SNP Links for Gene (Select 140700) - SNP

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Select item 14915538121.

rs1491553812 has merged into rs11295538 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCC>-,C,CC,CCCC,CCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 20:63981648 (GRCh38)
20:62613001 (GRCh37)
Canonical SPDI:: NC_000020.11:63981643:CCCCCCCCCC:CCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:63981643:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: PRPF6 (Varview), SAMD10 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
HGVS:: NC_000020.11:g.63981648_63981653del, NC_000020.11:g.63981649_63981653del, NC_000020.11:g.63981650_63981653del, NC_000020.11:g.63981652_63981653del, NC_000020.11:g.63981653del, NC_000020.11:g.63981653dup, NC_000020.11:g.63981652_63981653dup, NC_000020.11:g.63981651_63981653dup, NC_000020.11:g.63981650_63981653dup, NC_000020.11:g.63981649_63981653dup, NC_000020.11:g.63981648_63981653dup, NC_000020.11:g.63981647_63981653dup, NC_000020.11:g.63981646_63981653dup, NC_000020.11:g.63981645_63981653dup, NC_000020.11:g.63981644_63981653dup, NC_000020.11:g.63981653_63981654insCCCCCCCCCCC, NC_000020.11:g.63981653_63981654insCCCCCCCCCCCC, NC_000020.11:g.63981653_63981654insCCCCCCCCCCCCC, NC_000020.11:g.63981653_63981654insCCCCCCCCCCCCCC, NC_000020.11:g.63981653_63981654insCCCCCCCCCCCCCCC, NC_000020.11:g.63981653_63981654insCCCCCCCCCCCCCCCC, NC_000020.11:g.63981653_63981654insCCCCCCCCCCCCCCCCC, NC_000020.10:g.62613001_62613006del, NC_000020.10:g.62613002_62613006del, NC_000020.10:g.62613003_62613006del, NC_000020.10:g.62613005_62613006del, NC_000020.10:g.62613006del, NC_000020.10:g.62613006dup, NC_000020.10:g.62613005_62613006dup, NC_000020.10:g.62613004_62613006dup, NC_000020.10:g.62613003_62613006dup, NC_000020.10:g.62613002_62613006dup, NC_000020.10:g.62613001_62613006dup, NC_000020.10:g.62613000_62613006dup, NC_000020.10:g.62612999_62613006dup, NC_000020.10:g.62612998_62613006dup, NC_000020.10:g.62612997_62613006dup, NC_000020.10:g.62613006_62613007insCCCCCCCCCCC, NC_000020.10:g.62613006_62613007insCCCCCCCCCCCC, NC_000020.10:g.62613006_62613007insCCCCCCCCCCCCC, NC_000020.10:g.62613006_62613007insCCCCCCCCCCCCCC, NC_000020.10:g.62613006_62613007insCCCCCCCCCCCCCCC, NC_000020.10:g.62613006_62613007insCCCCCCCCCCCCCCCC, NC_000020.10:g.62613006_62613007insCCCCCCCCCCCCCCCCC, NG_029719.1:g.5571_5576del, NG_029719.1:g.5572_5576del, NG_029719.1:g.5573_5576del, NG_029719.1:g.5575_5576del, NG_029719.1:g.5576del, NG_029719.1:g.5576dup, NG_029719.1:g.5575_5576dup, NG_029719.1:g.5574_5576dup, NG_029719.1:g.5573_5576dup, NG_029719.1:g.5572_5576dup, NG_029719.1:g.5571_5576dup, NG_029719.1:g.5570_5576dup, NG_029719.1:g.5569_5576dup, NG_029719.1:g.5568_5576dup, NG_029719.1:g.5567_5576dup, NG_029719.1:g.5576_5577insCCCCCCCCCCC, NG_029719.1:g.5576_5577insCCCCCCCCCCCC, NG_029719.1:g.5576_5577insCCCCCCCCCCCCC, NG_029719.1:g.5576_5577insCCCCCCCCCCCCCC, NG_029719.1:g.5576_5577insCCCCCCCCCCCCCCC, NG_029719.1:g.5576_5577insCCCCCCCCCCCCCCCC, NG_029719.1:g.5576_5577insCCCCCCCCCCCCCCCCC

Select item 14915510522.

rs1491551052 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCC [Show Flanks]
Chromosome:: 20:63981644 (GRCh38)
20:62612998 (GRCh37)
Canonical SPDI:: NC_000020.11:63981644:CCC:CCCGCCC
Gene:: PRPF6 (Varview), SAMD10 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CCCGCCC=0.00042/5 (ALFA)
HGVS:: NC_000020.11:g.63981647_63981648insGCCC, NC_000020.10:g.62613000_62613001insGCCC, NG_029719.1:g.5570_5571insGCCC

Select item 14913275483.

rs1491327548 has merged into rs60461303 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:63976776 (GRCh38)
20:62608129 (GRCh37)
Canonical SPDI:: NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:63976764:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SAMD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000038/10 (TOPMED)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000020.11:g.63976776_63976791del, NC_000020.11:g.63976777_63976791del, NC_000020.11:g.63976778_63976791del, NC_000020.11:g.63976779_63976791del, NC_000020.11:g.63976780_63976791del, NC_000020.11:g.63976781_63976791del, NC_000020.11:g.63976782_63976791del, NC_000020.11:g.63976783_63976791del, NC_000020.11:g.63976784_63976791del, NC_000020.11:g.63976785_63976791del, NC_000020.11:g.63976786_63976791del, NC_000020.11:g.63976787_63976791del, NC_000020.11:g.63976788_63976791del, NC_000020.11:g.63976789_63976791del, NC_000020.11:g.63976790_63976791del, NC_000020.11:g.63976791del, NC_000020.11:g.63976791dup, NC_000020.11:g.63976790_63976791dup, NC_000020.11:g.63976789_63976791dup, NC_000020.11:g.63976788_63976791dup, NC_000020.11:g.63976787_63976791dup, NC_000020.11:g.63976786_63976791dup, NC_000020.11:g.63976785_63976791dup, NC_000020.11:g.63976784_63976791dup, NC_000020.11:g.63976783_63976791dup, NC_000020.11:g.63976782_63976791dup, NC_000020.11:g.63976781_63976791dup, NC_000020.11:g.63976780_63976791dup, NC_000020.11:g.63976779_63976791dup, NC_000020.11:g.63976778_63976791dup, NC_000020.11:g.63976777_63976791dup, NC_000020.11:g.63976776_63976791dup, NC_000020.11:g.63976775_63976791dup, NC_000020.11:g.63976774_63976791dup, NC_000020.11:g.63976773_63976791dup, NC_000020.11:g.63976772_63976791dup, NC_000020.11:g.63976771_63976791dup, NC_000020.11:g.63976770_63976791dup, NC_000020.11:g.63976769_63976791dup, NC_000020.11:g.63976768_63976791dup, NC_000020.11:g.63976767_63976791dup, NC_000020.11:g.63976766_63976791dup, NC_000020.11:g.63976791_63976792insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.63976791_63976792insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.62608129_62608144del, NC_000020.10:g.62608130_62608144del, NC_000020.10:g.62608131_62608144del, NC_000020.10:g.62608132_62608144del, NC_000020.10:g.62608133_62608144del, NC_000020.10:g.62608134_62608144del, NC_000020.10:g.62608135_62608144del, NC_000020.10:g.62608136_62608144del, NC_000020.10:g.62608137_62608144del, NC_000020.10:g.62608138_62608144del, NC_000020.10:g.62608139_62608144del, NC_000020.10:g.62608140_62608144del, NC_000020.10:g.62608141_62608144del, NC_000020.10:g.62608142_62608144del, NC_000020.10:g.62608143_62608144del, NC_000020.10:g.62608144del, NC_000020.10:g.62608144dup, NC_000020.10:g.62608143_62608144dup, NC_000020.10:g.62608142_62608144dup, NC_000020.10:g.62608141_62608144dup, NC_000020.10:g.62608140_62608144dup, NC_000020.10:g.62608139_62608144dup, NC_000020.10:g.62608138_62608144dup, NC_000020.10:g.62608137_62608144dup, NC_000020.10:g.62608136_62608144dup, NC_000020.10:g.62608135_62608144dup, NC_000020.10:g.62608134_62608144dup, NC_000020.10:g.62608133_62608144dup, NC_000020.10:g.62608132_62608144dup, NC_000020.10:g.62608131_62608144dup, NC_000020.10:g.62608130_62608144dup, NC_000020.10:g.62608129_62608144dup, NC_000020.10:g.62608128_62608144dup, NC_000020.10:g.62608127_62608144dup, NC_000020.10:g.62608126_62608144dup, NC_000020.10:g.62608125_62608144dup, NC_000020.10:g.62608124_62608144dup, NC_000020.10:g.62608123_62608144dup, NC_000020.10:g.62608122_62608144dup, NC_000020.10:g.62608121_62608144dup, NC_000020.10:g.62608120_62608144dup, NC_000020.10:g.62608119_62608144dup, NC_000020.10:g.62608144_62608145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.62608144_62608145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029719.1:g.699_714del, NG_029719.1:g.700_714del, NG_029719.1:g.701_714del, NG_029719.1:g.702_714del, NG_029719.1:g.703_714del, NG_029719.1:g.704_714del, NG_029719.1:g.705_714del, NG_029719.1:g.706_714del, NG_029719.1:g.707_714del, NG_029719.1:g.708_714del, NG_029719.1:g.709_714del, NG_029719.1:g.710_714del, NG_029719.1:g.711_714del, NG_029719.1:g.712_714del, NG_029719.1:g.713_714del, NG_029719.1:g.714del, NG_029719.1:g.714dup, NG_029719.1:g.713_714dup, NG_029719.1:g.712_714dup, NG_029719.1:g.711_714dup, NG_029719.1:g.710_714dup, NG_029719.1:g.709_714dup, NG_029719.1:g.708_714dup, NG_029719.1:g.707_714dup, NG_029719.1:g.706_714dup, NG_029719.1:g.705_714dup, NG_029719.1:g.704_714dup, NG_029719.1:g.703_714dup, NG_029719.1:g.702_714dup, NG_029719.1:g.701_714dup, NG_029719.1:g.700_714dup, NG_029719.1:g.699_714dup, NG_029719.1:g.698_714dup, NG_029719.1:g.697_714dup, NG_029719.1:g.696_714dup, NG_029719.1:g.695_714dup, NG_029719.1:g.694_714dup, NG_029719.1:g.693_714dup, NG_029719.1:g.692_714dup, NG_029719.1:g.691_714dup, NG_029719.1:g.690_714dup, NG_029719.1:g.689_714dup, NG_029719.1:g.714_715insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029719.1:g.714_715insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913070504.

rs1491307050 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:63976764 (GRCh38)
20:62608117 (GRCh37)
Canonical SPDI:: NC_000020.11:63976763:CA:
Gene:: SAMD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.63976764_63976765del, NC_000020.10:g.62608117_62608118del, NG_029719.1:g.687_688del

Select item 14904931925.

rs1490493192 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 20:63974912 (GRCh38)
20:62606265 (GRCh37)
Canonical SPDI:: NC_000020.11:63974910:AAA:A
Gene:: SAMD10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63974912_63974913del, NC_000020.10:g.62606265_62606266del, XM_005260199.5:c.*598_*599del, XM_005260199.4:c.*598_*599del, XM_005260199.3:c.*598_*599del, XM_005260199.2:c.*598_*599del, XM_005260199.1:c.*598_*599del, NM_080621.5:c.*598_*599del, NM_080621.4:c.*598_*599del, XM_006723705.4:c.*598_*599del, XM_006723705.3:c.*598_*599del, XM_006723705.2:c.*598_*599del, XM_006723705.1:c.*598_*599del, XM_011528565.3:c.*598_*599del, XM_011528565.2:c.*598_*599del, XM_011528565.1:c.*598_*599del

Select item 14904206836.

rs1490420683 has merged into rs1375552828 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT [Show Flanks]
Chromosome:: 20:63974149 (GRCh38)
20:62605502 (GRCh37)
Canonical SPDI:: NC_000020.11:63974140:TTTTTTTTTTTT:TTTTTTTT,NC_000020.11:63974140:TTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:63974140:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:63974140:TTTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: SAMD10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.63974149_63974152del, NC_000020.11:g.63974151_63974152del, NC_000020.11:g.63974152del, NC_000020.11:g.63974152dup, NC_000020.10:g.62605502_62605505del, NC_000020.10:g.62605504_62605505del, NC_000020.10:g.62605505del, NC_000020.10:g.62605505dup, XM_005260199.5:c.*1366_*1369del, XM_005260199.5:c.*1368_*1369del, XM_005260199.5:c.*1369del, XM_005260199.5:c.*1369dup, XM_005260199.4:c.*1366_*1369del, XM_005260199.4:c.*1368_*1369del, XM_005260199.4:c.*1369del, XM_005260199.4:c.*1369dup, XM_005260199.3:c.*1366_*1369del, XM_005260199.3:c.*1368_*1369del, XM_005260199.3:c.*1369del, XM_005260199.3:c.*1369dup, XM_005260199.2:c.*1366_*1369del, XM_005260199.2:c.*1368_*1369del, XM_005260199.2:c.*1369del, XM_005260199.2:c.*1369dup, XM_005260199.1:c.*1366_*1369del, XM_005260199.1:c.*1368_*1369del, XM_005260199.1:c.*1369del, XM_005260199.1:c.*1369dup, NM_080621.5:c.*1366_*1369del, NM_080621.5:c.*1368_*1369del, NM_080621.5:c.*1369del, NM_080621.5:c.*1369dup, NM_080621.4:c.*1366_*1369del, NM_080621.4:c.*1368_*1369del, NM_080621.4:c.*1369del, NM_080621.4:c.*1369dup, XM_006723705.4:c.*1366_*1369del, XM_006723705.4:c.*1368_*1369del, XM_006723705.4:c.*1369del, XM_006723705.4:c.*1369dup, XM_006723705.3:c.*1366_*1369del, XM_006723705.3:c.*1368_*1369del, XM_006723705.3:c.*1369del, XM_006723705.3:c.*1369dup, XM_006723705.2:c.*1366_*1369del, XM_006723705.2:c.*1368_*1369del, XM_006723705.2:c.*1369del, XM_006723705.2:c.*1369dup, XM_006723705.1:c.*1366_*1369del, XM_006723705.1:c.*1368_*1369del, XM_006723705.1:c.*1369del, XM_006723705.1:c.*1369dup, XM_011528565.3:c.*1366_*1369del, XM_011528565.3:c.*1368_*1369del, XM_011528565.3:c.*1369del, XM_011528565.3:c.*1369dup, XM_011528565.2:c.*1366_*1369del, XM_011528565.2:c.*1368_*1369del, XM_011528565.2:c.*1369del, XM_011528565.2:c.*1369dup, XM_011528565.1:c.*1366_*1369del, XM_011528565.1:c.*1368_*1369del, XM_011528565.1:c.*1369del, XM_011528565.1:c.*1369dup

Select item 14900007427.

rs1490000742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63975269 (GRCh38)
20:62606622 (GRCh37)
Canonical SPDI:: NC_000020.11:63975268:G:A
Gene:: SAMD10 (Varview)
Functional Consequence:: 3_prime_UTR_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_000020.11:g.63975269G>A, NC_000020.10:g.62606622G>A, XM_005260199.5:c.*241C>T, XM_005260199.4:c.*241C>T, XM_005260199.3:c.*241C>T, XM_005260199.2:c.*241C>T, XM_005260199.1:c.*241C>T, NM_080621.5:c.*241C>T, NM_080621.4:c.*241C>T, XM_006723705.4:c.*241C>T, XM_006723705.3:c.*241C>T, XM_006723705.2:c.*241C>T, XM_006723705.1:c.*241C>T, XM_011528565.3:c.*241C>T, XM_011528565.2:c.*241C>T, XM_011528565.1:c.*241C>T

Select item 14899300278.

rs1489930027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63974554 (GRCh38)
20:62605907 (GRCh37)
Canonical SPDI:: NC_000020.11:63974553:C:T
Gene:: SAMD10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.63974554C>T, NC_000020.10:g.62605907C>T, XM_005260199.5:c.*956G>A, XM_005260199.4:c.*956G>A, XM_005260199.3:c.*956G>A, XM_005260199.2:c.*956G>A, XM_005260199.1:c.*956G>A, NM_080621.5:c.*956G>A, NM_080621.4:c.*956G>A, XM_006723705.4:c.*956G>A, XM_006723705.3:c.*956G>A, XM_006723705.2:c.*956G>A, XM_006723705.1:c.*956G>A, XM_011528565.3:c.*956G>A, XM_011528565.2:c.*956G>A, XM_011528565.1:c.*956G>A

Select item 14897900859.

rs1489790085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63976677 (GRCh38)
20:62608030 (GRCh37)
Canonical SPDI:: NC_000020.11:63976676:G:A
Gene:: SAMD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000020.11:g.63976677G>A, NC_000020.10:g.62608030G>A, NG_029719.1:g.600G>A

Select item 148965502410.

rs1489655024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63974496 (GRCh38)
20:62605849 (GRCh37)
Canonical SPDI:: NC_000020.11:63974495:G:A
Gene:: SAMD10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.63974496G>A, NC_000020.10:g.62605849G>A, XM_005260199.5:c.*1014C>T, XM_005260199.4:c.*1014C>T, XM_005260199.3:c.*1014C>T, XM_005260199.2:c.*1014C>T, XM_005260199.1:c.*1014C>T, NM_080621.5:c.*1014C>T, NM_080621.4:c.*1014C>T, XM_006723705.4:c.*1014C>T, XM_006723705.3:c.*1014C>T, XM_006723705.2:c.*1014C>T, XM_006723705.1:c.*1014C>T, XM_011528565.3:c.*1014C>T, XM_011528565.2:c.*1014C>T, XM_011528565.1:c.*1014C>T

Select item 148933229911.

rs1489332299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63979786 (GRCh38)
20:62611139 (GRCh37)
Canonical SPDI:: NC_000020.11:63979785:C:T
Gene:: PRPF6 (Varview), SAMD10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63979786C>T, NC_000020.10:g.62611139C>T, NG_029719.1:g.3709C>T

Select item 148928065712.

rs1489280657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:63978977 (GRCh38)
20:62610330 (GRCh37)
Canonical SPDI:: NC_000020.11:63978976:G:C
Gene:: SAMD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63978977G>C, NC_000020.10:g.62610330G>C, NG_029719.1:g.2900G>C, NG_060757.1:g.282G>C

Select item 148913950413.

rs1489139504 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 20:63980151 (GRCh38)
20:62611504 (GRCh37)
Canonical SPDI:: NC_000020.11:63980146:GTGTGT:GTGT
Gene:: PRPF6 (Varview), SAMD10 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000020.11:g.63980147GT[2], NC_000020.10:g.62611500GT[2], NG_029719.1:g.4070GT[2]

Select item 148801366014.

rs1488013660 has merged into rs1404804105 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 20:63982382 (GRCh38)
20:62613735 (GRCh37)
Canonical SPDI:: NC_000020.11:63982381:GGGGGG:GGGGG,NC_000020.11:63982381:GGGGGG:GGGGGGG
Gene:: PRPF6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0.00011/2 (ALFA)
-=0.00014/2 (TOMMO)
-=0.00045/2 (Estonian)
HGVS:: NC_000020.11:g.63982387del, NC_000020.11:g.63982387dup, NC_000020.10:g.62613740del, NC_000020.10:g.62613740dup, NG_029719.1:g.6310del, NG_029719.1:g.6310dup

Select item 148698362315.

rs1486983623 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 20:63979319 (GRCh38)
20:62610672 (GRCh37)
Canonical SPDI:: NC_000020.11:63979318:C:
Gene:: PRPF6 (Varview), SAMD10 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.63979319del, NC_000020.10:g.62610672del, NG_029719.1:g.3242del

Select item 148659593616.

rs1486595936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:63981237 (GRCh38)
20:62612590 (GRCh37)
Canonical SPDI:: NC_000020.11:63981236:G:T
Gene:: PRPF6 (Varview), SAMD10 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.63981237G>T, NC_000020.10:g.62612590G>T, NG_029719.1:g.5160G>T, NM_012469.4:c.-9G>T, NM_012469.3:c.-9G>T, XM_006723769.4:c.-9G>T, XM_006723769.3:c.-9G>T, XM_006723769.2:c.-9G>T, XM_006723769.1:c.-9G>T, XR_007067448.1:n.106G>T

Select item 148644293617.

rs1486442936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:63973839 (GRCh38)
20:62605192 (GRCh37)
Canonical SPDI:: NC_000020.11:63973838:C:G
Gene:: SAMD10 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000020.11:g.63973839C>G, NC_000020.10:g.62605192C>G

Select item 148627770618.

rs1486277706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63976848 (GRCh38)
20:62608201 (GRCh37)
Canonical SPDI:: NC_000020.11:63976847:T:C
Gene:: SAMD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.63976848T>C, NC_000020.10:g.62608201T>C, NG_029719.1:g.771T>C

Select item 148604355819.

rs1486043558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63977190 (GRCh38)
20:62608543 (GRCh37)
Canonical SPDI:: NC_000020.11:63977189:G:A
Gene:: SAMD10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.63977190G>A, NC_000020.10:g.62608543G>A, NG_029719.1:g.1113G>A

Select item 148583982420.

rs1485839824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63975348 (GRCh38)
20:62606701 (GRCh37)
Canonical SPDI:: NC_000020.11:63975347:G:A
Gene:: SAMD10 (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=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.63975348G>A, NC_000020.10:g.62606701G>A, XM_005260199.5:c.*162C>T, XM_005260199.4:c.*162C>T, XM_005260199.3:c.*162C>T, XM_005260199.2:c.*162C>T, XM_005260199.1:c.*162C>T, NM_080621.5:c.*162C>T, NM_080621.4:c.*162C>T, XM_006723705.4:c.*162C>T, XM_006723705.3:c.*162C>T, XM_006723705.2:c.*162C>T, XM_006723705.1:c.*162C>T, XM_011528565.3:c.*162C>T, XM_011528565.2:c.*162C>T, XM_011528565.1:c.*162C>T

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