SNP Links for Gene (Select 100130933) - SNP

Links from Gene

Items: 1 to 20 of 1271

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Select item 14901689611.

rs1490168961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75647178 (GRCh38)
17:73643258 (GRCh37)
Canonical SPDI:: NC_000017.11:75647177:G:A
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.75647178G>A, NC_000017.10:g.73643258G>A, NG_029617.1:g.25012C>T

Select item 14901379892.

rs1490137989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:75644982 (GRCh38)
17:73641062 (GRCh37)
Canonical SPDI:: NC_000017.11:75644981:C:A,NC_000017.11:75644981:C:T
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.75644982C>A, NC_000017.11:g.75644982C>T, NC_000017.10:g.73641062C>A, NC_000017.10:g.73641062C>T, NG_029617.1:g.27208G>T, NG_029617.1:g.27208G>A

Select item 14901000863.

rs1490100086 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:75644826 (GRCh38)
17:73640907 (GRCh37)
Canonical SPDI:: NC_000017.11:75644826::A
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.75644826_75644827insA, NC_000017.10:g.73640906_73640907insA, NG_029617.1:g.27363_27364insT

Select item 14900652234.

rs1490065223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75645921 (GRCh38)
17:73642001 (GRCh37)
Canonical SPDI:: NC_000017.11:75645920:G:A
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_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_000017.11:g.75645921G>A, NC_000017.10:g.73642001G>A, NG_029617.1:g.26269C>T

Select item 14899351885.

rs1489935188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:75645384 (GRCh38)
17:73641464 (GRCh37)
Canonical SPDI:: NC_000017.11:75645383:T:C
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.75645384T>C, NC_000017.10:g.73641464T>C, NG_029617.1:g.26806A>G

Select item 14895286686.

rs1489528668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75643384 (GRCh38)
17:73639464 (GRCh37)
Canonical SPDI:: NC_000017.11:75643383:C:T
Gene:: RECQL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.75643384C>T, NC_000017.10:g.73639464C>T, NG_029617.1:g.28806G>A, NG_080616.1:g.396C>T

Select item 14894279697.

rs1489427969 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 17:75644424 (GRCh38)
17:73640504 (GRCh37)
Canonical SPDI:: NC_000017.11:75644423:GGGG:GGG,NC_000017.11:75644423:GGGG:GGGGG
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000354/6 (TOMMO)
HGVS:: NC_000017.11:g.75644427del, NC_000017.11:g.75644427dup, NC_000017.10:g.73640507del, NC_000017.10:g.73640507dup, NG_029617.1:g.27766del, NG_029617.1:g.27766dup

Select item 14894094418.

rs1489409441 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:75648347 (GRCh38)
17:73644427 (GRCh37)
Canonical SPDI:: NC_000017.11:75648346:T:C
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.75648347T>C, NC_000017.10:g.73644427T>C, NG_029617.1:g.23843A>G

Select item 14880667219.

rs1488066721 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:75647516 (GRCh38)
17:73643596 (GRCh37)
Canonical SPDI:: NC_000017.11:75647515:T:C
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75647516T>C, NC_000017.10:g.73643596T>C, NG_029617.1:g.24674A>G, NM_001162997.2:c.140T>C, NM_001162997.1:c.140T>C, NP_001156469.1:p.Leu47Ser

Select item 148772984510.

rs1487729845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:75644317 (GRCh38)
17:73640397 (GRCh37)
Canonical SPDI:: NC_000017.11:75644316:A:C,NC_000017.11:75644316:A:G
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.75644317A>C, NC_000017.11:g.75644317A>G, NC_000017.10:g.73640397A>C, NC_000017.10:g.73640397A>G, NG_029617.1:g.27873T>G, NG_029617.1:g.27873T>C

Select item 148679148011.

rs1486791480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:75647552 (GRCh38)
17:73643632 (GRCh37)
Canonical SPDI:: NC_000017.11:75647551:G:A,NC_000017.11:75647551:G:T
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75647552G>A, NC_000017.11:g.75647552G>T, NC_000017.10:g.73643632G>A, NC_000017.10:g.73643632G>T, NG_029617.1:g.24638C>T, NG_029617.1:g.24638C>A, NM_001162997.2:c.176G>A, NM_001162997.2:c.176G>T, NM_001162997.1:c.176G>A, NM_001162997.1:c.176G>T, NP_001156469.1:p.Gly59Asp, NP_001156469.1:p.Gly59Val

Select item 148615856512.

rs1486158565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75643397 (GRCh38)
17:73639477 (GRCh37)
Canonical SPDI:: NC_000017.11:75643396:G:A
Gene:: RECQL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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.75643397G>A, NC_000017.10:g.73639477G>A, NG_029617.1:g.28793C>T, NG_080616.1:g.409G>A

Select item 148441757613.

rs1484417576 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCCTGTCTCCAGCC [Show Flanks]
Chromosome:: 17:75648059 (GRCh38)
17:73644140 (GRCh37)
Canonical SPDI:: NC_000017.11:75648059:AGCCTGCCTGTCTCCAGCC:AGCCTGCCTGTCTCCAGCCTGCCTGTCTCCAGCC
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGCCTGCCTGTCTCCAGCCTGCCTGTCTCCAGCC=0./0 (ALFA)
AGCCTGCCTGTCTCC=0.000007/1 (GnomAD)
AGCCTGCCTGTCTCC=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75648064_75648078dup, NC_000017.10:g.73644144_73644158dup, NG_029617.1:g.24116_24130dup

Select item 148411098014.

rs1484110980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:75647613 (GRCh38)
17:73643693 (GRCh37)
Canonical SPDI:: NC_000017.11:75647612:T:C,NC_000017.11:75647612:T:G
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.75647613T>C, NC_000017.11:g.75647613T>G, NC_000017.10:g.73643693T>C, NC_000017.10:g.73643693T>G, NG_029617.1:g.24577A>G, NG_029617.1:g.24577A>C, NM_001162997.2:c.*48T>C, NM_001162997.2:c.*48T>G, NM_001162997.1:c.*48T>C, NM_001162997.1:c.*48T>G

Select item 148399616115.

rs1483996161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:75644137 (GRCh38)
17:73640217 (GRCh37)
Canonical SPDI:: NC_000017.11:75644136:T:C
Gene:: RECQL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,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.75644137T>C, NC_000017.10:g.73640217T>C, NG_029617.1:g.28053A>G

Select item 148396581016.

rs1483965810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:75645054 (GRCh38)
17:73641134 (GRCh37)
Canonical SPDI:: NC_000017.11:75645053:G:A,NC_000017.11:75645053:G:T
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75645054G>A, NC_000017.11:g.75645054G>T, NC_000017.10:g.73641134G>A, NC_000017.10:g.73641134G>T, NG_029617.1:g.27136C>T, NG_029617.1:g.27136C>A

Select item 148342389617.

rs1483423896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75648086 (GRCh38)
17:73644166 (GRCh37)
Canonical SPDI:: NC_000017.11:75648085:C:T
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_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.75648086C>T, NC_000017.10:g.73644166C>T, NG_029617.1:g.24104G>A

Select item 148274769018.

rs1482747690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:75648211 (GRCh38)
17:73644291 (GRCh37)
Canonical SPDI:: NC_000017.11:75648210:C:G
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75648211C>G, NC_000017.10:g.73644291C>G, NG_029617.1:g.23979G>C

Select item 148074298619.

rs1480742986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75642979 (GRCh38)
17:73639059 (GRCh37)
Canonical SPDI:: NC_000017.11:75642978:G:A
Gene:: RECQL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,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_000017.11:g.75642979G>A, NC_000017.10:g.73639059G>A, NG_029617.1:g.29211C>T

Select item 148052838620.

rs1480528386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:75645239 (GRCh38)
17:73641319 (GRCh37)
Canonical SPDI:: NC_000017.11:75645238:G:A,NC_000017.11:75645238:G:C
Gene:: RECQL5 (Varview), SMIM6 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.75645239G>A, NC_000017.11:g.75645239G>C, NC_000017.10:g.73641319G>A, NC_000017.10:g.73641319G>C, NG_029617.1:g.26951C>T, NG_029617.1:g.26951C>G

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