SNP Links for Nucleotide (Select 1046552737) - SNP

Links from Nucleotide

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Select item 14915272641.

rs1491527264 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:1906378 (GRCh38)
19:1906377 (GRCh37)
Canonical SPDI:: NC_000019.10:1906377:AT:
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1906378_1906379del, NC_000019.9:g.1906377_1906378del, NG_051211.1:g.6165_6166del

Select item 14913733192.

rs1491373319 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 19:1906866 (GRCh38)
19:1906865 (GRCh37)
Canonical SPDI:: NC_000019.10:1906865:TT:
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/1 (GnomAD)
HGVS:: NC_000019.10:g.1906866_1906867del, NC_000019.9:g.1906865_1906866del, NG_051211.1:g.6653_6654del

Select item 14913545023.

rs1491354502 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:1906889 (GRCh38)
19:1906888 (GRCh37)
Canonical SPDI:: NC_000019.10:1906888:TA:
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.1906889_1906890del, NC_000019.9:g.1906888_1906889del, NG_051211.1:g.6676_6677del

Select item 14913467284.

rs1491346728 has merged into rs66848678 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 19:1906880 (GRCh38)
19:1906879 (GRCh37)
Canonical SPDI:: NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:1906866:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.2057/1030 (1000Genomes)
HGVS:: NC_000019.10:g.1906868GT[6], NC_000019.10:g.1906868GT[7], NC_000019.10:g.1906868GT[8], NC_000019.10:g.1906868GT[9], NC_000019.10:g.1906868GT[10], NC_000019.10:g.1906868GT[12], NC_000019.10:g.1906868GT[13], NC_000019.10:g.1906868GT[14], NC_000019.10:g.1906868GT[15], NC_000019.10:g.1906868GT[16], NC_000019.10:g.1906868GT[17], NC_000019.10:g.1906868GT[18], NC_000019.10:g.1906868GT[19], NC_000019.10:g.1906868GT[20], NC_000019.10:g.1906868GT[21], NC_000019.10:g.1906868GT[22], NC_000019.10:g.1906868GT[23], NC_000019.10:g.1906868GT[24], NC_000019.10:g.1906868GT[25], NC_000019.10:g.1906868GT[26], NC_000019.10:g.1906868GT[27], NC_000019.10:g.1906868GT[29], NC_000019.9:g.1906867GT[6], NC_000019.9:g.1906867GT[7], NC_000019.9:g.1906867GT[8], NC_000019.9:g.1906867GT[9], NC_000019.9:g.1906867GT[10], NC_000019.9:g.1906867GT[12], NC_000019.9:g.1906867GT[13], NC_000019.9:g.1906867GT[14], NC_000019.9:g.1906867GT[15], NC_000019.9:g.1906867GT[16], NC_000019.9:g.1906867GT[17], NC_000019.9:g.1906867GT[18], NC_000019.9:g.1906867GT[19], NC_000019.9:g.1906867GT[20], NC_000019.9:g.1906867GT[21], NC_000019.9:g.1906867GT[22], NC_000019.9:g.1906867GT[23], NC_000019.9:g.1906867GT[24], NC_000019.9:g.1906867GT[25], NC_000019.9:g.1906867GT[26], NC_000019.9:g.1906867GT[27], NC_000019.9:g.1906867GT[29], NG_051211.1:g.6655GT[6], NG_051211.1:g.6655GT[7], NG_051211.1:g.6655GT[8], NG_051211.1:g.6655GT[9], NG_051211.1:g.6655GT[10], NG_051211.1:g.6655GT[12], NG_051211.1:g.6655GT[13], NG_051211.1:g.6655GT[14], NG_051211.1:g.6655GT[15], NG_051211.1:g.6655GT[16], NG_051211.1:g.6655GT[17], NG_051211.1:g.6655GT[18], NG_051211.1:g.6655GT[19], NG_051211.1:g.6655GT[20], NG_051211.1:g.6655GT[21], NG_051211.1:g.6655GT[22], NG_051211.1:g.6655GT[23], NG_051211.1:g.6655GT[24], NG_051211.1:g.6655GT[25], NG_051211.1:g.6655GT[26], NG_051211.1:g.6655GT[27], NG_051211.1:g.6655GT[29]

Select item 14913389215.

rs1491338921 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 19:1906867 (GRCh38)
19:1906867 (GRCh37)
Canonical SPDI:: NC_000019.10:1906867:G:GGG
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
HGVS:: NC_000019.10:g.1906868_1906869insGG, NC_000019.9:g.1906867_1906868insGG, NG_051211.1:g.6655_6656insGG

Select item 14912384496.

rs1491238449 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:1903549 (GRCh38)
19:1903549 (GRCh37)
Canonical SPDI:: NC_000019.10:1903549::G
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00017/2 (ALFA)
G=0.00513/49 (GnomAD)
HGVS:: NC_000019.10:g.1903549_1903550insG, NC_000019.9:g.1903548_1903549insG, NG_051211.1:g.3336_3337insG

Select item 14911925747.

rs1491192574 has merged into rs529136217 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:1903563 (GRCh38)
19:1903562 (GRCh37)
Canonical SPDI:: NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:1903548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.1903563_1903581del, NC_000019.10:g.1903564_1903581del, NC_000019.10:g.1903565_1903581del, NC_000019.10:g.1903566_1903581del, NC_000019.10:g.1903567_1903581del, NC_000019.10:g.1903568_1903581del, NC_000019.10:g.1903569_1903581del, NC_000019.10:g.1903570_1903581del, NC_000019.10:g.1903571_1903581del, NC_000019.10:g.1903572_1903581del, NC_000019.10:g.1903573_1903581del, NC_000019.10:g.1903574_1903581del, NC_000019.10:g.1903575_1903581del, NC_000019.10:g.1903576_1903581del, NC_000019.10:g.1903577_1903581del, NC_000019.10:g.1903578_1903581del, NC_000019.10:g.1903579_1903581del, NC_000019.10:g.1903580_1903581del, NC_000019.10:g.1903581del, NC_000019.10:g.1903581dup, NC_000019.10:g.1903580_1903581dup, NC_000019.10:g.1903579_1903581dup, NC_000019.10:g.1903578_1903581dup, NC_000019.10:g.1903577_1903581dup, NC_000019.10:g.1903576_1903581dup, NC_000019.10:g.1903575_1903581dup, NC_000019.10:g.1903574_1903581dup, NC_000019.10:g.1903573_1903581dup, NC_000019.10:g.1903568_1903581dup, NC_000019.9:g.1903562_1903580del, NC_000019.9:g.1903563_1903580del, NC_000019.9:g.1903564_1903580del, NC_000019.9:g.1903565_1903580del, NC_000019.9:g.1903566_1903580del, NC_000019.9:g.1903567_1903580del, NC_000019.9:g.1903568_1903580del, NC_000019.9:g.1903569_1903580del, NC_000019.9:g.1903570_1903580del, NC_000019.9:g.1903571_1903580del, NC_000019.9:g.1903572_1903580del, NC_000019.9:g.1903573_1903580del, NC_000019.9:g.1903574_1903580del, NC_000019.9:g.1903575_1903580del, NC_000019.9:g.1903576_1903580del, NC_000019.9:g.1903577_1903580del, NC_000019.9:g.1903578_1903580del, NC_000019.9:g.1903579_1903580del, NC_000019.9:g.1903580del, NC_000019.9:g.1903580dup, NC_000019.9:g.1903579_1903580dup, NC_000019.9:g.1903578_1903580dup, NC_000019.9:g.1903577_1903580dup, NC_000019.9:g.1903576_1903580dup, NC_000019.9:g.1903575_1903580dup, NC_000019.9:g.1903574_1903580dup, NC_000019.9:g.1903573_1903580dup, NC_000019.9:g.1903572_1903580dup, NC_000019.9:g.1903567_1903580dup, NG_051211.1:g.3350_3368del, NG_051211.1:g.3351_3368del, NG_051211.1:g.3352_3368del, NG_051211.1:g.3353_3368del, NG_051211.1:g.3354_3368del, NG_051211.1:g.3355_3368del, NG_051211.1:g.3356_3368del, NG_051211.1:g.3357_3368del, NG_051211.1:g.3358_3368del, NG_051211.1:g.3359_3368del, NG_051211.1:g.3360_3368del, NG_051211.1:g.3361_3368del, NG_051211.1:g.3362_3368del, NG_051211.1:g.3363_3368del, NG_051211.1:g.3364_3368del, NG_051211.1:g.3365_3368del, NG_051211.1:g.3366_3368del, NG_051211.1:g.3367_3368del, NG_051211.1:g.3368del, NG_051211.1:g.3368dup, NG_051211.1:g.3367_3368dup, NG_051211.1:g.3366_3368dup, NG_051211.1:g.3365_3368dup, NG_051211.1:g.3364_3368dup, NG_051211.1:g.3363_3368dup, NG_051211.1:g.3362_3368dup, NG_051211.1:g.3361_3368dup, NG_051211.1:g.3360_3368dup, NG_051211.1:g.3355_3368dup

Select item 14908895498.

rs1490889549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:1913139 (GRCh38)
19:1913138 (GRCh37)
Canonical SPDI:: NC_000019.10:1913138:C:G,NC_000019.10:1913138:C:T
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1913139C>G, NC_000019.10:g.1913139C>T, NC_000019.9:g.1913138C>G, NC_000019.9:g.1913138C>T, NG_051211.1:g.12926C>G, NG_051211.1:g.12926C>T, NM_138422.4:c.1092C>G, NM_138422.4:c.1092C>T, NM_138422.3:c.1092C>G, NM_138422.3:c.1092C>T, NM_138422.2:c.1092C>G, NM_138422.2:c.1092C>T, NM_001329533.2:c.1044C>G, NM_001329533.2:c.1044C>T, NM_001329533.1:c.1044C>G, NM_001329533.1:c.1044C>T, NP_612431.2:p.Asp364Glu, NP_001316462.1:p.Asp348Glu

Select item 14907867069.

rs1490786706 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: 19:1910883 (GRCh38)
19:1910882 (GRCh37)
Canonical SPDI:: NC_000019.10:1910877:TTGTTGTT:TTGTT
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTGTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.1910880GTT[1], NC_000019.9:g.1910879GTT[1], NG_051211.1:g.10667GTT[1]

Select item 149052883910.

rs1490528839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:1900772 (GRCh38)
19:1900771 (GRCh37)
Canonical SPDI:: NC_000019.10:1900771:T:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.1900772T>G, NC_000019.9:g.1900771T>G, NG_051211.1:g.559T>G

Select item 149029543511.

rs1490295435 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 19:1910573 (GRCh38)
19:1910573 (GRCh37)
Canonical SPDI:: NC_000019.10:1910573:T:TT,NC_000019.10:1910573:T:TTT
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.1910574dup, NC_000019.10:g.1910574_1910575insTT, NC_000019.9:g.1910573dup, NC_000019.9:g.1910573_1910574insTT, NG_051211.1:g.10361dup, NG_051211.1:g.10361_10362insTT

Select item 149007761512.

rs1490077615 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:1906869 (GRCh38)
19:1906868 (GRCh37)
Canonical SPDI:: NC_000019.10:1906868:T:
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.1906869del, NC_000019.9:g.1906868del, NG_051211.1:g.6656del

Select item 148991578513.

rs1489915785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:1906184 (GRCh38)
19:1906183 (GRCh37)
Canonical SPDI:: NC_000019.10:1906183:A:G
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1906184A>G, NC_000019.9:g.1906183A>G, NG_051211.1:g.5971A>G

Select item 148989066514.

rs1489890665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1905435 (GRCh38)
19:1905434 (GRCh37)
Canonical SPDI:: NC_000019.10:1905434:C:T
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000038/10 (TOPMED)
T=0.000095/13 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1905435C>T, NC_000019.9:g.1905434C>T, NG_051211.1:g.5222C>T, NM_138422.4:c.-163C>T, NM_138422.3:c.-163C>T, NM_138422.2:c.-163C>T, NM_001329533.2:c.-20C>T, NM_001329533.1:c.-20C>T, NM_079834.4:c.-46C>T, NM_079834.3:c.-46C>T, NM_079834.2:c.-46C>T, NM_001329539.2:c.-130C>T, NM_001329539.1:c.-130C>T, NM_001329540.2:c.-46C>T, NM_001329540.1:c.-46C>T

Select item 148987168915.

rs1489871689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1915416 (GRCh38)
19:1915415 (GRCh37)
Canonical SPDI:: NC_000019.10:1915415:C:T
Gene:: SCAMP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.1915416C>T, NC_000019.9:g.1915415C>T, NG_051211.1:g.15203C>T

Select item 148986249316.

rs1489862493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:1907531 (GRCh38)
19:1907530 (GRCh37)
Canonical SPDI:: NC_000019.10:1907530:G:T
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.1907531G>T, NC_000019.9:g.1907530G>T, NG_051211.1:g.7318G>T

Select item 148980637117.

rs1489806371 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:1910205 (GRCh38)
19:1910204 (GRCh37)
Canonical SPDI:: NC_000019.10:1910204:A:G
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.1910205A>G, NC_000019.9:g.1910204A>G, NG_051211.1:g.9992A>G

Select item 148977122418.

rs1489771224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:1905430 (GRCh38)
19:1905429 (GRCh37)
Canonical SPDI:: NC_000019.10:1905429:G:T
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1905430G>T, NC_000019.9:g.1905429G>T, NG_051211.1:g.5217G>T, NM_138422.4:c.-168G>T, NM_138422.3:c.-168G>T, NM_138422.2:c.-168G>T, NM_001329533.2:c.-25G>T, NM_001329533.1:c.-25G>T, NM_079834.4:c.-51G>T, NM_079834.3:c.-51G>T, NM_079834.2:c.-51G>T, NM_001329539.2:c.-135G>T, NM_001329539.1:c.-135G>T, NM_001329540.2:c.-51G>T, NM_001329540.1:c.-51G>T

Select item 148973825019.

rs1489738250 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:1904961 (GRCh38)
19:1904960 (GRCh37)
Canonical SPDI:: NC_000019.10:1904960:T:C
Gene:: SCAMP4 (Varview), ADAT3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.1904961T>C, NC_000019.9:g.1904960T>C, NG_051211.1:g.4748T>C

Select item 148960829920.

rs1489608299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1914632 (GRCh38)
19:1914631 (GRCh37)
Canonical SPDI:: NC_000019.10:1914631:C:T
Gene:: SCAMP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000343/1 (KOREAN)
HGVS:: NC_000019.10:g.1914632C>T, NC_000019.9:g.1914631C>T, NG_051211.1:g.14419C>T

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