SNP Links for Gene (Select 22930) - SNP

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Select item 14915666231.

rs1491566623 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:135157831 (GRCh38)
2:135915401 (GRCh37)
Canonical SPDI:: NC_000002.12:135157830:CA:
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.135157831_135157832del, NC_000002.11:g.135915401_135915402del, NG_016972.1:g.110567_110568del

Select item 14915630952.

rs1491563095 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:135086687 (GRCh38)
2:135844258 (GRCh37)
Canonical SPDI:: NC_000002.12:135086687::T
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.135086687_135086688insT, NC_000002.11:g.135844257_135844258insT, NG_016972.1:g.39423_39424insT

Select item 14915572783.

rs1491557278 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATCGGCACCATTACCAATGGAGCTTA [Show Flanks]
Chromosome:: 2:135163633 (GRCh38)
2:135921204 (GRCh37)
Canonical SPDI:: NC_000002.12:135163633:TCGGCACCATTACCAATGGAGCTTA:TCGGCACCATTACCAATGGAGCTTAATCGGCACCATTACCAATGGAGCTTA
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCGGCACCATTACCAATGGAGCTTAATCGGCACCATTACCAATGGAGCTTA=0./0 (ALFA)
TCGGCACCATTACCAATGGAGCTTAA=0.000004/1 (TOPMED)
TCGGCACCATTACCAATGGAGCTTAA=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.135163658_135163659insATCGGCACCATTACCAATGGAGCTTA, NC_000002.11:g.135921228_135921229insATCGGCACCATTACCAATGGAGCTTA, NG_016972.1:g.116394_116395insATCGGCACCATTACCAATGGAGCTTA

Select item 14915559394.

rs1491555939 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:135080116 (GRCh38)
2:135837686 (GRCh37)
Canonical SPDI:: NC_000002.12:135080115:CA:
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.135080116_135080117del, NC_000002.11:g.135837686_135837687del, NG_016972.1:g.32852_32853del

Select item 14915396565.

rs1491539656 has merged into rs201120356 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 2:135083643 (GRCh38)
2:135841213 (GRCh37)
Canonical SPDI:: NC_000002.12:135083630:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:135083630:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:135083630:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:135083630:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.135083643_135083644del, NC_000002.12:g.135083644del, NC_000002.12:g.135083644dup, NC_000002.12:g.135083643_135083644dup, NC_000002.11:g.135841213_135841214del, NC_000002.11:g.135841214del, NC_000002.11:g.135841214dup, NC_000002.11:g.135841213_135841214dup, NG_016972.1:g.36379_36380del, NG_016972.1:g.36380del, NG_016972.1:g.36380dup, NG_016972.1:g.36379_36380dup

Select item 14915361466.

rs1491536146 has merged into rs756384597 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:135051727 (GRCh38)
2:135809297 (GRCh37)
Canonical SPDI:: NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135051714:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000002.12:g.135051727_135051751del, NC_000002.12:g.135051728_135051751del, NC_000002.12:g.135051729_135051751del, NC_000002.12:g.135051730_135051751del, NC_000002.12:g.135051731_135051751del, NC_000002.12:g.135051732_135051751del, NC_000002.12:g.135051733_135051751del, NC_000002.12:g.135051734_135051751del, NC_000002.12:g.135051735_135051751del, NC_000002.12:g.135051736_135051751del, NC_000002.12:g.135051737_135051751del, NC_000002.12:g.135051738_135051751del, NC_000002.12:g.135051739_135051751del, NC_000002.12:g.135051740_135051751del, NC_000002.12:g.135051741_135051751del, NC_000002.12:g.135051742_135051751del, NC_000002.12:g.135051743_135051751del, NC_000002.12:g.135051744_135051751del, NC_000002.12:g.135051745_135051751del, NC_000002.12:g.135051746_135051751del, NC_000002.12:g.135051747_135051751del, NC_000002.12:g.135051748_135051751del, NC_000002.12:g.135051749_135051751del, NC_000002.12:g.135051750_135051751del, NC_000002.12:g.135051751del, NC_000002.12:g.135051751dup, NC_000002.12:g.135051750_135051751dup, NC_000002.12:g.135051749_135051751dup, NC_000002.12:g.135051748_135051751dup, NC_000002.12:g.135051747_135051751dup, NC_000002.12:g.135051746_135051751dup, NC_000002.12:g.135051745_135051751dup, NC_000002.12:g.135051744_135051751dup, NC_000002.12:g.135051742_135051751dup, NC_000002.12:g.135051740_135051751dup, NC_000002.11:g.135809297_135809321del, NC_000002.11:g.135809298_135809321del, NC_000002.11:g.135809299_135809321del, NC_000002.11:g.135809300_135809321del, NC_000002.11:g.135809301_135809321del, NC_000002.11:g.135809302_135809321del, NC_000002.11:g.135809303_135809321del, NC_000002.11:g.135809304_135809321del, NC_000002.11:g.135809305_135809321del, NC_000002.11:g.135809306_135809321del, NC_000002.11:g.135809307_135809321del, NC_000002.11:g.135809308_135809321del, NC_000002.11:g.135809309_135809321del, NC_000002.11:g.135809310_135809321del, NC_000002.11:g.135809311_135809321del, NC_000002.11:g.135809312_135809321del, NC_000002.11:g.135809313_135809321del, NC_000002.11:g.135809314_135809321del, NC_000002.11:g.135809315_135809321del, NC_000002.11:g.135809316_135809321del, NC_000002.11:g.135809317_135809321del, NC_000002.11:g.135809318_135809321del, NC_000002.11:g.135809319_135809321del, NC_000002.11:g.135809320_135809321del, NC_000002.11:g.135809321del, NC_000002.11:g.135809321dup, NC_000002.11:g.135809320_135809321dup, NC_000002.11:g.135809319_135809321dup, NC_000002.11:g.135809318_135809321dup, NC_000002.11:g.135809317_135809321dup, NC_000002.11:g.135809316_135809321dup, NC_000002.11:g.135809315_135809321dup, NC_000002.11:g.135809314_135809321dup, NC_000002.11:g.135809312_135809321dup, NC_000002.11:g.135809310_135809321dup, NG_016972.1:g.4463_4487del, NG_016972.1:g.4464_4487del, NG_016972.1:g.4465_4487del, NG_016972.1:g.4466_4487del, NG_016972.1:g.4467_4487del, NG_016972.1:g.4468_4487del, NG_016972.1:g.4469_4487del, NG_016972.1:g.4470_4487del, NG_016972.1:g.4471_4487del, NG_016972.1:g.4472_4487del, NG_016972.1:g.4473_4487del, NG_016972.1:g.4474_4487del, NG_016972.1:g.4475_4487del, NG_016972.1:g.4476_4487del, NG_016972.1:g.4477_4487del, NG_016972.1:g.4478_4487del, NG_016972.1:g.4479_4487del, NG_016972.1:g.4480_4487del, NG_016972.1:g.4481_4487del, NG_016972.1:g.4482_4487del, NG_016972.1:g.4483_4487del, NG_016972.1:g.4484_4487del, NG_016972.1:g.4485_4487del, NG_016972.1:g.4486_4487del, NG_016972.1:g.4487del, NG_016972.1:g.4487dup, NG_016972.1:g.4486_4487dup, NG_016972.1:g.4485_4487dup, NG_016972.1:g.4484_4487dup, NG_016972.1:g.4483_4487dup, NG_016972.1:g.4482_4487dup, NG_016972.1:g.4481_4487dup, NG_016972.1:g.4480_4487dup, NG_016972.1:g.4478_4487dup, NG_016972.1:g.4476_4487dup

Select item 14914875057.

rs1491487505 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:135104701 (GRCh38)
2:135862271 (GRCh37)
Canonical SPDI:: NC_000002.12:135104698:AAAA:AA
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.135104701_135104702del, NC_000002.11:g.135862271_135862272del, NG_016972.1:g.57437_57438del

Select item 14914108838.

rs1491410883 [Homo sapiens]

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

Select item 14914104319.

rs1491410431 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:135163634 (GRCh38)
2:135921204 (GRCh37)
Canonical SPDI:: NC_000002.12:135163632:CTC:C
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.135163634_135163635del, NC_000002.11:g.135921204_135921205del, NG_016972.1:g.116370_116371del

Select item 149138000210.

rs1491380002 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:135069410 (GRCh38)
2:135826980 (GRCh37)
Canonical SPDI:: NC_000002.12:135069409:CT:
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.135069410_135069411del, NC_000002.11:g.135826980_135826981del, NG_016972.1:g.22146_22147del

Select item 149131640011.

rs1491316400 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:135176676 (GRCh38)
2:135934247 (GRCh37)
Canonical SPDI:: NC_000002.12:135176676::C
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000002.12:g.135176676_135176677insC, NC_000002.11:g.135934246_135934247insC

Select item 149129318712.

rs1491293187 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 149120984213.

rs1491209842 [Homo sapiens]

Variant type:: SNV:
Alleles:: AT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149120224014.

rs1491202240 has merged into rs59034119 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:135160686 (GRCh38)
2:135918256 (GRCh37)
Canonical SPDI:: NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135160674:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.135160686_135160700del, NC_000002.12:g.135160687_135160700del, NC_000002.12:g.135160688_135160700del, NC_000002.12:g.135160689_135160700del, NC_000002.12:g.135160690_135160700del, NC_000002.12:g.135160691_135160700del, NC_000002.12:g.135160693_135160700del, NC_000002.12:g.135160694_135160700del, NC_000002.12:g.135160695_135160700del, NC_000002.12:g.135160696_135160700del, NC_000002.12:g.135160697_135160700del, NC_000002.12:g.135160698_135160700del, NC_000002.12:g.135160699_135160700del, NC_000002.12:g.135160700del, NC_000002.12:g.135160700dup, NC_000002.12:g.135160699_135160700dup, NC_000002.12:g.135160698_135160700dup, NC_000002.12:g.135160697_135160700dup, NC_000002.12:g.135160696_135160700dup, NC_000002.12:g.135160695_135160700dup, NC_000002.11:g.135918256_135918270del, NC_000002.11:g.135918257_135918270del, NC_000002.11:g.135918258_135918270del, NC_000002.11:g.135918259_135918270del, NC_000002.11:g.135918260_135918270del, NC_000002.11:g.135918261_135918270del, NC_000002.11:g.135918263_135918270del, NC_000002.11:g.135918264_135918270del, NC_000002.11:g.135918265_135918270del, NC_000002.11:g.135918266_135918270del, NC_000002.11:g.135918267_135918270del, NC_000002.11:g.135918268_135918270del, NC_000002.11:g.135918269_135918270del, NC_000002.11:g.135918270del, NC_000002.11:g.135918270dup, NC_000002.11:g.135918269_135918270dup, NC_000002.11:g.135918268_135918270dup, NC_000002.11:g.135918267_135918270dup, NC_000002.11:g.135918266_135918270dup, NC_000002.11:g.135918265_135918270dup, NG_016972.1:g.113422_113436del, NG_016972.1:g.113423_113436del, NG_016972.1:g.113424_113436del, NG_016972.1:g.113425_113436del, NG_016972.1:g.113426_113436del, NG_016972.1:g.113427_113436del, NG_016972.1:g.113429_113436del, NG_016972.1:g.113430_113436del, NG_016972.1:g.113431_113436del, NG_016972.1:g.113432_113436del, NG_016972.1:g.113433_113436del, NG_016972.1:g.113434_113436del, NG_016972.1:g.113435_113436del, NG_016972.1:g.113436del, NG_016972.1:g.113436dup, NG_016972.1:g.113435_113436dup, NG_016972.1:g.113434_113436dup, NG_016972.1:g.113433_113436dup, NG_016972.1:g.113432_113436dup, NG_016972.1:g.113431_113436dup

Select item 149119364615.

rs1491193646 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:135108515 (GRCh38)
2:135866085 (GRCh37)
Canonical SPDI:: NC_000002.12:135108514:CT:
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0019/7 (TWINSUK)
-=0.0026/10 (ALSPAC)
HGVS:: NC_000002.12:g.135108515_135108516del, NC_000002.11:g.135866085_135866086del, NG_016972.1:g.61251_61252del

Select item 149117766016.

rs1491177660 has merged into rs60562266 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:135060270 (GRCh38)
2:135817840 (GRCh37)
Canonical SPDI:: NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:135060256:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.135060270_135060277del, NC_000002.12:g.135060271_135060277del, NC_000002.12:g.135060273_135060277del, NC_000002.12:g.135060274_135060277del, NC_000002.12:g.135060275_135060277del, NC_000002.12:g.135060276_135060277del, NC_000002.12:g.135060277del, NC_000002.12:g.135060277dup, NC_000002.12:g.135060276_135060277dup, NC_000002.12:g.135060275_135060277dup, NC_000002.12:g.135060274_135060277dup, NC_000002.12:g.135060273_135060277dup, NC_000002.12:g.135060272_135060277dup, NC_000002.12:g.135060271_135060277dup, NC_000002.12:g.135060270_135060277dup, NC_000002.12:g.135060269_135060277dup, NC_000002.12:g.135060266_135060277dup, NC_000002.12:g.135060277_135060278insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.135817840_135817847del, NC_000002.11:g.135817841_135817847del, NC_000002.11:g.135817843_135817847del, NC_000002.11:g.135817844_135817847del, NC_000002.11:g.135817845_135817847del, NC_000002.11:g.135817846_135817847del, NC_000002.11:g.135817847del, NC_000002.11:g.135817847dup, NC_000002.11:g.135817846_135817847dup, NC_000002.11:g.135817845_135817847dup, NC_000002.11:g.135817844_135817847dup, NC_000002.11:g.135817843_135817847dup, NC_000002.11:g.135817842_135817847dup, NC_000002.11:g.135817841_135817847dup, NC_000002.11:g.135817840_135817847dup, NC_000002.11:g.135817839_135817847dup, NC_000002.11:g.135817836_135817847dup, NC_000002.11:g.135817847_135817848insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016972.1:g.13006_13013del, NG_016972.1:g.13007_13013del, NG_016972.1:g.13009_13013del, NG_016972.1:g.13010_13013del, NG_016972.1:g.13011_13013del, NG_016972.1:g.13012_13013del, NG_016972.1:g.13013del, NG_016972.1:g.13013dup, NG_016972.1:g.13012_13013dup, NG_016972.1:g.13011_13013dup, NG_016972.1:g.13010_13013dup, NG_016972.1:g.13009_13013dup, NG_016972.1:g.13008_13013dup, NG_016972.1:g.13007_13013dup, NG_016972.1:g.13006_13013dup, NG_016972.1:g.13005_13013dup, NG_016972.1:g.13002_13013dup, NG_016972.1:g.13013_13014insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149116825917.

rs1491168259 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GC
Chromosome:: no mapping
Canonical SPDI:

Select item 149115301218.

rs1491153012 has merged into rs58810979 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:135157837 (GRCh38)
2:135915407 (GRCh37)
Canonical SPDI:: NC_000002.12:135157831:AAAAAAAAAAAAAAAAAA:AAAAA,NC_000002.12:135157831:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:135157831:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:135157831:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:135157831:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:135157831:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:135157831:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:135157831:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:135157831:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135157831:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135157831:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135157831:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135157831:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135157831:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135157831:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.15/6 (GENOME_DK)
-=0.2274/1139 (1000Genomes)
HGVS:: NC_000002.12:g.135157837_135157849del, NC_000002.12:g.135157843_135157849del, NC_000002.12:g.135157845_135157849del, NC_000002.12:g.135157847_135157849del, NC_000002.12:g.135157848_135157849del, NC_000002.12:g.135157849del, NC_000002.12:g.135157849dup, NC_000002.12:g.135157848_135157849dup, NC_000002.12:g.135157847_135157849dup, NC_000002.12:g.135157846_135157849dup, NC_000002.12:g.135157844_135157849dup, NC_000002.12:g.135157843_135157849dup, NC_000002.12:g.135157840_135157849dup, NC_000002.12:g.135157836_135157849dup, NC_000002.12:g.135157849_135157850insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.135915407_135915419del, NC_000002.11:g.135915413_135915419del, NC_000002.11:g.135915415_135915419del, NC_000002.11:g.135915417_135915419del, NC_000002.11:g.135915418_135915419del, NC_000002.11:g.135915419del, NC_000002.11:g.135915419dup, NC_000002.11:g.135915418_135915419dup, NC_000002.11:g.135915417_135915419dup, NC_000002.11:g.135915416_135915419dup, NC_000002.11:g.135915414_135915419dup, NC_000002.11:g.135915413_135915419dup, NC_000002.11:g.135915410_135915419dup, NC_000002.11:g.135915406_135915419dup, NC_000002.11:g.135915419_135915420insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016972.1:g.110573_110585del, NG_016972.1:g.110579_110585del, NG_016972.1:g.110581_110585del, NG_016972.1:g.110583_110585del, NG_016972.1:g.110584_110585del, NG_016972.1:g.110585del, NG_016972.1:g.110585dup, NG_016972.1:g.110584_110585dup, NG_016972.1:g.110583_110585dup, NG_016972.1:g.110582_110585dup, NG_016972.1:g.110580_110585dup, NG_016972.1:g.110579_110585dup, NG_016972.1:g.110576_110585dup, NG_016972.1:g.110572_110585dup, NG_016972.1:g.110585_110586insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149114352519.

rs1491143525 has merged into rs1187769172 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:135176689 (GRCh38)
2:135934259 (GRCh37)
Canonical SPDI:: NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135176675:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.135176689_135176705del, NC_000002.12:g.135176691_135176705del, NC_000002.12:g.135176692_135176705del, NC_000002.12:g.135176693_135176705del, NC_000002.12:g.135176694_135176705del, NC_000002.12:g.135176695_135176705del, NC_000002.12:g.135176696_135176705del, NC_000002.12:g.135176697_135176705del, NC_000002.12:g.135176698_135176705del, NC_000002.12:g.135176699_135176705del, NC_000002.12:g.135176700_135176705del, NC_000002.12:g.135176701_135176705del, NC_000002.12:g.135176702_135176705del, NC_000002.12:g.135176703_135176705del, NC_000002.12:g.135176704_135176705del, NC_000002.12:g.135176705del, NC_000002.12:g.135176705dup, NC_000002.12:g.135176704_135176705dup, NC_000002.12:g.135176703_135176705dup, NC_000002.12:g.135176702_135176705dup, NC_000002.12:g.135176701_135176705dup, NC_000002.12:g.135176700_135176705dup, NC_000002.12:g.135176699_135176705dup, NC_000002.12:g.135176698_135176705dup, NC_000002.12:g.135176697_135176705dup, NC_000002.12:g.135176683_135176705dup, NC_000002.11:g.135934259_135934275del, NC_000002.11:g.135934261_135934275del, NC_000002.11:g.135934262_135934275del, NC_000002.11:g.135934263_135934275del, NC_000002.11:g.135934264_135934275del, NC_000002.11:g.135934265_135934275del, NC_000002.11:g.135934266_135934275del, NC_000002.11:g.135934267_135934275del, NC_000002.11:g.135934268_135934275del, NC_000002.11:g.135934269_135934275del, NC_000002.11:g.135934270_135934275del, NC_000002.11:g.135934271_135934275del, NC_000002.11:g.135934272_135934275del, NC_000002.11:g.135934273_135934275del, NC_000002.11:g.135934274_135934275del, NC_000002.11:g.135934275del, NC_000002.11:g.135934275dup, NC_000002.11:g.135934274_135934275dup, NC_000002.11:g.135934273_135934275dup, NC_000002.11:g.135934272_135934275dup, NC_000002.11:g.135934271_135934275dup, NC_000002.11:g.135934270_135934275dup, NC_000002.11:g.135934269_135934275dup, NC_000002.11:g.135934268_135934275dup, NC_000002.11:g.135934267_135934275dup, NC_000002.11:g.135934253_135934275dup

Select item 149111260620.

rs1491112606 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 2:135086687 (GRCh38)
2:135844257 (GRCh37)
Canonical SPDI:: NC_000002.12:135086686:CC:
Gene:: RAB3GAP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00534/78 (ALFA)
-=0.00018/5 (TOMMO)
-=0.00333/2 (NorthernSweden)
HGVS:: NC_000002.12:g.135086687_135086688del, NC_000002.11:g.135844257_135844258del, NG_016972.1:g.39423_39424del

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