SNP Links for Gene (Select 6632) - SNP

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Select item 14915296471.

rs1491529647 has merged into rs1206974503 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 18:21624699 (GRCh38)
18:19204660 (GRCh37)
Canonical SPDI:: NC_000018.10:21624690:AAAAAAAAAAAA:AAAAAAAA,NC_000018.10:21624690:AAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:21624690:AAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:21624690:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:21624690:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:21624690:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.001667/1 (NorthernSweden)
-=0.028233/7473 (TOPMED)
HGVS:: NC_000018.10:g.21624699_21624702del, NC_000018.10:g.21624700_21624702del, NC_000018.10:g.21624701_21624702del, NC_000018.10:g.21624702del, NC_000018.10:g.21624702dup, NC_000018.10:g.21624701_21624702dup, NC_000018.9:g.19204660_19204663del, NC_000018.9:g.19204661_19204663del, NC_000018.9:g.19204662_19204663del, NC_000018.9:g.19204663del, NC_000018.9:g.19204663dup, NC_000018.9:g.19204662_19204663dup

Select item 14914899972.

rs1491489997 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 18:21622829 (GRCh38)
18:19202790 (GRCh37)
Canonical SPDI:: NC_000018.10:21622828:AT:
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
HGVS:: NC_000018.10:g.21622829_21622830del, NC_000018.9:g.19202790_19202791del

Select item 14914560133.

rs1491456013 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 18:21619501 (GRCh38)
18:19199463 (GRCh37)
Canonical SPDI:: NC_000018.10:21619501::T
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000018.10:g.21619501_21619502insT, NC_000018.9:g.19199462_19199463insT

Select item 14913387724.

rs1491338772 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA [Show Flanks]
Chromosome:: 18:21618341 (GRCh38)
18:19198302 (GRCh37)
Canonical SPDI:: NC_000018.10:21618340:AAAAAAAAA:AAAAAAAA,NC_000018.10:21618340:AAAAAAAAA:AAAAAAAAAA,NC_000018.10:21618340:AAAAAAAAA:AAAAAAAAAAA
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.00007/1 (TOMMO)
HGVS:: NC_000018.10:g.21618349del, NC_000018.10:g.21618349dup, NC_000018.10:g.21618348_21618349dup, NC_000018.9:g.19198310del, NC_000018.9:g.19198310dup, NC_000018.9:g.19198309_19198310dup

Select item 14913222645.

rs1491322264 has merged into rs71178190 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:21627444 (GRCh38)
18:19207405 (GRCh37)
Canonical SPDI:: NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:21627434:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000018.10:g.21627444_21627457del, NC_000018.10:g.21627446_21627457del, NC_000018.10:g.21627450_21627457del, NC_000018.10:g.21627451_21627457del, NC_000018.10:g.21627453_21627457del, NC_000018.10:g.21627454_21627457del, NC_000018.10:g.21627455_21627457del, NC_000018.10:g.21627456_21627457del, NC_000018.10:g.21627457del, NC_000018.10:g.21627457dup, NC_000018.10:g.21627456_21627457dup, NC_000018.10:g.21627455_21627457dup, NC_000018.10:g.21627454_21627457dup, NC_000018.10:g.21627453_21627457dup, NC_000018.10:g.21627452_21627457dup, NC_000018.10:g.21627451_21627457dup, NC_000018.10:g.21627450_21627457dup, NC_000018.10:g.21627448_21627457dup, NC_000018.10:g.21627444_21627457dup, NC_000018.9:g.19207405_19207418del, NC_000018.9:g.19207407_19207418del, NC_000018.9:g.19207411_19207418del, NC_000018.9:g.19207412_19207418del, NC_000018.9:g.19207414_19207418del, NC_000018.9:g.19207415_19207418del, NC_000018.9:g.19207416_19207418del, NC_000018.9:g.19207417_19207418del, NC_000018.9:g.19207418del, NC_000018.9:g.19207418dup, NC_000018.9:g.19207417_19207418dup, NC_000018.9:g.19207416_19207418dup, NC_000018.9:g.19207415_19207418dup, NC_000018.9:g.19207414_19207418dup, NC_000018.9:g.19207413_19207418dup, NC_000018.9:g.19207412_19207418dup, NC_000018.9:g.19207411_19207418dup, NC_000018.9:g.19207409_19207418dup, NC_000018.9:g.19207405_19207418dup

Select item 14912585576.

rs1491258557 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 18:21618340 (GRCh38)
18:19198301 (GRCh37)
Canonical SPDI:: NC_000018.10:21618339:TA:
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.21618340_21618341del, NC_000018.9:g.19198301_19198302del

Select item 14912569737.

rs1491256973 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:21624690 (GRCh38)
18:19204651 (GRCh37)
Canonical SPDI:: NC_000018.10:21624689:CA:
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.21624690_21624691del, NC_000018.9:g.19204651_19204652del

Select item 14910577618.

rs1491057761 has merged into rs745537224 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT,ATATATATATAT [Show Flanks]
Chromosome:: 18:21624714 (GRCh38)
18:19204675 (GRCh37)
Canonical SPDI:: NC_000018.10:21624701:ATATATATATATATATAT:ATATATATATAT,NC_000018.10:21624701:ATATATATATATATATAT:ATATATATATATAT,NC_000018.10:21624701:ATATATATATATATATAT:ATATATATATATATAT,NC_000018.10:21624701:ATATATATATATATATAT:ATATATATATATATATATAT,NC_000018.10:21624701:ATATATATATATATATAT:ATATATATATATATATATATAT,NC_000018.10:21624701:ATATATATATATATATAT:ATATATATATATATATATATATAT
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATATATAT=0./0 (ALFA)
-=0.000042/11 (TOPMED)
HGVS:: NC_000018.10:g.21624702AT[6], NC_000018.10:g.21624702AT[7], NC_000018.10:g.21624702AT[8], NC_000018.10:g.21624702AT[10], NC_000018.10:g.21624702AT[11], NC_000018.10:g.21624702AT[12], NC_000018.9:g.19204663AT[6], NC_000018.9:g.19204663AT[7], NC_000018.9:g.19204663AT[8], NC_000018.9:g.19204663AT[10], NC_000018.9:g.19204663AT[11], NC_000018.9:g.19204663AT[12]

Select item 14909949589.

rs1490994958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:21612702 (GRCh38)
18:19192663 (GRCh37)
Canonical SPDI:: NC_000018.10:21612701:A:C,NC_000018.10:21612701:A:G
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.21612702A>C, NC_000018.10:g.21612702A>G, NC_000018.9:g.19192663A>C, NC_000018.9:g.19192663A>G

Select item 149080987210.

rs1490809872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:21615397 (GRCh38)
18:19195358 (GRCh37)
Canonical SPDI:: NC_000018.10:21615396:C:T
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.21615397C>T, NC_000018.9:g.19195358C>T

Select item 149078257211.

rs1490782572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:21627481 (GRCh38)
18:19207442 (GRCh37)
Canonical SPDI:: NC_000018.10:21627480:C:T
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.21627481C>T, NC_000018.9:g.19207442C>T

Select item 149068873112.

rs1490688731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:21624240 (GRCh38)
18:19204201 (GRCh37)
Canonical SPDI:: NC_000018.10:21624239:A:G
Gene:: SNRPD1 (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_000018.10:g.21624240A>G, NC_000018.9:g.19204201A>G

Select item 149036665213.

rs1490366652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:21614848 (GRCh38)
18:19194809 (GRCh37)
Canonical SPDI:: NC_000018.10:21614847:C:T
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.001638/3 (Korea1K)
T=0.002194/37 (TOMMO)
T=0.003765/11 (KOREAN)
HGVS:: NC_000018.10:g.21614848C>T, NC_000018.9:g.19194809C>T

Select item 149005635314.

rs1490056353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:21622539 (GRCh38)
18:19202500 (GRCh37)
Canonical SPDI:: NC_000018.10:21622538:G:A,NC_000018.10:21622538:G:T
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.21622539G>A, NC_000018.10:g.21622539G>T, NC_000018.9:g.19202500G>A, NC_000018.9:g.19202500G>T

Select item 148996464015.

rs1489964640 [Homo sapiens]

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

Select item 148991735216.

rs1489917352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:21622182 (GRCh38)
18:19202143 (GRCh37)
Canonical SPDI:: NC_000018.10:21622181:C:T
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000018.10:g.21622182C>T, NC_000018.9:g.19202143C>T

Select item 148989237317.

rs1489892373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:21622998 (GRCh38)
18:19202959 (GRCh37)
Canonical SPDI:: NC_000018.10:21622997:C:T
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.21622998C>T, NC_000018.9:g.19202959C>T

Select item 148982699718.

rs1489826997 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 18:21616153 (GRCh38)
18:19196114 (GRCh37)
Canonical SPDI:: NC_000018.10:21616152:TTTTTT:TTTTT,NC_000018.10:21616152:TTTTTT:TTTTTTT
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0.00049/8 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000015/2 (GnomAD)
-=0.001805/51 (TOMMO)
HGVS:: NC_000018.10:g.21616158del, NC_000018.10:g.21616158dup, NC_000018.9:g.19196119del, NC_000018.9:g.19196119dup

Select item 148953117519.

rs1489531175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:21616515 (GRCh38)
18:19196476 (GRCh37)
Canonical SPDI:: NC_000018.10:21616514:G:A,NC_000018.10:21616514:G:C
Gene:: SNRPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000018.10:g.21616515G>A, NC_000018.10:g.21616515G>C, NC_000018.9:g.19196476G>A, NC_000018.9:g.19196476G>C

Select item 148940340320.

rs1489403403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:21630118 (GRCh38)
18:19210079 (GRCh37)
Canonical SPDI:: NC_000018.10:21630117:G:A
Gene:: SNRPD1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000018.10:g.21630118G>A, NC_000018.9:g.19210079G>A, NM_006938.4:c.*980G>A, NM_006938.3:c.*980G>A, NM_006938.2:c.*980G>A, NM_001291916.2:c.*980G>A, NM_001291916.1:c.*980G>A

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