SNP Links for Gene (Select 284576) - SNP

Links from Gene

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Select item 14914693321.

rs1491469332 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:205374717 (GRCh38)
1:205343845 (GRCh37)
Canonical SPDI:: NC_000001.11:205374716:GT:
Gene:: LEMD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000057/15 (TOPMED)
HGVS:: NC_000001.11:g.205374717_205374718del, NC_000001.10:g.205343845_205343846del

Select item 14914669042.

rs1491466904 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:205386308 (GRCh38)
1:205355437 (GRCh37)
Canonical SPDI:: NC_000001.11:205386308:C:CC
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.205386309dup, NC_000001.10:g.205355437dup, NR_038425.1:n.1650dup

Select item 14914215633.

rs1491421563 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:205374717 (GRCh38)
1:205343846 (GRCh37)
Canonical SPDI:: NC_000001.11:205374717:TTTTTT:TTTTTTT
Gene:: LEMD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.205374723dup, NC_000001.10:g.205343851dup

Select item 14911426554.

rs1491142655 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:205386309 (GRCh38)
1:205355437 (GRCh37)
Canonical SPDI:: NC_000001.11:205386307:TCT:T
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.205386309_205386310del, NC_000001.10:g.205355437_205355438del, NR_038425.1:n.1650_1651del

Select item 14910090855.

rs1491009085 has merged into rs71568048 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:205372977 (GRCh38)
1:205342105 (GRCh37)
Canonical SPDI:: NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205372967:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LEMD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.00003/8 (TOPMED)
-=0.289474/11 (GENOME_DK)
HGVS:: NC_000001.11:g.205372977_205372997del, NC_000001.11:g.205372978_205372997del, NC_000001.11:g.205372979_205372997del, NC_000001.11:g.205372980_205372997del, NC_000001.11:g.205372981_205372997del, NC_000001.11:g.205372983_205372997del, NC_000001.11:g.205372984_205372997del, NC_000001.11:g.205372985_205372997del, NC_000001.11:g.205372986_205372997del, NC_000001.11:g.205372987_205372997del, NC_000001.11:g.205372988_205372997del, NC_000001.11:g.205372989_205372997del, NC_000001.11:g.205372990_205372997del, NC_000001.11:g.205372991_205372997del, NC_000001.11:g.205372992_205372997del, NC_000001.11:g.205372993_205372997del, NC_000001.11:g.205372994_205372997del, NC_000001.11:g.205372995_205372997del, NC_000001.11:g.205372996_205372997del, NC_000001.11:g.205372997del, NC_000001.11:g.205372997dup, NC_000001.11:g.205372996_205372997dup, NC_000001.11:g.205372995_205372997dup, NC_000001.11:g.205372994_205372997dup, NC_000001.11:g.205372993_205372997dup, NC_000001.11:g.205372992_205372997dup, NC_000001.11:g.205372991_205372997dup, NC_000001.11:g.205372990_205372997dup, NC_000001.11:g.205372989_205372997dup, NC_000001.11:g.205372988_205372997dup, NC_000001.11:g.205372987_205372997dup, NC_000001.11:g.205372986_205372997dup, NC_000001.11:g.205372985_205372997dup, NC_000001.11:g.205372984_205372997dup, NC_000001.11:g.205372983_205372997dup, NC_000001.11:g.205372973_205372997dup, NC_000001.11:g.205372972_205372997dup, NC_000001.11:g.205372971_205372997dup, NC_000001.11:g.205372997_205372998insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.205372997_205372998insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.205372968_205372997A[39]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.205342105_205342125del, NC_000001.10:g.205342106_205342125del, NC_000001.10:g.205342107_205342125del, NC_000001.10:g.205342108_205342125del, NC_000001.10:g.205342109_205342125del, NC_000001.10:g.205342111_205342125del, NC_000001.10:g.205342112_205342125del, NC_000001.10:g.205342113_205342125del, NC_000001.10:g.205342114_205342125del, NC_000001.10:g.205342115_205342125del, NC_000001.10:g.205342116_205342125del, NC_000001.10:g.205342117_205342125del, NC_000001.10:g.205342118_205342125del, NC_000001.10:g.205342119_205342125del, NC_000001.10:g.205342120_205342125del, NC_000001.10:g.205342121_205342125del, NC_000001.10:g.205342122_205342125del, NC_000001.10:g.205342123_205342125del, NC_000001.10:g.205342124_205342125del, NC_000001.10:g.205342125del, NC_000001.10:g.205342125dup, NC_000001.10:g.205342124_205342125dup, NC_000001.10:g.205342123_205342125dup, NC_000001.10:g.205342122_205342125dup, NC_000001.10:g.205342121_205342125dup, NC_000001.10:g.205342120_205342125dup, NC_000001.10:g.205342119_205342125dup, NC_000001.10:g.205342118_205342125dup, NC_000001.10:g.205342117_205342125dup, NC_000001.10:g.205342116_205342125dup, NC_000001.10:g.205342115_205342125dup, NC_000001.10:g.205342114_205342125dup, NC_000001.10:g.205342113_205342125dup, NC_000001.10:g.205342112_205342125dup, NC_000001.10:g.205342111_205342125dup, NC_000001.10:g.205342101_205342125dup, NC_000001.10:g.205342100_205342125dup, NC_000001.10:g.205342099_205342125dup, NC_000001.10:g.205342125_205342126insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.205342125_205342126insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.205342096_205342125A[39]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14910065136.

rs1491006513 has merged into rs112731126 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:205383964 (GRCh38)
1:205353092 (GRCh37)
Canonical SPDI:: NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.23482/1176 (1000Genomes)
HGVS:: NC_000001.11:g.205383964_205383966del, NC_000001.11:g.205383965_205383966del, NC_000001.11:g.205383966del, NC_000001.11:g.205383966dup, NC_000001.11:g.205383965_205383966dup, NC_000001.11:g.205383964_205383966dup, NC_000001.11:g.205383963_205383966dup, NC_000001.11:g.205383960_205383966dup, NC_000001.11:g.205383959_205383966dup, NC_000001.11:g.205383966_205383967insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.205353092_205353094del, NC_000001.10:g.205353093_205353094del, NC_000001.10:g.205353094del, NC_000001.10:g.205353094dup, NC_000001.10:g.205353093_205353094dup, NC_000001.10:g.205353092_205353094dup, NC_000001.10:g.205353091_205353094dup, NC_000001.10:g.205353088_205353094dup, NC_000001.10:g.205353087_205353094dup, NC_000001.10:g.205353094_205353095insTTTTTTTTTTTTTTTTTTTTTT

Select item 14909291467.

rs1490929146 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205387540 (GRCh38)
1:205356668 (GRCh37)
Canonical SPDI:: NC_000001.11:205387539:C:T
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205387540C>T, NC_000001.10:g.205356668C>T

Select item 14904126698.

rs1490412669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205372849 (GRCh38)
1:205341977 (GRCh37)
Canonical SPDI:: NC_000001.11:205372848:G:A
Gene:: LEMD1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.205372849G>A, NC_000001.10:g.205341977G>A

Select item 14903969479.

rs1490396947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205373767 (GRCh38)
1:205342895 (GRCh37)
Canonical SPDI:: NC_000001.11:205373766:C:T
Gene:: LEMD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.205373767C>T, NC_000001.10:g.205342895C>T

Select item 149031953110.

rs1490319531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205380660 (GRCh38)
1:205349788 (GRCh37)
Canonical SPDI:: NC_000001.11:205380659:C:T
Gene:: LEMD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000057/15 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000001.11:g.205380660C>T, NC_000001.10:g.205349788C>T

Select item 148993077111.

rs1489930771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205372344 (GRCh38)
1:205341472 (GRCh37)
Canonical SPDI:: NC_000001.11:205372343:G:A
Gene:: LEMD1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.205372344G>A, NC_000001.10:g.205341472G>A, NG_076547.1:g.64G>A

Select item 148983075612.

rs1489830756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:205380243 (GRCh38)
1:205349371 (GRCh37)
Canonical SPDI:: NC_000001.11:205380242:C:G,NC_000001.11:205380242:C:T
Gene:: LEMD1-AS1 (Varview), LOC105371698 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205380243C>G, NC_000001.11:g.205380243C>T, NC_000001.10:g.205349371C>G, NC_000001.10:g.205349371C>T

Select item 148941125813.

rs1489411258 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205380222 (GRCh38)
1:205349350 (GRCh37)
Canonical SPDI:: NC_000001.11:205380221:T:C
Gene:: LEMD1-AS1 (Varview), LOC105371698 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205380222T>C, NC_000001.10:g.205349350T>C

Select item 148928993614.

rs1489289936 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205383782 (GRCh38)
1:205352910 (GRCh37)
Canonical SPDI:: NC_000001.11:205383781:T:C
Gene:: LEMD1 (Varview), LEMD1-AS1 (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.205383782T>C, NC_000001.10:g.205352910T>C

Select item 148899176415.

rs1488991764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:205374843 (GRCh38)
1:205343971 (GRCh37)
Canonical SPDI:: NC_000001.11:205374842:G:A,NC_000001.11:205374842:G:C
Gene:: LEMD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.205374843G>A, NC_000001.11:g.205374843G>C, NC_000001.10:g.205343971G>A, NC_000001.10:g.205343971G>C

Select item 148870686716.

rs1488706867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205383976 (GRCh38)
1:205353104 (GRCh37)
Canonical SPDI:: NC_000001.11:205383975:C:T
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.205383976C>T, NC_000001.10:g.205353104C>T

Select item 148850957617.

rs1488509576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205387427 (GRCh38)
1:205356555 (GRCh37)
Canonical SPDI:: NC_000001.11:205387426:T:C
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.205387427T>C, NC_000001.10:g.205356555T>C, NR_038425.1:n.2768T>C

Select item 148830779518.

rs1488307795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205383327 (GRCh38)
1:205352455 (GRCh37)
Canonical SPDI:: NC_000001.11:205383326:T:C
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.205383327T>C, NC_000001.10:g.205352455T>C

Select item 148827065019.

rs1488270650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205382863 (GRCh38)
1:205351991 (GRCh37)
Canonical SPDI:: NC_000001.11:205382862:G:A
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000001.11:g.205382863G>A, NC_000001.10:g.205351991G>A

Select item 148809461620.

rs1488094616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:205375305 (GRCh38)
1:205344433 (GRCh37)
Canonical SPDI:: NC_000001.11:205375304:T:G
Gene:: LEMD1-AS1 (Varview)
Functional Consequence:: intron_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.205375305T>G, NC_000001.10:g.205344433T>G

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