SNP Links for Gene (Select 80243) - SNP

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Select item 14915770371.

rs1491577037 has merged into rs58993264 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:68228949 (GRCh38)
8:69141184 (GRCh37)
Canonical SPDI:: NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68228944:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PREX2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.68228949_68228967del, NC_000008.11:g.68228955_68228967del, NC_000008.11:g.68228957_68228967del, NC_000008.11:g.68228958_68228967del, NC_000008.11:g.68228959_68228967del, NC_000008.11:g.68228960_68228967del, NC_000008.11:g.68228961_68228967del, NC_000008.11:g.68228962_68228967del, NC_000008.11:g.68228963_68228967del, NC_000008.11:g.68228964_68228967del, NC_000008.11:g.68228965_68228967del, NC_000008.11:g.68228966_68228967del, NC_000008.11:g.68228967del, NC_000008.11:g.68228967dup, NC_000008.11:g.68228966_68228967dup, NC_000008.11:g.68228965_68228967dup, NC_000008.11:g.68228964_68228967dup, NC_000008.11:g.68228963_68228967dup, NC_000008.11:g.68228962_68228967dup, NC_000008.11:g.68228959_68228967dup, NC_000008.11:g.68228957_68228967dup, NC_000008.11:g.68228955_68228967dup, NC_000008.10:g.69141184_69141202del, NC_000008.10:g.69141190_69141202del, NC_000008.10:g.69141192_69141202del, NC_000008.10:g.69141193_69141202del, NC_000008.10:g.69141194_69141202del, NC_000008.10:g.69141195_69141202del, NC_000008.10:g.69141196_69141202del, NC_000008.10:g.69141197_69141202del, NC_000008.10:g.69141198_69141202del, NC_000008.10:g.69141199_69141202del, NC_000008.10:g.69141200_69141202del, NC_000008.10:g.69141201_69141202del, NC_000008.10:g.69141202del, NC_000008.10:g.69141202dup, NC_000008.10:g.69141201_69141202dup, NC_000008.10:g.69141200_69141202dup, NC_000008.10:g.69141199_69141202dup, NC_000008.10:g.69141198_69141202dup, NC_000008.10:g.69141197_69141202dup, NC_000008.10:g.69141194_69141202dup, NC_000008.10:g.69141192_69141202dup, NC_000008.10:g.69141190_69141202dup, NG_047022.1:g.281967_281985del, NG_047022.1:g.281973_281985del, NG_047022.1:g.281975_281985del, NG_047022.1:g.281976_281985del, NG_047022.1:g.281977_281985del, NG_047022.1:g.281978_281985del, NG_047022.1:g.281979_281985del, NG_047022.1:g.281980_281985del, NG_047022.1:g.281981_281985del, NG_047022.1:g.281982_281985del, NG_047022.1:g.281983_281985del, NG_047022.1:g.281984_281985del, NG_047022.1:g.281985del, NG_047022.1:g.281985dup, NG_047022.1:g.281984_281985dup, NG_047022.1:g.281983_281985dup, NG_047022.1:g.281982_281985dup, NG_047022.1:g.281981_281985dup, NG_047022.1:g.281980_281985dup, NG_047022.1:g.281977_281985dup, NG_047022.1:g.281975_281985dup, NG_047022.1:g.281973_281985dup

Select item 14915171492.

rs1491517149 has merged into rs368505791 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTAT,TTATAT,TTATATAT [Show Flanks]
Chromosome:: 8:68164350 (GRCh38)
8:69076586 (GRCh37)
Canonical SPDI:: NC_000008.11:68164350:T:TTTAT,NC_000008.11:68164350:T:TTTATAT,NC_000008.11:68164350:T:TTTATATAT
Gene:: PREX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATAT=0./0 (ALFA)
TTTA=0.000035/0 (TOMMO)
TTTA=0.00064/67 (GnomAD)
TTTA=0.204722/789 (ALSPAC)
TTTA=0.22411/831 (TWINSUK)
HGVS:: NC_000008.11:g.68164351_68164352insTTAT, NC_000008.11:g.68164351_68164352insTTATAT, NC_000008.11:g.68164351_68164352insTTATATAT, NC_000008.10:g.69076586_69076587insTTAT, NC_000008.10:g.69076586_69076587insTTATAT, NC_000008.10:g.69076586_69076587insTTATATAT, NG_047022.1:g.217369_217370insTTAT, NG_047022.1:g.217369_217370insTTATAT, NG_047022.1:g.217369_217370insTTATATAT

Select item 14915084623.

rs1491508462 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATATATATGTATATATATATA [Show Flanks]
Chromosome:: 8:68105731 (GRCh38)
8:69017967 (GRCh37)
Canonical SPDI:: NC_000008.11:68105731:TATATATATATA:TATATATATATACATATATATGTATATATATATA
Gene:: PREX2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TATATATATATACATATATATGTATATATATATA=0./0 (ALFA)
TATATATATATACATATATATG=0.0002/7 (GnomAD)
HGVS:: NC_000008.11:g.68105732_68105743TA[6]CATATATATGTATATATATATA[1], NC_000008.10:g.69017967_69017978TA[6]CATATATATGTATATATATATA[1], NG_047022.1:g.158750_158761TA[6]CATATATATGTATATATATATA[1], NM_025170.6:c.*370_*381TA[6]CATATATATGTATATATATATA[1], NM_025170.5:c.*370_*381TA[6]CATATATATGTATATATATATA[1]

Select item 14914870454.

rs1491487045 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:68152290 (GRCh38)
8:69064526 (GRCh37)
Canonical SPDI:: NC_000008.11:68152290::G
Gene:: PREX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000249/4 (TOMMO)
HGVS:: NC_000008.11:g.68152290_68152291insG, NC_000008.10:g.69064525_69064526insG, NG_047022.1:g.205308_205309insG

Select item 14914640385.

rs1491464038 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:68228972 (GRCh38)
8:69141207 (GRCh37)
Canonical SPDI:: NC_000008.11:68228970:AGA:A
Gene:: PREX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0403/478 (ALFA)
-=0.00011/1 (TOMMO)
-=0.00016/11 (GnomAD)
HGVS:: NC_000008.11:g.68228972_68228973del, NC_000008.10:g.69141207_69141208del, NG_047022.1:g.281990_281991del

Select item 14914386676.

rs1491438667 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:68093390 (GRCh38)
8:69005625 (GRCh37)
Canonical SPDI:: NC_000008.11:68093389:CA:
Gene:: PREX2 (Varview), LOC105375888 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01644/195 (ALFA)
-=0.00077/43 (GnomAD)
-=0.0012/20 (TOMMO)
HGVS:: NC_000008.11:g.68093390_68093391del, NC_000008.10:g.69005625_69005626del, NG_047022.1:g.146408_146409del

Select item 14914286457.

rs1491428645 has merged into rs1183491822 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:67955159 (GRCh38)
8:68867394 (GRCh37)
Canonical SPDI:: NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:67955147:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PREX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.67955159_67955171del, NC_000008.11:g.67955160_67955171del, NC_000008.11:g.67955161_67955171del, NC_000008.11:g.67955163_67955171del, NC_000008.11:g.67955164_67955171del, NC_000008.11:g.67955165_67955171del, NC_000008.11:g.67955166_67955171del, NC_000008.11:g.67955167_67955171del, NC_000008.11:g.67955168_67955171del, NC_000008.11:g.67955169_67955171del, NC_000008.11:g.67955170_67955171del, NC_000008.11:g.67955171del, NC_000008.11:g.67955171dup, NC_000008.11:g.67955170_67955171dup, NC_000008.11:g.67955169_67955171dup, NC_000008.11:g.67955168_67955171dup, NC_000008.11:g.67955167_67955171dup, NC_000008.11:g.67955166_67955171dup, NC_000008.11:g.67955165_67955171dup, NC_000008.11:g.67955164_67955171dup, NC_000008.11:g.67955163_67955171dup, NC_000008.11:g.67955162_67955171dup, NC_000008.11:g.67955156_67955171dup, NC_000008.11:g.67955171_67955172insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.68867394_68867406del, NC_000008.10:g.68867395_68867406del, NC_000008.10:g.68867396_68867406del, NC_000008.10:g.68867398_68867406del, NC_000008.10:g.68867399_68867406del, NC_000008.10:g.68867400_68867406del, NC_000008.10:g.68867401_68867406del, NC_000008.10:g.68867402_68867406del, NC_000008.10:g.68867403_68867406del, NC_000008.10:g.68867404_68867406del, NC_000008.10:g.68867405_68867406del, NC_000008.10:g.68867406del, NC_000008.10:g.68867406dup, NC_000008.10:g.68867405_68867406dup, NC_000008.10:g.68867404_68867406dup, NC_000008.10:g.68867403_68867406dup, NC_000008.10:g.68867402_68867406dup, NC_000008.10:g.68867401_68867406dup, NC_000008.10:g.68867400_68867406dup, NC_000008.10:g.68867399_68867406dup, NC_000008.10:g.68867398_68867406dup, NC_000008.10:g.68867397_68867406dup, NC_000008.10:g.68867391_68867406dup, NC_000008.10:g.68867406_68867407insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047022.1:g.8177_8189del, NG_047022.1:g.8178_8189del, NG_047022.1:g.8179_8189del, NG_047022.1:g.8181_8189del, NG_047022.1:g.8182_8189del, NG_047022.1:g.8183_8189del, NG_047022.1:g.8184_8189del, NG_047022.1:g.8185_8189del, NG_047022.1:g.8186_8189del, NG_047022.1:g.8187_8189del, NG_047022.1:g.8188_8189del, NG_047022.1:g.8189del, NG_047022.1:g.8189dup, NG_047022.1:g.8188_8189dup, NG_047022.1:g.8187_8189dup, NG_047022.1:g.8186_8189dup, NG_047022.1:g.8185_8189dup, NG_047022.1:g.8184_8189dup, NG_047022.1:g.8183_8189dup, NG_047022.1:g.8182_8189dup, NG_047022.1:g.8181_8189dup, NG_047022.1:g.8180_8189dup, NG_047022.1:g.8174_8189dup, NG_047022.1:g.8189_8190insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913648628.

rs1491364862 has merged into rs1218657240 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 8:67965531 (GRCh38)
8:68877766 (GRCh37)
Canonical SPDI:: NC_000008.11:67965527:TGTGT:TGT,NC_000008.11:67965527:TGTGT:TGTGTGT
Gene:: PREX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0.00006/1 (ALFA)
-=0.00052/2 (ALSPAC)
-=0.0006/3 (1000Genomes)
-=0.00081/3 (TWINSUK)
TG=0.00167/1 (NorthernSweden)
TG=0.00205/34 (TOMMO)
TG=0.00382/7 (Korea1K)
HGVS:: NC_000008.11:g.67965529GT[1], NC_000008.11:g.67965529GT[3], NC_000008.10:g.68877764GT[1], NC_000008.10:g.68877764GT[3], NG_047022.1:g.18547GT[1], NG_047022.1:g.18547GT[3]

Select item 14913544159.

rs1491354415 has merged into rs71253049 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 8:67987930 (GRCh38)
8:68900165 (GRCh37)
Canonical SPDI:: NC_000008.11:67987912:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000008.11:67987912:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000008.11:67987912:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000008.11:67987912:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:67987912:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:67987912:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:67987912:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:67987912:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: PREX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.004/67 (TOMMO)
GT=0.00764/14 (Korea1K)
GT=0.01176/1 (Vietnamese)
-=0.21925/1098 (1000Genomes)
-=0.23948/888 (TWINSUK)
-=0.24183/932 (ALSPAC)
HGVS:: NC_000008.11:g.67987914TG[8], NC_000008.11:g.67987914TG[9], NC_000008.11:g.67987914TG[10], NC_000008.11:g.67987914TG[11], NC_000008.11:g.67987914TG[13], NC_000008.11:g.67987914TG[14], NC_000008.11:g.67987914TG[15], NC_000008.11:g.67987914TG[19], NC_000008.10:g.68900149TG[8], NC_000008.10:g.68900149TG[9], NC_000008.10:g.68900149TG[10], NC_000008.10:g.68900149TG[11], NC_000008.10:g.68900149TG[13], NC_000008.10:g.68900149TG[14], NC_000008.10:g.68900149TG[15], NC_000008.10:g.68900149TG[19], NG_047022.1:g.40932TG[8], NG_047022.1:g.40932TG[9], NG_047022.1:g.40932TG[10], NG_047022.1:g.40932TG[11], NG_047022.1:g.40932TG[13], NG_047022.1:g.40932TG[14], NG_047022.1:g.40932TG[15], NG_047022.1:g.40932TG[19]

Select item 149135067310.

rs1491350673 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT [Show Flanks]
Chromosome:: 8:68095533 (GRCh38)
8:69007769 (GRCh37)
Canonical SPDI:: NC_000008.11:68095533:T:TGT,NC_000008.11:68095533:T:TGTGT
Gene:: PREX2 (Varview), LOC105375888 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000008.11:g.68095534_68095535insGT, NC_000008.11:g.68095534_68095535insGTGT, NC_000008.10:g.69007769_69007770insGT, NC_000008.10:g.69007769_69007770insGTGT, NG_047022.1:g.148552_148553insGT, NG_047022.1:g.148552_148553insGTGT

Select item 149134522311.

rs1491345223 has merged into rs371245321 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT [Show Flanks]
Chromosome:: 8:67965515 (GRCh38)
8:68877750 (GRCh37)
Canonical SPDI:: NC_000008.11:67965507:TGTGTGTGT:TGTGTGT,NC_000008.11:67965507:TGTGTGTGT:TGTGTGTGTGT,NC_000008.11:67965507:TGTGTGTGT:TGTGTGTGTGTGT
Gene:: PREX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
TGTG=0.000004/1 (TOPMED)
-=0.000106/1 (TOMMO)
TG=0.01258/63 (1000Genomes)
TG=0.05/2 (GENOME_DK)
TG=0.075/36 (NorthernSweden)
TG=0.086839/322 (TWINSUK)
TG=0.096264/371 (ALSPAC)
HGVS:: NC_000008.11:g.67965509GT[3], NC_000008.11:g.67965509GT[5], NC_000008.11:g.67965509GT[6], NC_000008.10:g.68877744GT[3], NC_000008.10:g.68877744GT[5], NC_000008.10:g.68877744GT[6], NG_047022.1:g.18527GT[3], NG_047022.1:g.18527GT[5], NG_047022.1:g.18527GT[6]

Select item 149134017212.

rs1491340172 has merged into rs3056658 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:68049129 (GRCh38)
8:68961364 (GRCh37)
Canonical SPDI:: NC_000008.11:68049117:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:68049117:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:68049117:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:68049117:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:68049117:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:68049117:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:68049117:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:68049117:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:68049117:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:68049117:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:68049117:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:68049117:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PREX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000008.11:g.68049129_68049136del, NC_000008.11:g.68049130_68049136del, NC_000008.11:g.68049131_68049136del, NC_000008.11:g.68049133_68049136del, NC_000008.11:g.68049134_68049136del, NC_000008.11:g.68049135_68049136del, NC_000008.11:g.68049136del, NC_000008.11:g.68049136dup, NC_000008.11:g.68049135_68049136dup, NC_000008.11:g.68049134_68049136dup, NC_000008.11:g.68049133_68049136dup, NC_000008.11:g.68049132_68049136dup, NC_000008.10:g.68961364_68961371del, NC_000008.10:g.68961365_68961371del, NC_000008.10:g.68961366_68961371del, NC_000008.10:g.68961368_68961371del, NC_000008.10:g.68961369_68961371del, NC_000008.10:g.68961370_68961371del, NC_000008.10:g.68961371del, NC_000008.10:g.68961371dup, NC_000008.10:g.68961370_68961371dup, NC_000008.10:g.68961369_68961371dup, NC_000008.10:g.68961368_68961371dup, NC_000008.10:g.68961367_68961371dup, NG_047022.1:g.102147_102154del, NG_047022.1:g.102148_102154del, NG_047022.1:g.102149_102154del, NG_047022.1:g.102151_102154del, NG_047022.1:g.102152_102154del, NG_047022.1:g.102153_102154del, NG_047022.1:g.102154del, NG_047022.1:g.102154dup, NG_047022.1:g.102153_102154dup, NG_047022.1:g.102152_102154dup, NG_047022.1:g.102151_102154dup, NG_047022.1:g.102150_102154dup

Select item 149133694313.

rs1491336943 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:67955147 (GRCh38)
8:68867382 (GRCh37)
Canonical SPDI:: NC_000008.11:67955146:CA:
Gene:: PREX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00194/23 (ALFA)
-=0.00592/98 (TOMMO)
HGVS:: NC_000008.11:g.67955147_67955148del, NC_000008.10:g.68867382_68867383del, NG_047022.1:g.8165_8166del

Select item 149132908114.

rs1491329081 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 8:68158132 (GRCh38)
8:69070367 (GRCh37)
Canonical SPDI:: NC_000008.11:68158123:TATATATATATA:TATATATA,NC_000008.11:68158123:TATATATATATA:TATATATATA,NC_000008.11:68158123:TATATATATATA:TATATATATATATA
Gene:: PREX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATA=0./0 (ALFA)
TA=0.000015/4 (TOPMED)
-=0.000318/5 (TOMMO)
-=0.002183/4 (Korea1K)
HGVS:: NC_000008.11:g.68158124TA[4], NC_000008.11:g.68158124TA[5], NC_000008.11:g.68158124TA[7], NC_000008.10:g.69070359TA[4], NC_000008.10:g.69070359TA[5], NC_000008.10:g.69070359TA[7], NG_047022.1:g.211142TA[4], NG_047022.1:g.211142TA[5], NG_047022.1:g.211142TA[7]

Select item 149132741915.

rs1491327419 has merged into rs1554580154 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,TGTGTGTGTGTGTGTGTGTGT,TGTGTTGTGTGTGTGTGTGTGTGTGT,TTGTGTGTGTGT [Show Flanks]
Chromosome:: 8:68135099 (GRCh38)
8:69047335 (GRCh37)
Canonical SPDI:: NC_000008.11:68135099:T:TAT,NC_000008.11:68135099:T:TTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:68135099:T:TTGTGTTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:68135099:T:TTTGTGTGTGTGT
Gene:: PREX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000008.11:g.68135100_68135101insAT, NC_000008.11:g.68135100_68135101insTGTGTGTGTGTGTGTGTGTGT, NC_000008.11:g.68135100TTGTG[2]TG[8]T[1], NC_000008.11:g.68135100_68135101insTTGTGTGTGTGT, NC_000008.10:g.69047335_69047336insAT, NC_000008.10:g.69047335_69047336insTGTGTGTGTGTGTGTGTGTGT, NC_000008.10:g.69047335TTGTG[2]TG[8]T[1], NC_000008.10:g.69047335_69047336insTTGTGTGTGTGT, NG_047022.1:g.188118_188119insAT, NG_047022.1:g.188118_188119insTGTGTGTGTGTGTGTGTGTGT, NG_047022.1:g.188118TTGTG[2]TG[8]T[1], NG_047022.1:g.188118_188119insTTGTGTGTGTGT

Select item 149131665616.

rs1491316656 has merged into rs1032238630 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT [Show Flanks]
Chromosome:: 8:68095535 (GRCh38)
8:69007770 (GRCh37)
Canonical SPDI:: NC_000008.11:68095532:ATATAT:AT,NC_000008.11:68095532:ATATAT:ATAT
Gene:: PREX2 (Varview), LOC105375888 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
HGVS:: NC_000008.11:g.68095533AT[1], NC_000008.11:g.68095533AT[2], NC_000008.10:g.69007768AT[1], NC_000008.10:g.69007768AT[2], NG_047022.1:g.148551AT[1], NG_047022.1:g.148551AT[2]

Select item 149129886317.

rs1491298863 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:68231478 (GRCh38)
8:69143714 (GRCh37)
Canonical SPDI:: NC_000008.11:68231478::C
Gene:: PREX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.68231478_68231479insC, NC_000008.10:g.69143713_69143714insC, NG_047022.1:g.284496_284497insC, NM_024870.4:c.*100_*101insC, NM_024870.3:c.*100_*101insC, NM_024870.2:c.*100_*101insC, XM_047422267.1:c.*100_*101insC

Select item 149128024318.

rs1491280243 has merged into rs56001927 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:68093401 (GRCh38)
8:69005636 (GRCh37)
Canonical SPDI:: NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:68093390:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PREX2 (Varview), LOC105375888 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.4986/2497 (1000Genomes)
HGVS:: NC_000008.11:g.68093401_68093411del, NC_000008.11:g.68093402_68093411del, NC_000008.11:g.68093403_68093411del, NC_000008.11:g.68093404_68093411del, NC_000008.11:g.68093407_68093411del, NC_000008.11:g.68093408_68093411del, NC_000008.11:g.68093409_68093411del, NC_000008.11:g.68093410_68093411del, NC_000008.11:g.68093411del, NC_000008.11:g.68093411dup, NC_000008.11:g.68093410_68093411dup, NC_000008.11:g.68093409_68093411dup, NC_000008.11:g.68093408_68093411dup, NC_000008.11:g.68093407_68093411dup, NC_000008.11:g.68093406_68093411dup, NC_000008.11:g.68093405_68093411dup, NC_000008.11:g.68093404_68093411dup, NC_000008.11:g.68093402_68093411dup, NC_000008.11:g.68093401_68093411dup, NC_000008.11:g.68093411_68093412insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.69005636_69005646del, NC_000008.10:g.69005637_69005646del, NC_000008.10:g.69005638_69005646del, NC_000008.10:g.69005639_69005646del, NC_000008.10:g.69005642_69005646del, NC_000008.10:g.69005643_69005646del, NC_000008.10:g.69005644_69005646del, NC_000008.10:g.69005645_69005646del, NC_000008.10:g.69005646del, NC_000008.10:g.69005646dup, NC_000008.10:g.69005645_69005646dup, NC_000008.10:g.69005644_69005646dup, NC_000008.10:g.69005643_69005646dup, NC_000008.10:g.69005642_69005646dup, NC_000008.10:g.69005641_69005646dup, NC_000008.10:g.69005640_69005646dup, NC_000008.10:g.69005639_69005646dup, NC_000008.10:g.69005637_69005646dup, NC_000008.10:g.69005636_69005646dup, NC_000008.10:g.69005646_69005647insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047022.1:g.146419_146429del, NG_047022.1:g.146420_146429del, NG_047022.1:g.146421_146429del, NG_047022.1:g.146422_146429del, NG_047022.1:g.146425_146429del, NG_047022.1:g.146426_146429del, NG_047022.1:g.146427_146429del, NG_047022.1:g.146428_146429del, NG_047022.1:g.146429del, NG_047022.1:g.146429dup, NG_047022.1:g.146428_146429dup, NG_047022.1:g.146427_146429dup, NG_047022.1:g.146426_146429dup, NG_047022.1:g.146425_146429dup, NG_047022.1:g.146424_146429dup, NG_047022.1:g.146423_146429dup, NG_047022.1:g.146422_146429dup, NG_047022.1:g.146420_146429dup, NG_047022.1:g.146419_146429dup, NG_047022.1:g.146429_146430insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149126891419.

rs1491268914 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 8:68129722 (GRCh38)
8:69041958 (GRCh37)
Canonical SPDI:: NC_000008.11:68129722:TGTGT:TGTGTGT
Gene:: PREX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0.000071/1 (ALFA)
TG=0.000036/5 (GnomAD)
TG=0.000042/11 (TOPMED)
HGVS:: NC_000008.11:g.68129724GT[3], NC_000008.10:g.69041959GT[3], NG_047022.1:g.182742GT[3]

Select item 149123840220.

rs1491238402 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:68231496 (GRCh38)
8:69143731 (GRCh37)
Canonical SPDI:: NC_000008.11:68231494:TCT:T
Gene:: PREX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
-=0.000078/10 (GnomAD)
HGVS:: NC_000008.11:g.68231496_68231497del, NC_000008.10:g.69143731_69143732del, NG_047022.1:g.284514_284515del, NM_024870.4:c.*118_*119del, NM_024870.3:c.*118_*119del, NM_024870.2:c.*118_*119del, XM_047422267.1:c.*118_*119del

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