SNP Links for Gene (Select 100132004) - SNP

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Select item 14910674411.

rs1491067441 has merged into rs71498538 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:40757993 (GRCh38)
9:66711021 (GRCh37)
Canonical SPDI:: NC_000009.12:40757985:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000009.12:40757985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:40757985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:40757985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:40757985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:40757985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:40757985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:40757985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:40757985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:40757985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:40757985:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC100132004 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.402556/2016 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000009.12:g.40757993_40758001del, NC_000009.12:g.40757998_40758001del, NC_000009.12:g.40757999_40758001del, NC_000009.12:g.40758000_40758001del, NC_000009.12:g.40758001del, NC_000009.12:g.40758001dup, NC_000009.12:g.40758000_40758001dup, NC_000009.12:g.40757999_40758001dup, NC_000009.12:g.40757998_40758001dup, NC_000009.12:g.40757996_40758001dup, NC_000009.12:g.40757995_40758001dup, NC_000009.11:g.66711021_66711029del, NC_000009.11:g.66711026_66711029del, NC_000009.11:g.66711027_66711029del, NC_000009.11:g.66711028_66711029del, NC_000009.11:g.66711029del, NC_000009.11:g.66711029dup, NC_000009.11:g.66711028_66711029dup, NC_000009.11:g.66711027_66711029dup, NC_000009.11:g.66711026_66711029dup, NC_000009.11:g.66711024_66711029dup, NC_000009.11:g.66711023_66711029dup

Select item 14909839342.

rs1490983934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 9:40766549 (GRCh38)
9:66719577 (GRCh37)
Canonical SPDI:: NC_000009.12:40766548:G:A,NC_000009.12:40766548:G:C,NC_000009.12:40766548:G:T
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00021/4 (TOMMO)
C=0.00062/4 (1000Genomes)
C=0.00342/10 (KOREAN)
HGVS:: NC_000009.12:g.40766549G>A, NC_000009.12:g.40766549G>C, NC_000009.12:g.40766549G>T, NC_000009.11:g.66719577G>A, NC_000009.11:g.66719577G>C, NC_000009.11:g.66719577G>T

Select item 14909791723.

rs1490979172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:40766927 (GRCh38)
9:66719955 (GRCh37)
Canonical SPDI:: NC_000009.12:40766926:A:G
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.40766927A>G, NC_000009.11:g.66719955A>G

Select item 14908191774.

rs1490819177 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:40759788 (GRCh38)
9:66712816 (GRCh37)
Canonical SPDI:: NC_000009.12:40759787:T:A
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00017/2 (ALFA)
A=0.00069/11 (TOMMO)
A=0.00076/2 (KOREAN)
A=0.00082/16 (GnomAD)
A=0.00151/2 (Korea1K)
HGVS:: NC_000009.12:g.40759788T>A, NC_000009.11:g.66712816T>A, NG_043061.1:g.19A>T

Select item 14907756785.

rs1490775678 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 9:40767642 (GRCh38)
9:66720670 (GRCh37)
Canonical SPDI:: NC_000009.12:40767641:CC:C
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0.0011/5 (ALFA)
HGVS:: NC_000009.12:g.40767643del, NC_000009.11:g.66720671del

Select item 14905493366.

rs1490549336 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 9:40760667 (GRCh38)
9:66713695 (GRCh37)
Canonical SPDI:: NC_000009.12:40760666:T:
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000009.12:g.40760667del, NC_000009.11:g.66713695del

Select item 14904921197.

rs1490492119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:40767160 (GRCh38)
9:66720188 (GRCh37)
Canonical SPDI:: NC_000009.12:40767159:A:C
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000025/3 (GnomAD)
C=0.000042/11 (TOPMED)
C=0.001638/3 (Korea1K)
C=0.002406/40 (TOMMO)
C=0.004795/14 (KOREAN)
HGVS:: NC_000009.12:g.40767160A>C, NC_000009.11:g.66720188A>C

Select item 14902841718.

rs1490284171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:40767036 (GRCh38)
9:66720064 (GRCh37)
Canonical SPDI:: NC_000009.12:40767035:C:A
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000015/2 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000009.12:g.40767036C>A, NC_000009.11:g.66720064C>A

Select item 14900482959.

rs1490048295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:40760868 (GRCh38)
9:66713896 (GRCh37)
Canonical SPDI:: NC_000009.12:40760867:C:G,NC_000009.12:40760867:C:T
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.40760868C>G, NC_000009.12:g.40760868C>T, NC_000009.11:g.66713896C>G, NC_000009.11:g.66713896C>T

Select item 149000519910.

rs1490005199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 9:40766891 (GRCh38)
9:66719919 (GRCh37)
Canonical SPDI:: NC_000009.12:40766890:C:A,NC_000009.12:40766890:C:G
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000009.12:g.40766891C>A, NC_000009.12:g.40766891C>G, NC_000009.11:g.66719919C>A, NC_000009.11:g.66719919C>G

Select item 148985395911.

rs1489853959 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 9:40767651 (GRCh38)
9:66720679 (GRCh37)
Canonical SPDI:: NC_000009.12:40767650:GGGGGG:GGGGG,NC_000009.12:40767650:GGGGGG:GGGGGGG
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000023/3 (GnomAD)
HGVS:: NC_000009.12:g.40767656del, NC_000009.12:g.40767656dup, NC_000009.11:g.66720684del, NC_000009.11:g.66720684dup

Select item 148979291612.

rs1489792916 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:40766739 (GRCh38)
9:66719767 (GRCh37)
Canonical SPDI:: NC_000009.12:40766738:T:A,NC_000009.12:40766738:T:C
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.001446/153 (GnomAD)
A=0.003123/20 (1000Genomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000009.12:g.40766739T>A, NC_000009.12:g.40766739T>C, NC_000009.11:g.66719767T>A, NC_000009.11:g.66719767T>C

Select item 148940147213.

rs1489401472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:40759874 (GRCh38)
9:66712902 (GRCh37)
Canonical SPDI:: NC_000009.12:40759873:A:T
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00004/2 (GnomAD)
HGVS:: NC_000009.12:g.40759874A>T, NC_000009.11:g.66712902A>T

Select item 148931934314.

rs1489319343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:40761199 (GRCh38)
9:66714227 (GRCh37)
Canonical SPDI:: NC_000009.12:40761198:G:T
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.40761199G>T, NC_000009.11:g.66714227G>T

Select item 148927804915.

rs1489278049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:40767450 (GRCh38)
9:66720478 (GRCh37)
Canonical SPDI:: NC_000009.12:40767449:A:C
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.40767450A>C, NC_000009.11:g.66720478A>C

Select item 148922565616.

rs1489225656 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:40768125 (GRCh38)
9:66721153 (GRCh37)
Canonical SPDI:: NC_000009.12:40768124:T:C
Gene:: LOC100132004 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.40768125T>C, NC_000009.11:g.66721153T>C, XR_001746457.2:n.161A>G, XR_001746457.1:n.166A>G, XR_007061504.1:n.161A>G

Select item 148919421517.

rs1489194215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:40767753 (GRCh38)
9:66720781 (GRCh37)
Canonical SPDI:: NC_000009.12:40767752:C:A,NC_000009.12:40767752:C:G,NC_000009.12:40767752:C:T
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.40767753C>A, NC_000009.12:g.40767753C>G, NC_000009.12:g.40767753C>T, NC_000009.11:g.66720781C>A, NC_000009.11:g.66720781C>G, NC_000009.11:g.66720781C>T

Select item 148901191118.

rs1489011911 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:40761911 (GRCh38)
9:66714939 (GRCh37)
Canonical SPDI:: NC_000009.12:40761910:A:G
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.40761911A>G, NC_000009.11:g.66714939A>G

Select item 148900374419.

rs1489003744 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 9:40762379 (GRCh38)
9:66715407 (GRCh37)
Canonical SPDI:: NC_000009.12:40762378:TTTTTT:TTTTT,NC_000009.12:40762378:TTTTTT:TTTTTTT
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.40762384del, NC_000009.12:g.40762384dup, NC_000009.11:g.66715412del, NC_000009.11:g.66715412dup

Select item 148883098120.

rs1488830981 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:40766326 (GRCh38)
9:66719354 (GRCh37)
Canonical SPDI:: NC_000009.12:40766325:A:G
Gene:: LOC100132004 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000135/19 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000009.12:g.40766326A>G, NC_000009.11:g.66719354A>G

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