SNP Links for Gene (Select 6853) - SNP

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Select item 14914456921.

rs1491445692 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: X:47608285 (GRCh38)
X:47467684 (GRCh37)
Canonical SPDI:: NC_000023.11:47608284:AG:
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000161/1 (GnomAD)
HGVS:: NC_000023.11:g.47608285_47608286del, NC_000023.10:g.47467684_47467685del, NG_008437.1:g.16572_16573del

Select item 14912827722.

rs1491282772 has merged into rs869237796 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: X:47603916 (GRCh38)
X:47463315 (GRCh37)
Canonical SPDI:: NC_000023.11:47603906:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:47603906:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:47603906:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:47603906:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:47603906:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:47603906:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:47603906:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:47603906:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:47603906:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:47603906:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:47603906:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:47603906:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.47603916_47603924del, NC_000023.11:g.47603917_47603924del, NC_000023.11:g.47603918_47603924del, NC_000023.11:g.47603919_47603924del, NC_000023.11:g.47603920_47603924del, NC_000023.11:g.47603921_47603924del, NC_000023.11:g.47603922_47603924del, NC_000023.11:g.47603923_47603924del, NC_000023.11:g.47603924del, NC_000023.11:g.47603924dup, NC_000023.11:g.47603923_47603924dup, NC_000023.11:g.47603922_47603924dup, NC_000023.10:g.47463315_47463323del, NC_000023.10:g.47463316_47463323del, NC_000023.10:g.47463317_47463323del, NC_000023.10:g.47463318_47463323del, NC_000023.10:g.47463319_47463323del, NC_000023.10:g.47463320_47463323del, NC_000023.10:g.47463321_47463323del, NC_000023.10:g.47463322_47463323del, NC_000023.10:g.47463323del, NC_000023.10:g.47463323dup, NC_000023.10:g.47463322_47463323dup, NC_000023.10:g.47463321_47463323dup, NG_008437.1:g.20943_20951del, NG_008437.1:g.20944_20951del, NG_008437.1:g.20945_20951del, NG_008437.1:g.20946_20951del, NG_008437.1:g.20947_20951del, NG_008437.1:g.20948_20951del, NG_008437.1:g.20949_20951del, NG_008437.1:g.20950_20951del, NG_008437.1:g.20951del, NG_008437.1:g.20951dup, NG_008437.1:g.20950_20951dup, NG_008437.1:g.20949_20951dup

Select item 14911443023.

rs1491144302 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: X:47608285 (GRCh38)
X:47467685 (GRCh37)
Canonical SPDI:: NC_000023.11:47608285:GG:GGGG
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0.01425/169 (ALFA)
HGVS:: NC_000023.11:g.47608286_47608287dup, NC_000023.10:g.47467685_47467686dup, NG_008437.1:g.16571_16572dup

Select item 14910677454.

rs1491067745 has merged into rs147024653 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: X:47589307 (GRCh38)
X:47448706 (GRCh37)
Canonical SPDI:: NC_000023.11:47589294:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:47589294:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:47589294:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:47589294:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:47589294:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:47589294:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:47589294:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:47589294:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:47589294:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.47589307_47589311del, NC_000023.11:g.47589308_47589311del, NC_000023.11:g.47589309_47589311del, NC_000023.11:g.47589310_47589311del, NC_000023.11:g.47589311del, NC_000023.11:g.47589311dup, NC_000023.11:g.47589310_47589311dup, NC_000023.11:g.47589309_47589311dup, NC_000023.11:g.47589308_47589311dup, NC_000023.10:g.47448706_47448710del, NC_000023.10:g.47448707_47448710del, NC_000023.10:g.47448708_47448710del, NC_000023.10:g.47448709_47448710del, NC_000023.10:g.47448710del, NC_000023.10:g.47448710dup, NC_000023.10:g.47448709_47448710dup, NC_000023.10:g.47448708_47448710dup, NC_000023.10:g.47448707_47448710dup, NG_008437.1:g.35559_35563del, NG_008437.1:g.35560_35563del, NG_008437.1:g.35561_35563del, NG_008437.1:g.35562_35563del, NG_008437.1:g.35563del, NG_008437.1:g.35563dup, NG_008437.1:g.35562_35563dup, NG_008437.1:g.35561_35563dup, NG_008437.1:g.35560_35563dup

Select item 14909291425.

rs1490929142 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:47609068 (GRCh38)
X:47468467 (GRCh37)
Canonical SPDI:: NC_000023.11:47609067:T:C
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.47609068T>C, NC_000023.10:g.47468467T>C, NG_008437.1:g.15790A>G

Select item 14909056546.

rs1490905654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:47588526 (GRCh38)
X:47447925 (GRCh37)
Canonical SPDI:: NC_000023.11:47588525:G:A,NC_000023.11:47588525:G:C
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.47588526G>A, NC_000023.11:g.47588526G>C, NC_000023.10:g.47447925G>A, NC_000023.10:g.47447925G>C, NG_008437.1:g.36332C>T, NG_008437.1:g.36332C>G, NG_012533.1:g.11236G>A, NG_012533.1:g.11236G>C

Select item 14907085847.

rs1490708584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47609705 (GRCh38)
X:47469104 (GRCh37)
Canonical SPDI:: NC_000023.11:47609704:C:T
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.47609705C>T, NC_000023.10:g.47469104C>T, NG_008437.1:g.15153G>A

Select item 14905805798.

rs1490580579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47621703 (GRCh38)
X:47481102 (GRCh37)
Canonical SPDI:: NC_000023.11:47621702:C:T
Gene:: SYN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.47621703C>T, NC_000023.10:g.47481102C>T, NG_008437.1:g.3155G>A

Select item 14905489339.

rs1490548933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47599505 (GRCh38)
X:47458904 (GRCh37)
Canonical SPDI:: NC_000023.11:47599504:C:T
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.47599505C>T, NC_000023.10:g.47458904C>T, NG_008437.1:g.25353G>A

Select item 149052423410.

rs1490524234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47620154 (GRCh38)
X:47479553 (GRCh37)
Canonical SPDI:: NC_000023.11:47620153:G:A
Gene:: SYN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.47620154G>A, NC_000023.10:g.47479553G>A, NG_008437.1:g.4704C>T, NG_081219.1:g.385G>A

Select item 149050137811.

rs1490501378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:47598094 (GRCh38)
X:47457493 (GRCh37)
Canonical SPDI:: NC_000023.11:47598093:A:T
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.47598094A>T, NC_000023.10:g.47457493A>T, NG_008437.1:g.26764T>A

Select item 149028641912.

rs1490286419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47581892 (GRCh38)
X:47441291 (GRCh37)
Canonical SPDI:: NC_000023.11:47581891:G:A
Gene:: SYN1 (Varview), TIMP1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.47581892G>A, NC_000023.10:g.47441291G>A, NG_008437.1:g.42966C>T, NG_012533.1:g.4602G>A

Select item 149025461013.

rs1490254610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47620255 (GRCh38)
X:47479654 (GRCh37)
Canonical SPDI:: NC_000023.11:47620254:C:T
Gene:: SYN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000019/2 (GnomAD)
T=0.00081/10 (TOMMO)
HGVS:: NC_000023.11:g.47620255C>T, NC_000023.10:g.47479654C>T, NG_008437.1:g.4603G>A, NG_081219.1:g.486C>T

Select item 149022147514.

rs1490221475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47598238 (GRCh38)
X:47457637 (GRCh37)
Canonical SPDI:: NC_000023.11:47598237:G:A
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000142/2 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.47598238G>A, NC_000023.10:g.47457637G>A, NG_008437.1:g.26620C>T

Select item 149016816315.

rs1490168163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47617502 (GRCh38)
X:47476901 (GRCh37)
Canonical SPDI:: NC_000023.11:47617501:G:A
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000023.11:g.47617502G>A, NC_000023.10:g.47476901G>A, NG_008437.1:g.7356C>T

Select item 149014129316.

rs1490141293 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:47577104 (GRCh38)
X:47436503 (GRCh37)
Canonical SPDI:: NC_000023.11:47577103:A:G
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.47577104A>G, NC_000023.10:g.47436503A>G, NG_008437.1:g.47754T>C

Select item 149010892417.

rs1490108924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47596808 (GRCh38)
X:47456207 (GRCh37)
Canonical SPDI:: NC_000023.11:47596807:G:A
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47596808G>A, NC_000023.10:g.47456207G>A, NG_008437.1:g.28050C>T

Select item 148994616418.

rs1489946164 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:47597449 (GRCh38)
X:47456848 (GRCh37)
Canonical SPDI:: NC_000023.11:47597448:T:A
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47597449T>A, NC_000023.10:g.47456848T>A, NG_008437.1:g.27409A>T

Select item 148993035019.

rs1489930350 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:47605760 (GRCh38)
X:47465159 (GRCh37)
Canonical SPDI:: NC_000023.11:47605759:T:G
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47605760T>G, NC_000023.10:g.47465159T>G, NG_008437.1:g.19098A>C

Select item 148989504420.

rs1489895044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: X:47608825 (GRCh38)
X:47468224 (GRCh37)
Canonical SPDI:: NC_000023.11:47608824:G:A,NC_000023.11:47608824:G:C,NC_000023.11:47608824:G:T
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.47608825G>A, NC_000023.11:g.47608825G>C, NC_000023.11:g.47608825G>T, NC_000023.10:g.47468224G>A, NC_000023.10:g.47468224G>C, NC_000023.10:g.47468224G>T, NG_008437.1:g.16033C>T, NG_008437.1:g.16033C>G, NG_008437.1:g.16033C>A

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