SNP Links for Gene (Select 4047) - SNP

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Select item 14915774851.

rs1491577485 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 21:46221366 (GRCh38)
21:47641280 (GRCh37)
Canonical SPDI:: NC_000021.9:46221364:TAT:T
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00027/1 (TWINSUK)
-=0.00052/2 (ALSPAC)
HGVS:: NC_000021.9:g.46221366_46221367del, NC_000021.8:g.47641280_47641281del, NG_011510.1:g.12459_12460del

Select item 14915743872.

rs1491574387 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTGTG [Show Flanks]
Chromosome:: 21:46193255 (GRCh38)
21:47613169 (GRCh37)
Canonical SPDI:: NC_000021.9:46193250:TGTGTGTG:TGTG,NC_000021.9:46193250:TGTGTGTG:TGTGTG,NC_000021.9:46193250:TGTGTGTG:TGTGTGTGTGTG
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000018/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.46193251TG[2], NC_000021.9:g.46193251TG[3], NC_000021.9:g.46193251TG[6], NC_000021.8:g.47613165TG[2], NC_000021.8:g.47613165TG[3], NC_000021.8:g.47613165TG[6], NG_011510.1:g.40567CA[2], NG_011510.1:g.40567CA[3], NG_011510.1:g.40567CA[6], NT_187626.1:g.54621TG[2], NT_187626.1:g.54621TG[3], NT_187626.1:g.54621TG[6]

Select item 14914670883.

rs1491467088 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 21:46227704 (GRCh38)
21:47647618 (GRCh37)
Canonical SPDI:: NC_000021.9:46227703:GA:
Gene:: LSS (Varview), MCM3AP-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.11962/461 (ALSPAC)
-=0.13403/497 (TWINSUK)
HGVS:: NC_000021.9:g.46227704_46227705del, NC_000021.8:g.47647618_47647619del, NG_011510.1:g.6120_6121del

Select item 14913709744.

rs1491370974 has merged into rs146297977 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 21:46192603 (GRCh38)
21:47612517 (GRCh37)
Canonical SPDI:: NC_000021.9:46192598:TGTGTG:TGTG,NC_000021.9:46192598:TGTGTG:TGTGTGTG
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTG=0./0 (ALFA)
-=0.23777/1157 (ExAC)
TG=0.27895/1397 (1000Genomes)
TG=0.38294/229 (NorthernSweden)
TG=0.7842/13140 (TOMMO)
HGVS:: NC_000021.9:g.46192599TG[2], NC_000021.9:g.46192599TG[4], NC_000021.8:g.47612513TG[2], NC_000021.8:g.47612513TG[4], NG_011510.1:g.41221CA[2], NG_011510.1:g.41221CA[4], NT_187626.1:g.53969TG[2], NT_187626.1:g.53969TG[4]

Select item 14913350895.

rs1491335089 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACGT [Show Flanks]
Chromosome:: 21:46193251 (GRCh38)
21:47613166 (GRCh37)
Canonical SPDI:: NC_000021.9:46193251:GT:GTACGT
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTACGT=0.00008/1 (ALFA)
HGVS:: NC_000021.9:g.46193253_46193254insACGT, NC_000021.8:g.47613167_47613168insACGT, NG_011510.1:g.40573_40574insGTAC, NT_187626.1:g.54623_54624insACGT

Select item 14913270506.

rs1491327050 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 21:46192871 (GRCh38)
21:47612785 (GRCh37)
Canonical SPDI:: NC_000021.9:46192868:ATAT:AT
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
HGVS:: NC_000021.9:g.46192869AT[1], NC_000021.8:g.47612783AT[1], NG_011510.1:g.40953AT[1], NT_187626.1:g.54239AT[1]

Select item 14913230087.

rs1491323008 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 21:46193247 (GRCh38)
21:47613161 (GRCh37)
Canonical SPDI:: NC_000021.9:46193245:GCG:G
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000009/1 (GnomAD_exomes)
-=0.000252/2 (ExAC)
-=0.002593/199 (GnomAD)
-=0.021795/191 (TOMMO)
HGVS:: NC_000021.9:g.46193247_46193248del, NC_000021.8:g.47613161_47613162del, NG_011510.1:g.40578_40579del, NT_187626.1:g.54617_54618del

Select item 14912606158.

rs1491260615 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 21:46217243 (GRCh38)
21:47637157 (GRCh37)
Canonical SPDI:: NC_000021.9:46217242:CA:
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.01273/151 (ALFA)
HGVS:: NC_000021.9:g.46217243_46217244del, NC_000021.8:g.47637157_47637158del, NG_011510.1:g.16581_16582del, NT_187626.1:g.78613_78614del

Select item 14912435599.

rs1491243559 has merged into rs10550493 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 21:46227714 (GRCh38)
21:47647628 (GRCh37)
Canonical SPDI:: NC_000021.9:46227704:AAAAAAAAAAAAA:AAAAAAAAA,NC_000021.9:46227704:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:46227704:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:46227704:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:46227704:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:46227704:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:46227704:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:46227704:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: LSS (Varview), MCM3AP-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0.000405/6 (ALFA)
-=0.015054/35 (1000Genomes)
-=0.467517/123747 (TOPMED)
HGVS:: NC_000021.9:g.46227714_46227717del, NC_000021.9:g.46227715_46227717del, NC_000021.9:g.46227716_46227717del, NC_000021.9:g.46227717del, NC_000021.9:g.46227717dup, NC_000021.9:g.46227716_46227717dup, NC_000021.9:g.46227715_46227717dup, NC_000021.9:g.46227711_46227717dup, NC_000021.8:g.47647628_47647631del, NC_000021.8:g.47647629_47647631del, NC_000021.8:g.47647630_47647631del, NC_000021.8:g.47647631del, NC_000021.8:g.47647631dup, NC_000021.8:g.47647630_47647631dup, NC_000021.8:g.47647629_47647631dup, NC_000021.8:g.47647625_47647631dup, NG_011510.1:g.6117_6120del, NG_011510.1:g.6118_6120del, NG_011510.1:g.6119_6120del, NG_011510.1:g.6120del, NG_011510.1:g.6120dup, NG_011510.1:g.6119_6120dup, NG_011510.1:g.6118_6120dup, NG_011510.1:g.6114_6120dup

Select item 149113821510.

rs1491138215 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 21:46189830 (GRCh38)
21:47609744 (GRCh37)
Canonical SPDI:: NC_000021.9:46189829:TA:
Gene:: LSS (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000447/4 (ALFA)
-=0./0 (ExAC)
-=0.000031/4 (GnomAD)
-=0.000128/13 (GnomAD_exomes)
HGVS:: NC_000021.9:g.46189830_46189831del, NC_000021.8:g.47609744_47609745del, NG_011510.1:g.43994_43995del, NM_002340.6:c.*1273_*1274del, NM_002340.5:c.*1273_*1274del, NM_001145437.2:c.*1273_*1274del, NM_001145437.1:c.*1273_*1274del, NM_001145436.2:c.*1273_*1274del, NM_001145436.1:c.*1273_*1274del, NT_187626.1:g.51200_51201del

Select item 149112863311.

rs1491128633 has merged into rs1185218764 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 21:46217259 (GRCh38)
21:47637173 (GRCh37)
Canonical SPDI:: NC_000021.9:46217258:AAAA:AAA,NC_000021.9:46217258:AAAA:AAAAA
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000021.9:g.46217262del, NC_000021.9:g.46217262dup, NC_000021.8:g.47637176del, NC_000021.8:g.47637176dup, NG_011510.1:g.16566del, NG_011510.1:g.16566dup, NT_187626.1:g.78632del, NT_187626.1:g.78632dup

Select item 149111436712.

rs1491114367 has merged into rs35148484 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 21:46198841 (GRCh38)
21:47618755 (GRCh37)
Canonical SPDI:: NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:46198829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000021.9:g.46198841_46198852del, NC_000021.9:g.46198842_46198852del, NC_000021.9:g.46198843_46198852del, NC_000021.9:g.46198844_46198852del, NC_000021.9:g.46198845_46198852del, NC_000021.9:g.46198846_46198852del, NC_000021.9:g.46198847_46198852del, NC_000021.9:g.46198848_46198852del, NC_000021.9:g.46198849_46198852del, NC_000021.9:g.46198850_46198852del, NC_000021.9:g.46198851_46198852del, NC_000021.9:g.46198852del, NC_000021.9:g.46198852dup, NC_000021.9:g.46198851_46198852dup, NC_000021.9:g.46198850_46198852dup, NC_000021.9:g.46198849_46198852dup, NC_000021.9:g.46198848_46198852dup, NC_000021.9:g.46198847_46198852dup, NC_000021.9:g.46198846_46198852dup, NC_000021.9:g.46198845_46198852dup, NC_000021.9:g.46198844_46198852dup, NC_000021.9:g.46198843_46198852dup, NC_000021.9:g.46198842_46198852dup, NC_000021.9:g.46198837_46198852dup, NC_000021.9:g.46198836_46198852dup, NC_000021.9:g.46198832_46198852dup, NC_000021.9:g.46198852_46198853insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.46198830_46198852A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.8:g.47618755_47618766del, NC_000021.8:g.47618756_47618766del, NC_000021.8:g.47618757_47618766del, NC_000021.8:g.47618758_47618766del, NC_000021.8:g.47618759_47618766del, NC_000021.8:g.47618760_47618766del, NC_000021.8:g.47618761_47618766del, NC_000021.8:g.47618762_47618766del, NC_000021.8:g.47618763_47618766del, NC_000021.8:g.47618764_47618766del, NC_000021.8:g.47618765_47618766del, NC_000021.8:g.47618766del, NC_000021.8:g.47618766dup, NC_000021.8:g.47618765_47618766dup, NC_000021.8:g.47618764_47618766dup, NC_000021.8:g.47618763_47618766dup, NC_000021.8:g.47618762_47618766dup, NC_000021.8:g.47618761_47618766dup, NC_000021.8:g.47618760_47618766dup, NC_000021.8:g.47618759_47618766dup, NC_000021.8:g.47618758_47618766dup, NC_000021.8:g.47618757_47618766dup, NC_000021.8:g.47618756_47618766dup, NC_000021.8:g.47618751_47618766dup, NC_000021.8:g.47618750_47618766dup, NC_000021.8:g.47618746_47618766dup, NC_000021.8:g.47618766_47618767insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.47618744_47618766A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_011510.1:g.34984_34995del, NG_011510.1:g.34985_34995del, NG_011510.1:g.34986_34995del, NG_011510.1:g.34987_34995del, NG_011510.1:g.34988_34995del, NG_011510.1:g.34989_34995del, NG_011510.1:g.34990_34995del, NG_011510.1:g.34991_34995del, NG_011510.1:g.34992_34995del, NG_011510.1:g.34993_34995del, NG_011510.1:g.34994_34995del, NG_011510.1:g.34995del, NG_011510.1:g.34995dup, NG_011510.1:g.34994_34995dup, NG_011510.1:g.34993_34995dup, NG_011510.1:g.34992_34995dup, NG_011510.1:g.34991_34995dup, NG_011510.1:g.34990_34995dup, NG_011510.1:g.34989_34995dup, NG_011510.1:g.34988_34995dup, NG_011510.1:g.34987_34995dup, NG_011510.1:g.34986_34995dup, NG_011510.1:g.34985_34995dup, NG_011510.1:g.34980_34995dup, NG_011510.1:g.34979_34995dup, NG_011510.1:g.34975_34995dup, NG_011510.1:g.34995_34996insTTTTTTTTTTTTTTTTTTTTTTTT, NG_011510.1:g.34973_34995T[31]GTTTTTTTTTTTTTTTTTTTTTTT[1], NT_187626.1:g.60211_60222del, NT_187626.1:g.60212_60222del, NT_187626.1:g.60213_60222del, NT_187626.1:g.60214_60222del, NT_187626.1:g.60215_60222del, NT_187626.1:g.60216_60222del, NT_187626.1:g.60217_60222del, NT_187626.1:g.60218_60222del, NT_187626.1:g.60219_60222del, NT_187626.1:g.60220_60222del, NT_187626.1:g.60221_60222del, NT_187626.1:g.60222del, NT_187626.1:g.60222dup, NT_187626.1:g.60221_60222dup, NT_187626.1:g.60220_60222dup, NT_187626.1:g.60219_60222dup, NT_187626.1:g.60218_60222dup, NT_187626.1:g.60217_60222dup, NT_187626.1:g.60216_60222dup, NT_187626.1:g.60215_60222dup, NT_187626.1:g.60214_60222dup, NT_187626.1:g.60213_60222dup, NT_187626.1:g.60212_60222dup, NT_187626.1:g.60207_60222dup, NT_187626.1:g.60206_60222dup, NT_187626.1:g.60202_60222dup, NT_187626.1:g.60222_60223insAAAAAAAAAAAAAAAAAAAAAAAA, NT_187626.1:g.60200_60222A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149110590313.

rs1491105903 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 21:46192635 (GRCh38)
21:47612550 (GRCh37)
Canonical SPDI:: NC_000021.9:46192635:T:TGT
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000021.9:g.46192636_46192637insGT, NC_000021.8:g.47612550_47612551insGT, NG_011510.1:g.41189_41190insCA, NT_187626.1:g.54006_54007insGT

Select item 149092009514.

rs1490920095 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 21:46192901 (GRCh38)
21:47612815 (GRCh37)
Canonical SPDI:: NC_000021.9:46192900:AT:
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000021.9:g.46192901_46192902del, NC_000021.8:g.47612815_47612816del, NG_011510.1:g.40923_40924del, NT_187626.1:g.54271_54272del

Select item 149088312615.

rs1490883126 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 21:46204385 (GRCh38)
21:47624299 (GRCh37)
Canonical SPDI:: NC_000021.9:46204384:A:
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.46204385del, NC_000021.8:g.47624299del, NG_011510.1:g.29440del, NT_187626.1:g.65755del

Select item 149083347916.

rs1490833479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:46191535 (GRCh38)
21:47611449 (GRCh37)
Canonical SPDI:: NC_000021.9:46191534:C:G
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.46191535C>G, NC_000021.8:g.47611449C>G, NG_011510.1:g.42290G>C, NT_187626.1:g.52905C>G

Select item 149078311917.

rs1490783119 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:46192365 (GRCh38)
21:47612279 (GRCh37)
Canonical SPDI:: NC_000021.9:46192364:T:C
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000021.9:g.46192365T>C, NC_000021.8:g.47612279T>C, NG_011510.1:g.41460A>G, NT_187626.1:g.53735T>C

Select item 149073814918.

rs1490738149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:46220973 (GRCh38)
21:47640887 (GRCh37)
Canonical SPDI:: NC_000021.9:46220972:T:C
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000028/3 (GnomAD)
HGVS:: NC_000021.9:g.46220973T>C, NC_000021.8:g.47640887T>C, NG_011510.1:g.12852A>G, NT_187626.1:g.82343T>C

Select item 149068984819.

rs1490689848 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 21:46207546 (GRCh38)
21:47627460 (GRCh37)
Canonical SPDI:: NC_000021.9:46207545:CC:C
Gene:: LSS (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.46207547del, NC_000021.8:g.47627461del, NG_011510.1:g.26279del, NM_002340.6:c.1349del, NM_002340.5:c.1349del, NM_001001438.3:c.1349del, NM_001001438.2:c.1349del, NM_001145437.2:c.1109del, NM_001145437.1:c.1109del, NM_001145436.2:c.1316del, NM_001145436.1:c.1316del, NT_187626.1:g.68917del, NP_002331.3:p.Gly450fs, NP_001001438.1:p.Gly450fs, NP_001138909.1:p.Gly370fs, NP_001138908.1:p.Gly439fs

Select item 149066779320.

rs1490667793 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:46208399 (GRCh38)
21:47628313 (GRCh37)
Canonical SPDI:: NC_000021.9:46208398:A:G
Gene:: LSS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.46208399A>G, NC_000021.8:g.47628313A>G, NG_011510.1:g.25426T>C, NT_187626.1:g.69769A>G

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