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Select item 14914139381.

rs1491413938 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT,GTT [Show Flanks]
Chromosome:: 4:151104440 (GRCh38)
4:152025593 (GRCh37)
Canonical SPDI:: NC_000004.12:151104440:TT:TTATT,NC_000004.12:151104440:TT:TTGTT
Gene:: RPS3A (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGTT=0./0 (ALFA)
TTG=0.0005/8 (TOMMO)
HGVS:: NC_000004.12:g.151104442_151104443insATT, NC_000004.12:g.151104442_151104443insGTT, NC_000004.11:g.152025594_152025595insATT, NC_000004.11:g.152025594_152025595insGTT, NW_025791772.1:g.41173_41174insATT, NW_025791772.1:g.41173_41174insGTT

Select item 14911589872.

rs1491158987 has merged into rs386401872 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:151104451 (GRCh38)
4:152025603 (GRCh37)
Canonical SPDI:: NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:151104439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RPS3A (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.151104451_151104462del, NC_000004.12:g.151104452_151104462del, NC_000004.12:g.151104453_151104462del, NC_000004.12:g.151104454_151104462del, NC_000004.12:g.151104456_151104462del, NC_000004.12:g.151104457_151104462del, NC_000004.12:g.151104459_151104462del, NC_000004.12:g.151104460_151104462del, NC_000004.12:g.151104461_151104462del, NC_000004.12:g.151104462del, NC_000004.12:g.151104462dup, NC_000004.12:g.151104461_151104462dup, NC_000004.12:g.151104460_151104462dup, NC_000004.12:g.151104459_151104462dup, NC_000004.12:g.151104440_151104462T[27]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.12:g.151104458_151104462dup, NC_000004.12:g.151104457_151104462dup, NC_000004.12:g.151104456_151104462dup, NC_000004.12:g.151104455_151104462dup, NC_000004.12:g.151104454_151104462dup, NC_000004.12:g.151104453_151104462dup, NC_000004.12:g.151104452_151104462dup, NC_000004.12:g.151104440_151104462T[34]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.12:g.151104451_151104462dup, NC_000004.12:g.151104450_151104462dup, NC_000004.12:g.151104449_151104462dup, NC_000004.12:g.151104448_151104462dup, NC_000004.12:g.151104447_151104462dup, NC_000004.12:g.151104446_151104462dup, NC_000004.12:g.151104445_151104462dup, NC_000004.12:g.151104444_151104462dup, NC_000004.12:g.151104443_151104462dup, NC_000004.12:g.151104442_151104462dup, NC_000004.12:g.151104441_151104462dup, NC_000004.12:g.151104440_151104462dup, NC_000004.12:g.151104462_151104463insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.151104462_151104463insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.151104462_151104463insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.151104462_151104463insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.151104462_151104463insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.151104462_151104463insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.151104462_151104463insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.151104462_151104463insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.151104462_151104463insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.151104462_151104463insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.151104462_151104463insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.152025603_152025614del, NC_000004.11:g.152025604_152025614del, NC_000004.11:g.152025605_152025614del, NC_000004.11:g.152025606_152025614del, NC_000004.11:g.152025608_152025614del, NC_000004.11:g.152025609_152025614del, NC_000004.11:g.152025611_152025614del, NC_000004.11:g.152025612_152025614del, NC_000004.11:g.152025613_152025614del, NC_000004.11:g.152025614del, NC_000004.11:g.152025614dup, NC_000004.11:g.152025613_152025614dup, NC_000004.11:g.152025612_152025614dup, NC_000004.11:g.152025611_152025614dup, NC_000004.11:g.152025592_152025614T[27]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.152025610_152025614dup, NC_000004.11:g.152025609_152025614dup, NC_000004.11:g.152025608_152025614dup, NC_000004.11:g.152025607_152025614dup, NC_000004.11:g.152025606_152025614dup, NC_000004.11:g.152025605_152025614dup, NC_000004.11:g.152025604_152025614dup, NC_000004.11:g.152025592_152025614T[34]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.152025603_152025614dup, NC_000004.11:g.152025602_152025614dup, NC_000004.11:g.152025601_152025614dup, NC_000004.11:g.152025600_152025614dup, NC_000004.11:g.152025599_152025614dup, NC_000004.11:g.152025598_152025614dup, NC_000004.11:g.152025597_152025614dup, NC_000004.11:g.152025596_152025614dup, NC_000004.11:g.152025595_152025614dup, NC_000004.11:g.152025594_152025614dup, NC_000004.11:g.152025593_152025614dup, NC_000004.11:g.152025592_152025614dup, NC_000004.11:g.152025614_152025615insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.152025614_152025615insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.152025614_152025615insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.152025614_152025615insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.152025614_152025615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.152025614_152025615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.152025614_152025615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.152025614_152025615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.152025614_152025615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.152025614_152025615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.152025614_152025615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791772.1:g.41182_41193del, NW_025791772.1:g.41183_41193del, NW_025791772.1:g.41184_41193del, NW_025791772.1:g.41185_41193del, NW_025791772.1:g.41187_41193del, NW_025791772.1:g.41188_41193del, NW_025791772.1:g.41190_41193del, NW_025791772.1:g.41191_41193del, NW_025791772.1:g.41192_41193del, NW_025791772.1:g.41193del, NW_025791772.1:g.41193dup, NW_025791772.1:g.41192_41193dup, NW_025791772.1:g.41191_41193dup, NW_025791772.1:g.41190_41193dup, NW_025791772.1:g.41171_41193T[27]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NW_025791772.1:g.41189_41193dup, NW_025791772.1:g.41188_41193dup, NW_025791772.1:g.41187_41193dup, NW_025791772.1:g.41186_41193dup, NW_025791772.1:g.41185_41193dup, NW_025791772.1:g.41184_41193dup, NW_025791772.1:g.41183_41193dup, NW_025791772.1:g.41171_41193T[34]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NW_025791772.1:g.41182_41193dup, NW_025791772.1:g.41181_41193dup, NW_025791772.1:g.41180_41193dup, NW_025791772.1:g.41179_41193dup, NW_025791772.1:g.41178_41193dup, NW_025791772.1:g.41177_41193dup, NW_025791772.1:g.41176_41193dup, NW_025791772.1:g.41175_41193dup, NW_025791772.1:g.41174_41193dup, NW_025791772.1:g.41173_41193dup, NW_025791772.1:g.41172_41193dup, NW_025791772.1:g.41171_41193dup, NW_025791772.1:g.41193_41194insTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791772.1:g.41193_41194insTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791772.1:g.41193_41194insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791772.1:g.41193_41194insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791772.1:g.41193_41194insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791772.1:g.41193_41194insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791772.1:g.41193_41194insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791772.1:g.41193_41194insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791772.1:g.41193_41194insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791772.1:g.41193_41194insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791772.1:g.41193_41194insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910812163.

rs1491081216 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 4:151104438 (GRCh38)
4:152025590 (GRCh37)
Canonical SPDI:: NC_000004.12:151104437:GG:
Gene:: RPS3A (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.151104438_151104439del, NC_000004.11:g.152025590_152025591del, NW_025791772.1:g.41169_41170del

Select item 14910311604.

rs1491031160 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:151104462 (GRCh38)
4:152025614 (GRCh37)
Canonical SPDI:: NC_000004.12:151104461:TG:
Gene:: RPS3A (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000004.12:g.151104462_151104463del, NC_000004.11:g.152025614_152025615del, NW_025791772.1:g.41193_41194del

Select item 14904914885.

rs1490491488 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:151098982 (GRCh38)
4:152020134 (GRCh37)
Canonical SPDI:: NC_000004.12:151098981:T:G
Gene:: RPS3A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000004.12:g.151098982T>G, NC_000004.11:g.152020134T>G, NG_083511.1:g.198T>G, NW_025791772.1:g.35713T>G

Select item 14899942886.

rs1489994288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:151098551 (GRCh38)
4:152019703 (GRCh37)
Canonical SPDI:: NC_000004.12:151098550:C:T
Gene:: RPS3A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000004.12:g.151098551C>T, NC_000004.11:g.152019703C>T, NW_025791772.1:g.35282C>T

Select item 14899490227.

rs1489949022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:151099530 (GRCh38)
4:152020682 (GRCh37)
Canonical SPDI:: NC_000004.12:151099529:C:T
Gene:: RPS3A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.151099530C>T, NC_000004.11:g.152020682C>T, NG_083511.1:g.746C>T, NW_025791772.1:g.36261C>T

Select item 14896723598.

rs1489672359 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:151103925 (GRCh38)
4:152025077 (GRCh37)
Canonical SPDI:: NC_000004.12:151103924:A:G
Gene:: RPS3A (Varview), SNORD73A (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
HGVS:: NC_000004.12:g.151103925A>G, NC_000004.11:g.152025077A>G, NW_025791772.1:g.40656A>G, NM_001267699.2:c.*1044A>G, NM_001267699.1:c.*1044A>G, NR_047688.1:n.1301A>G

Select item 14888408649.

rs1488840864 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:151102177 (GRCh38)
4:152023330 (GRCh37)
Canonical SPDI:: NC_000004.12:151102177:A:AA
Gene:: RPS3A (Varview), SNORD73A (Varview), SNORD73B (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.151102178dup, NC_000004.11:g.152023330dup, NW_025791772.1:g.38909dup

Select item 148878879510.

rs1488788795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:151099976 (GRCh38)
4:152021128 (GRCh37)
Canonical SPDI:: NC_000004.12:151099975:G:A,NC_000004.12:151099975:G:C,NC_000004.12:151099975:G:T
Gene:: RPS3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.0016/3 (Korea1K)
HGVS:: NC_000004.12:g.151099976G>A, NC_000004.12:g.151099976G>C, NC_000004.12:g.151099976G>T, NC_000004.11:g.152021128G>A, NC_000004.11:g.152021128G>C, NC_000004.11:g.152021128G>T, NG_083511.1:g.1192G>A, NG_083511.1:g.1192G>C, NG_083511.1:g.1192G>T, NW_025791772.1:g.36707G>A, NW_025791772.1:g.36707G>C, NW_025791772.1:g.36707G>T

Select item 148845167711.

rs1488451677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:151102008 (GRCh38)
4:152023160 (GRCh37)
Canonical SPDI:: NC_000004.12:151102007:C:T
Gene:: RPS3A (Varview), SNORD73A (Varview), SNORD73B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000004.12:g.151102008C>T, NC_000004.11:g.152023160C>T, NW_025791772.1:g.38739C>T

Select item 148813091312.

rs1488130913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:151101248 (GRCh38)
4:152022400 (GRCh37)
Canonical SPDI:: NC_000004.12:151101247:A:G
Gene:: RPS3A (Varview), SNORD73B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.151101248A>G, NC_000004.11:g.152022400A>G, NW_025791772.1:g.37979A>G

Select item 148779310113.

rs1487793101 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:151104178 (GRCh38)
4:152025330 (GRCh37)
Canonical SPDI:: NC_000004.12:151104177:A:G
Gene:: RPS3A (Varview), SNORD73A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.151104178A>G, NC_000004.11:g.152025330A>G, NW_025791772.1:g.40909A>G, NM_001006.5:c.565A>G, NM_001006.4:c.565A>G, NM_182777.2:c.565A>G, NM_001267699.2:c.*1297A>G, NM_001267699.1:c.*1297A>G, NR_047688.1:n.1554A>G, NM_182777.1:c.565A>G, NP_000997.1:p.Ile189Val

Select item 148751636114.

rs1487516361 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:151101115 (GRCh38)
4:152022267 (GRCh37)
Canonical SPDI:: NC_000004.12:151101114:A:G
Gene:: RPS3A (Varview), SNORD73B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000072/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.151101115A>G, NC_000004.11:g.152022267A>G, NW_025791772.1:g.37846A>G, NM_001006.5:c.307A>G, NM_001006.4:c.307A>G, NM_182777.2:c.307A>G, NM_182777.1:c.307A>G, NP_000997.1:p.Met103Val

Select item 148727998315.

rs1487279983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:151102377 (GRCh38)
4:152023529 (GRCh37)
Canonical SPDI:: NC_000004.12:151102376:G:A
Gene:: RPS3A (Varview), SNORD73A (Varview), SNORD73B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_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_000004.12:g.151102377G>A, NC_000004.11:g.152023529G>A, NW_025791772.1:g.39108G>A

Select item 148629595916.

rs1486295959 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:151101471 (GRCh38)
4:152022623 (GRCh37)
Canonical SPDI:: NC_000004.12:151101470:T:A
Gene:: RPS3A (Varview), SNORD73B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000004.12:g.151101471T>A, NC_000004.11:g.152022623T>A, NW_025791772.1:g.38202T>A

Select item 148620713017.

rs1486207130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:151099442 (GRCh38)
4:152020594 (GRCh37)
Canonical SPDI:: NC_000004.12:151099441:C:A
Gene:: RPS3A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000004.12:g.151099442C>A, NC_000004.11:g.152020594C>A, NG_083511.1:g.658C>A, NW_025791772.1:g.36173C>A

Select item 148616398718.

rs1486163987 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:151099427 (GRCh38)
4:152020579 (GRCh37)
Canonical SPDI:: NC_000004.12:151099426:T:C
Gene:: RPS3A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.151099427T>C, NC_000004.11:g.152020579T>C, NG_083511.1:g.643T>C, NW_025791772.1:g.36158T>C

Select item 148599257119.

rs1485992571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:151100997 (GRCh38)
4:152022149 (GRCh37)
Canonical SPDI:: NC_000004.12:151100996:G:A
Gene:: RPS3A (Varview), SNORD73B (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.151100997G>A, NC_000004.11:g.152022149G>A, NW_025791772.1:g.37728G>A, NM_001006.5:c.189G>A, NM_001006.4:c.189G>A, NM_182777.2:c.189G>A, NM_182777.1:c.189G>A

Select item 148519188320.

rs1485191883 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:151098223 (GRCh38)
4:152019375 (GRCh37)
Canonical SPDI:: NC_000004.12:151098222:T:C,NC_000004.12:151098222:T:G
Gene:: RPS3A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000004.12:g.151098223T>C, NC_000004.12:g.151098223T>G, NC_000004.11:g.152019375T>C, NC_000004.11:g.152019375T>G, NW_025791772.1:g.34954T>C, NW_025791772.1:g.34954T>G

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