SNP Links for Gene (Select 9445) - SNP

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Select item 14915204921.

rs1491520492 has merged into rs201823693 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 13:48253978 (GRCh38)
13:48828114 (GRCh37)
Canonical SPDI:: NC_000013.11:48253966:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:48253966:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:48253966:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:48253966:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:48253966:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:48253966:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:48253966:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:48253966:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: ITM2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0.00027/6 (ALFA)
HGVS:: NC_000013.11:g.48253978_48253981del, NC_000013.11:g.48253979_48253981del, NC_000013.11:g.48253980_48253981del, NC_000013.11:g.48253981del, NC_000013.11:g.48253981dup, NC_000013.11:g.48253980_48253981dup, NC_000013.11:g.48253979_48253981dup, NC_000013.11:g.48253975_48253981dup, NC_000013.10:g.48828114_48828117del, NC_000013.10:g.48828115_48828117del, NC_000013.10:g.48828116_48828117del, NC_000013.10:g.48828117del, NC_000013.10:g.48828117dup, NC_000013.10:g.48828116_48828117dup, NC_000013.10:g.48828115_48828117dup, NC_000013.10:g.48828111_48828117dup, NG_013069.2:g.26367_26370del, NG_013069.2:g.26368_26370del, NG_013069.2:g.26369_26370del, NG_013069.2:g.26370del, NG_013069.2:g.26370dup, NG_013069.2:g.26369_26370dup, NG_013069.2:g.26368_26370dup, NG_013069.2:g.26364_26370dup

Select item 14914132942.

rs1491413294 has merged into rs1364488409 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCGCGCG>-,CGCGCG,CGCGCGCGCG,CGCGCGCGCGCG [Show Flanks]
Chromosome:: 13:48255256 (GRCh38)
13:48829392 (GRCh37)
Canonical SPDI:: NC_000013.11:48255254:GCGCGCGCG:G,NC_000013.11:48255254:GCGCGCGCG:GCGCGCG,NC_000013.11:48255254:GCGCGCGCG:GCGCGCGCGCG,NC_000013.11:48255254:GCGCGCGCG:GCGCGCGCGCGCG
Gene:: ITM2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCGCGCG=0./0 (ALFA)
GCGC=0.000004/1 (TOPMED)
GC=0.000283/5 (TOMMO)
GC=0.001092/2 (Korea1K)
HGVS:: NC_000013.11:g.48255256_48255263del, NC_000013.11:g.48255256CG[3], NC_000013.11:g.48255256CG[5], NC_000013.11:g.48255256CG[6], NC_000013.10:g.48829392_48829399del, NC_000013.10:g.48829392CG[3], NC_000013.10:g.48829392CG[5], NC_000013.10:g.48829392CG[6], NG_013069.2:g.27645_27652del, NG_013069.2:g.27645CG[3], NG_013069.2:g.27645CG[5], NG_013069.2:g.27645CG[6]

Select item 14913905213.

rs1491390521 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 13:48255230 (GRCh38)
13:48829366 (GRCh37)
Canonical SPDI:: NC_000013.11:48255229:AG:
Gene:: ITM2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/3 (GnomAD)
HGVS:: NC_000013.11:g.48255230_48255231del, NC_000013.10:g.48829366_48829367del, NG_013069.2:g.27619_27620del

Select item 14912242474.

rs1491224247 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGAGTGTA [Show Flanks]
Chromosome:: 13:48234339 (GRCh38)
13:48808476 (GRCh37)
Canonical SPDI:: NC_000013.11:48234339:TATGAGTGTA:TATGAGTGTATGAGTGTA
Gene:: ITM2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATGAGTGTATGAGTGTA=0./0 (ALFA)
HGVS:: NC_000013.11:g.48234342_48234349dup, NC_000013.10:g.48808478_48808485dup, NG_013069.2:g.6731_6738dup

Select item 14911167605.

rs1491116760 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 13:48255255 (GRCh38)
13:48829392 (GRCh37)
Canonical SPDI:: NC_000013.11:48255255:C:CAC
Gene:: ITM2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: CA=0.000007/1 (GnomAD)
CA=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.48255256_48255257insAC, NC_000013.10:g.48829392_48829393insAC, NG_013069.2:g.27645_27646insAC

Select item 14909990166.

rs1490999016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:48248441 (GRCh38)
13:48822577 (GRCh37)
Canonical SPDI:: NC_000013.11:48248440:T:A
Gene:: ITM2B (Varview)
Functional Consequence:: intron_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_000013.11:g.48248441T>A, NC_000013.10:g.48822577T>A, NG_013069.2:g.20830T>A

Select item 14908680397.

rs1490868039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 13:48233112 (GRCh38)
13:48807248 (GRCh37)
Canonical SPDI:: NC_000013.11:48233111:T:A,NC_000013.11:48233111:T:C,NC_000013.11:48233111:T:G
Gene:: ITM2B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00002/2 (GnomAD)
C=0.01187/33 (KOREAN)
HGVS:: NC_000013.11:g.48233112T>A, NC_000013.11:g.48233112T>C, NC_000013.11:g.48233112T>G, NC_000013.10:g.48807248T>A, NC_000013.10:g.48807248T>C, NC_000013.10:g.48807248T>G, NG_013069.2:g.5501T>A, NG_013069.2:g.5501T>C, NG_013069.2:g.5501T>G

Select item 14908349858.

rs1490834985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:48254627 (GRCh38)
13:48828763 (GRCh37)
Canonical SPDI:: NC_000013.11:48254626:C:T
Gene:: ITM2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48254627C>T, NC_000013.10:g.48828763C>T, NG_013069.2:g.27016C>T

Select item 14906864489.

rs1490686448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:48256741 (GRCh38)
13:48830877 (GRCh37)
Canonical SPDI:: NC_000013.11:48256740:T:A
Gene:: ITM2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.48256741T>A, NC_000013.10:g.48830877T>A, NG_013069.2:g.29130T>A

Select item 149065437310.

rs1490654373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:48255589 (GRCh38)
13:48829725 (GRCh37)
Canonical SPDI:: NC_000013.11:48255588:A:T
Gene:: ITM2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.48255589A>T, NC_000013.10:g.48829725A>T, NG_013069.2:g.27978A>T

Select item 149051985211.

rs1490519852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:48257276 (GRCh38)
13:48831412 (GRCh37)
Canonical SPDI:: NC_000013.11:48257275:C:A
Gene:: ITM2B (Varview)
Functional Consequence:: intron_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_000013.11:g.48257276C>A, NC_000013.10:g.48831412C>A, NG_013069.2:g.29665C>A

Select item 149032551212.

rs1490325512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:48258480 (GRCh38)
13:48832616 (GRCh37)
Canonical SPDI:: NC_000013.11:48258479:T:C
Gene:: ITM2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48258480T>C, NC_000013.10:g.48832616T>C, NG_013069.2:g.30869T>C

Select item 149028975913.

rs1490289759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 13:48258187 (GRCh38)
13:48832323 (GRCh37)
Canonical SPDI:: NC_000013.11:48258186:C:A,NC_000013.11:48258186:C:G
Gene:: ITM2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.48258187C>A, NC_000013.11:g.48258187C>G, NC_000013.10:g.48832323C>A, NC_000013.10:g.48832323C>G, NG_013069.2:g.30576C>A, NG_013069.2:g.30576C>G, NM_021999.5:c.515C>A, NM_021999.5:c.515C>G, NM_021999.4:c.515C>A, NM_021999.4:c.515C>G, NP_068839.1:p.Ser172Tyr, NP_068839.1:p.Ser172Cys

Select item 149024494714.

rs1490244947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:48241209 (GRCh38)
13:48815345 (GRCh37)
Canonical SPDI:: NC_000013.11:48241208:C:A
Gene:: ITM2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.48241209C>A, NC_000013.10:g.48815345C>A, NG_013069.2:g.13598C>A

Select item 149020986415.

rs1490209864 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGCG>- [Show Flanks]
Chromosome:: 13:48255252 (GRCh38)
13:48829388 (GRCh37)
Canonical SPDI:: NC_000013.11:48255250:GTGTGCG:G
Gene:: ITM2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000013.11:g.48255252_48255257del, NC_000013.10:g.48829388_48829393del, NG_013069.2:g.27641_27646del

Select item 149019451716.

rs1490194517 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:48256236 (GRCh38)
13:48830373 (GRCh37)
Canonical SPDI:: NC_000013.11:48256236::T
Gene:: ITM2B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.48256236_48256237insT, NC_000013.10:g.48830372_48830373insT, NG_013069.2:g.28625_28626insT, NM_021999.5:c.306_307insT, NM_021999.4:c.306_307insT, NP_068839.1:p.Pro103fs

Select item 148993410617.

rs1489934106 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:48240062 (GRCh38)
13:48814199 (GRCh37)
Canonical SPDI:: NC_000013.11:48240062:A:AA
Gene:: ITM2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000054/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000171/24 (GnomAD)
A=0.000223/1 (Estonian)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000013.11:g.48240063dup, NC_000013.10:g.48814199dup, NG_013069.2:g.12452dup

Select item 148988310218.

rs1489883102 [Homo sapiens]

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

Select item 148978822719.

rs1489788227 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:48234661 (GRCh38)
13:48808797 (GRCh37)
Canonical SPDI:: NC_000013.11:48234660:A:G
Gene:: ITM2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48234661A>G, NC_000013.10:g.48808797A>G, NG_013069.2:g.7050A>G

Select item 148969119020.

rs1489691190 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGTA [Show Flanks]
Chromosome:: 13:48256433 (GRCh38)
13:48830570 (GRCh37)
Canonical SPDI:: NC_000013.11:48256433::TGTA
Gene:: ITM2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTA=0.000071/1 (ALFA)
TGTA=0.000004/1 (GnomAD_exomes)
TGTA=0.000007/1 (GnomAD)
TGTA=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.48256433_48256434insTGTA, NC_000013.10:g.48830569_48830570insTGTA, NG_013069.2:g.28822_28823insTGTA

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