SNP Links for Gene (Select 9610) - SNP

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:66335877 (GRCh38)
11:66103348 (GRCh37)
Canonical SPDI:: NC_000011.10:66335875:TCT:T
Gene:: RIN1 (Varview)
Functional Consequence:: coding_sequence_variant,splice_acceptor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66335877_66335878del, NC_000011.9:g.66103348_66103349del

Select item 14897022308.

rs1489702230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:66332548 (GRCh38)
11:66100019 (GRCh37)
Canonical SPDI:: NC_000011.10:66332547:G:A,NC_000011.10:66332547:G:C
Gene:: RIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.002183/4 (Korea1K)
HGVS:: NC_000011.10:g.66332548G>A, NC_000011.10:g.66332548G>C, NC_000011.9:g.66100019G>A, NC_000011.9:g.66100019G>C, NM_004292.3:c.2080C>T, NM_004292.3:c.2080C>G, NM_004292.2:c.2080C>T, NM_004292.2:c.2080C>G, NM_001363559.2:c.1996C>T, NM_001363559.2:c.1996C>G, NM_001363559.1:c.1996C>T, NM_001363559.1:c.1996C>G, XM_017018587.2:c.1897C>T, XM_017018587.2:c.1897C>G, XM_017018587.1:c.1897C>T, XM_017018587.1:c.1897C>G, NM_001363560.2:c.1894C>T, NM_001363560.2:c.1894C>G, NM_001363560.1:c.1894C>T, NM_001363560.1:c.1894C>G, XM_047427920.1:c.1837C>T, XM_047427920.1:c.1837C>G, XM_047427919.1:c.1810C>T, XM_047427919.1:c.1810C>G, NP_004283.2:p.Pro694Ser, NP_004283.2:p.Pro694Ala, NP_001350488.1:p.Pro666Ser, NP_001350488.1:p.Pro666Ala, XP_016874076.1:p.Pro633Ser, XP_016874076.1:p.Pro633Ala, NP_001350489.1:p.Pro632Ser, NP_001350489.1:p.Pro632Ala, XP_047283876.1:p.Pro613Ser, XP_047283876.1:p.Pro613Ala, XP_047283875.1:p.Pro604Ser, XP_047283875.1:p.Pro604Ala

Select item 14893834689.

rs1489383468 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66333193 (GRCh38)
11:66100664 (GRCh37)
Canonical SPDI:: NC_000011.10:66333192:A:G
Gene:: RIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.66333193A>G, NC_000011.9:g.66100664A>G

Select item 148930303310.

rs1489303033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66338670 (GRCh38)
11:66106141 (GRCh37)
Canonical SPDI:: NC_000011.10:66338669:G:A
Gene:: RIN1 (Varview), BRMS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66338670G>A, NC_000011.9:g.66106141G>A

Select item 148909924211.

rs1489099242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66332603 (GRCh38)
11:66100074 (GRCh37)
Canonical SPDI:: NC_000011.10:66332602:C:T
Gene:: RIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66332603C>T, NC_000011.9:g.66100074C>T, NM_004292.3:c.2025G>A, NM_004292.2:c.2025G>A, NM_001363559.2:c.1941G>A, NM_001363559.1:c.1941G>A, XM_017018587.2:c.1842G>A, XM_017018587.1:c.1842G>A, NM_001363560.2:c.1839G>A, NM_001363560.1:c.1839G>A, XM_047427920.1:c.1782G>A, XM_047427919.1:c.1755G>A

Select item 148866725012.

rs1488667250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66331935 (GRCh38)
11:66099406 (GRCh37)
Canonical SPDI:: NC_000011.10:66331934:A:G
Gene:: RIN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66331935A>G, NC_000011.9:g.66099406A>G, NM_004292.3:c.*341T>C, NM_001363559.2:c.*341T>C, XM_017018587.2:c.*341T>C, NM_001363560.2:c.*341T>C, XM_047427920.1:c.*341T>C, XM_047427919.1:c.*341T>C

Select item 148803411813.

rs1488034118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66337701 (GRCh38)
11:66105172 (GRCh37)
Canonical SPDI:: NC_000011.10:66337700:G:A
Gene:: RIN1 (Varview), BRMS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,3_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.66337701G>A, NC_000011.9:g.66105172G>A, NM_015399.4:c.*181C>T, NM_015399.3:c.*181C>T, XM_024448425.2:c.882C>T, XM_024448425.1:c.882C>T, NM_001024957.2:c.840C>T, NM_001024957.1:c.840C>T, XM_024448426.2:c.800C>T, XM_024448426.1:c.800C>T, XP_024304194.1:p.Pro267Leu

Select item 148777662714.

rs1487776627 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTGGGCCCGGGCCAGGC>- [Show Flanks]
Chromosome:: 11:66334084 (GRCh38)
11:66101555 (GRCh37)
Canonical SPDI:: NC_000011.10:66334080:GGCCCTGGGCCCGGGCCAGGC:GGC
Gene:: RIN1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GGC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66334084_66334101del, NC_000011.9:g.66101555_66101572del, NM_004292.3:c.1412_1429del, NM_004292.2:c.1412_1429del, NM_001363559.2:c.1328_1345del, NM_001363559.1:c.1328_1345del, XM_047427920.1:c.1169_1186del, NP_004283.2:p.Leu471_Gly476del, NP_001350488.1:p.Leu443_Gly448del, XP_047283876.1:p.Leu390_Gly395del

Select item 148774977815.

rs1487749778 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 11:66335128 (GRCh38)
11:66102599 (GRCh37)
Canonical SPDI:: NC_000011.10:66335127:A:C,NC_000011.10:66335127:A:T
Gene:: RIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000015/4 (TOPMED)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.66335128A>C, NC_000011.10:g.66335128A>T, NC_000011.9:g.66102599A>C, NC_000011.9:g.66102599A>T, NM_004292.3:c.671T>G, NM_004292.3:c.671T>A, NM_004292.2:c.671T>G, NM_004292.2:c.671T>A, NM_001363559.2:c.587T>G, NM_001363559.2:c.587T>A, NM_001363559.1:c.587T>G, NM_001363559.1:c.587T>A, XM_017018587.2:c.671T>G, XM_017018587.2:c.671T>A, XM_017018587.1:c.671T>G, XM_017018587.1:c.671T>A, NM_001363560.2:c.671T>G, NM_001363560.2:c.671T>A, NM_001363560.1:c.671T>G, NM_001363560.1:c.671T>A, XM_047427920.1:c.428T>G, XM_047427920.1:c.428T>A, XM_047427919.1:c.587T>G, XM_047427919.1:c.587T>A, NP_004283.2:p.Phe224Cys, NP_004283.2:p.Phe224Tyr, NP_001350488.1:p.Phe196Cys, NP_001350488.1:p.Phe196Tyr, XP_016874076.1:p.Phe224Cys, XP_016874076.1:p.Phe224Tyr, NP_001350489.1:p.Phe224Cys, NP_001350489.1:p.Phe224Tyr, XP_047283876.1:p.Phe143Cys, XP_047283876.1:p.Phe143Tyr, XP_047283875.1:p.Phe196Cys, XP_047283875.1:p.Phe196Tyr

Select item 148772593116.

rs1487725931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:66336038 (GRCh38)
11:66103509 (GRCh37)
Canonical SPDI:: NC_000011.10:66336037:C:A
Gene:: RIN1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66336038C>A, NC_000011.9:g.66103509C>A, NM_004292.3:c.207G>T, NM_004292.2:c.207G>T, NM_001363559.2:c.123G>T, NM_001363559.1:c.123G>T, XM_017018587.2:c.207G>T, XM_017018587.1:c.207G>T, NM_001363560.2:c.207G>T, NM_001363560.1:c.207G>T, XM_047427920.1:c.-37G>T, XM_047427919.1:c.123G>T, NP_004283.2:p.Trp69Cys, NP_001350488.1:p.Trp41Cys, XP_016874076.1:p.Trp69Cys, NP_001350489.1:p.Trp69Cys, XP_047283875.1:p.Trp41Cys

Select item 148767315917.

rs1487673159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:66338296 (GRCh38)
11:66105767 (GRCh37)
Canonical SPDI:: NC_000011.10:66338295:A:C
Gene:: RIN1 (Varview), BRMS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000013/3 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.66338296A>C, NC_000011.9:g.66105767A>C

Select item 148691463718.

rs1486914637 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:66332485 (GRCh38)
11:66099956 (GRCh37)
Canonical SPDI:: NC_000011.10:66332482:CTCT:CT
Gene:: RIN1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66332483CT[1], NC_000011.9:g.66099954CT[1], NM_004292.3:c.2144_2145del, NM_004292.2:c.2144_2145del, NM_001363559.2:c.2060_2061del, NM_001363559.1:c.2060_2061del, XM_017018587.2:c.1961_1962del, XM_017018587.1:c.1961_1962del, NM_001363560.2:c.1958_1959del, NM_001363560.1:c.1958_1959del, XM_047427920.1:c.1901_1902del, XM_047427919.1:c.1874_1875del, NP_004283.2:p.Glu715fs, NP_001350488.1:p.Glu687fs, XP_016874076.1:p.Glu654fs, NP_001350489.1:p.Glu653fs, XP_047283876.1:p.Glu634fs, XP_047283875.1:p.Glu625fs

Select item 148639778219.

rs1486397782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:66337579 (GRCh38)
11:66105050 (GRCh37)
Canonical SPDI:: NC_000011.10:66337578:T:G
Gene:: RIN1 (Varview), BRMS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.66337579T>G, NC_000011.9:g.66105050T>G, NM_015399.4:c.*303A>C, NM_015399.3:c.*303A>C, XM_024448425.2:c.*89A>C, XM_024448425.1:c.*89A>C, NM_001024957.2:c.*89A>C, NM_001024957.1:c.*89A>C, XM_024448426.2:c.*55A>C, XM_024448426.1:c.*55A>C

Select item 148603594820.

rs1486035948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66337772 (GRCh38)
11:66105243 (GRCh37)
Canonical SPDI:: NC_000011.10:66337771:C:T
Gene:: RIN1 (Varview), BRMS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,3_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66337772C>T, NC_000011.9:g.66105243C>T, NM_015399.4:c.*110G>A, NM_015399.3:c.*110G>A, XM_024448425.2:c.811G>A, XM_024448425.1:c.811G>A, NM_001024957.2:c.769G>A, NM_001024957.1:c.769G>A, XM_024448426.2:c.729G>A, XM_024448426.1:c.729G>A, XP_024304193.1:p.Ala271Thr, NP_001020128.1:p.Ala257Thr

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