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Select item 14915772151.

rs1491577215 has merged into rs67686411 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:23767771 (GRCh38)
19:23950573 (GRCh37)
Canonical SPDI:: NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23767761:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RPSAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TT=0.0591/296 (1000Genomes)
HGVS:: NC_000019.10:g.23767771_23767784del, NC_000019.10:g.23767774_23767784del, NC_000019.10:g.23767777_23767784del, NC_000019.10:g.23767778_23767784del, NC_000019.10:g.23767779_23767784del, NC_000019.10:g.23767780_23767784del, NC_000019.10:g.23767781_23767784del, NC_000019.10:g.23767782_23767784del, NC_000019.10:g.23767783_23767784del, NC_000019.10:g.23767784del, NC_000019.10:g.23767784dup, NC_000019.10:g.23767783_23767784dup, NC_000019.10:g.23767782_23767784dup, NC_000019.10:g.23767781_23767784dup, NC_000019.10:g.23767776_23767784dup, NC_000019.10:g.23767775_23767784dup, NC_000019.9:g.23950573_23950586del, NC_000019.9:g.23950576_23950586del, NC_000019.9:g.23950579_23950586del, NC_000019.9:g.23950580_23950586del, NC_000019.9:g.23950581_23950586del, NC_000019.9:g.23950582_23950586del, NC_000019.9:g.23950583_23950586del, NC_000019.9:g.23950584_23950586del, NC_000019.9:g.23950585_23950586del, NC_000019.9:g.23950586del, NC_000019.9:g.23950586dup, NC_000019.9:g.23950585_23950586dup, NC_000019.9:g.23950584_23950586dup, NC_000019.9:g.23950583_23950586dup, NC_000019.9:g.23950578_23950586dup, NC_000019.9:g.23950577_23950586dup

Select item 14915120752.

rs1491512075 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 19:23800028 (GRCh38)
19:23982831 (GRCh37)
Canonical SPDI:: NC_000019.10:23800028:TT:TTATT
Gene:: RPSAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTATT=0./0 (ALFA)
HGVS:: NC_000019.10:g.23800030_23800031insATT, NC_000019.9:g.23982832_23982833insATT

Select item 14915104313.

rs1491510431 has merged into rs71167709 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 19:23805137 (GRCh38)
19:23987939 (GRCh37)
Canonical SPDI:: NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:23805121:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: RPSAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACAC=0./0 (ALFA)
CACACACACACACACACA=0.025/1 (GENOME_DK)
HGVS:: NC_000019.10:g.23805123AC[7], NC_000019.10:g.23805123AC[8], NC_000019.10:g.23805123AC[9], NC_000019.10:g.23805123AC[10], NC_000019.10:g.23805123AC[11], NC_000019.10:g.23805123AC[12], NC_000019.10:g.23805123AC[13], NC_000019.10:g.23805123AC[14], NC_000019.10:g.23805123AC[15], NC_000019.10:g.23805123AC[16], NC_000019.10:g.23805123AC[17], NC_000019.10:g.23805123AC[18], NC_000019.10:g.23805123AC[19], NC_000019.10:g.23805123AC[20], NC_000019.10:g.23805123AC[22], NC_000019.10:g.23805123AC[23], NC_000019.10:g.23805123AC[24], NC_000019.10:g.23805123AC[25], NC_000019.10:g.23805123AC[26], NC_000019.9:g.23987925AC[7], NC_000019.9:g.23987925AC[8], NC_000019.9:g.23987925AC[9], NC_000019.9:g.23987925AC[10], NC_000019.9:g.23987925AC[11], NC_000019.9:g.23987925AC[12], NC_000019.9:g.23987925AC[13], NC_000019.9:g.23987925AC[14], NC_000019.9:g.23987925AC[15], NC_000019.9:g.23987925AC[16], NC_000019.9:g.23987925AC[17], NC_000019.9:g.23987925AC[18], NC_000019.9:g.23987925AC[19], NC_000019.9:g.23987925AC[20], NC_000019.9:g.23987925AC[22], NC_000019.9:g.23987925AC[23], NC_000019.9:g.23987925AC[24], NC_000019.9:g.23987925AC[25], NC_000019.9:g.23987925AC[26]

Select item 14915023054.

rs1491502305 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:23820619 (GRCh38)
19:24003421 (GRCh37)
Canonical SPDI:: NC_000019.10:23820618:TG:
Gene:: RPSAP58 (Varview), LOC124904677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.23820619_23820620del, NC_000019.9:g.24003421_24003422del

Select item 14914513715.

rs1491451371 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:23820619 (GRCh38)
19:24003422 (GRCh37)
Canonical SPDI:: NC_000019.10:23820619:GGGG:GGGGG
Gene:: RPSAP58 (Varview), LOC124904677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0.000071/1 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000064/9 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.23820623dup, NC_000019.9:g.24003425dup

Select item 14914219836.

rs1491421983 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:23815990 (GRCh38)
19:23998792 (GRCh37)
Canonical SPDI:: NC_000019.10:23815989:TA:
Gene:: RPSAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TA=0.2483/957 (ALSPAC)
TA=0.2508/930 (TWINSUK)
HGVS:: NC_000019.10:g.23815990_23815991del, NC_000019.9:g.23998792_23998793del

Select item 14913749567.

rs1491374956 has merged into rs869144019 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:23791786 (GRCh38)
19:23974588 (GRCh37)
Canonical SPDI:: NC_000019.10:23791785:CT:
Gene:: RPSAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00014/0 (TOMMO)
HGVS:: NC_000019.10:g.23791786_23791787del, NC_000019.9:g.23974588_23974589del

Select item 14913645348.

rs1491364534 has merged into rs61484574 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:23800038 (GRCh38)
19:23982840 (GRCh37)
Canonical SPDI:: NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23800027:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RPSAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.23800038_23800046del, NC_000019.10:g.23800039_23800046del, NC_000019.10:g.23800040_23800046del, NC_000019.10:g.23800042_23800046del, NC_000019.10:g.23800044_23800046del, NC_000019.10:g.23800045_23800046del, NC_000019.10:g.23800046del, NC_000019.10:g.23800046dup, NC_000019.10:g.23800045_23800046dup, NC_000019.10:g.23800044_23800046dup, NC_000019.10:g.23800043_23800046dup, NC_000019.10:g.23800042_23800046dup, NC_000019.10:g.23800041_23800046dup, NC_000019.10:g.23800040_23800046dup, NC_000019.10:g.23800039_23800046dup, NC_000019.10:g.23800038_23800046dup, NC_000019.10:g.23800037_23800046dup, NC_000019.10:g.23800035_23800046dup, NC_000019.10:g.23800046_23800047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.23982840_23982848del, NC_000019.9:g.23982841_23982848del, NC_000019.9:g.23982842_23982848del, NC_000019.9:g.23982844_23982848del, NC_000019.9:g.23982846_23982848del, NC_000019.9:g.23982847_23982848del, NC_000019.9:g.23982848del, NC_000019.9:g.23982848dup, NC_000019.9:g.23982847_23982848dup, NC_000019.9:g.23982846_23982848dup, NC_000019.9:g.23982845_23982848dup, NC_000019.9:g.23982844_23982848dup, NC_000019.9:g.23982843_23982848dup, NC_000019.9:g.23982842_23982848dup, NC_000019.9:g.23982841_23982848dup, NC_000019.9:g.23982840_23982848dup, NC_000019.9:g.23982839_23982848dup, NC_000019.9:g.23982837_23982848dup, NC_000019.9:g.23982848_23982849insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913579009.

rs1491357900 has merged into rs1555720636 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:23824592 (GRCh38)
19:24007394 (GRCh37)
Canonical SPDI:: NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23824580:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RPSAP58 (Varview), LOC124904677 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.23824592_23824599del, NC_000019.10:g.23824594_23824599del, NC_000019.10:g.23824596_23824599del, NC_000019.10:g.23824597_23824599del, NC_000019.10:g.23824598_23824599del, NC_000019.10:g.23824599del, NC_000019.10:g.23824599dup, NC_000019.10:g.23824598_23824599dup, NC_000019.10:g.23824597_23824599dup, NC_000019.10:g.23824596_23824599dup, NC_000019.10:g.23824594_23824599dup, NC_000019.10:g.23824593_23824599dup, NC_000019.10:g.23824592_23824599dup, NC_000019.10:g.23824591_23824599dup, NC_000019.10:g.23824590_23824599dup, NC_000019.10:g.23824589_23824599dup, NC_000019.10:g.23824588_23824599dup, NC_000019.10:g.23824587_23824599dup, NC_000019.10:g.23824586_23824599dup, NC_000019.10:g.23824585_23824599dup, NC_000019.10:g.23824584_23824599dup, NC_000019.10:g.23824582_23824599dup, NC_000019.10:g.23824581_23824599dup, NC_000019.10:g.23824599_23824600insTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.23824599_23824600insTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.23824599_23824600insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.23824581_23824599T[42]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.23824581_23824599T[44]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.23824599_23824600insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.23824599_23824600insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.23824599_23824600insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.23824599_23824600insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.24007394_24007401del, NC_000019.9:g.24007396_24007401del, NC_000019.9:g.24007398_24007401del, NC_000019.9:g.24007399_24007401del, NC_000019.9:g.24007400_24007401del, NC_000019.9:g.24007401del, NC_000019.9:g.24007401dup, NC_000019.9:g.24007400_24007401dup, NC_000019.9:g.24007399_24007401dup, NC_000019.9:g.24007398_24007401dup, NC_000019.9:g.24007396_24007401dup, NC_000019.9:g.24007395_24007401dup, NC_000019.9:g.24007394_24007401dup, NC_000019.9:g.24007393_24007401dup, NC_000019.9:g.24007392_24007401dup, NC_000019.9:g.24007391_24007401dup, NC_000019.9:g.24007390_24007401dup, NC_000019.9:g.24007389_24007401dup, NC_000019.9:g.24007388_24007401dup, NC_000019.9:g.24007387_24007401dup, NC_000019.9:g.24007386_24007401dup, NC_000019.9:g.24007384_24007401dup, NC_000019.9:g.24007383_24007401dup, NC_000019.9:g.24007401_24007402insTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.24007401_24007402insTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.24007401_24007402insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.24007383_24007401T[42]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.24007383_24007401T[44]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.24007401_24007402insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.24007401_24007402insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.24007401_24007402insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.24007401_24007402insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149135292310.

rs1491352923 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:23766142 (GRCh38)
19:23948945 (GRCh37)
Canonical SPDI:: NC_000019.10:23766142:CTTTTTTTTTTTTTTTTTT:CTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT
Gene:: RPSAP58 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.23766143_23766161dup, NC_000019.9:g.23948945_23948963dup

Select item 149134134111.

rs1491341341 has merged into rs149463300 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAA [Show Flanks]
Chromosome:: 19:23828968 (GRCh38)
19:24011771 (GRCh37)
Canonical SPDI:: NC_000019.10:23828968:A:ACAAA
Gene:: RPSAP58 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAAA=0.00008/1 (ALFA)
ACAA=0.12028/446 (TWINSUK)
ACAA=0.12039/464 (ALSPAC)
HGVS:: NC_000019.10:g.23828969_23828970insCAAA, NC_000019.9:g.24011771_24011772insCAAA

Select item 149133108712.

rs1491331087 has merged into rs1555721218 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:23828970 (GRCh38)
19:24011772 (GRCh37)
Canonical SPDI:: NC_000019.10:23828968:AAA:A
Gene:: RPSAP58 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.07628/294 (ALSPAC)
-=0.09763/362 (TWINSUK)
HGVS:: NC_000019.10:g.23828970_23828971del, NC_000019.9:g.24011772_24011773del

Select item 149133006613.

rs1491330066 has merged into rs947437127 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,TTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:23766152 (GRCh38)
19:23948954 (GRCh37)
Canonical SPDI:: NC_000019.10:23766143:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:23766143:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:23766143:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23766143:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23766143:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23766143:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23766143:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23766143:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23766143:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:23766143:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RPSAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.23766152_23766170del, NC_000019.10:g.23766164_23766170del, NC_000019.10:g.23766167_23766170del, NC_000019.10:g.23766170del, NC_000019.10:g.23766170dup, NC_000019.10:g.23766169_23766170dup, NC_000019.10:g.23766168_23766170dup, NC_000019.10:g.23766167_23766170dup, NC_000019.10:g.23766165_23766170dup, NC_000019.10:g.23766157_23766170dup, NC_000019.9:g.23948954_23948972del, NC_000019.9:g.23948966_23948972del, NC_000019.9:g.23948969_23948972del, NC_000019.9:g.23948972del, NC_000019.9:g.23948972dup, NC_000019.9:g.23948971_23948972dup, NC_000019.9:g.23948970_23948972dup, NC_000019.9:g.23948969_23948972dup, NC_000019.9:g.23948967_23948972dup, NC_000019.9:g.23948959_23948972dup

Select item 149131852114.

rs1491318521 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAG,AG [Show Flanks]
Chromosome:: 19:23814230 (GRCh38)
19:23997033 (GRCh37)
Canonical SPDI:: NC_000019.10:23814230::AAG,NC_000019.10:23814230::AG
Gene:: RPSAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
AG=0.000347/48 (GnomAD)
AG=0.018968/318 (TOMMO)
HGVS:: NC_000019.10:g.23814230_23814231insAAG, NC_000019.10:g.23814230_23814231insAG, NC_000019.9:g.23997032_23997033insAAG, NC_000019.9:g.23997032_23997033insAG

Select item 149127081715.

rs1491270817 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:23796866 (GRCh38)
19:23979668 (GRCh37)
Canonical SPDI:: NC_000019.10:23796864:TAT:T
Gene:: RPSAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.23796866_23796867del, NC_000019.9:g.23979668_23979669del

Select item 149123100616.

rs1491231006 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:23806784 (GRCh38)
19:23989586 (GRCh37)
Canonical SPDI:: NC_000019.10:23806783:CA:
Gene:: RPSAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.23806784_23806785del, NC_000019.9:g.23989586_23989587del

Select item 149122844517.

rs1491228445 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:23815184 (GRCh38)
19:23997987 (GRCh37)
Canonical SPDI:: NC_000019.10:23815184:G:GG
Gene:: RPSAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.23815185dup, NC_000019.9:g.23997987dup

Select item 149117979918.

rs1491179799 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT [Show Flanks]
Chromosome:: 19:23805122 (GRCh38)
19:23987925 (GRCh37)
Canonical SPDI:: NC_000019.10:23805122::TT
Gene:: RPSAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.23805122_23805123insTT, NC_000019.9:g.23987924_23987925insTT

Select item 149115927019.

rs1491159270 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:23814231 (GRCh38)
19:23997033 (GRCh37)
Canonical SPDI:: NC_000019.10:23814229:AGA:A
Gene:: RPSAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000177/3 (TOMMO)
HGVS:: NC_000019.10:g.23814231_23814232del, NC_000019.9:g.23997033_23997034del

Select item 149113223220.

rs1491132232 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:23799648 (GRCh38)
19:23982450 (GRCh37)
Canonical SPDI:: NC_000019.10:23799646:TGT:T
Gene:: RPSAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00184/8 (ALFA)
-=0.00062/4 (1000Genomes)
-=0.0009/15 (TOMMO)
HGVS:: NC_000019.10:g.23799648_23799649del, NC_000019.9:g.23982450_23982451del

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