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Select item 14915144591.

rs1491514459 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:10542787 (GRCh38)
11:10564334 (GRCh37)
Canonical SPDI:: NC_000011.10:10542786:CA:
Gene:: RNF141 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00986/117 (ALFA)
-=0.00035/10 (TOMMO)
-=0.002/42 (GnomAD)
HGVS:: NC_000011.10:g.10542787_10542788del, NC_000011.9:g.10564334_10564335del

Select item 14913063932.

rs1491306393 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:10553776 (GRCh38)
11:10575324 (GRCh37)
Canonical SPDI:: NC_000011.10:10553776::C
Gene:: IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00002/2 (GnomAD)
HGVS:: NC_000011.10:g.10553776_10553777insC, NC_000011.9:g.10575323_10575324insC

Select item 14912472643.

rs1491247264 has merged into rs529537973 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:10553786 (GRCh38)
11:10575333 (GRCh37)
Canonical SPDI:: NC_000011.10:10553775:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:10553775:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:10553775:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:10553775:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:10553775:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:10553775:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:10553775:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:10553775:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:10553775:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10553775:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.05212/261 (1000Genomes)
TT=0.11731/435 (TWINSUK)
TT=0.12169/469 (ALSPAC)
HGVS:: NC_000011.10:g.10553786_10553792del, NC_000011.10:g.10553789_10553792del, NC_000011.10:g.10553790_10553792del, NC_000011.10:g.10553791_10553792del, NC_000011.10:g.10553792del, NC_000011.10:g.10553792dup, NC_000011.10:g.10553791_10553792dup, NC_000011.10:g.10553790_10553792dup, NC_000011.10:g.10553789_10553792dup, NC_000011.10:g.10553786_10553792dup, NC_000011.9:g.10575333_10575339del, NC_000011.9:g.10575336_10575339del, NC_000011.9:g.10575337_10575339del, NC_000011.9:g.10575338_10575339del, NC_000011.9:g.10575339del, NC_000011.9:g.10575339dup, NC_000011.9:g.10575338_10575339dup, NC_000011.9:g.10575337_10575339dup, NC_000011.9:g.10575336_10575339dup, NC_000011.9:g.10575333_10575339dup

Select item 14911136194.

rs1491113619 has merged into rs3075189 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAATTTTAAAATATCTCTAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAATTTTAAAAAATCTCTAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAATAAAAAAACACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAATTTTAAAATATAACTAATAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAATTTTAAAATATCTCTTAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAATTTTAAAATATCTCTTAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:10542797 (GRCh38)
11:10564344 (GRCh37)
Canonical SPDI:: NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTAAAATATCTCTAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAATTTTAAAAAATCTCTAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAATAAAAAAACACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAATTTTAAAATATAACTAATAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAATTTTAAAATATCTCTTAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10542787:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAATTTTAAAATATCTCTTAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RNF141 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.10542797_10542809del, NC_000011.10:g.10542799_10542809del, NC_000011.10:g.10542801_10542809del, NC_000011.10:g.10542802_10542809del, NC_000011.10:g.10542803_10542809del, NC_000011.10:g.10542804_10542809del, NC_000011.10:g.10542805_10542809del, NC_000011.10:g.10542806_10542809del, NC_000011.10:g.10542807_10542809del, NC_000011.10:g.10542808_10542809del, NC_000011.10:g.10542809del, NC_000011.10:g.10542809dup, NC_000011.10:g.10542808_10542809dup, NC_000011.10:g.10542807_10542809dup, NC_000011.10:g.10542806_10542809dup, NC_000011.10:g.10542804_10542809dup, NC_000011.10:g.10542803_10542809dup, NC_000011.10:g.10542802_10542809dup, NC_000011.10:g.10542801_10542809dup, NC_000011.10:g.10542799_10542809dup, NC_000011.10:g.10542788_10542809A[31]T[4]A[4]TATCTCTAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.10542788_10542809A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.10542788_10542809A[24]GAAAAATTTTAAAAAATCTCTAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.10542788_10542809A[23]GAAAAAATAAAAAAACACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.10542788_10542809A[23]GAAAAATTTTAAAATATAACTAATAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.10542788_10542809A[23]GAAAAATTTTAAAATATCTCTTAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.10542788_10542809A[23]GAAAAATTTTAAAATATCTCTTAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.10564344_10564356del, NC_000011.9:g.10564346_10564356del, NC_000011.9:g.10564348_10564356del, NC_000011.9:g.10564349_10564356del, NC_000011.9:g.10564350_10564356del, NC_000011.9:g.10564351_10564356del, NC_000011.9:g.10564352_10564356del, NC_000011.9:g.10564353_10564356del, NC_000011.9:g.10564354_10564356del, NC_000011.9:g.10564355_10564356del, NC_000011.9:g.10564356del, NC_000011.9:g.10564356dup, NC_000011.9:g.10564355_10564356dup, NC_000011.9:g.10564354_10564356dup, NC_000011.9:g.10564353_10564356dup, NC_000011.9:g.10564351_10564356dup, NC_000011.9:g.10564350_10564356dup, NC_000011.9:g.10564349_10564356dup, NC_000011.9:g.10564348_10564356dup, NC_000011.9:g.10564346_10564356dup, NC_000011.9:g.10564335_10564356A[31]T[4]A[4]TATCTCTAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.10564335_10564356A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.10564335_10564356A[24]GAAAAATTTTAAAAAATCTCTAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.10564335_10564356A[23]GAAAAAATAAAAAAACACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.10564335_10564356A[23]GAAAAATTTTAAAATATAACTAATAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.10564335_10564356A[23]GAAAAATTTTAAAATATCTCTTAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.10564335_10564356A[23]GAAAAATTTTAAAATATCTCTTAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14910646475.

rs1491064647 has merged into rs71034774 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:10562958 (GRCh38)
11:10584505 (GRCh37)
Canonical SPDI:: NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:10562946:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LYVE1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000057/15 (TOPMED)
HGVS:: NC_000011.10:g.10562958_10562971del, NC_000011.10:g.10562959_10562971del, NC_000011.10:g.10562960_10562971del, NC_000011.10:g.10562961_10562971del, NC_000011.10:g.10562962_10562971del, NC_000011.10:g.10562963_10562971del, NC_000011.10:g.10562964_10562971del, NC_000011.10:g.10562965_10562971del, NC_000011.10:g.10562966_10562971del, NC_000011.10:g.10562967_10562971del, NC_000011.10:g.10562968_10562971del, NC_000011.10:g.10562969_10562971del, NC_000011.10:g.10562970_10562971del, NC_000011.10:g.10562971del, NC_000011.10:g.10562971dup, NC_000011.10:g.10562970_10562971dup, NC_000011.10:g.10562969_10562971dup, NC_000011.10:g.10562968_10562971dup, NC_000011.10:g.10562967_10562971dup, NC_000011.10:g.10562966_10562971dup, NC_000011.10:g.10562965_10562971dup, NC_000011.10:g.10562964_10562971dup, NC_000011.10:g.10562963_10562971dup, NC_000011.10:g.10562962_10562971dup, NC_000011.10:g.10562960_10562971dup, NC_000011.10:g.10562958_10562971dup, NC_000011.10:g.10562957_10562971dup, NC_000011.10:g.10562971_10562972insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.10562971_10562972insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.10562971_10562972insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.10584505_10584518del, NC_000011.9:g.10584506_10584518del, NC_000011.9:g.10584507_10584518del, NC_000011.9:g.10584508_10584518del, NC_000011.9:g.10584509_10584518del, NC_000011.9:g.10584510_10584518del, NC_000011.9:g.10584511_10584518del, NC_000011.9:g.10584512_10584518del, NC_000011.9:g.10584513_10584518del, NC_000011.9:g.10584514_10584518del, NC_000011.9:g.10584515_10584518del, NC_000011.9:g.10584516_10584518del, NC_000011.9:g.10584517_10584518del, NC_000011.9:g.10584518del, NC_000011.9:g.10584518dup, NC_000011.9:g.10584517_10584518dup, NC_000011.9:g.10584516_10584518dup, NC_000011.9:g.10584515_10584518dup, NC_000011.9:g.10584514_10584518dup, NC_000011.9:g.10584513_10584518dup, NC_000011.9:g.10584512_10584518dup, NC_000011.9:g.10584511_10584518dup, NC_000011.9:g.10584510_10584518dup, NC_000011.9:g.10584509_10584518dup, NC_000011.9:g.10584507_10584518dup, NC_000011.9:g.10584505_10584518dup, NC_000011.9:g.10584504_10584518dup, NC_000011.9:g.10584518_10584519insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.10584518_10584519insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.10584518_10584519insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910358596.

rs1491035859 has merged into rs551270054 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:10545536 (GRCh38)
11:10567083 (GRCh37)
Canonical SPDI:: NC_000011.10:10545525:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:10545525:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:10545525:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:10545525:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:10545525:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:10545525:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:10545525:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:10545525:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:10545525:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10545525:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:10545525:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.10545536_10545539del, NC_000011.10:g.10545537_10545539del, NC_000011.10:g.10545538_10545539del, NC_000011.10:g.10545539del, NC_000011.10:g.10545539dup, NC_000011.10:g.10545538_10545539dup, NC_000011.10:g.10545537_10545539dup, NC_000011.10:g.10545535_10545539dup, NC_000011.10:g.10545533_10545539dup, NC_000011.10:g.10545539_10545540insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.10545539_10545540insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.10567083_10567086del, NC_000011.9:g.10567084_10567086del, NC_000011.9:g.10567085_10567086del, NC_000011.9:g.10567086del, NC_000011.9:g.10567086dup, NC_000011.9:g.10567085_10567086dup, NC_000011.9:g.10567084_10567086dup, NC_000011.9:g.10567082_10567086dup, NC_000011.9:g.10567080_10567086dup, NC_000011.9:g.10567086_10567087insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.10567086_10567087insAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14910237407.

rs1491023740 has merged into rs3075191 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT,CTCTCT,CTCTCTCT [Show Flanks]
Chromosome:: 11:10578852 (GRCh38)
11:10600399 (GRCh37)
Canonical SPDI:: NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCT,NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCT,NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCTCT,NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCTCTCT
Gene:: IRAG1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCTCT=0./0 (ALFA)
-=0.31485/5276 (TOMMO)
CTCT=0.42232/1892 (Estonian)
CTCT=0.425/17 (GENOME_DK)
CTCT=0.43487/434 (GoNL)
CTCT=0.44888/2248 (1000Genomes)
CTCT=0.46333/278 (NorthernSweden)
HGVS:: NC_000011.10:g.10578844CT[4], NC_000011.10:g.10578844CT[6], NC_000011.10:g.10578844CT[7], NC_000011.10:g.10578844CT[8], NC_000011.9:g.10600391CT[4], NC_000011.9:g.10600391CT[6], NC_000011.9:g.10600391CT[7], NC_000011.9:g.10600391CT[8]

Select item 14909948168.

rs1490994816 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:10599308 (GRCh38)
11:10620855 (GRCh37)
Canonical SPDI:: NC_000011.10:10599307:A:G
Gene:: IRAG1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.10599308A>G, NC_000011.9:g.10620855A>G

Select item 14909899739.

rs1490989973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:10563928 (GRCh38)
11:10585475 (GRCh37)
Canonical SPDI:: NC_000011.10:10563927:G:A
Gene:: LYVE1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000011.10:g.10563928G>A, NC_000011.9:g.10585475G>A

Select item 149095297410.

rs1490952974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:10575039 (GRCh38)
11:10596586 (GRCh37)
Canonical SPDI:: NC_000011.10:10575038:A:T
Gene:: IRAG1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.10575039A>T, NC_000011.9:g.10596586A>T, NM_130385.4:c.*1293T>A, NM_130385.3:c.*1293T>A, NM_001100163.3:c.*1293T>A, NM_001100163.2:c.*1293T>A, NM_001098579.3:c.*1293T>A, NM_001098579.2:c.*1293T>A, NM_001100167.3:c.*1293T>A, NM_001100167.2:c.*1293T>A, NM_001206881.2:c.*1293T>A, NM_001206881.1:c.*1293T>A, NM_001206880.2:c.*1293T>A, NM_001206880.1:c.*1293T>A

Select item 149054538911.

rs1490545389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:10583025 (GRCh38)
11:10604572 (GRCh37)
Canonical SPDI:: NC_000011.10:10583024:G:A
Gene:: IRAG1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000038/10 (TOPMED)
HGVS:: NC_000011.10:g.10583025G>A, NC_000011.9:g.10604572G>A

Select item 149050507512.

rs1490505075 [Homo sapiens]

Variant type:: DEL
Alleles:: AGAAGCGGAGAGCTCAAATTTTGA>- [Show Flanks]
Chromosome:: 11:10577657 (GRCh38)
11:10599204 (GRCh37)
Canonical SPDI:: NC_000011.10:10577656:AGAAGCGGAGAGCTCAAATTTTGA:
Gene:: IRAG1 (Varview), IRAG1-AS1 (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_000011.10:g.10577657_10577680del, NC_000011.9:g.10599204_10599227del

Select item 149049983013.

rs1490499830 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:10564284 (GRCh38)
11:10585831 (GRCh37)
Canonical SPDI:: NC_000011.10:10564283:T:C
Gene:: LYVE1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.10564284T>C, NC_000011.9:g.10585831T>C, NM_006691.4:c.176A>G, NM_006691.3:c.176A>G, NM_016164.2:c.176A>G, NM_016164.1:c.176A>G, NP_006682.2:p.Glu59Gly

Select item 149036974014.

rs1490369740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:10542788 (GRCh38)
11:10564335 (GRCh37)
Canonical SPDI:: NC_000011.10:10542787:A:C
Gene:: RNF141 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.10542788A>C, NC_000011.9:g.10564335A>C

Select item 149029692115.

rs1490296921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:10545474 (GRCh38)
11:10567021 (GRCh37)
Canonical SPDI:: NC_000011.10:10545473:G:A
Gene:: IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.10545474G>A, NC_000011.9:g.10567021G>A

Select item 149024856316.

rs1490248563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:10569411 (GRCh38)
11:10590958 (GRCh37)
Canonical SPDI:: NC_000011.10:10569410:C:A
Gene:: LYVE1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.10569411C>A, NC_000011.9:g.10590958C>A

Select item 149022424817.

rs1490224248 has merged into rs1002537571 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 11:10551924 (GRCh38)
11:10573471 (GRCh37)
Canonical SPDI:: NC_000011.10:10551923:AAAAAAAA:AAAAAAA,NC_000011.10:10551923:AAAAAAAA:AAAAAAAAA
Gene:: IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.10551931del, NC_000011.10:g.10551931dup, NC_000011.9:g.10573478del, NC_000011.9:g.10573478dup

Select item 149020574818.

rs1490205748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:10543638 (GRCh38)
11:10565185 (GRCh37)
Canonical SPDI:: NC_000011.10:10543637:C:T
Gene:: IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.10543638C>T, NC_000011.9:g.10565185C>T

Select item 149019828019.

rs1490198280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:10553053 (GRCh38)
11:10574600 (GRCh37)
Canonical SPDI:: NC_000011.10:10553052:C:T
Gene:: IRAG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.10553053C>T, NC_000011.9:g.10574600C>T

Select item 149014958520.

rs1490149585 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:10576457 (GRCh38)
11:10598004 (GRCh37)
Canonical SPDI:: NC_000011.10:10576456:A:T
Gene:: IRAG1 (Varview), IRAG1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.10576457A>T, NC_000011.9:g.10598004A>T, NM_130385.4:c.2614T>A, NM_130385.3:c.2614T>A, NM_001100163.3:c.2341T>A, NM_001100163.2:c.2341T>A, NM_001098579.3:c.2590T>A, NM_001098579.2:c.2590T>A, NM_001100167.3:c.1669T>A, NM_001100167.2:c.1669T>A, NM_001206881.2:c.1669T>A, NM_001206881.1:c.1669T>A, NM_001206880.2:c.1996T>A, NM_001206880.1:c.1996T>A, NM_006069.2:c.2554T>A, NM_006069.1:c.2554T>A, NP_569056.4:p.Tyr872Asn, NP_001093633.1:p.Tyr781Asn, NP_001092049.2:p.Tyr864Asn, NP_001093637.1:p.Tyr557Asn, NP_001193810.1:p.Tyr557Asn, NP_001193809.1:p.Tyr666Asn

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