SNP Links for Gene (Select 4037) - SNP

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Select item 14914846631.

rs1491484663 has merged into rs1006199477 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG [Show Flanks]
Chromosome:: 19:33203221 (GRCh38)
19:33694127 (GRCh37)
Canonical SPDI:: NC_000019.10:33203215:GTGTGTGTG:GTGTG,NC_000019.10:33203215:GTGTGTGTG:GTGTGTG
Gene:: LRP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTG=0./0 (ALFA)
HGVS:: NC_000019.10:g.33203217TG[2], NC_000019.10:g.33203217TG[3], NC_000019.9:g.33694123TG[2], NC_000019.9:g.33694123TG[3]

Select item 14914707172.

rs1491470717 [Homo sapiens]

Variant type:: SNV:
Alleles:: AA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14914064633.

rs1491406463 has merged into rs34666491 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG,TGTGTGTG [Show Flanks]
Chromosome:: 19:33203333 (GRCh38)
19:33694239 (GRCh37)
Canonical SPDI:: NC_000019.10:33203324:TGTGTGTGTGTG:TGTGTGTG,NC_000019.10:33203324:TGTGTGTGTGTG:TGTGTGTGTG,NC_000019.10:33203324:TGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000019.10:33203324:TGTGTGTGTGTG:TGTGTGTGTGTGTGTG
Gene:: LRP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTG=0./0 (ALFA)
-=0.00109/2 (Korea1K)
-=0.00167/1 (NorthernSweden)
-=0.01118/56 (1000Genomes)
GT=0.03347/129 (ALSPAC)
GT=0.03479/129 (TWINSUK)
HGVS:: NC_000019.10:g.33203325TG[4], NC_000019.10:g.33203325TG[5], NC_000019.10:g.33203325TG[7], NC_000019.10:g.33203325TG[8], NC_000019.9:g.33694231TG[4], NC_000019.9:g.33694231TG[5], NC_000019.9:g.33694231TG[7], NC_000019.9:g.33694231TG[8]

Select item 14913813714.

rs1491381371 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 19:33207752 (GRCh38)
19:33698658 (GRCh37)
Canonical SPDI:: NC_000019.10:33207750:GCG:G
Gene:: LRP3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000017/1 (GnomAD)
-=0.061489/228 (TWINSUK)
-=0.087182/336 (ALSPAC)
HGVS:: NC_000019.10:g.33207752_33207753del, NC_000019.9:g.33698658_33698659del, NM_002333.4:c.*177_*178del, NM_002333.3:c.*177_*178del, XM_005258945.2:c.*177_*178del, XM_005258945.1:c.*177_*178del

Select item 14912986085.

rs1491298608 [Homo sapiens]

Variant type:: INS
Alleles:: ->GC [Show Flanks]
Chromosome:: 19:33193088 (GRCh38)
19:33683995 (GRCh37)
Canonical SPDI:: NC_000019.10:33193088::GC
Gene:: LRP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: GC=0.000386/52 (GnomAD)
HGVS:: NC_000019.10:g.33193088_33193089insGC, NC_000019.9:g.33683994_33683995insGC

Select item 14911420336.

rs1491142033 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATGCAGATGTGTGTG [Show Flanks]
Chromosome:: 19:33203216 (GRCh38)
19:33694123 (GRCh37)
Canonical SPDI:: NC_000019.10:33203216:TGTGTGTGCATGCAGATGTGTGTG:TGTGTGTGCATGCAGATGTGTGTGCATGCAGATGTGTGTG
Gene:: LRP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTGCATGCAGATGTGTGTGCATGCAGATGTGTGTG=0./0 (ALFA)
TGTGTGTGCATGCAGA=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.33203225_33203240dup, NC_000019.9:g.33694131_33694146dup

Select item 14908222857.

rs1490822285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:33208183 (GRCh38)
19:33699089 (GRCh37)
Canonical SPDI:: NC_000019.10:33208182:C:A
Gene:: LRP3 (Varview), SLC7A10 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000019.10:g.33208183C>A, NC_000019.9:g.33699089C>A, NM_002333.4:c.*608C>A, NM_002333.3:c.*608C>A, XM_005258945.2:c.*608C>A, XM_005258945.1:c.*608C>A

Select item 14906921488.

rs1490692148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:33206660 (GRCh38)
19:33697566 (GRCh37)
Canonical SPDI:: NC_000019.10:33206659:C:T
Gene:: LRP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33206660C>T, NC_000019.9:g.33697566C>T, NM_002333.4:c.1652C>T, NM_002333.3:c.1652C>T, XM_005258945.2:c.1697C>T, XM_005258945.1:c.1697C>T, NP_002324.2:p.Pro551Leu, XP_005259002.1:p.Pro566Leu

Select item 14905440859.

rs1490544085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:33205921 (GRCh38)
19:33696827 (GRCh37)
Canonical SPDI:: NC_000019.10:33205920:G:A
Gene:: LRP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.33205921G>A, NC_000019.9:g.33696827G>A, NM_002333.4:c.1151G>A, NM_002333.3:c.1151G>A, XM_005258945.2:c.1151G>A, XM_005258945.1:c.1151G>A, NP_002324.2:p.Gly384Asp, XP_005259002.1:p.Gly384Asp

Select item 149043925910.

rs1490439259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:33194932 (GRCh38)
19:33685838 (GRCh37)
Canonical SPDI:: NC_000019.10:33194931:C:G
Gene:: LRP3 (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)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.33194932C>G, NC_000019.9:g.33685838C>G

Select item 149034109911.

rs1490341099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:33195415 (GRCh38)
19:33686321 (GRCh37)
Canonical SPDI:: NC_000019.10:33195414:G:A,NC_000019.10:33195414:G:T
Gene:: LRP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.33195415G>A, NC_000019.10:g.33195415G>T, NC_000019.9:g.33686321G>A, NC_000019.9:g.33686321G>T

Select item 149032798512.

rs1490327985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:33207839 (GRCh38)
19:33698745 (GRCh37)
Canonical SPDI:: NC_000019.10:33207838:C:G
Gene:: LRP3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.33207839C>G, NC_000019.9:g.33698745C>G, NM_002333.4:c.*264C>G, NM_002333.3:c.*264C>G, XM_005258945.2:c.*264C>G, XM_005258945.1:c.*264C>G

Select item 149021327913.

rs1490213279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:33206346 (GRCh38)
19:33697252 (GRCh37)
Canonical SPDI:: NC_000019.10:33206345:C:T
Gene:: LRP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000025/6 (GnomAD_exomes)
T=0.00006/1 (TOMMO)
HGVS:: NC_000019.10:g.33206346C>T, NC_000019.9:g.33697252C>T, NM_002333.4:c.1576C>T, NM_002333.3:c.1576C>T, XM_005258945.2:c.1576C>T, XM_005258945.1:c.1576C>T, NP_002324.2:p.Arg526Cys, XP_005259002.1:p.Arg526Cys

Select item 149006702914.

rs1490067029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:33203095 (GRCh38)
19:33694001 (GRCh37)
Canonical SPDI:: NC_000019.10:33203094:A:G
Gene:: LRP3 (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_000019.10:g.33203095A>G, NC_000019.9:g.33694001A>G

Select item 148956776815.

rs1489567768 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:33197230 (GRCh38)
19:33688136 (GRCh37)
Canonical SPDI:: NC_000019.10:33197229:A:T
Gene:: LRP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.33197230A>T, NC_000019.9:g.33688136A>T

Select item 148953919216.

rs1489539192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:33198246 (GRCh38)
19:33689152 (GRCh37)
Canonical SPDI:: NC_000019.10:33198245:G:C
Gene:: LRP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.33198246G>C, NC_000019.9:g.33689152G>C

Select item 148934924117.

rs1489349241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:33207266 (GRCh38)
19:33698172 (GRCh37)
Canonical SPDI:: NC_000019.10:33207265:C:T
Gene:: LRP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.33207266C>T, NC_000019.9:g.33698172C>T, NM_002333.4:c.2004C>T, NM_002333.3:c.2004C>T, XM_005258945.2:c.2049C>T, XM_005258945.1:c.2049C>T

Select item 148933372318.

rs1489333723 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:33204169 (GRCh38)
19:33695075 (GRCh37)
Canonical SPDI:: NC_000019.10:33204168:T:C
Gene:: LRP3 (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_000019.10:g.33204169T>C, NC_000019.9:g.33695075T>C

Select item 148928601619.

rs1489286016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:33194680 (GRCh38)
19:33685586 (GRCh37)
Canonical SPDI:: NC_000019.10:33194679:C:A,NC_000019.10:33194679:C:G
Gene:: LRP3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001806/21 (ALFA)
G=0.000004/1 (TOPMED)
A=0.054957/102 (KOREAN)
C=0.5/20 (SGDP_PRJ)
HGVS:: NC_000019.10:g.33194680C>A, NC_000019.10:g.33194680C>G, NC_000019.9:g.33685586C>A, NC_000019.9:g.33685586C>G, NM_002333.4:c.-106C>A, NM_002333.4:c.-106C>G, XM_005258945.2:c.-106C>A, XM_005258945.2:c.-106C>G

Select item 148923930820.

rs1489239308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:33207208 (GRCh38)
19:33698114 (GRCh37)
Canonical SPDI:: NC_000019.10:33207207:A:C
Gene:: LRP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.33207208A>C, NC_000019.9:g.33698114A>C, NM_002333.4:c.1946A>C, NM_002333.3:c.1946A>C, XM_005258945.2:c.1991A>C, XM_005258945.1:c.1991A>C, NP_002324.2:p.Asp649Ala, XP_005259002.1:p.Asp664Ala

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