SNP Links for Gene (Select 114822) - SNP

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Select item 14915602061.

rs1491560206 has merged into rs1019095271 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGCATGTGTCTGTGTGT>-,CTGCATGTGTCTGTGTGTCTGCATGTGTCTGTGTGT [Show Flanks]
Chromosome:: 8:143376920 (GRCh38)
8:144459090 (GRCh37)
Canonical SPDI:: NC_000008.11:143376906:TGTGTCTGTGTGTCTGCATGTGTCTGTGTGT:TGTGTCTGTGTGT,NC_000008.11:143376906:TGTGTCTGTGTGTCTGCATGTGTCTGTGTGT:TGTGTCTGTGTGTCTGCATGTGTCTGTGTGTCTGCATGTGTCTGTGTGT
Gene:: RHPN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTCTGTGTGTCTGCATGTGTCTGTGTGTCTGCATGTGTCTGTGTGT=0./0 (ALFA)
TGTGTCTGTGTGTCTGCA=0.000017/2 (GnomAD)
HGVS:: NC_000008.11:g.143376920_143376937del, NC_000008.11:g.143376920_143376937dup, NC_000008.10:g.144459090_144459107del, NC_000008.10:g.144459090_144459107dup

Select item 14914404292.

rs1491440429 has merged into rs35470357 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC [Show Flanks]
Chromosome:: 8:143384548 (GRCh38)
8:144466718 (GRCh37)
Canonical SPDI:: NC_000008.11:143384538:CCCCCCCCCCC:CCCCCCCCC,NC_000008.11:143384538:CCCCCCCCCCC:CCCCCCCCCC,NC_000008.11:143384538:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000008.11:143384538:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000008.11:143384538:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000008.11:143384538:CCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000008.11:143384538:CCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000008.11:143384538:CCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000008.11:143384538:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000008.11:143384538:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000008.11:143384538:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000008.11:143384538:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC
Gene:: RHPN1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000008.11:g.143384548_143384549del, NC_000008.11:g.143384549del, NC_000008.11:g.143384549dup, NC_000008.11:g.143384548_143384549dup, NC_000008.11:g.143384547_143384549dup, NC_000008.11:g.143384546_143384549dup, NC_000008.11:g.143384545_143384549dup, NC_000008.11:g.143384544_143384549dup, NC_000008.11:g.143384543_143384549dup, NC_000008.11:g.143384542_143384549dup, NC_000008.11:g.143384541_143384549dup, NC_000008.11:g.143384540_143384549dup, NC_000008.10:g.144466718_144466719del, NC_000008.10:g.144466719del, NC_000008.10:g.144466719dup, NC_000008.10:g.144466718_144466719dup, NC_000008.10:g.144466717_144466719dup, NC_000008.10:g.144466716_144466719dup, NC_000008.10:g.144466715_144466719dup, NC_000008.10:g.144466714_144466719dup, NC_000008.10:g.144466713_144466719dup, NC_000008.10:g.144466712_144466719dup, NC_000008.10:g.144466711_144466719dup, NC_000008.10:g.144466710_144466719dup

Select item 14913531983.

rs1491353198 [Homo sapiens]

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

Select item 14912803594.

rs1491280359 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 8:143377060 (GRCh38)
8:144459231 (GRCh37)
Canonical SPDI:: NC_000008.11:143377060:C:CAC
Gene:: RHPN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
CA=0.00088/36 (GnomAD)
HGVS:: NC_000008.11:g.143377061_143377062insAC, NC_000008.10:g.144459231_144459232insAC

Select item 14907880115.

rs1490788011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143379476 (GRCh38)
8:144461646 (GRCh37)
Canonical SPDI:: NC_000008.11:143379475:G:A
Gene:: RHPN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.143379476G>A, NC_000008.10:g.144461646G>A, XM_005250772.4:c.1072G>A, XM_005250772.3:c.1072G>A, XM_005250772.2:c.1072G>A, XM_005250772.1:c.1072G>A, XM_005250773.4:c.1072G>A, XM_005250773.3:c.1072G>A, XM_005250773.2:c.1072G>A, XM_005250773.1:c.1072G>A, NM_052924.3:c.913G>A, NM_052924.2:c.913G>A, XM_017013015.2:c.766G>A, XM_017013015.1:c.766G>A, XM_047421319.1:c.766G>A, XM_047421315.1:c.1021G>A, XM_047421318.1:c.766G>A, XM_047421317.1:c.877G>A, XM_047421316.1:c.913G>A, XM_047421320.1:c.1072G>A, XM_047421322.1:c.913G>A, XM_047421321.1:c.1072G>A, XP_005250829.1:p.Ala358Thr, XP_005250830.1:p.Ala358Thr, NP_443156.2:p.Ala305Thr, XP_016868504.1:p.Ala256Thr, XP_047277275.1:p.Ala256Thr, XP_047277271.1:p.Ala341Thr, XP_047277274.1:p.Ala256Thr, XP_047277273.1:p.Ala293Thr, XP_047277272.1:p.Ala305Thr, XP_047277276.1:p.Ala358Thr, XP_047277278.1:p.Ala305Thr, XP_047277277.1:p.Ala358Thr

Select item 14907158506.

rs1490715850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:143383667 (GRCh38)
8:144465837 (GRCh37)
Canonical SPDI:: NC_000008.11:143383666:G:C
Gene:: RHPN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.143383667G>C, NC_000008.10:g.144465837G>C, XM_005250772.4:c.*1016G>C, XM_005250772.3:c.*1016G>C, XM_005250772.2:c.*1016G>C, XM_005250772.1:c.*1016G>C, XM_005250773.4:c.*1016G>C, XM_005250773.3:c.*1016G>C, XM_005250773.2:c.*1016G>C, XM_005250773.1:c.*1016G>C, NM_052924.3:c.*1016G>C, NM_052924.2:c.*1016G>C, XM_017013015.2:c.*1016G>C, XM_017013015.1:c.*1016G>C, XM_047421319.1:c.*1016G>C, XM_047421315.1:c.*1016G>C, XM_047421318.1:c.*1016G>C, XM_047421317.1:c.*1016G>C, XM_047421316.1:c.*1016G>C

Select item 14906229287.

rs1490622928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:143383886 (GRCh38)
8:144466056 (GRCh37)
Canonical SPDI:: NC_000008.11:143383885:G:T
Gene:: RHPN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.143383886G>T, NC_000008.10:g.144466056G>T, XM_005250772.4:c.*1235G>T, XM_005250772.3:c.*1235G>T, XM_005250772.2:c.*1235G>T, XM_005250772.1:c.*1235G>T, XM_005250773.4:c.*1235G>T, XM_005250773.3:c.*1235G>T, XM_005250773.2:c.*1235G>T, XM_005250773.1:c.*1235G>T, NM_052924.3:c.*1235G>T, NM_052924.2:c.*1235G>T, XM_017013015.2:c.*1235G>T, XM_017013015.1:c.*1235G>T, XM_047421319.1:c.*1235G>T, XM_047421315.1:c.*1235G>T, XM_047421318.1:c.*1235G>T, XM_047421317.1:c.*1235G>T, XM_047421316.1:c.*1235G>T

Select item 14906069168.

rs1490606916 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGGGA [Show Flanks]
Chromosome:: 8:143383194 (GRCh38)
8:144465365 (GRCh37)
Canonical SPDI:: NC_000008.11:143383194::GGGGA
Gene:: RHPN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGA=0./0 (ALFA)
GGGGA=0.000007/1 (GnomAD)
GGGGA=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.143383194_143383195insGGGGA, NC_000008.10:g.144465364_144465365insGGGGA, XM_005250772.4:c.*543_*544insGGGGA, XM_005250772.3:c.*543_*544insGGGGA, XM_005250772.2:c.*543_*544insGGGGA, XM_005250772.1:c.*543_*544insGGGGA, XM_005250773.4:c.*543_*544insGGGGA, XM_005250773.3:c.*543_*544insGGGGA, XM_005250773.2:c.*543_*544insGGGGA, XM_005250773.1:c.*543_*544insGGGGA, NM_052924.3:c.*543_*544insGGGGA, NM_052924.2:c.*543_*544insGGGGA, XM_017013015.2:c.*543_*544insGGGGA, XM_017013015.1:c.*543_*544insGGGGA, XM_047421319.1:c.*543_*544insGGGGA, XM_047421315.1:c.*543_*544insGGGGA, XM_047421318.1:c.*543_*544insGGGGA, XM_047421317.1:c.*543_*544insGGGGA, XM_047421316.1:c.*543_*544insGGGGA

Select item 14905530899.

rs1490553089 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:143382759 (GRCh38)
8:144464929 (GRCh37)
Canonical SPDI:: NC_000008.11:143382758:T:C
Gene:: RHPN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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_000008.11:g.143382759T>C, NC_000008.10:g.144464929T>C, XM_005250772.4:c.*108T>C, XM_005250772.3:c.*108T>C, XM_005250772.2:c.*108T>C, XM_005250772.1:c.*108T>C, XM_005250773.4:c.*108T>C, XM_005250773.3:c.*108T>C, XM_005250773.2:c.*108T>C, XM_005250773.1:c.*108T>C, NM_052924.3:c.*108T>C, NM_052924.2:c.*108T>C, XM_017013015.2:c.*108T>C, XM_017013015.1:c.*108T>C, XM_047421319.1:c.*108T>C, XM_047421315.1:c.*108T>C, XM_047421318.1:c.*108T>C, XM_047421317.1:c.*108T>C, XM_047421316.1:c.*108T>C

Select item 149039774210.

rs1490397742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143377248 (GRCh38)
8:144459418 (GRCh37)
Canonical SPDI:: NC_000008.11:143377247:G:A
Gene:: RHPN1 (Varview)
Functional Consequence:: intron_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_000008.11:g.143377248G>A, NC_000008.10:g.144459418G>A

Select item 149038943711.

rs1490389437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:143378117 (GRCh38)
8:144460287 (GRCh37)
Canonical SPDI:: NC_000008.11:143378116:G:A,NC_000008.11:143378116:G:T
Gene:: RHPN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.143378117G>A, NC_000008.11:g.143378117G>T, NC_000008.10:g.144460287G>A, NC_000008.10:g.144460287G>T

Select item 149029714612.

rs1490297146 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143379111 (GRCh38)
8:144461281 (GRCh37)
Canonical SPDI:: NC_000008.11:143379110:C:T
Gene:: RHPN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000145/3 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000026/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.143379111C>T, NC_000008.10:g.144461281C>T

Select item 149028882513.

rs1490288825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:143367674 (GRCh38)
8:144449844 (GRCh37)
Canonical SPDI:: NC_000008.11:143367673:G:A,NC_000008.11:143367673:G:C
Gene:: RHPN1-AS1 (Varview), RHPN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000008.11:g.143367674G>A, NC_000008.11:g.143367674G>C, NC_000008.10:g.144449844G>A, NC_000008.10:g.144449844G>C, XM_047421319.1:c.-349G>A, XM_047421319.1:c.-349G>C, NR_026785.1:n.962C>T, NR_026785.1:n.962C>G, NM_024035.1:c.*492C>T, NM_024035.1:c.*492C>G

Select item 149010022114.

rs1490100221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:143369725 (GRCh38)
8:144451895 (GRCh37)
Canonical SPDI:: NC_000008.11:143369724:T:C
Gene:: RHPN1-AS1 (Varview), RHPN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.143369725T>C, NC_000008.10:g.144451895T>C, XM_017013015.2:c.-156T>C, XM_017013015.1:c.-156T>C

Select item 149007320815.

rs1490073208 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTCTGCGTGCGTGTGC [Show Flanks]
Chromosome:: 8:143376964 (GRCh38)
8:144459135 (GRCh37)
Canonical SPDI:: NC_000008.11:143376964:CGTGTCTGCGTGCGTGTGC:CGTGTCTGCGTGCGTGTGCGTGTCTGCGTGCGTGTGC
Gene:: RHPN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGTGTCTGCGTGCGTGTGCGTGTCTGCGTGCGTGTGC=0./0 (ALFA)
CGTGTCTGCGTGCGTGTG=0.000004/1 (TOPMED)
CGTGTCTGCGTGCGTGTG=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.143376966_143376983dup, NC_000008.10:g.144459136_144459153dup

Select item 148993749316.

rs1489937493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:143368870 (GRCh38)
8:144451040 (GRCh37)
Canonical SPDI:: NC_000008.11:143368869:G:A,NC_000008.11:143368869:G:C
Gene:: RHPN1-AS1 (Varview), RHPN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.143368870G>A, NC_000008.11:g.143368870G>C, NC_000008.10:g.144451040G>A, NC_000008.10:g.144451040G>C, NM_052924.2:c.-118G>A, NM_052924.2:c.-118G>C

Select item 148985332517.

rs1489853325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143378929 (GRCh38)
8:144461099 (GRCh37)
Canonical SPDI:: NC_000008.11:143378928:G:A
Gene:: RHPN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.143378929G>A, NC_000008.10:g.144461099G>A, XM_005250772.4:c.761G>A, XM_005250772.3:c.761G>A, XM_005250772.2:c.761G>A, XM_005250772.1:c.761G>A, XM_005250773.4:c.761G>A, XM_005250773.3:c.761G>A, XM_005250773.2:c.761G>A, XM_005250773.1:c.761G>A, NM_052924.3:c.602G>A, NM_052924.2:c.602G>A, XM_017013015.2:c.455G>A, XM_017013015.1:c.455G>A, XM_047421319.1:c.455G>A, XM_047421315.1:c.710G>A, XM_047421318.1:c.455G>A, XM_047421317.1:c.566G>A, XM_047421316.1:c.602G>A, XM_047421320.1:c.761G>A, XM_047421322.1:c.602G>A, XM_047421321.1:c.761G>A, XP_005250829.1:p.Gly254Glu, XP_005250830.1:p.Gly254Glu, NP_443156.2:p.Gly201Glu, XP_016868504.1:p.Gly152Glu, XP_047277275.1:p.Gly152Glu, XP_047277271.1:p.Gly237Glu, XP_047277274.1:p.Gly152Glu, XP_047277273.1:p.Gly189Glu, XP_047277272.1:p.Gly201Glu, XP_047277276.1:p.Gly254Glu, XP_047277278.1:p.Gly201Glu, XP_047277277.1:p.Gly254Glu

Select item 148977738818.

rs1489777388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:143382801 (GRCh38)
8:144464971 (GRCh37)
Canonical SPDI:: NC_000008.11:143382800:C:G
Gene:: RHPN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143382801C>G, NC_000008.10:g.144464971C>G, XM_005250772.4:c.*150C>G, XM_005250772.3:c.*150C>G, XM_005250772.2:c.*150C>G, XM_005250772.1:c.*150C>G, XM_005250773.4:c.*150C>G, XM_005250773.3:c.*150C>G, XM_005250773.2:c.*150C>G, XM_005250773.1:c.*150C>G, NM_052924.3:c.*150C>G, NM_052924.2:c.*150C>G, XM_017013015.2:c.*150C>G, XM_017013015.1:c.*150C>G, XM_047421319.1:c.*150C>G, XM_047421315.1:c.*150C>G, XM_047421318.1:c.*150C>G, XM_047421317.1:c.*150C>G, XM_047421316.1:c.*150C>G

Select item 148954140719.

rs1489541407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:143368393 (GRCh38)
8:144450563 (GRCh37)
Canonical SPDI:: NC_000008.11:143368392:A:G
Gene:: RHPN1-AS1 (Varview), RHPN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.143368393A>G, NC_000008.10:g.144450563A>G, NR_026785.1:n.243T>C, NM_024035.1:c.-48T>C

Select item 148953029820.

rs1489530298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:143377883 (GRCh38)
8:144460053 (GRCh37)
Canonical SPDI:: NC_000008.11:143377882:C:G,NC_000008.11:143377882:C:T
Gene:: RHPN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
G=0.001094/2 (Korea1K)
HGVS:: NC_000008.11:g.143377883C>G, NC_000008.11:g.143377883C>T, NC_000008.10:g.144460053C>G, NC_000008.10:g.144460053C>T

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