SNP Links for Gene (Select 187) - SNP

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Select item 14903626361.

rs1490362636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:57237029 (GRCh38)
11:57004503 (GRCh37)
Canonical SPDI:: NC_000011.10:57237028:C:A
Gene:: APLNR (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57237029C>A, NC_000011.9:g.57004503C>A, NM_005161.6:c.-25G>T, NM_005161.5:c.-25G>T, NM_005161.4:c.-25G>T, NR_027991.2:n.222G>T, NR_027991.1:n.425G>T

Select item 14900052452.

rs1490005245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57233517 (GRCh38)
11:57000991 (GRCh37)
Canonical SPDI:: NC_000011.10:57233516:C:T
Gene:: APLNR (Varview), LOC105369309 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.57233517C>T, NC_000011.9:g.57000991C>T

Select item 14899888883.

rs1489988888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:57235732 (GRCh38)
11:57003206 (GRCh37)
Canonical SPDI:: NC_000011.10:57235731:G:C
Gene:: APLNR (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.57235732G>C, NC_000011.9:g.57003206G>C, NM_005161.6:c.*130C>G, NM_005161.5:c.*130C>G, NM_005161.4:c.*130C>G

Select item 14887381724.

rs1488738172 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:57234785 (GRCh38)
11:57002259 (GRCh37)
Canonical SPDI:: NC_000011.10:57234784:AT:
Gene:: APLNR (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57234785_57234786del, NC_000011.9:g.57002259_57002260del, NM_005161.6:c.*1076_*1077del, NM_005161.5:c.*1076_*1077del, NM_005161.4:c.*1076_*1077del

Select item 14886580105.

rs1488658010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:57233734 (GRCh38)
11:57001208 (GRCh37)
Canonical SPDI:: NC_000011.10:57233733:T:A
Gene:: APLNR (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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_000011.10:g.57233734T>A, NC_000011.9:g.57001208T>A, NM_005161.6:c.*2128A>T, NM_005161.5:c.*2128A>T, NM_005161.4:c.*2128A>T, NR_027991.2:n.1584A>T, NR_027991.1:n.1787A>T

Select item 14873729376.

rs1487372937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:57237658 (GRCh38)
11:57005132 (GRCh37)
Canonical SPDI:: NC_000011.10:57237657:G:C
Gene:: APLNR (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57237658G>C, NC_000011.9:g.57005132G>C

Select item 14869477597.

rs1486947759 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 11:57235733 (GRCh38)
11:57003207 (GRCh37)
Canonical SPDI:: NC_000011.10:57235732:C:
Gene:: APLNR (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57235733del, NC_000011.9:g.57003207del, NM_005161.6:c.*129del, NM_005161.5:c.*129del, NM_005161.4:c.*129del

Select item 14862344028.

rs1486234402 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14856753359.

rs1485675335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:57235735 (GRCh38)
11:57003209 (GRCh37)
Canonical SPDI:: NC_000011.10:57235734:G:A,NC_000011.10:57235734:G:C
Gene:: APLNR (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57235735G>A, NC_000011.10:g.57235735G>C, NC_000011.9:g.57003209G>A, NC_000011.9:g.57003209G>C, NM_005161.6:c.*127C>T, NM_005161.6:c.*127C>G, NM_005161.5:c.*127C>T, NM_005161.5:c.*127C>G, NM_005161.4:c.*127C>T, NM_005161.4:c.*127C>G

Select item 148559762610.

rs1485597626 has merged into rs34577039 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:57239121 (GRCh38)
11:57006595 (GRCh37)
Canonical SPDI:: NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57239109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: APLNR (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAA=0.2821/1413 (1000Genomes)
HGVS:: NC_000011.10:g.57239121_57239127del, NC_000011.10:g.57239122_57239127del, NC_000011.10:g.57239123_57239127del, NC_000011.10:g.57239124_57239127del, NC_000011.10:g.57239125_57239127del, NC_000011.10:g.57239126_57239127del, NC_000011.10:g.57239127del, NC_000011.10:g.57239127dup, NC_000011.10:g.57239126_57239127dup, NC_000011.10:g.57239125_57239127dup, NC_000011.10:g.57239124_57239127dup, NC_000011.10:g.57239123_57239127dup, NC_000011.10:g.57239122_57239127dup, NC_000011.10:g.57239121_57239127dup, NC_000011.10:g.57239120_57239127dup, NC_000011.10:g.57239119_57239127dup, NC_000011.10:g.57239118_57239127dup, NC_000011.10:g.57239117_57239127dup, NC_000011.10:g.57239116_57239127dup, NC_000011.10:g.57239115_57239127dup, NC_000011.10:g.57239114_57239127dup, NC_000011.10:g.57239113_57239127dup, NC_000011.10:g.57239112_57239127dup, NC_000011.10:g.57239111_57239127dup, NC_000011.10:g.57239110_57239127dup, NC_000011.10:g.57239127_57239128insAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.57239127_57239128insAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.57239127_57239128insAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.57239127_57239128insAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.57239127_57239128insAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.57239127_57239128insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.57239127_57239128insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.57239127_57239128insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.57239127_57239128insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.57239127_57239128insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.57239127_57239128insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.57239127_57239128insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.57239127_57239128insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.57239127_57239128insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.57239127_57239128insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.57006595_57006601del, NC_000011.9:g.57006596_57006601del, NC_000011.9:g.57006597_57006601del, NC_000011.9:g.57006598_57006601del, NC_000011.9:g.57006599_57006601del, NC_000011.9:g.57006600_57006601del, NC_000011.9:g.57006601del, NC_000011.9:g.57006601dup, NC_000011.9:g.57006600_57006601dup, NC_000011.9:g.57006599_57006601dup, NC_000011.9:g.57006598_57006601dup, NC_000011.9:g.57006597_57006601dup, NC_000011.9:g.57006596_57006601dup, NC_000011.9:g.57006595_57006601dup, NC_000011.9:g.57006594_57006601dup, NC_000011.9:g.57006593_57006601dup, NC_000011.9:g.57006592_57006601dup, NC_000011.9:g.57006591_57006601dup, NC_000011.9:g.57006590_57006601dup, NC_000011.9:g.57006589_57006601dup, NC_000011.9:g.57006588_57006601dup, NC_000011.9:g.57006587_57006601dup, NC_000011.9:g.57006586_57006601dup, NC_000011.9:g.57006585_57006601dup, NC_000011.9:g.57006584_57006601dup, NC_000011.9:g.57006601_57006602insAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.57006601_57006602insAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.57006601_57006602insAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.57006601_57006602insAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.57006601_57006602insAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.57006601_57006602insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.57006601_57006602insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.57006601_57006602insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.57006601_57006602insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.57006601_57006602insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.57006601_57006602insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.57006601_57006602insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.57006601_57006602insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.57006601_57006602insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.57006601_57006602insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 148537536311.

rs1485375363 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 11:57233094 (GRCh38)
11:57000568 (GRCh37)
Canonical SPDI:: NC_000011.10:57233093:TT:T
Gene:: APLNR (Varview), LOC105369309 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
HGVS:: NC_000011.10:g.57233095del, NC_000011.9:g.57000569del

Select item 148433049712.

rs1484330497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:57235509 (GRCh38)
11:57002983 (GRCh37)
Canonical SPDI:: NC_000011.10:57235508:T:C
Gene:: APLNR (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000671/3 (ALFA)
C=0.000014/2 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000011.10:g.57235509T>C, NC_000011.9:g.57002983T>C, NM_005161.6:c.*353A>G, NM_005161.5:c.*353A>G, NM_005161.4:c.*353A>G

Select item 148394401413.

rs1483944014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57233553 (GRCh38)
11:57001027 (GRCh37)
Canonical SPDI:: NC_000011.10:57233552:C:T
Gene:: APLNR (Varview), LOC105369309 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57233553C>T, NC_000011.9:g.57001027C>T

Select item 148349667814.

rs1483496678 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 11:57233115 (GRCh38)
11:57000589 (GRCh37)
Canonical SPDI:: NC_000011.10:57233114:TT:T
Gene:: APLNR (Varview), LOC105369309 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.57233116del, NC_000011.9:g.57000590del

Select item 148307033315.

rs1483070333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:57237776 (GRCh38)
11:57005250 (GRCh37)
Canonical SPDI:: NC_000011.10:57237775:C:G
Gene:: APLNR (Varview)
Functional Consequence:: 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_000011.10:g.57237776C>G, NC_000011.9:g.57005250C>G

Select item 148228806016.

rs1482288060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:57233847 (GRCh38)
11:57001321 (GRCh37)
Canonical SPDI:: NC_000011.10:57233846:G:C
Gene:: APLNR (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_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_000011.10:g.57233847G>C, NC_000011.9:g.57001321G>C, NM_005161.6:c.*2015C>G, NM_005161.5:c.*2015C>G, NM_005161.4:c.*2015C>G, NR_027991.2:n.1471C>G, NR_027991.1:n.1674C>G

Select item 148197838317.

rs1481978383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:57234520 (GRCh38)
11:57001994 (GRCh37)
Canonical SPDI:: NC_000011.10:57234519:G:C
Gene:: APLNR (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.57234520G>C, NC_000011.9:g.57001994G>C, NM_005161.6:c.*1342C>G, NM_005161.5:c.*1342C>G, NM_005161.4:c.*1342C>G

Select item 148197498218.

rs1481974982 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACA>- [Show Flanks]
Chromosome:: 11:57239126 (GRCh38)
11:57006600 (GRCh37)
Canonical SPDI:: NC_000011.10:57239124:AAACA:A
Gene:: APLNR (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000122/2 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57239126_57239129del, NC_000011.9:g.57006600_57006603del

Select item 148180662319.

rs1481806623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:57239406 (GRCh38)
11:57006880 (GRCh37)
Canonical SPDI:: NC_000011.10:57239405:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000108/2 (ALFA)
C=0.000038/10 (TOPMED)
C=0.00005/7 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.57239406T>C, NC_000011.9:g.57006880T>C

Select item 148018415220.

rs1480184152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:57238527 (GRCh38)
11:57006001 (GRCh37)
Canonical SPDI:: NC_000011.10:57238526:A:C
Gene:: APLNR (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.57238527A>C, NC_000011.9:g.57006001A>C

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