SNP Links for Nucleotide (Select 294489302) - SNP

Links from Nucleotide

Items: 1 to 20 of 15149

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Select item 14915868791.

rs1491586879 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:36930085 (GRCh38)
20:35558488 (GRCh37)
Canonical SPDI:: NC_000020.11:36930084:CA:
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00059/7 (ALFA)
-=0.00105/20 (GnomAD)
HGVS:: NC_000020.11:g.36930085_36930086del, NC_000020.10:g.35558488_35558489del, NG_017059.1:g.26758_26759del

Select item 14915560372.

rs1491556037 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:36889909 (GRCh38)
20:35518312 (GRCh37)
Canonical SPDI:: NC_000020.11:36889908:AT:
Gene:: SAMHD1 (Varview), TLDC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000020.11:g.36889909_36889910del, NC_000020.10:g.35518312_35518313del, NG_017059.1:g.66934_66935del, NM_001363729.2:c.*3022_*3023del

Select item 14915042333.

rs1491504233 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:36937140 (GRCh38)
20:35565543 (GRCh37)
Canonical SPDI:: NC_000020.11:36937139:CA:
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.36937140_36937141del, NC_000020.10:g.35565543_35565544del, NG_017059.1:g.19703_19704del

Select item 14914928754.

rs1491492875 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTGTG,GGTGTGTG [Show Flanks]
Chromosome:: 20:36947551 (GRCh38)
20:35575955 (GRCh37)
Canonical SPDI:: NC_000020.11:36947551:GTG:GTGGGTGTG,NC_000020.11:36947551:GTG:GTGGGTGTGTG
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGGGTGTGTG=0./0 (ALFA)
HGVS:: NC_000020.11:g.36947554_36947555insGGTGTG, NC_000020.11:g.36947554_36947555insGGTGTGTG, NC_000020.10:g.35575957_35575958insGGTGTG, NC_000020.10:g.35575957_35575958insGGTGTGTG, NG_017059.1:g.9290_9292CA[2]CCCAC[1], NG_017059.1:g.9290_9292CA[3]CCCAC[1]

Select item 14914892375.

rs1491489237 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:36913757 (GRCh38)
20:35542161 (GRCh37)
Canonical SPDI:: NC_000020.11:36913757::C
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.0002/1 (GnomAD)
HGVS:: NC_000020.11:g.36913757_36913758insC, NC_000020.10:g.35542160_35542161insC, NG_017059.1:g.43086_43087insG

Select item 14914808886.

rs1491480888 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:36949755 (GRCh38)
20:35578158 (GRCh37)
Canonical SPDI:: NC_000020.11:36949754:CA:
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000020.11:g.36949755_36949756del, NC_000020.10:g.35578158_35578159del, NG_017059.1:g.7088_7089del

Select item 14914747497.

rs1491474749 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:36918801 (GRCh38)
20:35547204 (GRCh37)
Canonical SPDI:: NC_000020.11:36918800:CA:
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00101/12 (ALFA)
-=0.0009/23 (TOMMO)
HGVS:: NC_000020.11:g.36918801_36918802del, NC_000020.10:g.35547204_35547205del, NG_017059.1:g.38042_38043del

Select item 14914694298.

rs1491469429 has merged into rs35178473 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTATTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:36913769 (GRCh38)
20:35542172 (GRCh37)
Canonical SPDI:: NC_000020.11:36913756:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:36913756:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:36913756:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:36913756:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:36913756:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:36913756:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:36913756:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:36913756:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36913756:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTT,NC_000020.11:36913756:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3201/1603 (1000Genomes)
HGVS:: NC_000020.11:g.36913769_36913772del, NC_000020.11:g.36913770_36913772del, NC_000020.11:g.36913771_36913772del, NC_000020.11:g.36913772del, NC_000020.11:g.36913772dup, NC_000020.11:g.36913771_36913772dup, NC_000020.11:g.36913770_36913772dup, NC_000020.11:g.36913768_36913772dup, NC_000020.11:g.36913757_36913772T[21]ATTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.36913760_36913772dup, NC_000020.10:g.35542172_35542175del, NC_000020.10:g.35542173_35542175del, NC_000020.10:g.35542174_35542175del, NC_000020.10:g.35542175del, NC_000020.10:g.35542175dup, NC_000020.10:g.35542174_35542175dup, NC_000020.10:g.35542173_35542175dup, NC_000020.10:g.35542171_35542175dup, NC_000020.10:g.35542160_35542175T[21]ATTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.35542163_35542175dup, NG_017059.1:g.43084_43087del, NG_017059.1:g.43085_43087del, NG_017059.1:g.43086_43087del, NG_017059.1:g.43087del, NG_017059.1:g.43087dup, NG_017059.1:g.43086_43087dup, NG_017059.1:g.43085_43087dup, NG_017059.1:g.43083_43087dup, NG_017059.1:g.43072_43087A[18]TAAAAAAAAAAAAAAAAAAAAA[1], NG_017059.1:g.43075_43087dup

Select item 14914386739.

rs1491438673 has merged into rs57902699 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:36898918 (GRCh38)
20:35527321 (GRCh37)
Canonical SPDI:: NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36898910:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.36898918_36898931del, NC_000020.11:g.36898920_36898931del, NC_000020.11:g.36898921_36898931del, NC_000020.11:g.36898922_36898931del, NC_000020.11:g.36898923_36898931del, NC_000020.11:g.36898924_36898931del, NC_000020.11:g.36898925_36898931del, NC_000020.11:g.36898927_36898931del, NC_000020.11:g.36898928_36898931del, NC_000020.11:g.36898929_36898931del, NC_000020.11:g.36898930_36898931del, NC_000020.11:g.36898931del, NC_000020.11:g.36898931dup, NC_000020.11:g.36898930_36898931dup, NC_000020.11:g.36898929_36898931dup, NC_000020.11:g.36898928_36898931dup, NC_000020.11:g.36898927_36898931dup, NC_000020.11:g.36898926_36898931dup, NC_000020.11:g.36898925_36898931dup, NC_000020.11:g.36898924_36898931dup, NC_000020.11:g.36898923_36898931dup, NC_000020.11:g.36898920_36898931dup, NC_000020.11:g.36898919_36898931dup, NC_000020.11:g.36898918_36898931dup, NC_000020.11:g.36898914_36898931dup, NC_000020.10:g.35527321_35527334del, NC_000020.10:g.35527323_35527334del, NC_000020.10:g.35527324_35527334del, NC_000020.10:g.35527325_35527334del, NC_000020.10:g.35527326_35527334del, NC_000020.10:g.35527327_35527334del, NC_000020.10:g.35527328_35527334del, NC_000020.10:g.35527330_35527334del, NC_000020.10:g.35527331_35527334del, NC_000020.10:g.35527332_35527334del, NC_000020.10:g.35527333_35527334del, NC_000020.10:g.35527334del, NC_000020.10:g.35527334dup, NC_000020.10:g.35527333_35527334dup, NC_000020.10:g.35527332_35527334dup, NC_000020.10:g.35527331_35527334dup, NC_000020.10:g.35527330_35527334dup, NC_000020.10:g.35527329_35527334dup, NC_000020.10:g.35527328_35527334dup, NC_000020.10:g.35527327_35527334dup, NC_000020.10:g.35527326_35527334dup, NC_000020.10:g.35527323_35527334dup, NC_000020.10:g.35527322_35527334dup, NC_000020.10:g.35527321_35527334dup, NC_000020.10:g.35527317_35527334dup, NG_017059.1:g.57920_57933del, NG_017059.1:g.57922_57933del, NG_017059.1:g.57923_57933del, NG_017059.1:g.57924_57933del, NG_017059.1:g.57925_57933del, NG_017059.1:g.57926_57933del, NG_017059.1:g.57927_57933del, NG_017059.1:g.57929_57933del, NG_017059.1:g.57930_57933del, NG_017059.1:g.57931_57933del, NG_017059.1:g.57932_57933del, NG_017059.1:g.57933del, NG_017059.1:g.57933dup, NG_017059.1:g.57932_57933dup, NG_017059.1:g.57931_57933dup, NG_017059.1:g.57930_57933dup, NG_017059.1:g.57929_57933dup, NG_017059.1:g.57928_57933dup, NG_017059.1:g.57927_57933dup, NG_017059.1:g.57926_57933dup, NG_017059.1:g.57925_57933dup, NG_017059.1:g.57922_57933dup, NG_017059.1:g.57921_57933dup, NG_017059.1:g.57920_57933dup, NG_017059.1:g.57916_57933dup

Select item 149143089910.

rs1491430899 has merged into rs34682795 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:36949760 (GRCh38)
20:35578163 (GRCh37)
Canonical SPDI:: NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36949755:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.36949760_36949779del, NC_000020.11:g.36949767_36949779del, NC_000020.11:g.36949768_36949779del, NC_000020.11:g.36949769_36949779del, NC_000020.11:g.36949770_36949779del, NC_000020.11:g.36949771_36949779del, NC_000020.11:g.36949772_36949779del, NC_000020.11:g.36949773_36949779del, NC_000020.11:g.36949774_36949779del, NC_000020.11:g.36949775_36949779del, NC_000020.11:g.36949776_36949779del, NC_000020.11:g.36949777_36949779del, NC_000020.11:g.36949778_36949779del, NC_000020.11:g.36949779del, NC_000020.11:g.36949779dup, NC_000020.11:g.36949778_36949779dup, NC_000020.11:g.36949777_36949779dup, NC_000020.11:g.36949776_36949779dup, NC_000020.11:g.36949775_36949779dup, NC_000020.11:g.36949774_36949779dup, NC_000020.11:g.36949773_36949779dup, NC_000020.11:g.36949769_36949779dup, NC_000020.11:g.36949768_36949779dup, NC_000020.11:g.36949767_36949779dup, NC_000020.11:g.36949765_36949779dup, NC_000020.11:g.36949756_36949779dup, NC_000020.11:g.36949779_36949780insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.35578163_35578182del, NC_000020.10:g.35578170_35578182del, NC_000020.10:g.35578171_35578182del, NC_000020.10:g.35578172_35578182del, NC_000020.10:g.35578173_35578182del, NC_000020.10:g.35578174_35578182del, NC_000020.10:g.35578175_35578182del, NC_000020.10:g.35578176_35578182del, NC_000020.10:g.35578177_35578182del, NC_000020.10:g.35578178_35578182del, NC_000020.10:g.35578179_35578182del, NC_000020.10:g.35578180_35578182del, NC_000020.10:g.35578181_35578182del, NC_000020.10:g.35578182del, NC_000020.10:g.35578182dup, NC_000020.10:g.35578181_35578182dup, NC_000020.10:g.35578180_35578182dup, NC_000020.10:g.35578179_35578182dup, NC_000020.10:g.35578178_35578182dup, NC_000020.10:g.35578177_35578182dup, NC_000020.10:g.35578176_35578182dup, NC_000020.10:g.35578172_35578182dup, NC_000020.10:g.35578171_35578182dup, NC_000020.10:g.35578170_35578182dup, NC_000020.10:g.35578168_35578182dup, NC_000020.10:g.35578159_35578182dup, NC_000020.10:g.35578182_35578183insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_017059.1:g.7069_7088del, NG_017059.1:g.7076_7088del, NG_017059.1:g.7077_7088del, NG_017059.1:g.7078_7088del, NG_017059.1:g.7079_7088del, NG_017059.1:g.7080_7088del, NG_017059.1:g.7081_7088del, NG_017059.1:g.7082_7088del, NG_017059.1:g.7083_7088del, NG_017059.1:g.7084_7088del, NG_017059.1:g.7085_7088del, NG_017059.1:g.7086_7088del, NG_017059.1:g.7087_7088del, NG_017059.1:g.7088del, NG_017059.1:g.7088dup, NG_017059.1:g.7087_7088dup, NG_017059.1:g.7086_7088dup, NG_017059.1:g.7085_7088dup, NG_017059.1:g.7084_7088dup, NG_017059.1:g.7083_7088dup, NG_017059.1:g.7082_7088dup, NG_017059.1:g.7078_7088dup, NG_017059.1:g.7077_7088dup, NG_017059.1:g.7076_7088dup, NG_017059.1:g.7074_7088dup, NG_017059.1:g.7065_7088dup, NG_017059.1:g.7088_7089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149140363411.

rs1491403634 has merged into rs34384942 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:36921401 (GRCh38)
20:35549804 (GRCh37)
Canonical SPDI:: NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36921392:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.36921401_36921412del, NC_000020.11:g.36921403_36921412del, NC_000020.11:g.36921404_36921412del, NC_000020.11:g.36921406_36921412del, NC_000020.11:g.36921407_36921412del, NC_000020.11:g.36921408_36921412del, NC_000020.11:g.36921410_36921412del, NC_000020.11:g.36921411_36921412del, NC_000020.11:g.36921412del, NC_000020.11:g.36921412dup, NC_000020.11:g.36921411_36921412dup, NC_000020.11:g.36921410_36921412dup, NC_000020.11:g.36921409_36921412dup, NC_000020.11:g.36921408_36921412dup, NC_000020.11:g.36921407_36921412dup, NC_000020.11:g.36921406_36921412dup, NC_000020.10:g.35549804_35549815del, NC_000020.10:g.35549806_35549815del, NC_000020.10:g.35549807_35549815del, NC_000020.10:g.35549809_35549815del, NC_000020.10:g.35549810_35549815del, NC_000020.10:g.35549811_35549815del, NC_000020.10:g.35549813_35549815del, NC_000020.10:g.35549814_35549815del, NC_000020.10:g.35549815del, NC_000020.10:g.35549815dup, NC_000020.10:g.35549814_35549815dup, NC_000020.10:g.35549813_35549815dup, NC_000020.10:g.35549812_35549815dup, NC_000020.10:g.35549811_35549815dup, NC_000020.10:g.35549810_35549815dup, NC_000020.10:g.35549809_35549815dup, NG_017059.1:g.35440_35451del, NG_017059.1:g.35442_35451del, NG_017059.1:g.35443_35451del, NG_017059.1:g.35445_35451del, NG_017059.1:g.35446_35451del, NG_017059.1:g.35447_35451del, NG_017059.1:g.35449_35451del, NG_017059.1:g.35450_35451del, NG_017059.1:g.35451del, NG_017059.1:g.35451dup, NG_017059.1:g.35450_35451dup, NG_017059.1:g.35449_35451dup, NG_017059.1:g.35448_35451dup, NG_017059.1:g.35447_35451dup, NG_017059.1:g.35446_35451dup, NG_017059.1:g.35445_35451dup

Select item 149134977512.

rs1491349775 [Homo sapiens]

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

Select item 149132918813.

rs1491329188 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 20:36937860 (GRCh38)
20:35566263 (GRCh37)
Canonical SPDI:: NC_000020.11:36937858:TGT:T
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000245/4 (ALFA)
-=0.000312/2 (1000Genomes)
-=0.000708/11 (TOMMO)
-=0.001241/126 (GnomAD)
-=0.003333/2 (NorthernSweden)
HGVS:: NC_000020.11:g.36937860_36937861del, NC_000020.10:g.35566263_35566264del, NG_017059.1:g.18984_18985del

Select item 149132773414.

rs1491327734 has merged into rs60403097 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:36918811 (GRCh38)
20:35547214 (GRCh37)
Canonical SPDI:: NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36918801:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.36918811_36918824del, NC_000020.11:g.36918812_36918824del, NC_000020.11:g.36918813_36918824del, NC_000020.11:g.36918814_36918824del, NC_000020.11:g.36918815_36918824del, NC_000020.11:g.36918816_36918824del, NC_000020.11:g.36918817_36918824del, NC_000020.11:g.36918818_36918824del, NC_000020.11:g.36918819_36918824del, NC_000020.11:g.36918820_36918824del, NC_000020.11:g.36918821_36918824del, NC_000020.11:g.36918822_36918824del, NC_000020.11:g.36918823_36918824del, NC_000020.11:g.36918824del, NC_000020.11:g.36918824dup, NC_000020.11:g.36918823_36918824dup, NC_000020.11:g.36918822_36918824dup, NC_000020.11:g.36918821_36918824dup, NC_000020.11:g.36918820_36918824dup, NC_000020.11:g.36918819_36918824dup, NC_000020.11:g.36918818_36918824dup, NC_000020.11:g.36918817_36918824dup, NC_000020.11:g.36918816_36918824dup, NC_000020.11:g.36918815_36918824dup, NC_000020.11:g.36918814_36918824dup, NC_000020.11:g.36918813_36918824dup, NC_000020.11:g.36918812_36918824dup, NC_000020.11:g.36918811_36918824dup, NC_000020.11:g.36918810_36918824dup, NC_000020.11:g.36918809_36918824dup, NC_000020.11:g.36918808_36918824dup, NC_000020.11:g.36918807_36918824dup, NC_000020.11:g.36918806_36918824dup, NC_000020.11:g.36918804_36918824dup, NC_000020.11:g.36918803_36918824dup, NC_000020.11:g.36918802_36918824dup, NC_000020.11:g.36918824_36918825insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.35547214_35547227del, NC_000020.10:g.35547215_35547227del, NC_000020.10:g.35547216_35547227del, NC_000020.10:g.35547217_35547227del, NC_000020.10:g.35547218_35547227del, NC_000020.10:g.35547219_35547227del, NC_000020.10:g.35547220_35547227del, NC_000020.10:g.35547221_35547227del, NC_000020.10:g.35547222_35547227del, NC_000020.10:g.35547223_35547227del, NC_000020.10:g.35547224_35547227del, NC_000020.10:g.35547225_35547227del, NC_000020.10:g.35547226_35547227del, NC_000020.10:g.35547227del, NC_000020.10:g.35547227dup, NC_000020.10:g.35547226_35547227dup, NC_000020.10:g.35547225_35547227dup, NC_000020.10:g.35547224_35547227dup, NC_000020.10:g.35547223_35547227dup, NC_000020.10:g.35547222_35547227dup, NC_000020.10:g.35547221_35547227dup, NC_000020.10:g.35547220_35547227dup, NC_000020.10:g.35547219_35547227dup, NC_000020.10:g.35547218_35547227dup, NC_000020.10:g.35547217_35547227dup, NC_000020.10:g.35547216_35547227dup, NC_000020.10:g.35547215_35547227dup, NC_000020.10:g.35547214_35547227dup, NC_000020.10:g.35547213_35547227dup, NC_000020.10:g.35547212_35547227dup, NC_000020.10:g.35547211_35547227dup, NC_000020.10:g.35547210_35547227dup, NC_000020.10:g.35547209_35547227dup, NC_000020.10:g.35547207_35547227dup, NC_000020.10:g.35547206_35547227dup, NC_000020.10:g.35547205_35547227dup, NC_000020.10:g.35547227_35547228insAAAAAAAAAAAAAAAAAAAAAAAA, NG_017059.1:g.38029_38042del, NG_017059.1:g.38030_38042del, NG_017059.1:g.38031_38042del, NG_017059.1:g.38032_38042del, NG_017059.1:g.38033_38042del, NG_017059.1:g.38034_38042del, NG_017059.1:g.38035_38042del, NG_017059.1:g.38036_38042del, NG_017059.1:g.38037_38042del, NG_017059.1:g.38038_38042del, NG_017059.1:g.38039_38042del, NG_017059.1:g.38040_38042del, NG_017059.1:g.38041_38042del, NG_017059.1:g.38042del, NG_017059.1:g.38042dup, NG_017059.1:g.38041_38042dup, NG_017059.1:g.38040_38042dup, NG_017059.1:g.38039_38042dup, NG_017059.1:g.38038_38042dup, NG_017059.1:g.38037_38042dup, NG_017059.1:g.38036_38042dup, NG_017059.1:g.38035_38042dup, NG_017059.1:g.38034_38042dup, NG_017059.1:g.38033_38042dup, NG_017059.1:g.38032_38042dup, NG_017059.1:g.38031_38042dup, NG_017059.1:g.38030_38042dup, NG_017059.1:g.38029_38042dup, NG_017059.1:g.38028_38042dup, NG_017059.1:g.38027_38042dup, NG_017059.1:g.38026_38042dup, NG_017059.1:g.38025_38042dup, NG_017059.1:g.38024_38042dup, NG_017059.1:g.38022_38042dup, NG_017059.1:g.38021_38042dup, NG_017059.1:g.38020_38042dup, NG_017059.1:g.38042_38043insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149130943415.

rs1491309434 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:36921392 (GRCh38)
20:35549795 (GRCh37)
Canonical SPDI:: NC_000020.11:36921391:CA:
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.36921392_36921393del, NC_000020.10:g.35549795_35549796del, NG_017059.1:g.35451_35452del

Select item 149126891816.

rs1491268918 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG [Show Flanks]
Chromosome:: 20:36947549 (GRCh38)
20:35575953 (GRCh37)
Canonical SPDI:: NC_000020.11:36947549:G:GTG,NC_000020.11:36947549:G:GTGTG,NC_000020.11:36947549:G:GTGTGTG,NC_000020.11:36947549:G:GTGTGTGTG,NC_000020.11:36947549:G:GTGTGTGTGTG
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTG=0./0 (ALFA)
HGVS:: NC_000020.11:g.36947550_36947551insTG, NC_000020.11:g.36947550_36947551insTGTG, NC_000020.11:g.36947551TG[3], NC_000020.11:g.36947551TG[4], NC_000020.11:g.36947551TG[5], NC_000020.10:g.35575953_35575954insTG, NC_000020.10:g.35575953_35575954insTGTG, NC_000020.10:g.35575954TG[3], NC_000020.10:g.35575954TG[4], NC_000020.10:g.35575954TG[5], NG_017059.1:g.9294_9295insAC, NG_017059.1:g.9294_9295insACAC, NG_017059.1:g.9295AC[3], NG_017059.1:g.9295AC[4], NG_017059.1:g.9295AC[5]

Select item 149117960317.

rs1491179603 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:36894244 (GRCh38)
20:35522648 (GRCh37)
Canonical SPDI:: NC_000020.11:36894244:A:AA
Gene:: SAMHD1 (Varview), TLDC2 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000011/1 (GnomAD)
HGVS:: NC_000020.11:g.36894245dup, NC_000020.10:g.35522648dup, NG_017059.1:g.62599dup

Select item 149110229618.

rs1491102296 has merged into rs1178988134 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:36939085 (GRCh38)
20:35567488 (GRCh37)
Canonical SPDI:: NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36939075:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.36939085_36939104del, NC_000020.11:g.36939087_36939104del, NC_000020.11:g.36939089_36939104del, NC_000020.11:g.36939091_36939104del, NC_000020.11:g.36939092_36939104del, NC_000020.11:g.36939093_36939104del, NC_000020.11:g.36939094_36939104del, NC_000020.11:g.36939095_36939104del, NC_000020.11:g.36939096_36939104del, NC_000020.11:g.36939097_36939104del, NC_000020.11:g.36939098_36939104del, NC_000020.11:g.36939099_36939104del, NC_000020.11:g.36939100_36939104del, NC_000020.11:g.36939101_36939104del, NC_000020.11:g.36939102_36939104del, NC_000020.11:g.36939103_36939104del, NC_000020.11:g.36939104del, NC_000020.11:g.36939104dup, NC_000020.11:g.36939103_36939104dup, NC_000020.11:g.36939102_36939104dup, NC_000020.11:g.36939101_36939104dup, NC_000020.11:g.36939100_36939104dup, NC_000020.11:g.36939099_36939104dup, NC_000020.11:g.36939098_36939104dup, NC_000020.11:g.36939097_36939104dup, NC_000020.11:g.36939096_36939104dup, NC_000020.11:g.36939095_36939104dup, NC_000020.11:g.36939094_36939104dup, NC_000020.11:g.36939093_36939104dup, NC_000020.11:g.36939092_36939104dup, NC_000020.11:g.36939091_36939104dup, NC_000020.11:g.36939090_36939104dup, NC_000020.11:g.36939089_36939104dup, NC_000020.11:g.36939088_36939104dup, NC_000020.11:g.36939087_36939104dup, NC_000020.11:g.36939086_36939104dup, NC_000020.11:g.36939085_36939104dup, NC_000020.11:g.36939084_36939104dup, NC_000020.11:g.36939083_36939104dup, NC_000020.10:g.35567488_35567507del, NC_000020.10:g.35567490_35567507del, NC_000020.10:g.35567492_35567507del, NC_000020.10:g.35567494_35567507del, NC_000020.10:g.35567495_35567507del, NC_000020.10:g.35567496_35567507del, NC_000020.10:g.35567497_35567507del, NC_000020.10:g.35567498_35567507del, NC_000020.10:g.35567499_35567507del, NC_000020.10:g.35567500_35567507del, NC_000020.10:g.35567501_35567507del, NC_000020.10:g.35567502_35567507del, NC_000020.10:g.35567503_35567507del, NC_000020.10:g.35567504_35567507del, NC_000020.10:g.35567505_35567507del, NC_000020.10:g.35567506_35567507del, NC_000020.10:g.35567507del, NC_000020.10:g.35567507dup, NC_000020.10:g.35567506_35567507dup, NC_000020.10:g.35567505_35567507dup, NC_000020.10:g.35567504_35567507dup, NC_000020.10:g.35567503_35567507dup, NC_000020.10:g.35567502_35567507dup, NC_000020.10:g.35567501_35567507dup, NC_000020.10:g.35567500_35567507dup, NC_000020.10:g.35567499_35567507dup, NC_000020.10:g.35567498_35567507dup, NC_000020.10:g.35567497_35567507dup, NC_000020.10:g.35567496_35567507dup, NC_000020.10:g.35567495_35567507dup, NC_000020.10:g.35567494_35567507dup, NC_000020.10:g.35567493_35567507dup, NC_000020.10:g.35567492_35567507dup, NC_000020.10:g.35567491_35567507dup, NC_000020.10:g.35567490_35567507dup, NC_000020.10:g.35567489_35567507dup, NC_000020.10:g.35567488_35567507dup, NC_000020.10:g.35567487_35567507dup, NC_000020.10:g.35567486_35567507dup, NG_017059.1:g.17749_17768del, NG_017059.1:g.17751_17768del, NG_017059.1:g.17753_17768del, NG_017059.1:g.17755_17768del, NG_017059.1:g.17756_17768del, NG_017059.1:g.17757_17768del, NG_017059.1:g.17758_17768del, NG_017059.1:g.17759_17768del, NG_017059.1:g.17760_17768del, NG_017059.1:g.17761_17768del, NG_017059.1:g.17762_17768del, NG_017059.1:g.17763_17768del, NG_017059.1:g.17764_17768del, NG_017059.1:g.17765_17768del, NG_017059.1:g.17766_17768del, NG_017059.1:g.17767_17768del, NG_017059.1:g.17768del, NG_017059.1:g.17768dup, NG_017059.1:g.17767_17768dup, NG_017059.1:g.17766_17768dup, NG_017059.1:g.17765_17768dup, NG_017059.1:g.17764_17768dup, NG_017059.1:g.17763_17768dup, NG_017059.1:g.17762_17768dup, NG_017059.1:g.17761_17768dup, NG_017059.1:g.17760_17768dup, NG_017059.1:g.17759_17768dup, NG_017059.1:g.17758_17768dup, NG_017059.1:g.17757_17768dup, NG_017059.1:g.17756_17768dup, NG_017059.1:g.17755_17768dup, NG_017059.1:g.17754_17768dup, NG_017059.1:g.17753_17768dup, NG_017059.1:g.17752_17768dup, NG_017059.1:g.17751_17768dup, NG_017059.1:g.17750_17768dup, NG_017059.1:g.17749_17768dup, NG_017059.1:g.17748_17768dup, NG_017059.1:g.17747_17768dup

Select item 149110159619.

rs1491101596 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:36898910 (GRCh38)
20:35527313 (GRCh37)
Canonical SPDI:: NC_000020.11:36898909:CA:
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000020.11:g.36898910_36898911del, NC_000020.10:g.35527313_35527314del, NG_017059.1:g.57933_57934del

Select item 149108949920.

rs1491089499 has merged into rs11468025 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAACAAAAAAAAAAAAAAAAAA,AAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAACAAAAAAAAGAAAAAAAAAAAAAAAAAA,AAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:36930098 (GRCh38)
20:35558501 (GRCh37)
Canonical SPDI:: NC_000020.11:36930085:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:36930085:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:36930085:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:36930085:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:36930085:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:36930085:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:36930085:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36930085:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36930085:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAA,NC_000020.11:36930085:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36930085:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36930085:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAA,NC_000020.11:36930085:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:36930085:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAACAAAAAAAAGAAAAAAAAAAAAAAAAAA,NC_000020.11:36930085:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SAMHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.36930098_36930102del, NC_000020.11:g.36930099_36930102del, NC_000020.11:g.36930100_36930102del, NC_000020.11:g.36930101_36930102del, NC_000020.11:g.36930102del, NC_000020.11:g.36930102dup, NC_000020.11:g.36930089_36930102dup, NC_000020.11:g.36930086_36930102A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.36930086_36930102A[29]GAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.36930086_36930102A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.36930086_36930102A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.36930086_36930102A[21]CAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.36930086_36930102A[21]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.36930086_36930102A[19]CAAAAAAAAGAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.36930086_36930102A[18]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35558501_35558505del, NC_000020.10:g.35558502_35558505del, NC_000020.10:g.35558503_35558505del, NC_000020.10:g.35558504_35558505del, NC_000020.10:g.35558505del, NC_000020.10:g.35558505dup, NC_000020.10:g.35558492_35558505dup, NC_000020.10:g.35558489_35558505A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35558489_35558505A[29]GAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35558489_35558505A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35558489_35558505A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35558489_35558505A[21]CAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35558489_35558505A[21]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35558489_35558505A[19]CAAAAAAAAGAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.35558489_35558505A[18]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_017059.1:g.26754_26758del, NG_017059.1:g.26755_26758del, NG_017059.1:g.26756_26758del, NG_017059.1:g.26757_26758del, NG_017059.1:g.26758del, NG_017059.1:g.26758dup, NG_017059.1:g.26745_26758dup, NG_017059.1:g.26742_26758T[34]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_017059.1:g.26742_26758T[18]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_017059.1:g.26742_26758T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_017059.1:g.26742_26758T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_017059.1:g.26742_26758T[18]GTTTTTTTTTTTTTTTTTTTTT[1], NG_017059.1:g.26742_26758T[50]GTTTTTTTTTTTTTTTTTTTTT[1], NG_017059.1:g.26742_26758T[18]CTTTTTTTTGTTTTTTTTTTTTTTTTTTT[1], NG_017059.1:g.26742_26758T[32]CTTTTTTTTTTTTTTTTTT[1]

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