SNP Links for Gene (Select 125972) - SNP

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Select item 14915759331.

rs1491575933 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:16486619 (GRCh38)
19:16597430 (GRCh37)
Canonical SPDI:: NC_000019.10:16486618:CA:
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00826/98 (ALFA)
HGVS:: NC_000019.10:g.16486619_16486620del, NC_000019.9:g.16597430_16597431del, NG_031959.2:g.146585_146586del, NG_080758.1:g.102_103del

Select item 14915022712.

rs1491502271 has merged into rs57877938 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:16495567 (GRCh38)
19:16606378 (GRCh37)
Canonical SPDI:: NC_000019.10:16495558:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:16495558:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:16495558:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:16495558:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:16495558:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:16495558:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:16495558:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:16495558:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:16495558:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:16495558:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:16495558:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16495558:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16495558:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16495558:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16495558:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C19orf44 (Varview), CALR3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AAA=0.0593/297 (1000Genomes)
HGVS:: NC_000019.10:g.16495567_16495579del, NC_000019.10:g.16495570_16495579del, NC_000019.10:g.16495572_16495579del, NC_000019.10:g.16495573_16495579del, NC_000019.10:g.16495574_16495579del, NC_000019.10:g.16495575_16495579del, NC_000019.10:g.16495576_16495579del, NC_000019.10:g.16495577_16495579del, NC_000019.10:g.16495578_16495579del, NC_000019.10:g.16495579del, NC_000019.10:g.16495579dup, NC_000019.10:g.16495578_16495579dup, NC_000019.10:g.16495577_16495579dup, NC_000019.10:g.16495576_16495579dup, NC_000019.10:g.16495575_16495579dup, NC_000019.9:g.16606378_16606390del, NC_000019.9:g.16606381_16606390del, NC_000019.9:g.16606383_16606390del, NC_000019.9:g.16606384_16606390del, NC_000019.9:g.16606385_16606390del, NC_000019.9:g.16606386_16606390del, NC_000019.9:g.16606387_16606390del, NC_000019.9:g.16606388_16606390del, NC_000019.9:g.16606389_16606390del, NC_000019.9:g.16606390del, NC_000019.9:g.16606390dup, NC_000019.9:g.16606389_16606390dup, NC_000019.9:g.16606388_16606390dup, NC_000019.9:g.16606387_16606390dup, NC_000019.9:g.16606386_16606390dup, NG_031959.2:g.137634_137646del, NG_031959.2:g.137637_137646del, NG_031959.2:g.137639_137646del, NG_031959.2:g.137640_137646del, NG_031959.2:g.137641_137646del, NG_031959.2:g.137642_137646del, NG_031959.2:g.137643_137646del, NG_031959.2:g.137644_137646del, NG_031959.2:g.137645_137646del, NG_031959.2:g.137646del, NG_031959.2:g.137646dup, NG_031959.2:g.137645_137646dup, NG_031959.2:g.137644_137646dup, NG_031959.2:g.137643_137646dup, NG_031959.2:g.137642_137646dup

Select item 14914574923.

rs1491457492 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:16492861 (GRCh38)
19:16603672 (GRCh37)
Canonical SPDI:: NC_000019.10:16492860:CA:
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000019.10:g.16492861_16492862del, NC_000019.9:g.16603672_16603673del, NG_031959.2:g.140343_140344del

Select item 14914206384.

rs1491420638 has merged into rs57759885 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:16480214 (GRCh38)
19:16591025 (GRCh37)
Canonical SPDI:: NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16480200:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.411/1584 (ALSPAC)
HGVS:: NC_000019.10:g.16480214_16480224del, NC_000019.10:g.16480215_16480224del, NC_000019.10:g.16480216_16480224del, NC_000019.10:g.16480217_16480224del, NC_000019.10:g.16480218_16480224del, NC_000019.10:g.16480219_16480224del, NC_000019.10:g.16480220_16480224del, NC_000019.10:g.16480221_16480224del, NC_000019.10:g.16480222_16480224del, NC_000019.10:g.16480223_16480224del, NC_000019.10:g.16480224del, NC_000019.10:g.16480224dup, NC_000019.10:g.16480223_16480224dup, NC_000019.10:g.16480222_16480224dup, NC_000019.10:g.16480221_16480224dup, NC_000019.10:g.16480220_16480224dup, NC_000019.10:g.16480217_16480224dup, NC_000019.9:g.16591025_16591035del, NC_000019.9:g.16591026_16591035del, NC_000019.9:g.16591027_16591035del, NC_000019.9:g.16591028_16591035del, NC_000019.9:g.16591029_16591035del, NC_000019.9:g.16591030_16591035del, NC_000019.9:g.16591031_16591035del, NC_000019.9:g.16591032_16591035del, NC_000019.9:g.16591033_16591035del, NC_000019.9:g.16591034_16591035del, NC_000019.9:g.16591035del, NC_000019.9:g.16591035dup, NC_000019.9:g.16591034_16591035dup, NC_000019.9:g.16591033_16591035dup, NC_000019.9:g.16591032_16591035dup, NC_000019.9:g.16591031_16591035dup, NC_000019.9:g.16591028_16591035dup, NG_031959.2:g.152994_153004del, NG_031959.2:g.152995_153004del, NG_031959.2:g.152996_153004del, NG_031959.2:g.152997_153004del, NG_031959.2:g.152998_153004del, NG_031959.2:g.152999_153004del, NG_031959.2:g.153000_153004del, NG_031959.2:g.153001_153004del, NG_031959.2:g.153002_153004del, NG_031959.2:g.153003_153004del, NG_031959.2:g.153004del, NG_031959.2:g.153004dup, NG_031959.2:g.153003_153004dup, NG_031959.2:g.153002_153004dup, NG_031959.2:g.153001_153004dup, NG_031959.2:g.153000_153004dup, NG_031959.2:g.152997_153004dup

Select item 14913362395.

rs1491336239 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:16480200 (GRCh38)
19:16591011 (GRCh37)
Canonical SPDI:: NC_000019.10:16480199:CA:
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.16480200_16480201del, NC_000019.9:g.16591011_16591012del, NG_031959.2:g.153004_153005del

Select item 14913269856.

rs1491326985 has merged into rs59111886 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 19:16486632 (GRCh38)
19:16597443 (GRCh37)
Canonical SPDI:: NC_000019.10:16486619:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:16486619:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:16486619:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:16486619:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:16486619:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:16486619:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:16486619:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16486619:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.3524/1765 (1000Genomes)
HGVS:: NC_000019.10:g.16486632_16486638del, NC_000019.10:g.16486635_16486638del, NC_000019.10:g.16486636_16486638del, NC_000019.10:g.16486637_16486638del, NC_000019.10:g.16486638del, NC_000019.10:g.16486638dup, NC_000019.10:g.16486637_16486638dup, NC_000019.10:g.16486636_16486638dup, NC_000019.9:g.16597443_16597449del, NC_000019.9:g.16597446_16597449del, NC_000019.9:g.16597447_16597449del, NC_000019.9:g.16597448_16597449del, NC_000019.9:g.16597449del, NC_000019.9:g.16597449dup, NC_000019.9:g.16597448_16597449dup, NC_000019.9:g.16597447_16597449dup, NG_031959.2:g.146579_146585del, NG_031959.2:g.146582_146585del, NG_031959.2:g.146583_146585del, NG_031959.2:g.146584_146585del, NG_031959.2:g.146585del, NG_031959.2:g.146585dup, NG_031959.2:g.146584_146585dup, NG_031959.2:g.146583_146585dup, NG_080758.1:g.115_121del, NG_080758.1:g.118_121del, NG_080758.1:g.119_121del, NG_080758.1:g.120_121del, NG_080758.1:g.121del, NG_080758.1:g.121dup, NG_080758.1:g.120_121dup, NG_080758.1:g.119_121dup

Select item 14912956197.

rs1491295619 has merged into rs71178700 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:16492875 (GRCh38)
19:16603686 (GRCh37)
Canonical SPDI:: NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4157/2082 (1000Genomes)
HGVS:: NC_000019.10:g.16492875_16492880del, NC_000019.10:g.16492877_16492880del, NC_000019.10:g.16492878_16492880del, NC_000019.10:g.16492879_16492880del, NC_000019.10:g.16492880del, NC_000019.10:g.16492880dup, NC_000019.10:g.16492879_16492880dup, NC_000019.10:g.16492878_16492880dup, NC_000019.10:g.16492876_16492880dup, NC_000019.10:g.16492875_16492880dup, NC_000019.9:g.16603686_16603691del, NC_000019.9:g.16603688_16603691del, NC_000019.9:g.16603689_16603691del, NC_000019.9:g.16603690_16603691del, NC_000019.9:g.16603691del, NC_000019.9:g.16603691dup, NC_000019.9:g.16603690_16603691dup, NC_000019.9:g.16603689_16603691dup, NC_000019.9:g.16603687_16603691dup, NC_000019.9:g.16603686_16603691dup, NG_031959.2:g.140338_140343del, NG_031959.2:g.140340_140343del, NG_031959.2:g.140341_140343del, NG_031959.2:g.140342_140343del, NG_031959.2:g.140343del, NG_031959.2:g.140343dup, NG_031959.2:g.140342_140343dup, NG_031959.2:g.140341_140343dup, NG_031959.2:g.140339_140343dup, NG_031959.2:g.140338_140343dup

Select item 14908504818.

rs1490850481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:16482533 (GRCh38)
19:16593344 (GRCh37)
Canonical SPDI:: NC_000019.10:16482532:T:A
Gene:: CALR3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.16482533T>A, NC_000019.9:g.16593344T>A, NG_031959.2:g.150672A>T, NM_145046.5:c.835A>T, NM_145046.4:c.835A>T, NP_659483.2:p.Lys279Ter

Select item 14907944899.

rs1490794489 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:16486449 (GRCh38)
19:16597260 (GRCh37)
Canonical SPDI:: NC_000019.10:16486448:A:G
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.16486449A>G, NC_000019.9:g.16597260A>G, NG_031959.2:g.146756T>C

Select item 149076768910.

rs1490767689 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAATCC>- [Show Flanks]
Chromosome:: 19:16480234 (GRCh38)
19:16591045 (GRCh37)
Canonical SPDI:: NC_000019.10:16480230:TCCTAATCC:TCC
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCC=0./0 (ALFA)
-=0.000015/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.16480234_16480239del, NC_000019.9:g.16591045_16591050del, NG_031959.2:g.152969_152974del

Select item 149049619111.

rs1490496191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:16493907 (GRCh38)
19:16604718 (GRCh37)
Canonical SPDI:: NC_000019.10:16493906:T:C
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.16493907T>C, NC_000019.9:g.16604718T>C, NG_031959.2:g.139298A>G

Select item 149037066112.

rs1490370661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:16479394 (GRCh38)
19:16590205 (GRCh37)
Canonical SPDI:: NC_000019.10:16479393:G:A
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.16479394G>A, NC_000019.9:g.16590205G>A, NG_031959.2:g.153811C>T

Select item 149035628213.

rs1490356282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:16490489 (GRCh38)
19:16601300 (GRCh37)
Canonical SPDI:: NC_000019.10:16490488:A:T
Gene:: CALR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.16490489A>T, NC_000019.9:g.16601300A>T, NG_031959.2:g.142716T>A, NM_145046.5:c.275T>A, NM_145046.4:c.275T>A, NP_659483.2:p.Val92Asp

Select item 149009589814.

rs1490095898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:16491254 (GRCh38)
19:16602065 (GRCh37)
Canonical SPDI:: NC_000019.10:16491253:C:T
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.16491254C>T, NC_000019.9:g.16602065C>T, NG_031959.2:g.141951G>A

Select item 149003882615.

rs1490038826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:16492259 (GRCh38)
19:16603070 (GRCh37)
Canonical SPDI:: NC_000019.10:16492258:C:T
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.16492259C>T, NC_000019.9:g.16603070C>T, NG_031959.2:g.140946G>A

Select item 148998342816.

rs1489983428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:16492555 (GRCh38)
19:16603366 (GRCh37)
Canonical SPDI:: NC_000019.10:16492554:A:G
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.16492555A>G, NC_000019.9:g.16603366A>G, NG_031959.2:g.140650T>C

Select item 148993337517.

rs1489933375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:16491709 (GRCh38)
19:16602520 (GRCh37)
Canonical SPDI:: NC_000019.10:16491708:G:A
Gene:: CALR3 (Varview)
Functional Consequence:: intron_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_000019.10:g.16491709G>A, NC_000019.9:g.16602520G>A, NG_031959.2:g.141496C>T

Select item 148987687618.

rs1489876876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:16492625 (GRCh38)
19:16603436 (GRCh37)
Canonical SPDI:: NC_000019.10:16492624:G:A
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.16492625G>A, NC_000019.9:g.16603436G>A, NG_031959.2:g.140580C>T

Select item 148973042419.

rs1489730424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:16493104 (GRCh38)
19:16603915 (GRCh37)
Canonical SPDI:: NC_000019.10:16493103:C:A,NC_000019.10:16493103:C:T
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.16493104C>A, NC_000019.10:g.16493104C>T, NC_000019.9:g.16603915C>A, NC_000019.9:g.16603915C>T, NG_031959.2:g.140101G>T, NG_031959.2:g.140101G>A

Select item 148943796920.

rs1489437969 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:16486676 (GRCh38)
19:16597487 (GRCh37)
Canonical SPDI:: NC_000019.10:16486675:T:C
Gene:: CALR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.16486676T>C, NC_000019.9:g.16597487T>C, NG_031959.2:g.146529A>G, NG_080758.1:g.159T>C

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