SNP Links for Gene (Select 146722) - SNP

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Select item 14913566201.

rs1491356620 has merged into rs373733638 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:74708154 (GRCh38)
17:72704293 (GRCh37)
Canonical SPDI:: NC_000017.11:74708147:AAAAAAAAAAAAAA:AAAAAA,NC_000017.11:74708147:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:74708147:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:74708147:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:74708147:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:74708147:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:74708147:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:74708147:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:74708147:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:74708147:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:74708147:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000017.11:g.74708154_74708161del, NC_000017.11:g.74708157_74708161del, NC_000017.11:g.74708159_74708161del, NC_000017.11:g.74708160_74708161del, NC_000017.11:g.74708161del, NC_000017.11:g.74708161dup, NC_000017.11:g.74708160_74708161dup, NC_000017.11:g.74708156_74708161dup, NC_000017.11:g.74708155_74708161dup, NC_000017.11:g.74708161_74708162insAAAAAAAAAAAAAAAA, NC_000017.11:g.74708161_74708162insAAAAAAAAAAAAAAAAA, NC_000017.10:g.72704293_72704300del, NC_000017.10:g.72704296_72704300del, NC_000017.10:g.72704298_72704300del, NC_000017.10:g.72704299_72704300del, NC_000017.10:g.72704300del, NC_000017.10:g.72704300dup, NC_000017.10:g.72704299_72704300dup, NC_000017.10:g.72704295_72704300dup, NC_000017.10:g.72704294_72704300dup, NC_000017.10:g.72704300_72704301insAAAAAAAAAAAAAAAA, NC_000017.10:g.72704300_72704301insAAAAAAAAAAAAAAAAA

Select item 14913493832.

rs1491349383 has merged into rs1263589772 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: 17:74710706 (GRCh38)
17:72706845 (GRCh37)
Canonical SPDI:: NC_000017.11:74710705:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:74710705:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:74710705:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:74710705:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:74710705:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0614/35 (NorthernSweden)
HGVS:: NC_000017.11:g.74710720del, NC_000017.11:g.74710720dup, NC_000017.11:g.74710719_74710720dup, NC_000017.11:g.74710717_74710720dup, NC_000017.11:g.74710715_74710720dup, NC_000017.10:g.72706859del, NC_000017.10:g.72706859dup, NC_000017.10:g.72706858_72706859dup, NC_000017.10:g.72706856_72706859dup, NC_000017.10:g.72706854_72706859dup

Select item 14909364623.

rs1490936462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74696274 (GRCh38)
17:72692413 (GRCh37)
Canonical SPDI:: NC_000017.11:74696273:C:T
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000017.11:g.74696274C>T, NC_000017.10:g.72692413C>T

Select item 14908654014.

rs1490865401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74697199 (GRCh38)
17:72693338 (GRCh37)
Canonical SPDI:: NC_000017.11:74697198:C:T
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000017.11:g.74697199C>T, NC_000017.10:g.72693338C>T

Select item 14906742705.

rs1490674270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:74711187 (GRCh38)
17:72707326 (GRCh37)
Canonical SPDI:: NC_000017.11:74711186:G:A
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.74711187G>A, NC_000017.10:g.72707326G>A

Select item 14905808566.

rs1490580856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:74710255 (GRCh38)
17:72706394 (GRCh37)
Canonical SPDI:: NC_000017.11:74710254:G:A
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.74710255G>A, NC_000017.10:g.72706394G>A

Select item 14905557027.

rs1490555702 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:74708260 (GRCh38)
17:72704399 (GRCh37)
Canonical SPDI:: NC_000017.11:74708259:A:G
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.74708260A>G, NC_000017.10:g.72704399A>G

Select item 14903755328.

rs1490375532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:74696802 (GRCh38)
17:72692941 (GRCh37)
Canonical SPDI:: NC_000017.11:74696801:C:A
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000017.11:g.74696802C>A, NC_000017.10:g.72692941C>A

Select item 14903205069.

rs1490320506 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:74703083 (GRCh38)
17:72699222 (GRCh37)
Canonical SPDI:: NC_000017.11:74703082:T:C
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,genic_upstream_transcript_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_000017.11:g.74703083T>C, NC_000017.10:g.72699222T>C, NM_139018.5:c.398A>G, NM_139018.4:c.398A>G, NM_139018.3:c.398A>G, XM_017024212.3:c.455A>G, XM_017024212.2:c.455A>G, XM_017024212.1:c.455A>G, NM_001289086.2:c.452A>G, NM_001289086.1:c.452A>G, NM_001289085.2:c.407A>G, NM_001289085.1:c.407A>G, NM_001289082.2:c.407A>G, NM_001289082.1:c.407A>G, NM_001289083.2:c.398A>G, NM_001289083.1:c.398A>G, NM_001289084.2:c.443A>G, NM_001289084.1:c.443A>G, NR_110298.2:n.629A>G, NR_110298.1:n.706A>G, NM_001289087.2:c.398A>G, NM_001289087.1:c.398A>G, XM_047435407.1:c.464A>G, XM_047435409.1:c.464A>G, XM_047435410.1:c.452A>G, XM_047435412.1:c.407A>G, XM_047435415.1:c.407A>G, XM_047435416.1:c.464A>G, XM_047435408.1:c.455A>G, XM_047435411.1:c.443A>G, XM_047435417.1:c.407A>G, XM_047435413.1:c.398A>G, XM_047435419.1:c.464A>G, XM_047435418.1:c.464A>G, XM_047435420.1:c.464A>G, XM_047435422.1:c.407A>G, XM_047435421.1:c.452A>G, NP_620587.2:p.Glu133Gly, XP_016879701.1:p.Glu152Gly, NP_001276015.1:p.Glu151Gly, NP_001276014.1:p.Glu136Gly, NP_001276011.1:p.Glu136Gly, NP_001276012.1:p.Glu133Gly, NP_001276013.1:p.Glu148Gly, NP_001276016.1:p.Glu133Gly, XP_047291363.1:p.Glu155Gly, XP_047291365.1:p.Glu155Gly, XP_047291366.1:p.Glu151Gly, XP_047291368.1:p.Glu136Gly, XP_047291371.1:p.Glu136Gly, XP_047291372.1:p.Glu155Gly, XP_047291364.1:p.Glu152Gly, XP_047291367.1:p.Glu148Gly, XP_047291373.1:p.Glu136Gly, XP_047291369.1:p.Glu133Gly, XP_047291375.1:p.Glu155Gly, XP_047291374.1:p.Glu155Gly, XP_047291376.1:p.Glu155Gly, XP_047291378.1:p.Glu136Gly, XP_047291377.1:p.Glu151Gly

Select item 149024559110.

rs1490245591 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:74704689 (GRCh38)
17:72700829 (GRCh37)
Canonical SPDI:: NC_000017.11:74704689:G:GG
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.74704690dup, NC_000017.10:g.72700829dup, NM_139018.5:c.170dup, NM_139018.4:c.170dup, NM_139018.3:c.170dup, XM_017024212.3:c.170dup, XM_017024212.2:c.170dup, XM_017024212.1:c.170dup, NM_001289086.2:c.179dup, NM_001289086.1:c.179dup, NM_001289085.2:c.179dup, NM_001289085.1:c.179dup, NM_001289082.2:c.179dup, NM_001289082.1:c.179dup, NM_001289083.2:c.170dup, NM_001289083.1:c.170dup, NM_001289084.2:c.170dup, NM_001289084.1:c.170dup, NR_110298.2:n.401dup, NR_110298.1:n.478dup, NM_001289087.2:c.170dup, NM_001289087.1:c.170dup, XM_047435407.1:c.179dup, XM_047435409.1:c.179dup, XM_047435410.1:c.179dup, XM_047435412.1:c.179dup, XM_047435415.1:c.179dup, XM_047435416.1:c.179dup, XM_047435408.1:c.170dup, XM_047435411.1:c.170dup, XM_047435417.1:c.179dup, XM_047435413.1:c.170dup, XM_047435419.1:c.179dup, XM_047435418.1:c.179dup, XM_047435420.1:c.179dup, XM_047435422.1:c.179dup, XM_047435421.1:c.179dup, NP_620587.2:p.Ile58fs, XP_016879701.1:p.Ile58fs, NP_001276015.1:p.Ile61fs, NP_001276014.1:p.Ile61fs, NP_001276011.1:p.Ile61fs, NP_001276012.1:p.Ile58fs, NP_001276013.1:p.Ile58fs, NP_001276016.1:p.Ile58fs, XP_047291363.1:p.Ile61fs, XP_047291365.1:p.Ile61fs, XP_047291366.1:p.Ile61fs, XP_047291368.1:p.Ile61fs, XP_047291371.1:p.Ile61fs, XP_047291372.1:p.Ile61fs, XP_047291364.1:p.Ile58fs, XP_047291367.1:p.Ile58fs, XP_047291373.1:p.Ile61fs, XP_047291369.1:p.Ile58fs, XP_047291375.1:p.Ile61fs, XP_047291374.1:p.Ile61fs, XP_047291376.1:p.Ile61fs, XP_047291378.1:p.Ile61fs, XP_047291377.1:p.Ile61fs

Select item 148996678711.

rs1489966787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:74695402 (GRCh38)
17:72691541 (GRCh37)
Canonical SPDI:: NC_000017.11:74695401:C:G,NC_000017.11:74695401:C:T
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.74695402C>G, NC_000017.11:g.74695402C>T, NC_000017.10:g.72691541C>G, NC_000017.10:g.72691541C>T

Select item 148990126412.

rs1489901264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74696413 (GRCh38)
17:72692552 (GRCh37)
Canonical SPDI:: NC_000017.11:74696412:C:T
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.74696413C>T, NC_000017.10:g.72692552C>T

Select item 148986626813.

rs1489866268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:74709739 (GRCh38)
17:72705878 (GRCh37)
Canonical SPDI:: NC_000017.11:74709738:A:G
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.74709739A>G, NC_000017.10:g.72705878A>G

Select item 148962814614.

rs1489628146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:74709720 (GRCh38)
17:72705859 (GRCh37)
Canonical SPDI:: NC_000017.11:74709719:T:C
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000017.11:g.74709720T>C, NC_000017.10:g.72705859T>C

Select item 148948472715.

rs1489484727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:74698201 (GRCh38)
17:72694340 (GRCh37)
Canonical SPDI:: NC_000017.11:74698200:A:C
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.74698201A>C, NC_000017.10:g.72694340A>C

Select item 148943835516.

rs1489438355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:74702470 (GRCh38)
17:72698609 (GRCh37)
Canonical SPDI:: NC_000017.11:74702469:A:C
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.74702470A>C, NC_000017.10:g.72698609A>C

Select item 148920172417.

rs1489201724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:74706369 (GRCh38)
17:72702508 (GRCh37)
Canonical SPDI:: NC_000017.11:74706368:T:C
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000023/3 (GnomAD)
HGVS:: NC_000017.11:g.74706369T>C, NC_000017.10:g.72702508T>C

Select item 148915562218.

rs1489155622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:74695016 (GRCh38)
17:72691155 (GRCh37)
Canonical SPDI:: NC_000017.11:74695015:G:T
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.74695016G>T, NC_000017.10:g.72691155G>T, NM_139018.5:c.*80C>A, NM_139018.4:c.*80C>A, NM_139018.3:c.*80C>A, XM_017024212.3:c.*80C>A, XM_017024212.2:c.*80C>A, XM_017024212.1:c.*80C>A, NM_001289086.2:c.*264C>A, NM_001289086.1:c.*264C>A, NM_001289085.2:c.*80C>A, NM_001289085.1:c.*80C>A, NM_001289082.2:c.*264C>A, NM_001289082.1:c.*264C>A, NM_001289083.2:c.*264C>A, NM_001289083.1:c.*264C>A, NM_001289084.2:c.*80C>A, NM_001289084.1:c.*80C>A, NR_110298.2:n.1048C>A, NR_110298.1:n.1125C>A, NM_001289087.2:c.*264C>A, NM_001289087.1:c.*264C>A, XM_047435407.1:c.*80C>A, XM_047435409.1:c.*80C>A, XM_047435410.1:c.*80C>A, XM_047435412.1:c.*80C>A, XM_047435415.1:c.*80C>A, XM_047435416.1:c.*80C>A, XM_047435408.1:c.*80C>A, XM_047435411.1:c.*80C>A, XM_047435417.1:c.*80C>A, XM_047435413.1:c.*80C>A

Select item 148912459019.

rs1489124590 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 17:74693941 (GRCh38)
17:72690080 (GRCh37)
Canonical SPDI:: NC_000017.11:74693940:G:
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.74693941del, NC_000017.10:g.72690080del

Select item 148909846520.

rs1489098465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:74708717 (GRCh38)
17:72704856 (GRCh37)
Canonical SPDI:: NC_000017.11:74708716:C:G,NC_000017.11:74708716:C:T
Gene:: CD300LF (Varview), RAB37 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.74708717C>G, NC_000017.11:g.74708717C>T, NC_000017.10:g.72704856C>G, NC_000017.10:g.72704856C>T

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