SNP Links for Gene (Select 4009) - SNP

Links from Gene

Items: 1 to 20 of 33058

<< First< Prev

Page of 1653

Next >Last >>

Select item 14915457471.

rs1491545747 [Homo sapiens]

Variant type:: INS
Alleles:: ->GC,GTTGC [Show Flanks]
Chromosome:: 1:165313491 (GRCh38)
1:165282729 (GRCh37)
Canonical SPDI:: NC_000001.11:165313491::GC,NC_000001.11:165313491::GTTGC
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTGC=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.165313491_165313492insGC, NC_000001.11:g.165313491_165313492insGTTGC, NC_000001.10:g.165282728_165282729insGC, NC_000001.10:g.165282728_165282729insGTTGC

Select item 14915338952.

rs1491533895 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:165299769 (GRCh38)
1:165269007 (GRCh37)
Canonical SPDI:: NC_000001.11:165299769:T:TT
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.00007/2 (GnomAD)
HGVS:: NC_000001.11:g.165299770dup, NC_000001.10:g.165269007dup

Select item 14914962273.

rs1491496227 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:165299769 (GRCh38)
1:165269006 (GRCh37)
Canonical SPDI:: NC_000001.11:165299768:CT:
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.165299769_165299770del, NC_000001.10:g.165269006_165269007del

Select item 14914892714.

rs1491489271 has merged into rs67511030 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 1:165281746 (GRCh38)
1:165250983 (GRCh37)
Canonical SPDI:: NC_000001.11:165281744:TAT:T,NC_000001.11:165281744:TAT:TATAT
Gene:: LMX1A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000253/3 (ALFA)
-=0.000602/10 (TOMMO)
-=0.000738/93 (GnomAD)
-=0.002183/4 (Korea1K)
HGVS:: NC_000001.11:g.165281746_165281747del, NC_000001.11:g.165281746_165281747dup, NC_000001.10:g.165250983_165250984del, NC_000001.10:g.165250983_165250984dup

Select item 14914355905.

rs1491435590 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:165313493 (GRCh38)
1:165282730 (GRCh37)
Canonical SPDI:: NC_000001.11:165313491:TGT:T
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00025/3 (ALFA)
HGVS:: NC_000001.11:g.165313493_165313494del, NC_000001.10:g.165282730_165282731del

Select item 14913743686.

rs1491374368 has merged into rs35937155 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:165242944 (GRCh38)
1:165212181 (GRCh37)
Canonical SPDI:: NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165242929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.165242944_165242947del, NC_000001.11:g.165242945_165242947del, NC_000001.11:g.165242946_165242947del, NC_000001.11:g.165242947del, NC_000001.11:g.165242947dup, NC_000001.11:g.165242946_165242947dup, NC_000001.11:g.165242945_165242947dup, NC_000001.11:g.165242944_165242947dup, NC_000001.11:g.165242943_165242947dup, NC_000001.11:g.165242942_165242947dup, NC_000001.11:g.165242941_165242947dup, NC_000001.11:g.165242940_165242947dup, NC_000001.11:g.165242939_165242947dup, NC_000001.11:g.165242938_165242947dup, NC_000001.11:g.165242937_165242947dup, NC_000001.11:g.165242936_165242947dup, NC_000001.11:g.165242935_165242947dup, NC_000001.11:g.165242934_165242947dup, NC_000001.11:g.165242933_165242947dup, NC_000001.11:g.165242932_165242947dup, NC_000001.11:g.165242931_165242947dup, NC_000001.11:g.165242930_165242947dup, NC_000001.11:g.165242947_165242948insAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.165212181_165212184del, NC_000001.10:g.165212182_165212184del, NC_000001.10:g.165212183_165212184del, NC_000001.10:g.165212184del, NC_000001.10:g.165212184dup, NC_000001.10:g.165212183_165212184dup, NC_000001.10:g.165212182_165212184dup, NC_000001.10:g.165212181_165212184dup, NC_000001.10:g.165212180_165212184dup, NC_000001.10:g.165212179_165212184dup, NC_000001.10:g.165212178_165212184dup, NC_000001.10:g.165212177_165212184dup, NC_000001.10:g.165212176_165212184dup, NC_000001.10:g.165212175_165212184dup, NC_000001.10:g.165212174_165212184dup, NC_000001.10:g.165212173_165212184dup, NC_000001.10:g.165212172_165212184dup, NC_000001.10:g.165212171_165212184dup, NC_000001.10:g.165212170_165212184dup, NC_000001.10:g.165212169_165212184dup, NC_000001.10:g.165212168_165212184dup, NC_000001.10:g.165212167_165212184dup, NC_000001.10:g.165212184_165212185insAAAAAAAAAAAAAAAAAAA

Select item 14913733577.

rs1491373357 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:165242466 (GRCh38)
1:165211703 (GRCh37)
Canonical SPDI:: NC_000001.11:165242465:GC:
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.165242466_165242467del, NC_000001.10:g.165211703_165211704del

Select item 14913672928.

rs1491367292 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ACACACACA [Show Flanks]
Chromosome:: 1:165319042 (GRCh38)
1:165288280 (GRCh37)
Canonical SPDI:: NC_000001.11:165319042::A,NC_000001.11:165319042::ACACACACA
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.165319042_165319043insA, NC_000001.11:g.165319042_165319043insACACACACA, NC_000001.10:g.165288279_165288280insA, NC_000001.10:g.165288279_165288280insACACACACA

Select item 14913648679.

rs1491364867 has merged into rs60150264 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:165350184 (GRCh38)
1:165319421 (GRCh37)
Canonical SPDI:: NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165350173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LMX1A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.096/481 (1000Genomes)
HGVS:: NC_000001.11:g.165350184_165350197del, NC_000001.11:g.165350185_165350197del, NC_000001.11:g.165350186_165350197del, NC_000001.11:g.165350187_165350197del, NC_000001.11:g.165350188_165350197del, NC_000001.11:g.165350189_165350197del, NC_000001.11:g.165350190_165350197del, NC_000001.11:g.165350191_165350197del, NC_000001.11:g.165350192_165350197del, NC_000001.11:g.165350193_165350197del, NC_000001.11:g.165350194_165350197del, NC_000001.11:g.165350195_165350197del, NC_000001.11:g.165350196_165350197del, NC_000001.11:g.165350197del, NC_000001.11:g.165350197dup, NC_000001.11:g.165350196_165350197dup, NC_000001.11:g.165350195_165350197dup, NC_000001.11:g.165350194_165350197dup, NC_000001.11:g.165350193_165350197dup, NC_000001.11:g.165350192_165350197dup, NC_000001.11:g.165350191_165350197dup, NC_000001.11:g.165350190_165350197dup, NC_000001.11:g.165350189_165350197dup, NC_000001.11:g.165350188_165350197dup, NC_000001.11:g.165350187_165350197dup, NC_000001.11:g.165350186_165350197dup, NC_000001.11:g.165350185_165350197dup, NC_000001.11:g.165350178_165350197dup, NC_000001.11:g.165350176_165350197dup, NC_000001.11:g.165350175_165350197dup, NC_000001.10:g.165319421_165319434del, NC_000001.10:g.165319422_165319434del, NC_000001.10:g.165319423_165319434del, NC_000001.10:g.165319424_165319434del, NC_000001.10:g.165319425_165319434del, NC_000001.10:g.165319426_165319434del, NC_000001.10:g.165319427_165319434del, NC_000001.10:g.165319428_165319434del, NC_000001.10:g.165319429_165319434del, NC_000001.10:g.165319430_165319434del, NC_000001.10:g.165319431_165319434del, NC_000001.10:g.165319432_165319434del, NC_000001.10:g.165319433_165319434del, NC_000001.10:g.165319434del, NC_000001.10:g.165319434dup, NC_000001.10:g.165319433_165319434dup, NC_000001.10:g.165319432_165319434dup, NC_000001.10:g.165319431_165319434dup, NC_000001.10:g.165319430_165319434dup, NC_000001.10:g.165319429_165319434dup, NC_000001.10:g.165319428_165319434dup, NC_000001.10:g.165319427_165319434dup, NC_000001.10:g.165319426_165319434dup, NC_000001.10:g.165319425_165319434dup, NC_000001.10:g.165319424_165319434dup, NC_000001.10:g.165319423_165319434dup, NC_000001.10:g.165319422_165319434dup, NC_000001.10:g.165319415_165319434dup, NC_000001.10:g.165319413_165319434dup, NC_000001.10:g.165319412_165319434dup

Select item 149127312110.

rs1491273121 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:165292061 (GRCh38)
1:165261298 (GRCh37)
Canonical SPDI:: NC_000001.11:165292060:CA:
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000001.11:g.165292061_165292062del, NC_000001.10:g.165261298_165261299del

Select item 149126930311.

rs1491269303 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:165275887 (GRCh38)
1:165245124 (GRCh37)
Canonical SPDI:: NC_000001.11:165275885:TTT:T
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.165275887_165275888del, NC_000001.10:g.165245124_165245125del

Select item 149124742512.

rs1491247425 has merged into rs3038077 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>-,TCTC [Show Flanks]
Chromosome:: 1:165235424 (GRCh38)
1:165204661 (GRCh37)
Canonical SPDI:: NC_000001.11:165235422:CTC:C,NC_000001.11:165235422:CTC:CTCTC
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.286967/3404 (ALFA)
-=0.319494/40248 (GnomAD)
-=0.358848/1383 (ALSPAC)
-=0.37918/1406 (TWINSUK)
-=0.435/261 (NorthernSweden)
-=0.469352/7866 (TOMMO)
-=0.479803/879 (Korea1K)
HGVS:: NC_000001.11:g.165235424_165235425del, NC_000001.11:g.165235424_165235425dup, NC_000001.10:g.165204661_165204662del, NC_000001.10:g.165204661_165204662dup

Select item 149123874613.

rs1491238746 has merged into rs6143463 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:165337906 (GRCh38)
1:165307143 (GRCh37)
Canonical SPDI:: NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165337888:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: LMX1A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000001.11:g.165337890GT[8], NC_000001.11:g.165337890GT[10], NC_000001.11:g.165337890GT[11], NC_000001.11:g.165337890GT[12], NC_000001.11:g.165337890GT[13], NC_000001.11:g.165337890GT[14], NC_000001.11:g.165337890GT[15], NC_000001.11:g.165337890GT[16], NC_000001.11:g.165337890GT[17], NC_000001.11:g.165337890GT[18], NC_000001.11:g.165337890GT[19], NC_000001.11:g.165337890GT[20], NC_000001.11:g.165337890GT[21], NC_000001.11:g.165337890GT[22], NC_000001.11:g.165337890GT[23], NC_000001.11:g.165337890GT[24], NC_000001.11:g.165337890GT[25], NC_000001.11:g.165337890GT[26], NC_000001.11:g.165337890GT[27], NC_000001.11:g.165337890GT[28], NC_000001.11:g.165337890GT[29], NC_000001.11:g.165337890GT[30], NC_000001.10:g.165307127GT[8], NC_000001.10:g.165307127GT[10], NC_000001.10:g.165307127GT[11], NC_000001.10:g.165307127GT[12], NC_000001.10:g.165307127GT[13], NC_000001.10:g.165307127GT[14], NC_000001.10:g.165307127GT[15], NC_000001.10:g.165307127GT[16], NC_000001.10:g.165307127GT[17], NC_000001.10:g.165307127GT[18], NC_000001.10:g.165307127GT[19], NC_000001.10:g.165307127GT[20], NC_000001.10:g.165307127GT[21], NC_000001.10:g.165307127GT[22], NC_000001.10:g.165307127GT[23], NC_000001.10:g.165307127GT[24], NC_000001.10:g.165307127GT[25], NC_000001.10:g.165307127GT[26], NC_000001.10:g.165307127GT[27], NC_000001.10:g.165307127GT[28], NC_000001.10:g.165307127GT[29], NC_000001.10:g.165307127GT[30]

Select item 149121893314.

rs1491218933 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 1:165242466 (GRCh38)
1:165211704 (GRCh37)
Canonical SPDI:: NC_000001.11:165242466::A,NC_000001.11:165242466::AA
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000001.11:g.165242466_165242467insA, NC_000001.11:g.165242466_165242467insAA, NC_000001.10:g.165211703_165211704insA, NC_000001.10:g.165211703_165211704insAA

Select item 149119299715.

rs1491192997 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTGTGCGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:165337889 (GRCh38)
1:165307127 (GRCh37)
Canonical SPDI:: NC_000001.11:165337889:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTGT
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
GTGTGTGTGTGTGTGTGTGTGTGTGC=0.000008/2 (TOPMED)
GTGTGTGTGTGTGTGTGTGTGTGTGC=0.000745/3 (GnomAD)
HGVS:: NC_000001.11:g.165337890_165337907GT[12]GCGTGTGTGTGTGTGTGTGT[1], NC_000001.10:g.165307127_165307144GT[12]GCGTGTGTGTGTGTGTGTGT[1]

Select item 149116969016.

rs1491169690 has merged into rs11302510 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:165236864 (GRCh38)
1:165206101 (GRCh37)
Canonical SPDI:: NC_000001.11:165236852:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:165236852:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:165236852:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:165236852:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:165236852:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:165236852:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:165236852:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:165236852:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165236852:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.4617/2312 (1000Genomes)
HGVS:: NC_000001.11:g.165236864_165236867del, NC_000001.11:g.165236865_165236867del, NC_000001.11:g.165236866_165236867del, NC_000001.11:g.165236867del, NC_000001.11:g.165236867dup, NC_000001.11:g.165236866_165236867dup, NC_000001.11:g.165236865_165236867dup, NC_000001.11:g.165236862_165236867dup, NC_000001.11:g.165236854_165236867dup, NC_000001.10:g.165206101_165206104del, NC_000001.10:g.165206102_165206104del, NC_000001.10:g.165206103_165206104del, NC_000001.10:g.165206104del, NC_000001.10:g.165206104dup, NC_000001.10:g.165206103_165206104dup, NC_000001.10:g.165206102_165206104dup, NC_000001.10:g.165206099_165206104dup, NC_000001.10:g.165206091_165206104dup

Select item 149115185917.

rs1491151859 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:165350173 (GRCh38)
1:165319410 (GRCh37)
Canonical SPDI:: NC_000001.11:165350172:CA:
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00076/9 (ALFA)
HGVS:: NC_000001.11:g.165350173_165350174del, NC_000001.10:g.165319410_165319411del

Select item 149112534618.

rs1491125346 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:165292086 (GRCh38)
1:165261323 (GRCh37)
Canonical SPDI:: NC_000001.11:165292084:ACA:A
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.165292086_165292087del, NC_000001.10:g.165261323_165261324del

Select item 149105423819.

rs1491054238 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:165242946 (GRCh38)
1:165212184 (GRCh37)
Canonical SPDI:: NC_000001.11:165242946::C
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000001.11:g.165242946_165242947insC, NC_000001.10:g.165212183_165212184insC

Select item 149104057720.

rs1491040577 has merged into rs71097567 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:165247065 (GRCh38)
1:165216302 (GRCh37)
Canonical SPDI:: NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165247054:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LMX1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.165247065_165247080del, NC_000001.11:g.165247067_165247080del, NC_000001.11:g.165247068_165247080del, NC_000001.11:g.165247069_165247080del, NC_000001.11:g.165247070_165247080del, NC_000001.11:g.165247071_165247080del, NC_000001.11:g.165247072_165247080del, NC_000001.11:g.165247073_165247080del, NC_000001.11:g.165247074_165247080del, NC_000001.11:g.165247075_165247080del, NC_000001.11:g.165247076_165247080del, NC_000001.11:g.165247077_165247080del, NC_000001.11:g.165247078_165247080del, NC_000001.11:g.165247079_165247080del, NC_000001.11:g.165247080del, NC_000001.11:g.165247080dup, NC_000001.11:g.165247079_165247080dup, NC_000001.11:g.165247078_165247080dup, NC_000001.11:g.165247077_165247080dup, NC_000001.11:g.165247076_165247080dup, NC_000001.11:g.165247075_165247080dup, NC_000001.11:g.165247074_165247080dup, NC_000001.11:g.165247073_165247080dup, NC_000001.11:g.165247072_165247080dup, NC_000001.11:g.165247071_165247080dup, NC_000001.11:g.165247070_165247080dup, NC_000001.11:g.165247069_165247080dup, NC_000001.11:g.165247068_165247080dup, NC_000001.11:g.165247067_165247080dup, NC_000001.11:g.165247066_165247080dup, NC_000001.11:g.165247065_165247080dup, NC_000001.11:g.165247064_165247080dup, NC_000001.11:g.165247063_165247080dup, NC_000001.11:g.165247062_165247080dup, NC_000001.11:g.165247061_165247080dup, NC_000001.11:g.165247060_165247080dup, NC_000001.11:g.165247059_165247080dup, NC_000001.11:g.165247058_165247080dup, NC_000001.11:g.165247057_165247080dup, NC_000001.11:g.165247056_165247080dup, NC_000001.11:g.165247055_165247080dup, NC_000001.11:g.165247080_165247081insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.165247080_165247081insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.165247080_165247081insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.165247080_165247081insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.165247080_165247081insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.165247080_165247081insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.165247080_165247081insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.165247080_165247081insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.165247080_165247081insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.165247080_165247081insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.165247080_165247081insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.165247080_165247081insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.165247080_165247081insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.165247080_165247081insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.165247080_165247081insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165216302_165216317del, NC_000001.10:g.165216304_165216317del, NC_000001.10:g.165216305_165216317del, NC_000001.10:g.165216306_165216317del, NC_000001.10:g.165216307_165216317del, NC_000001.10:g.165216308_165216317del, NC_000001.10:g.165216309_165216317del, NC_000001.10:g.165216310_165216317del, NC_000001.10:g.165216311_165216317del, NC_000001.10:g.165216312_165216317del, NC_000001.10:g.165216313_165216317del, NC_000001.10:g.165216314_165216317del, NC_000001.10:g.165216315_165216317del, NC_000001.10:g.165216316_165216317del, NC_000001.10:g.165216317del, NC_000001.10:g.165216317dup, NC_000001.10:g.165216316_165216317dup, NC_000001.10:g.165216315_165216317dup, NC_000001.10:g.165216314_165216317dup, NC_000001.10:g.165216313_165216317dup, NC_000001.10:g.165216312_165216317dup, NC_000001.10:g.165216311_165216317dup, NC_000001.10:g.165216310_165216317dup, NC_000001.10:g.165216309_165216317dup, NC_000001.10:g.165216308_165216317dup, NC_000001.10:g.165216307_165216317dup, NC_000001.10:g.165216306_165216317dup, NC_000001.10:g.165216305_165216317dup, NC_000001.10:g.165216304_165216317dup, NC_000001.10:g.165216303_165216317dup, NC_000001.10:g.165216302_165216317dup, NC_000001.10:g.165216301_165216317dup, NC_000001.10:g.165216300_165216317dup, NC_000001.10:g.165216299_165216317dup, NC_000001.10:g.165216298_165216317dup, NC_000001.10:g.165216297_165216317dup, NC_000001.10:g.165216296_165216317dup, NC_000001.10:g.165216295_165216317dup, NC_000001.10:g.165216294_165216317dup, NC_000001.10:g.165216293_165216317dup, NC_000001.10:g.165216292_165216317dup, NC_000001.10:g.165216317_165216318insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165216317_165216318insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165216317_165216318insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165216317_165216318insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165216317_165216318insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165216317_165216318insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165216317_165216318insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165216317_165216318insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165216317_165216318insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165216317_165216318insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165216317_165216318insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165216317_165216318insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165216317_165216318insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165216317_165216318insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165216317_165216318insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

<< First< Prev

Page of 1653

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 33058

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity