SNP Links for Gene (Select 343069) - SNP

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Items: 1 to 20 of 1413

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Select item 14909063641.

rs1490906364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12849624 (GRCh38)
1:12909477 (GRCh37)
Canonical SPDI:: NC_000001.11:12849623:C:T
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000001.11:g.12849624C>T, NC_000001.10:g.12909477C>T, NW_012132914.1:g.31137C>T

Select item 14908503472.

rs1490850347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:12850370 (GRCh38)
1:12910223 (GRCh37)
Canonical SPDI:: NC_000001.11:12850369:T:A,NC_000001.11:12850369:T:G
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.12850370T>A, NC_000001.11:g.12850370T>G, NC_000001.10:g.12910223T>A, NC_000001.10:g.12910223T>G, NW_012132914.1:g.31883T>A, NW_012132914.1:g.31883T>G

Select item 14906293123.

rs1490629312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12846944 (GRCh38)
1:12906797 (GRCh37)
Canonical SPDI:: NC_000001.11:12846943:C:T
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000001.11:g.12846944C>T, NC_000001.10:g.12906797C>T, NW_012132914.1:g.28457C>T

Select item 14900312184.

rs1490031218 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 1:12850713 (GRCh38)
1:12910566 (GRCh37)
Canonical SPDI:: NC_000001.11:12850708:CCTCCTC:CCTC
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.12850710CTC[1], NC_000001.10:g.12910563CTC[1], NW_012132914.1:g.32223CTC[1]

Select item 14895976085.

rs1489597608 [Homo sapiens]

Variant type:: INS
Alleles:: ->CT [Show Flanks]
Chromosome:: 1:12849402 (GRCh38)
1:12909256 (GRCh37)
Canonical SPDI:: NC_000001.11:12849402::CT
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.12849402_12849403insCT, NC_000001.10:g.12909255_12909256insCT, NW_012132914.1:g.30915_30916insCT

Select item 14894545956.

rs1489454595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:12849575 (GRCh38)
1:12909428 (GRCh37)
Canonical SPDI:: NC_000001.11:12849574:G:A
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.12849575G>A, NC_000001.10:g.12909428G>A, NW_012132914.1:g.31088G>A

Select item 14883759797.

rs1488375979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:12847753 (GRCh38)
1:12907606 (GRCh37)
Canonical SPDI:: NC_000001.11:12847752:G:T
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.12847753G>T, NC_000001.10:g.12907606G>T, NW_012132914.1:g.29266G>T, NM_001013631.3:c.537C>A, NM_001013631.2:c.537C>A, NM_001013631.1:c.537C>A, NP_001013653.1:p.Asp179Glu

Select item 14881315538.

rs1488131553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:12848559 (GRCh38)
1:12908412 (GRCh37)
Canonical SPDI:: NC_000001.11:12848558:A:C,NC_000001.11:12848558:A:T
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.12848559A>C, NC_000001.11:g.12848559A>T, NC_000001.10:g.12908412A>C, NC_000001.10:g.12908412A>T, NW_012132914.1:g.30072A>C, NW_012132914.1:g.30072A>T

Select item 14877340149.

rs1487734014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:12849571 (GRCh38)
1:12909424 (GRCh37)
Canonical SPDI:: NC_000001.11:12849570:C:A,NC_000001.11:12849570:C:T
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000001.11:g.12849571C>A, NC_000001.11:g.12849571C>T, NC_000001.10:g.12909424C>A, NC_000001.10:g.12909424C>T, NW_012132914.1:g.31084C>A, NW_012132914.1:g.31084C>T

Select item 148762082810.

rs1487620828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12850282 (GRCh38)
1:12910135 (GRCh37)
Canonical SPDI:: NC_000001.11:12850281:C:T
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.12850282C>T, NC_000001.10:g.12910135C>T, NW_012132914.1:g.31795C>T

Select item 148720415111.

rs1487204151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:12847404 (GRCh38)
1:12907257 (GRCh37)
Canonical SPDI:: NC_000001.11:12847403:G:A,NC_000001.11:12847403:G:T
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.12847404G>A, NC_000001.11:g.12847404G>T, NC_000001.10:g.12907257G>A, NC_000001.10:g.12907257G>T, NW_012132914.1:g.28917G>A, NW_012132914.1:g.28917G>T, NM_001013631.3:c.*4C>T, NM_001013631.3:c.*4C>A, NM_001013631.2:c.*4C>T, NM_001013631.2:c.*4C>A

Select item 148587126012.

rs1485871260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:12847277 (GRCh38)
1:12907130 (GRCh37)
Canonical SPDI:: NC_000001.11:12847276:G:A
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.12847277G>A, NC_000001.10:g.12907130G>A, NW_012132914.1:g.28790G>A

Select item 148509765313.

rs1485097653 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:12848105 (GRCh38)
1:12907958 (GRCh37)
Canonical SPDI:: NC_000001.11:12848104:TTTTT:TTTT
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.12848109del, NC_000001.10:g.12907962del, NW_012132914.1:g.29622del, NM_001013631.3:c.185del, NM_001013631.2:c.185del, NM_001013631.1:c.185del, NP_001013653.1:p.Asn62fs

Select item 148496287014.

rs1484962870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12850108 (GRCh38)
1:12909961 (GRCh37)
Canonical SPDI:: NC_000001.11:12850107:C:T
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.12850108C>T, NC_000001.10:g.12909961C>T, NW_012132914.1:g.31621C>T

Select item 148491130715.

rs1484911307 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:12848868 (GRCh38)
1:12908721 (GRCh37)
Canonical SPDI:: NC_000001.11:12848867:A:C
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000036/5 (GnomAD)
C=0.000057/15 (TOPMED)
HGVS:: NC_000001.11:g.12848868A>C, NC_000001.10:g.12908721A>C, NW_012132914.1:g.30381A>C

Select item 148383930416.

rs1483839304 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:12848624 (GRCh38)
1:12908477 (GRCh37)
Canonical SPDI:: NC_000001.11:12848622:TCT:T
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.12848624_12848625del, NC_000001.10:g.12908477_12908478del, NW_012132914.1:g.30137_30138del

Select item 148357519817.

rs1483575198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:12848292 (GRCh38)
1:12908145 (GRCh37)
Canonical SPDI:: NC_000001.11:12848291:T:C
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.12848292T>C, NC_000001.10:g.12908145T>C, NW_012132914.1:g.29805T>C, NM_001013631.3:c.-3A>G, NM_001013631.2:c.-3A>G, NM_001013631.1:c.-3A>G

Select item 148350639718.

rs1483506397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:12848917 (GRCh38)
1:12908770 (GRCh37)
Canonical SPDI:: NC_000001.11:12848916:G:A,NC_000001.11:12848916:G:C
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000036/1 (TOMMO)
HGVS:: NC_000001.11:g.12848917G>A, NC_000001.11:g.12848917G>C, NC_000001.10:g.12908770G>A, NC_000001.10:g.12908770G>C, NW_012132914.1:g.30430G>A, NW_012132914.1:g.30430G>C

Select item 148340610319.

rs1483406103 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:12848713 (GRCh38)
1:12908567 (GRCh37)
Canonical SPDI:: NC_000001.11:12848713:G:GG
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0.0025/11 (Estonian)
HGVS:: NC_000001.11:g.12848714dup, NC_000001.10:g.12908567dup, NW_012132914.1:g.30227dup, NM_001013631.3:c.-215dup, NM_001013631.2:c.-215dup, NM_001013631.1:c.-215dup

Select item 148332969620.

rs1483329696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:12849441 (GRCh38)
1:12909294 (GRCh37)
Canonical SPDI:: NC_000001.11:12849440:G:T
Gene:: HNRNPCL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000001.11:g.12849441G>T, NC_000001.10:g.12909294G>T, NW_012132914.1:g.30954G>T

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