SNP Links for Gene (Select 284577) - SNP

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Select item 14914035091.

rs1491403509 has merged into rs34399162 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:205464333 (GRCh38)
1:205433461 (GRCh37)
Canonical SPDI:: NC_000001.11:205464328:CTCTCT:CTCT
Gene:: LEMD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.013167/185 (ALFA)
-=0.00027/1 (TWINSUK)
-=0.000519/2 (ALSPAC)
-=0.016396/82 (1000Genomes)
-=0.018194/2544 (GnomAD)
-=0.019521/5167 (TOPMED)
HGVS:: NC_000001.11:g.205464329CT[2], NC_000001.10:g.205433457CT[2]

Select item 14913712602.

rs1491371260 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:205457565 (GRCh38)
1:205426693 (GRCh37)
Canonical SPDI:: NC_000001.11:205457564:AG:
Gene:: LEMD1-DT (Varview), BLACAT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000001.11:g.205457565_205457566del, NC_000001.10:g.205426693_205426694del

Select item 14912959993.

rs1491295999 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G,GG [Show Flanks]
Chromosome:: 1:205457565 (GRCh38)
1:205426694 (GRCh37)
Canonical SPDI:: NC_000001.11:205457565:G:GG,NC_000001.11:205457565:G:GGG
Gene:: LEMD1-DT (Varview), BLACAT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.00107/15 (TOMMO)
HGVS:: NC_000001.11:g.205457566dup, NC_000001.11:g.205457566_205457567insGG, NC_000001.10:g.205426694dup, NC_000001.10:g.205426694_205426695insGG

Select item 14912941624.

rs1491294162 has merged into rs549091916 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:205466075 (GRCh38)
1:205435203 (GRCh37)
Canonical SPDI:: NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205466069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LEMD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.18371/920 (1000Genomes)
HGVS:: NC_000001.11:g.205466075_205466089del, NC_000001.11:g.205466079_205466089del, NC_000001.11:g.205466082_205466089del, NC_000001.11:g.205466083_205466089del, NC_000001.11:g.205466084_205466089del, NC_000001.11:g.205466085_205466089del, NC_000001.11:g.205466086_205466089del, NC_000001.11:g.205466087_205466089del, NC_000001.11:g.205466088_205466089del, NC_000001.11:g.205466089del, NC_000001.11:g.205466089dup, NC_000001.11:g.205466088_205466089dup, NC_000001.11:g.205466087_205466089dup, NC_000001.11:g.205466086_205466089dup, NC_000001.11:g.205466085_205466089dup, NC_000001.11:g.205466084_205466089dup, NC_000001.11:g.205466083_205466089dup, NC_000001.11:g.205466082_205466089dup, NC_000001.11:g.205466081_205466089dup, NC_000001.11:g.205466080_205466089dup, NC_000001.10:g.205435203_205435217del, NC_000001.10:g.205435207_205435217del, NC_000001.10:g.205435210_205435217del, NC_000001.10:g.205435211_205435217del, NC_000001.10:g.205435212_205435217del, NC_000001.10:g.205435213_205435217del, NC_000001.10:g.205435214_205435217del, NC_000001.10:g.205435215_205435217del, NC_000001.10:g.205435216_205435217del, NC_000001.10:g.205435217del, NC_000001.10:g.205435217dup, NC_000001.10:g.205435216_205435217dup, NC_000001.10:g.205435215_205435217dup, NC_000001.10:g.205435214_205435217dup, NC_000001.10:g.205435213_205435217dup, NC_000001.10:g.205435212_205435217dup, NC_000001.10:g.205435211_205435217dup, NC_000001.10:g.205435210_205435217dup, NC_000001.10:g.205435209_205435217dup, NC_000001.10:g.205435208_205435217dup

Select item 14911464735.

rs1491146473 has merged into rs10617693 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 1:205457577 (GRCh38)
1:205426705 (GRCh37)
Canonical SPDI:: NC_000001.11:205457567:GGGGGGGGGGGGG:GGGGGGGGG,NC_000001.11:205457567:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000001.11:205457567:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000001.11:205457567:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000001.11:205457567:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000001.11:205457567:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000001.11:205457567:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000001.11:205457567:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG
Gene:: LEMD1-DT (Varview), BLACAT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000001.11:g.205457577_205457580del, NC_000001.11:g.205457578_205457580del, NC_000001.11:g.205457579_205457580del, NC_000001.11:g.205457580del, NC_000001.11:g.205457580dup, NC_000001.11:g.205457579_205457580dup, NC_000001.11:g.205457578_205457580dup, NC_000001.11:g.205457577_205457580dup, NC_000001.10:g.205426705_205426708del, NC_000001.10:g.205426706_205426708del, NC_000001.10:g.205426707_205426708del, NC_000001.10:g.205426708del, NC_000001.10:g.205426708dup, NC_000001.10:g.205426707_205426708dup, NC_000001.10:g.205426706_205426708dup, NC_000001.10:g.205426705_205426708dup

Select item 14906507186.

rs1490650718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205457461 (GRCh38)
1:205426589 (GRCh37)
Canonical SPDI:: NC_000001.11:205457460:G:A
Gene:: LEMD1-DT (Varview), BLACAT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.205457461G>A, NC_000001.10:g.205426589G>A

Select item 14906358277.

rs1490635827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205458262 (GRCh38)
1:205427390 (GRCh37)
Canonical SPDI:: NC_000001.11:205458261:G:A
Gene:: LEMD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.205458262G>A, NC_000001.10:g.205427390G>A

Select item 14905131308.

rs1490513130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:205466098 (GRCh38)
1:205435226 (GRCh37)
Canonical SPDI:: NC_000001.11:205466097:G:C
Gene:: LEMD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000468/3 (1000Genomes)
HGVS:: NC_000001.11:g.205466098G>C, NC_000001.10:g.205435226G>C

Select item 14902290379.

rs1490229037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205464147 (GRCh38)
1:205433275 (GRCh37)
Canonical SPDI:: NC_000001.11:205464146:G:A
Gene:: LEMD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.205464147G>A, NC_000001.10:g.205433275G>A

Select item 149016145210.

rs1490161452 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205457157 (GRCh38)
1:205426285 (GRCh37)
Canonical SPDI:: NC_000001.11:205457156:G:A
Gene:: LEMD1-DT (Varview), BLACAT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.205457157G>A, NC_000001.10:g.205426285G>A

Select item 148967977811.

rs1489679778 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205463670 (GRCh38)
1:205432798 (GRCh37)
Canonical SPDI:: NC_000001.11:205463669:T:C
Gene:: LEMD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205463670T>C, NC_000001.10:g.205432798T>C

Select item 148933434212.

rs1489334342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:205463492 (GRCh38)
1:205432620 (GRCh37)
Canonical SPDI:: NC_000001.11:205463491:A:G
Gene:: LEMD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.205463492A>G, NC_000001.10:g.205432620A>G

Select item 148915673213.

rs1489156732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:205463767 (GRCh38)
1:205432895 (GRCh37)
Canonical SPDI:: NC_000001.11:205463766:C:G
Gene:: LEMD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.205463767C>G, NC_000001.10:g.205432895C>G

Select item 148907402114.

rs1489074021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:205456740 (GRCh38)
1:205425868 (GRCh37)
Canonical SPDI:: NC_000001.11:205456739:C:G
Gene:: LEMD1-DT (Varview), BLACAT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.205456740C>G, NC_000001.10:g.205425868C>G

Select item 148907278615.

rs1489072786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:205457518 (GRCh38)
1:205426646 (GRCh37)
Canonical SPDI:: NC_000001.11:205457517:A:T
Gene:: LEMD1-DT (Varview), BLACAT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205457518A>T, NC_000001.10:g.205426646A>T

Select item 148903798616.

rs1489037986 has merged into rs5780281 [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,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:205460863 (GRCh38)
1:205429991 (GRCh37)
Canonical SPDI:: NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205460852:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LEMD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.2526/1265 (1000Genomes)
HGVS:: NC_000001.11:g.205460863_205460876del, NC_000001.11:g.205460864_205460876del, NC_000001.11:g.205460865_205460876del, NC_000001.11:g.205460866_205460876del, NC_000001.11:g.205460867_205460876del, NC_000001.11:g.205460868_205460876del, NC_000001.11:g.205460869_205460876del, NC_000001.11:g.205460870_205460876del, NC_000001.11:g.205460871_205460876del, NC_000001.11:g.205460872_205460876del, NC_000001.11:g.205460873_205460876del, NC_000001.11:g.205460874_205460876del, NC_000001.11:g.205460875_205460876del, NC_000001.11:g.205460876del, NC_000001.11:g.205460876dup, NC_000001.11:g.205460875_205460876dup, NC_000001.11:g.205460874_205460876dup, NC_000001.11:g.205460873_205460876dup, NC_000001.11:g.205460872_205460876dup, NC_000001.11:g.205460871_205460876dup, NC_000001.11:g.205460870_205460876dup, NC_000001.11:g.205460869_205460876dup, NC_000001.11:g.205460868_205460876dup, NC_000001.11:g.205460867_205460876dup, NC_000001.11:g.205460866_205460876dup, NC_000001.11:g.205460865_205460876dup, NC_000001.11:g.205460863_205460876dup, NC_000001.11:g.205460862_205460876dup, NC_000001.11:g.205460861_205460876dup, NC_000001.11:g.205460860_205460876dup, NC_000001.11:g.205460859_205460876dup, NC_000001.11:g.205460858_205460876dup, NC_000001.11:g.205460856_205460876dup, NC_000001.10:g.205429991_205430004del, NC_000001.10:g.205429992_205430004del, NC_000001.10:g.205429993_205430004del, NC_000001.10:g.205429994_205430004del, NC_000001.10:g.205429995_205430004del, NC_000001.10:g.205429996_205430004del, NC_000001.10:g.205429997_205430004del, NC_000001.10:g.205429998_205430004del, NC_000001.10:g.205429999_205430004del, NC_000001.10:g.205430000_205430004del, NC_000001.10:g.205430001_205430004del, NC_000001.10:g.205430002_205430004del, NC_000001.10:g.205430003_205430004del, NC_000001.10:g.205430004del, NC_000001.10:g.205430004dup, NC_000001.10:g.205430003_205430004dup, NC_000001.10:g.205430002_205430004dup, NC_000001.10:g.205430001_205430004dup, NC_000001.10:g.205430000_205430004dup, NC_000001.10:g.205429999_205430004dup, NC_000001.10:g.205429998_205430004dup, NC_000001.10:g.205429997_205430004dup, NC_000001.10:g.205429996_205430004dup, NC_000001.10:g.205429995_205430004dup, NC_000001.10:g.205429994_205430004dup, NC_000001.10:g.205429993_205430004dup, NC_000001.10:g.205429991_205430004dup, NC_000001.10:g.205429990_205430004dup, NC_000001.10:g.205429989_205430004dup, NC_000001.10:g.205429988_205430004dup, NC_000001.10:g.205429987_205430004dup, NC_000001.10:g.205429986_205430004dup, NC_000001.10:g.205429984_205430004dup

Select item 148890750017.

rs1488907500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:205459367 (GRCh38)
1:205428495 (GRCh37)
Canonical SPDI:: NC_000001.11:205459366:G:T
Gene:: LEMD1-DT (Varview)
Functional Consequence:: 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_000001.11:g.205459367G>T, NC_000001.10:g.205428495G>T

Select item 148866437218.

rs1488664372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:205467249 (GRCh38)
1:205436377 (GRCh37)
Canonical SPDI:: NC_000001.11:205467248:C:A
Gene:: LEMD1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.205467249C>A, NC_000001.10:g.205436377C>A, NR_148934.1:n.981C>A

Select item 148863633519.

rs1488636335 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:205456769 (GRCh38)
1:205425897 (GRCh37)
Canonical SPDI:: NC_000001.11:205456768:A:T
Gene:: LEMD1-DT (Varview), BLACAT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205456769A>T, NC_000001.10:g.205425897A>T

Select item 148799483220.

rs1487994832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:205457740 (GRCh38)
1:205426868 (GRCh37)
Canonical SPDI:: NC_000001.11:205457739:C:A,NC_000001.11:205457739:C:G
Gene:: LEMD1-DT (Varview), BLACAT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205457740C>A, NC_000001.11:g.205457740C>G, NC_000001.10:g.205426868C>A, NC_000001.10:g.205426868C>G

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