SNP Links for Gene (Select 79748) - SNP

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Select item 14912287001.

rs1491228700 has merged into rs5813784 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 15:74811502 (GRCh38)
15:75103843 (GRCh37)
Canonical SPDI:: NC_000015.10:74811490:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:74811490:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:74811490:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:74811490:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:74811490:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:74811490:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:74811490:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: LMAN1L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.1847/685 (TWINSUK)
A=0.2071/798 (ALSPAC)
A=0.325/13 (GENOME_DK)
HGVS:: NC_000015.10:g.74811502_74811505del, NC_000015.10:g.74811503_74811505del, NC_000015.10:g.74811504_74811505del, NC_000015.10:g.74811505del, NC_000015.10:g.74811505dup, NC_000015.10:g.74811504_74811505dup, NC_000015.10:g.74811503_74811505dup, NC_000015.9:g.75103843_75103846del, NC_000015.9:g.75103844_75103846del, NC_000015.9:g.75103845_75103846del, NC_000015.9:g.75103846del, NC_000015.9:g.75103846dup, NC_000015.9:g.75103845_75103846dup, NC_000015.9:g.75103844_75103846dup, NG_052659.1:g.3650_3653del, NG_052659.1:g.3651_3653del, NG_052659.1:g.3652_3653del, NG_052659.1:g.3653del, NG_052659.1:g.3653dup, NG_052659.1:g.3652_3653dup, NG_052659.1:g.3651_3653dup

Select item 14910069882.

rs1491006988 has merged into rs1555467041 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 15:74818036 (GRCh38)
15:75110377 (GRCh37)
Canonical SPDI:: NC_000015.10:74818028:AGAGAGAGAGA:AGAGAGA,NC_000015.10:74818028:AGAGAGAGAGA:AGAGAGAGA,NC_000015.10:74818028:AGAGAGAGAGA:AGAGAGAGAGAGA
Gene:: LMAN1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGA=0./0 (ALFA)
AG=0.00004/1 (TOMMO)
AG=0.00055/1 (Korea1K)
HGVS:: NC_000015.10:g.74818030GA[3], NC_000015.10:g.74818030GA[4], NC_000015.10:g.74818030GA[6], NC_000015.9:g.75110371GA[3], NC_000015.9:g.75110371GA[4], NC_000015.9:g.75110371GA[6], NG_052659.1:g.10178GA[3], NG_052659.1:g.10178GA[4], NG_052659.1:g.10178GA[6]

Select item 14907658903.

rs1490765890 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 15:74820368 (GRCh38)
15:75112709 (GRCh37)
Canonical SPDI:: NC_000015.10:74820361:GAGGAGGAG:GAGGAG
Gene:: LMAN1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.74820362GAG[2], NC_000015.9:g.75112703GAG[2], NG_052659.1:g.12510GAG[2]

Select item 14907437754.

rs1490743775 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:74816491 (GRCh38)
15:75108832 (GRCh37)
Canonical SPDI:: NC_000015.10:74816490:A:G
Gene:: LMAN1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.74816491A>G, NC_000015.9:g.75108832A>G, NG_052659.1:g.8639A>G, NM_021819.3:c.395A>G, NM_021819.2:c.395A>G, NP_068591.2:p.Asp132Gly

Select item 14906172845.

rs1490617284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74818097 (GRCh38)
15:75110438 (GRCh37)
Canonical SPDI:: NC_000015.10:74818096:G:A
Gene:: LMAN1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.74818097G>A, NC_000015.9:g.75110438G>A, NG_052659.1:g.10245G>A

Select item 14906013796.

rs1490601379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74819917 (GRCh38)
15:75112258 (GRCh37)
Canonical SPDI:: NC_000015.10:74819916:G:A
Gene:: LMAN1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.74819917G>A, NC_000015.9:g.75112258G>A, NG_052659.1:g.12065G>A

Select item 14904074037.

rs1490407403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74816475 (GRCh38)
15:75108816 (GRCh37)
Canonical SPDI:: NC_000015.10:74816474:G:A
Gene:: LMAN1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74816475G>A, NC_000015.9:g.75108816G>A, NG_052659.1:g.8623G>A, NM_021819.3:c.379G>A, NM_021819.2:c.379G>A, NP_068591.2:p.Gly127Arg

Select item 14903242098.

rs1490324209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:74811574 (GRCh38)
15:75103915 (GRCh37)
Canonical SPDI:: NC_000015.10:74811573:T:A
Gene:: LMAN1L (Varview)
Functional Consequence:: 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_000015.10:g.74811574T>A, NC_000015.9:g.75103915T>A, NG_052659.1:g.3722T>A

Select item 14900099299.

rs1490009929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:74822330 (GRCh38)
15:75114671 (GRCh37)
Canonical SPDI:: NC_000015.10:74822329:C:T
Gene:: LMAN1L (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000015.10:g.74822330C>T, NC_000015.9:g.75114671C>T, NG_052659.1:g.14478C>T

Select item 148953123010.

rs1489531230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74819208 (GRCh38)
15:75111549 (GRCh37)
Canonical SPDI:: NC_000015.10:74819207:G:A
Gene:: LMAN1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.74819208G>A, NC_000015.9:g.75111549G>A, NG_052659.1:g.11356G>A, NM_021819.3:c.654G>A, NM_021819.2:c.654G>A

Select item 148949314211.

rs1489493142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74820380 (GRCh38)
15:75112721 (GRCh37)
Canonical SPDI:: NC_000015.10:74820379:G:A
Gene:: LMAN1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.74820380G>A, NC_000015.9:g.75112721G>A, NG_052659.1:g.12528G>A

Select item 148856079612.

rs1488560796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:74822360 (GRCh38)
15:75114701 (GRCh37)
Canonical SPDI:: NC_000015.10:74822359:A:T
Gene:: LMAN1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.74822360A>T, NC_000015.9:g.75114701A>T, NG_052659.1:g.14508A>T

Select item 148854848513.

rs1488548485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:74820609 (GRCh38)
15:75112950 (GRCh37)
Canonical SPDI:: NC_000015.10:74820608:C:A
Gene:: LMAN1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74820609C>A, NC_000015.9:g.75112950C>A, NG_052659.1:g.12757C>A

Select item 148844045314.

rs1488440453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74825372 (GRCh38)
15:75117713 (GRCh37)
Canonical SPDI:: NC_000015.10:74825371:G:A
Gene:: LMAN1L (Varview), CPLX3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_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_000015.10:g.74825372G>A, NC_000015.9:g.75117713G>A, NG_052659.1:g.17520G>A

Select item 148813253515.

rs1488132535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:74813517 (GRCh38)
15:75105858 (GRCh37)
Canonical SPDI:: NC_000015.10:74813516:G:A,NC_000015.10:74813516:G:C
Gene:: LMAN1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.74813517G>A, NC_000015.10:g.74813517G>C, NC_000015.9:g.75105858G>A, NC_000015.9:g.75105858G>C, NG_052659.1:g.5665G>A, NG_052659.1:g.5665G>C

Select item 148808587816.

rs1488085878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:74824035 (GRCh38)
15:75116376 (GRCh37)
Canonical SPDI:: NC_000015.10:74824034:C:T
Gene:: LMAN1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.74824035C>T, NC_000015.9:g.75116376C>T, NG_052659.1:g.16183C>T

Select item 148802813717.

rs1488028137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74816735 (GRCh38)
15:75109076 (GRCh37)
Canonical SPDI:: NC_000015.10:74816734:G:A
Gene:: LMAN1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74816735G>A, NC_000015.9:g.75109076G>A, NG_052659.1:g.8883G>A

Select item 148761537618.

rs1487615376 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:74813339 (GRCh38)
15:75105680 (GRCh37)
Canonical SPDI:: NC_000015.10:74813338:A:C
Gene:: LMAN1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.74813339A>C, NC_000015.9:g.75105680A>C, NG_052659.1:g.5487A>C

Select item 148753324819.

rs1487533248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:74817628 (GRCh38)
15:75109969 (GRCh37)
Canonical SPDI:: NC_000015.10:74817627:C:A
Gene:: LMAN1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.74817628C>A, NC_000015.9:g.75109969C>A, NG_052659.1:g.9776C>A

Select item 148706040620.

rs1487060406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:74820427 (GRCh38)
15:75112768 (GRCh37)
Canonical SPDI:: NC_000015.10:74820426:C:A,NC_000015.10:74820426:C:G
Gene:: LMAN1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.74820427C>A, NC_000015.10:g.74820427C>G, NC_000015.9:g.75112768C>A, NC_000015.9:g.75112768C>G, NG_052659.1:g.12575C>A, NG_052659.1:g.12575C>G

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