AC
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
AC=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102369155_102369156insAC, NC_000007.13:g.102009602_102009603insAC, NW_003571037.1:g.293485_293486insAC

Select item 14910571893.

rs1491057189 has merged into rs3988093 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 7:102362338 (GRCh38)
7:102002783 (GRCh37)
Canonical SPDI:: NC_000007.14:102362326:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000007.14:102362326:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000007.14:102362326:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000007.14:102362326:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000007.14:102362326:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000007.14:102362326:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000007.14:102362326:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000007.14:102362326:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000007.14:102362326:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCT=0./0 (ALFA)
HGVS:: NC_000007.14:g.102362328CT[5], NC_000007.14:g.102362328CT[6], NC_000007.14:g.102362328CT[7], NC_000007.14:g.102362328CT[8], NC_000007.14:g.102362328CT[9], NC_000007.14:g.102362328CT[11], NC_000007.14:g.102362328CT[12], NC_000007.14:g.102362328CT[13], NC_000007.14:g.102362328CT[14], NW_003571037.1:g.286658CT[5], NW_003571037.1:g.286658CT[6], NW_003571037.1:g.286658CT[7], NW_003571037.1:g.286658CT[8], NW_003571037.1:g.286658CT[9], NW_003571037.1:g.286658CT[11], NW_003571037.1:g.286658CT[12], NW_003571037.1:g.286658CT[13], NW_003571037.1:g.286658CT[14], NC_000007.13:g.102002773CT[6], NC_000007.13:g.102002773CT[7], NC_000007.13:g.102002773CT[8], NC_000007.13:g.102002773CT[9], NC_000007.13:g.102002773CT[10], NC_000007.13:g.102002773CT[12], NC_000007.13:g.102002773CT[13], NC_000007.13:g.102002773CT[14], NC_000007.13:g.102002773CT[15]

Select item 14910195194.

rs1491019519 has merged into rs138570024 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:102373223 (GRCh38)
7:102013670 (GRCh37)
Canonical SPDI:: NC_000007.14:102373211:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:102373211:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:102373211:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:102373211:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:102373211:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:102373211:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:102373211:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:102373211:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102373211:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1352/677 (1000Genomes)
HGVS:: NC_000007.14:g.102373223_102373227del, NC_000007.14:g.102373226_102373227del, NC_000007.14:g.102373227del, NC_000007.14:g.102373227dup, NC_000007.14:g.102373226_102373227dup, NC_000007.14:g.102373225_102373227dup, NC_000007.14:g.102373224_102373227dup, NC_000007.14:g.102373222_102373227dup, NC_000007.14:g.102373215_102373227dup, NC_000007.13:g.102013670_102013674del, NC_000007.13:g.102013673_102013674del, NC_000007.13:g.102013674del, NC_000007.13:g.102013674dup, NC_000007.13:g.102013673_102013674dup, NC_000007.13:g.102013672_102013674dup, NC_000007.13:g.102013671_102013674dup, NC_000007.13:g.102013669_102013674dup, NC_000007.13:g.102013662_102013674dup, NW_003571037.1:g.297553_297557del, NW_003571037.1:g.297556_297557del, NW_003571037.1:g.297557del, NW_003571037.1:g.297557dup, NW_003571037.1:g.297556_297557dup, NW_003571037.1:g.297555_297557dup, NW_003571037.1:g.297554_297557dup, NW_003571037.1:g.297552_297557dup, NW_003571037.1:g.297545_297557dup

Select item 14909817545.

rs1490981754 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:102380912 (GRCh38)
7:102021360 (GRCh37)
Canonical SPDI:: NC_000007.14:102380912::G
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102380912_102380913insG, NC_000007.13:g.102021359_102021360insG, NW_003571037.1:g.305242_305243insG

Select item 14909020066.

rs1490902006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:102364938 (GRCh38)
7:102005385 (GRCh37)
Canonical SPDI:: NC_000007.14:102364937:G:C
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_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_000007.14:g.102364938G>C, NW_003571037.1:g.289268G>C, NC_000007.13:g.102005385G>C

Select item 14908469437.

rs1490846943 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:102365945 (GRCh38)
7:102006392 (GRCh37)
Canonical SPDI:: NC_000007.14:102365944:T:G
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
G=0.000342/1 (KOREAN)
G=0.00637/107 (TOMMO)
HGVS:: NC_000007.14:g.102365945T>G, NW_003571037.1:g.290275T>G, NC_000007.13:g.102006392T>G

Select item 14906415238.

rs1490641523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:102372119 (GRCh38)
7:102012566 (GRCh37)
Canonical SPDI:: NC_000007.14:102372118:T:C
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_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_000007.14:g.102372119T>C, NC_000007.13:g.102012566T>C, NW_003571037.1:g.296449T>C

Select item 14906308549.

rs1490630854 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAA>- [Show Flanks]
Chromosome:: 7:102373150 (GRCh38)
7:102013597 (GRCh37)
Canonical SPDI:: NC_000007.14:102373148:ATAAA:A
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.102373150_102373153del, NC_000007.13:g.102013597_102013600del, NW_003571037.1:g.297480_297483del

Select item 149041301910.

rs1490413019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:102364526 (GRCh38)
7:102004973 (GRCh37)
Canonical SPDI:: NC_000007.14:102364525:T:C,NC_000007.14:102364525:T:G
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.102364526T>C, NC_000007.14:g.102364526T>G, NW_003571037.1:g.288856T>C, NW_003571037.1:g.288856T>G, NC_000007.13:g.102004973T>C, NC_000007.13:g.102004973T>G

Select item 149035122511.

rs1490351225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:102379513 (GRCh38)
7:102019960 (GRCh37)
Canonical SPDI:: NC_000007.14:102379512:T:G
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.102379513T>G, NC_000007.13:g.102019960T>G, NW_003571037.1:g.303843T>G

Select item 149030001812.

rs1490300018 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:102363837 (GRCh38)
7:102004284 (GRCh37)
Canonical SPDI:: NC_000007.14:102363836:C:A,NC_000007.14:102363836:C:T
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.102363837C>A, NC_000007.14:g.102363837C>T, NW_003571037.1:g.288167C>A, NW_003571037.1:g.288167C>T, NC_000007.13:g.102004284C>A, NC_000007.13:g.102004284C>T, NM_001242713.2:c.-663C>A, NM_001242713.2:c.-663C>T, NM_001347879.1:c.-682C>A, NM_001347879.1:c.-682C>T, NM_001347880.1:c.-414C>A, NM_001347880.1:c.-414C>T

Select item 149018103913.

rs1490181039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:102371580 (GRCh38)
7:102012027 (GRCh37)
Canonical SPDI:: NC_000007.14:102371579:T:G
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000007.14:g.102371580T>G, NC_000007.13:g.102012027T>G, NW_003571037.1:g.295910T>G

Select item 149013097014.

rs1490130970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:102372638 (GRCh38)
7:102013085 (GRCh37)
Canonical SPDI:: NC_000007.14:102372637:T:C
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_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_000007.14:g.102372638T>C, NC_000007.13:g.102013085T>C, NW_003571037.1:g.296968T>C

Select item 149011534915.

rs1490115349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102372718 (GRCh38)
7:102013165 (GRCh37)
Canonical SPDI:: NC_000007.14:102372717:A:G
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102372718A>G, NC_000007.13:g.102013165A>G, NW_003571037.1:g.297048A>G

Select item 148992354516.

rs1489923545 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102364204 (GRCh38)
7:102004651 (GRCh37)
Canonical SPDI:: NC_000007.14:102364203:A:G
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.102364204A>G, NW_003571037.1:g.288534A>G, NC_000007.13:g.102004651A>G, NM_001242713.3:c.-296A>G, NM_001242713.2:c.-296A>G, NM_001347879.2:c.-315A>G, NM_001347880.2:c.-47A>G, NR_038967.1:n.344A>G, NM_001347879.1:c.-315A>G, NM_001242713.1:c.-296A>G, NR_171051.1:n.322A>G, NR_171049.1:n.322A>G, NM_001347880.1:c.-47A>G, NR_171050.1:n.322A>G

Select item 148986021317.

rs1489860213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102379061 (GRCh38)
7:102019508 (GRCh37)
Canonical SPDI:: NC_000007.14:102379060:A:G
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.102379061A>G, NC_000007.13:g.102019508A>G, NW_003571037.1:g.303391A>G

Select item 148981194218.

rs1489811942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:102363402 (GRCh38)
7:102003849 (GRCh37)
Canonical SPDI:: NC_000007.14:102363401:T:C,NC_000007.14:102363401:T:G
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00005/1 (ALFA)
HGVS:: NC_000007.14:g.102363402T>C, NC_000007.14:g.102363402T>G, NW_003571037.1:g.287732T>C, NW_003571037.1:g.287732T>G, NC_000007.13:g.102003849T>C, NC_000007.13:g.102003849T>G

Select item 148978604119.

rs1489786041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:102367050 (GRCh38)
7:102007497 (GRCh37)
Canonical SPDI:: NC_000007.14:102367049:C:G
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000034/9 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000007.14:g.102367050C>G, NC_000007.13:g.102007497C>G, NW_003571037.1:g.291380C>G

Select item 148963391320.

rs1489633913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:102368086 (GRCh38)
7:102008533 (GRCh37)
Canonical SPDI:: NC_000007.14:102368085:T:C
Gene:: LOC100289561 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000285/4 (ALFA)
C=0.000093/13 (GnomAD)
C=0.000125/33 (TOPMED)
HGVS:: NC_000007.14:g.102368086T>C, NC_000007.13:g.102008533T>C, NW_003571037.1:g.292416T>C

<< First< Prev

Page of 179

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 3568

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity