SNP Links for Gene (Select 6605) - SNP

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Select item 14910903721.

rs1491090372 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:40645866 (GRCh38)
17:38802118 (GRCh37)
Canonical SPDI:: NC_000017.11:40645865:GA:
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40645866_40645867del, NC_000017.10:g.38802118_38802119del, NG_032163.1:g.6985_6986del

Select item 14910044852.

rs1491004485 has merged into rs398041688 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTGGGGAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:40637038 (GRCh38)
17:38793290 (GRCh37)
Canonical SPDI:: NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40637029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTGGGGAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.40637038_40637048del, NC_000017.11:g.40637039_40637048del, NC_000017.11:g.40637040_40637048del, NC_000017.11:g.40637041_40637048del, NC_000017.11:g.40637042_40637048del, NC_000017.11:g.40637043_40637048del, NC_000017.11:g.40637045_40637048del, NC_000017.11:g.40637046_40637048del, NC_000017.11:g.40637047_40637048del, NC_000017.11:g.40637048del, NC_000017.11:g.40637048dup, NC_000017.11:g.40637047_40637048dup, NC_000017.11:g.40637046_40637048dup, NC_000017.11:g.40637045_40637048dup, NC_000017.11:g.40637044_40637048dup, NC_000017.11:g.40637042_40637048dup, NC_000017.11:g.40637040_40637048dup, NC_000017.11:g.40637030_40637048A[27]TTTGGGGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.38793290_38793300del, NC_000017.10:g.38793291_38793300del, NC_000017.10:g.38793292_38793300del, NC_000017.10:g.38793293_38793300del, NC_000017.10:g.38793294_38793300del, NC_000017.10:g.38793295_38793300del, NC_000017.10:g.38793297_38793300del, NC_000017.10:g.38793298_38793300del, NC_000017.10:g.38793299_38793300del, NC_000017.10:g.38793300del, NC_000017.10:g.38793300dup, NC_000017.10:g.38793299_38793300dup, NC_000017.10:g.38793298_38793300dup, NC_000017.10:g.38793297_38793300dup, NC_000017.10:g.38793296_38793300dup, NC_000017.10:g.38793294_38793300dup, NC_000017.10:g.38793292_38793300dup, NC_000017.10:g.38793282_38793300A[27]TTTGGGGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_032163.1:g.15812_15822del, NG_032163.1:g.15813_15822del, NG_032163.1:g.15814_15822del, NG_032163.1:g.15815_15822del, NG_032163.1:g.15816_15822del, NG_032163.1:g.15817_15822del, NG_032163.1:g.15819_15822del, NG_032163.1:g.15820_15822del, NG_032163.1:g.15821_15822del, NG_032163.1:g.15822del, NG_032163.1:g.15822dup, NG_032163.1:g.15821_15822dup, NG_032163.1:g.15820_15822dup, NG_032163.1:g.15819_15822dup, NG_032163.1:g.15818_15822dup, NG_032163.1:g.15816_15822dup, NG_032163.1:g.15814_15822dup, NG_032163.1:g.15804_15822T[26]C[4]AAATTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14910031113.

rs1491003111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:40640267 (GRCh38)
17:38796519 (GRCh37)
Canonical SPDI:: NC_000017.11:40640266:C:A
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.40640267C>A, NC_000017.10:g.38796519C>A, NG_032163.1:g.12585G>T

Select item 14909521604.

rs1490952160 [Homo sapiens]

Variant type:: DEL
Alleles:: GTGAA>- [Show Flanks]
Chromosome:: 17:40641281 (GRCh38)
17:38797533 (GRCh37)
Canonical SPDI:: NC_000017.11:40641280:GTGAA:
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40641281_40641285del, NC_000017.10:g.38797533_38797537del, NG_032163.1:g.11567_11571del

Select item 14908974555.

rs1490897455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40630520 (GRCh38)
17:38786772 (GRCh37)
Canonical SPDI:: NC_000017.11:40630519:A:G
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.40630520A>G, NC_000017.10:g.38786772A>G, NG_032163.1:g.22332T>C

Select item 14908653426.

rs1490865342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:40639099 (GRCh38)
17:38795351 (GRCh37)
Canonical SPDI:: NC_000017.11:40639098:A:C,NC_000017.11:40639098:A:G
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40639099A>C, NC_000017.11:g.40639099A>G, NC_000017.10:g.38795351A>C, NC_000017.10:g.38795351A>G, NG_032163.1:g.13753T>G, NG_032163.1:g.13753T>C

Select item 14907420887.

rs1490742088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:40647654 (GRCh38)
17:38803906 (GRCh37)
Canonical SPDI:: NC_000017.11:40647653:G:A,NC_000017.11:40647653:G:C
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40647654G>A, NC_000017.11:g.40647654G>C, NC_000017.10:g.38803906G>A, NC_000017.10:g.38803906G>C, NG_032163.1:g.5198C>T, NG_032163.1:g.5198C>G

Select item 14901843348.

rs1490184334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40640812 (GRCh38)
17:38797064 (GRCh37)
Canonical SPDI:: NC_000017.11:40640811:C:T
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40640812C>T, NC_000017.10:g.38797064C>T, NG_032163.1:g.12040G>A

Select item 14901329099.

rs1490132909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:40641853 (GRCh38)
17:38798105 (GRCh37)
Canonical SPDI:: NC_000017.11:40641852:G:T
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40641853G>T, NC_000017.10:g.38798105G>T, NG_032163.1:g.10999C>A

Select item 149001979110.

rs1490019791 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40641273 (GRCh38)
17:38797525 (GRCh37)
Canonical SPDI:: NC_000017.11:40641272:T:C
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40641273T>C, NC_000017.10:g.38797525T>C, NG_032163.1:g.11579A>G

Select item 148997067811.

rs1489970678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:40642585 (GRCh38)
17:38798837 (GRCh37)
Canonical SPDI:: NC_000017.11:40642584:C:G,NC_000017.11:40642584:C:T
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.40642585C>G, NC_000017.11:g.40642585C>T, NC_000017.10:g.38798837C>G, NC_000017.10:g.38798837C>T, NG_032163.1:g.10267G>C, NG_032163.1:g.10267G>A

Select item 148986899112.

rs1489868991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40635335 (GRCh38)
17:38791587 (GRCh37)
Canonical SPDI:: NC_000017.11:40635334:C:T
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.40635335C>T, NC_000017.10:g.38791587C>T, NG_032163.1:g.17517G>A

Select item 148973974913.

rs1489739749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40633138 (GRCh38)
17:38789390 (GRCh37)
Canonical SPDI:: NC_000017.11:40633137:T:C
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40633138T>C, NC_000017.10:g.38789390T>C, NG_032163.1:g.19714A>G

Select item 148935917214.

rs1489359172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40632447 (GRCh38)
17:38788699 (GRCh37)
Canonical SPDI:: NC_000017.11:40632446:C:T
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40632447C>T, NC_000017.10:g.38788699C>T, NG_032163.1:g.20405G>A

Select item 148927175815.

rs1489271758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:40649830 (GRCh38)
17:38806082 (GRCh37)
Canonical SPDI:: NC_000017.11:40649829:G:T
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.40649830G>T, NC_000017.10:g.38806082G>T, NG_032163.1:g.3022C>A

Select item 148873524916.

rs1488735249 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:40627757 (GRCh38)
17:38784009 (GRCh37)
Canonical SPDI:: NC_000017.11:40627753:ATATA:ATA
Gene:: SMARCE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.40627755TA[1], NC_000017.10:g.38784007TA[1], NG_032163.1:g.25095AT[1], NM_003079.5:c.*1028AT[1], NM_003079.4:c.*1028AT[1]

Select item 148872151417.

rs1488721514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40647266 (GRCh38)
17:38803518 (GRCh37)
Canonical SPDI:: NC_000017.11:40647265:C:T
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.40647266C>T, NC_000017.10:g.38803518C>T, NG_032163.1:g.5586G>A

Select item 148862292218.

rs1488622922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:40630650 (GRCh38)
17:38786902 (GRCh37)
Canonical SPDI:: NC_000017.11:40630649:C:G
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40630650C>G, NC_000017.10:g.38786902C>G, NG_032163.1:g.22202G>C

Select item 148861232419.

rs1488612324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:40641838 (GRCh38)
17:38798090 (GRCh37)
Canonical SPDI:: NC_000017.11:40641837:A:T
Gene:: SMARCE1 (Varview)
Functional Consequence:: 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.40641838A>T, NC_000017.10:g.38798090A>T, NG_032163.1:g.11014T>A

Select item 148857103420.

rs1488571034 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40642734 (GRCh38)
17:38798986 (GRCh37)
Canonical SPDI:: NC_000017.11:40642733:T:C
Gene:: SMARCE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.40642734T>C, NC_000017.10:g.38798986T>C, NG_032163.1:g.10118A>G

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