SNP Links for Nucleotide (Select 343962631) - SNP

Select item 14906872301.

rs1490687230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:111660671 (GRCh38)
6:111981874 (GRCh37)
Canonical SPDI:: NC_000006.12:111660670:G:A
Gene:: FYN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.111660671G>A, NC_000006.11:g.111981874G>A, NM_002037.5:c.*1068C>T, XM_005266892.5:c.*1068C>T, XM_005266892.2:c.*1068C>T, XM_005266892.1:c.*1068C>T, NM_153047.4:c.*1068C>T, NM_153047.3:c.*1068C>T, NM_153048.4:c.*1068C>T, NM_153048.3:c.*1068C>T, XM_017010651.2:c.*1068C>T, XM_017010652.2:c.*1068C>T, XM_017010650.2:c.*1068C>T, XM_017010653.2:c.*1068C>T, XM_047418567.1:c.*1068C>T, XM_047418566.1:c.*1068C>T, XM_047418565.1:c.*1068C>T, XM_047418571.1:c.*1068C>T, XM_047418563.1:c.*1068C>T, XM_047418570.1:c.*1068C>T, XM_047418562.1:c.*1068C>T, XM_047418561.1:c.*1068C>T, XM_047418569.1:c.*1068C>T, XM_047418568.1:c.*1068C>T, XM_047418572.1:c.*1068C>T, NM_001370529.1:c.*1068C>T, XM_047418573.1:c.*1068C>T

Select item 14897034152.

rs1489703415 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:111694376 (GRCh38)
6:112015579 (GRCh37)
Canonical SPDI:: NC_000006.12:111694375:T:C
Gene:: FYN (Varview), LOC105377945 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.111694376T>C, NC_000006.11:g.112015579T>C, NM_002037.5:c.1272A>G, XM_005266892.5:c.1107A>G, XM_005266892.4:c.1107A>G, XM_005266892.3:c.1107A>G, XM_005266892.2:c.1107A>G, XM_005266892.1:c.1107A>G, NM_153047.4:c.1263A>G, NM_153047.3:c.1263A>G, NM_153048.4:c.1107A>G, NM_153048.3:c.1107A>G, XM_017010651.2:c.1272A>G, XM_017010651.1:c.1272A>G, XM_017010652.2:c.1272A>G, XM_017010652.1:c.1272A>G, XM_017010650.2:c.1272A>G, XM_017010650.1:c.1272A>G, XM_017010653.2:c.1272A>G, XM_017010653.1:c.1272A>G, XM_047418567.1:c.1272A>G, XM_047418566.1:c.1272A>G, XM_047418565.1:c.1272A>G, XM_047418571.1:c.1263A>G, XM_047418563.1:c.1272A>G, XM_047418570.1:c.1263A>G, XM_047418562.1:c.1272A>G, XM_047418561.1:c.1272A>G, XM_047418569.1:c.1263A>G, XM_047418568.1:c.1263A>G, XM_047418572.1:c.1107A>G, NM_001370529.1:c.1272A>G, XM_047418573.1:c.987A>G, NM_001242779.1:c.1116A>G

Select item 14895625333.

rs1489562533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:111873095 (GRCh38)
6:112194298 (GRCh37)
Canonical SPDI:: NC_000006.12:111873094:G:A,NC_000006.12:111873094:G:C
Gene:: FYN (Varview), LOC102724646 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.111873095G>A, NC_000006.12:g.111873095G>C, NC_000006.11:g.112194298G>A, NC_000006.11:g.112194298G>C, NM_002037.5:c.-250C>T, NM_002037.5:c.-250C>G, XM_005266892.5:c.-250C>T, XM_005266892.5:c.-250C>G, XM_005266892.2:c.-250C>T, XM_005266892.2:c.-250C>G, XM_047418561.1:c.-209C>T, XM_047418561.1:c.-209C>G, XM_047418569.1:c.-209C>T, XM_047418569.1:c.-209C>G

Select item 14886066124.

rs1488606612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:111873116 (GRCh38)
6:112194319 (GRCh37)
Canonical SPDI:: NC_000006.12:111873115:C:G
Gene:: FYN (Varview), LOC102724646 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.111873116C>G, NC_000006.11:g.112194319C>G, NM_002037.5:c.-271G>C, XM_005266892.5:c.-271G>C, XM_005266892.2:c.-271G>C, XM_047418561.1:c.-230G>C, XM_047418569.1:c.-230G>C

Select item 14884774665.

rs1488477466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:111660412 (GRCh38)
6:111981615 (GRCh37)
Canonical SPDI:: NC_000006.12:111660411:A:G
Gene:: FYN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.111660412A>G, NC_000006.11:g.111981615A>G, NM_002037.5:c.*1327T>C, XM_005266892.5:c.*1327T>C, XM_005266892.2:c.*1327T>C, XM_005266892.1:c.*1327T>C, NM_153047.4:c.*1327T>C, NM_153047.3:c.*1327T>C, NM_153048.4:c.*1327T>C, NM_153048.3:c.*1327T>C, XM_017010651.2:c.*1327T>C, XM_017010652.2:c.*1327T>C, XM_017010650.2:c.*1327T>C, XM_017010653.2:c.*1327T>C, XM_047418567.1:c.*1327T>C, XM_047418566.1:c.*1327T>C, XM_047418565.1:c.*1327T>C, XM_047418571.1:c.*1327T>C, XM_047418563.1:c.*1327T>C, XM_047418570.1:c.*1327T>C, XM_047418562.1:c.*1327T>C, XM_047418561.1:c.*1327T>C, XM_047418569.1:c.*1327T>C, XM_047418568.1:c.*1327T>C, XM_047418572.1:c.*1327T>C, NM_001370529.1:c.*1327T>C, XM_047418573.1:c.*1327T>C

Select item 14880364106.

rs1488036410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:111873058 (GRCh38)
6:112194261 (GRCh37)
Canonical SPDI:: NC_000006.12:111873057:C:A,NC_000006.12:111873057:C:T
Gene:: FYN (Varview), LOC102724646 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.111873058C>A, NC_000006.12:g.111873058C>T, NC_000006.11:g.112194261C>A, NC_000006.11:g.112194261C>T, NM_002037.5:c.-213G>T, NM_002037.5:c.-213G>A, XM_005266892.5:c.-213G>T, XM_005266892.5:c.-213G>A, XM_005266892.4:c.-213G>T, XM_005266892.4:c.-213G>A, XM_005266892.2:c.-213G>T, XM_005266892.2:c.-213G>A, NM_153047.4:c.-213G>T, NM_153047.4:c.-213G>A, XM_047418561.1:c.-172G>T, XM_047418561.1:c.-172G>A, XM_047418569.1:c.-172G>T, XM_047418569.1:c.-172G>A

Select item 14876510977.

rs1487651097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:111873426 (GRCh38)
6:112194629 (GRCh37)
Canonical SPDI:: NC_000006.12:111873425:G:A
Gene:: FYN (Varview), LOC102724646 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.111873426G>A, NC_000006.11:g.112194629G>A, NM_002037.5:c.-581C>T, XM_005266892.5:c.-581C>T, XM_005266892.2:c.-581C>T, XM_047418561.1:c.-540C>T, XM_047418569.1:c.-540C>T

Select item 14870792838.

rs1487079283 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:111660815 (GRCh38)
6:111982018 (GRCh37)
Canonical SPDI:: NC_000006.12:111660814:A:G,NC_000006.12:111660814:A:T
Gene:: FYN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.111660815A>G, NC_000006.12:g.111660815A>T, NC_000006.11:g.111982018A>G, NC_000006.11:g.111982018A>T, NM_002037.5:c.*924T>C, NM_002037.5:c.*924T>A, XM_005266892.5:c.*924T>C, XM_005266892.5:c.*924T>A, XM_005266892.4:c.*924T>C, XM_005266892.4:c.*924T>A, XM_005266892.3:c.*924T>C, XM_005266892.3:c.*924T>A, XM_005266892.2:c.*924T>C, XM_005266892.2:c.*924T>A, XM_005266892.1:c.*924T>C, XM_005266892.1:c.*924T>A, NM_153047.4:c.*924T>C, NM_153047.4:c.*924T>A, NM_153047.3:c.*924T>C, NM_153047.3:c.*924T>A, NM_153048.4:c.*924T>C, NM_153048.4:c.*924T>A, NM_153048.3:c.*924T>C, NM_153048.3:c.*924T>A, XM_017010651.2:c.*924T>C, XM_017010651.2:c.*924T>A, XM_017010651.1:c.*924T>C, XM_017010651.1:c.*924T>A, XM_017010652.2:c.*924T>C, XM_017010652.2:c.*924T>A, XM_017010652.1:c.*924T>C, XM_017010652.1:c.*924T>A, XM_017010650.2:c.*924T>C, XM_017010650.2:c.*924T>A, XM_017010650.1:c.*924T>C, XM_017010650.1:c.*924T>A, XM_017010653.2:c.*924T>C, XM_017010653.2:c.*924T>A, XM_017010653.1:c.*924T>C, XM_017010653.1:c.*924T>A, XM_047418567.1:c.*924T>C, XM_047418567.1:c.*924T>A, XM_047418566.1:c.*924T>C, XM_047418566.1:c.*924T>A, XM_047418565.1:c.*924T>C, XM_047418565.1:c.*924T>A, XM_047418571.1:c.*924T>C, XM_047418571.1:c.*924T>A, XM_047418563.1:c.*924T>C, XM_047418563.1:c.*924T>A, XM_047418570.1:c.*924T>C, XM_047418570.1:c.*924T>A, XM_047418562.1:c.*924T>C, XM_047418562.1:c.*924T>A, XM_047418561.1:c.*924T>C, XM_047418561.1:c.*924T>A, XM_047418569.1:c.*924T>C, XM_047418569.1:c.*924T>A, XM_047418568.1:c.*924T>C, XM_047418568.1:c.*924T>A, XM_047418572.1:c.*924T>C, XM_047418572.1:c.*924T>A, NM_001370529.1:c.*924T>C, NM_001370529.1:c.*924T>A, XM_047418573.1:c.*924T>C, XM_047418573.1:c.*924T>A

Select item 14869321849.

rs1486932184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:111873343 (GRCh38)
6:112194546 (GRCh37)
Canonical SPDI:: NC_000006.12:111873342:G:A,NC_000006.12:111873342:G:T
Gene:: FYN (Varview), LOC102724646 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.111873343G>A, NC_000006.12:g.111873343G>T, NC_000006.11:g.112194546G>A, NC_000006.11:g.112194546G>T, NM_002037.5:c.-498C>T, NM_002037.5:c.-498C>A, XM_005266892.5:c.-498C>T, XM_005266892.5:c.-498C>A, XM_005266892.2:c.-498C>T, XM_005266892.2:c.-498C>A, XM_047418561.1:c.-457C>T, XM_047418561.1:c.-457C>A, XM_047418569.1:c.-457C>T, XM_047418569.1:c.-457C>A

Select item 148677542110.

rs1486775421 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:111661181 (GRCh38)
6:111982384 (GRCh37)
Canonical SPDI:: NC_000006.12:111661178:CACA:CA
Gene:: FYN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.111661179CA[1], NC_000006.11:g.111982382CA[1], NM_002037.5:c.*557TG[1], XM_005266892.5:c.*557TG[1], XM_005266892.4:c.*557TG[1], XM_005266892.3:c.*557TG[1], XM_005266892.2:c.*557TG[1], XM_005266892.1:c.*557TG[1], NM_153047.4:c.*557TG[1], NM_153047.3:c.*557TG[1], NM_153048.4:c.*557TG[1], NM_153048.3:c.*557TG[1], XM_017010651.2:c.*557TG[1], XM_017010651.1:c.*557TG[1], XM_017010652.2:c.*557TG[1], XM_017010652.1:c.*557TG[1], XM_017010650.2:c.*557TG[1], XM_017010650.1:c.*557TG[1], XM_017010653.2:c.*557TG[1], XM_017010653.1:c.*557TG[1], XM_047418567.1:c.*557TG[1], XM_047418566.1:c.*557TG[1], XM_047418565.1:c.*557TG[1], XM_047418571.1:c.*557TG[1], XM_047418563.1:c.*557TG[1], XM_047418570.1:c.*557TG[1], XM_047418562.1:c.*557TG[1], XM_047418561.1:c.*557TG[1], XM_047418569.1:c.*557TG[1], XM_047418568.1:c.*557TG[1], XM_047418572.1:c.*557TG[1], NM_001370529.1:c.*557TG[1], XM_047418573.1:c.*557TG[1]

Select item 148666718711.

rs1486667187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:111873193 (GRCh38)
6:112194396 (GRCh37)
Canonical SPDI:: NC_000006.12:111873192:C:A
Gene:: FYN (Varview), LOC102724646 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000006.12:g.111873193C>A, NC_000006.11:g.112194396C>A, NM_002037.5:c.-348G>T, XM_005266892.5:c.-348G>T, XM_005266892.2:c.-348G>T, XM_047418561.1:c.-307G>T, XM_047418569.1:c.-307G>T

Select item 148567483012.

rs1485674830 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,TTTT [Show Flanks]
Chromosome:: 6:111660549 (GRCh38)
6:111981752 (GRCh37)
Canonical SPDI:: NC_000006.12:111660545:TTTTTT:TTT,NC_000006.12:111660545:TTTTTT:TTTTTTT
Gene:: FYN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.111660549_111660551del, NC_000006.12:g.111660551dup, NC_000006.11:g.111981752_111981754del, NC_000006.11:g.111981754dup, NM_002037.5:c.*1191_*1193del, NM_002037.5:c.*1193dup, XM_005266892.5:c.*1191_*1193del, XM_005266892.5:c.*1193dup, XM_005266892.2:c.*1191_*1193del, XM_005266892.2:c.*1193dup, XM_005266892.1:c.*1191_*1193del, XM_005266892.1:c.*1193dup, NM_153047.4:c.*1191_*1193del, NM_153047.4:c.*1193dup, NM_153047.3:c.*1191_*1193del, NM_153047.3:c.*1193dup, NM_153048.4:c.*1191_*1193del, NM_153048.4:c.*1193dup, NM_153048.3:c.*1191_*1193del, NM_153048.3:c.*1193dup, XM_017010651.2:c.*1191_*1193del, XM_017010651.2:c.*1193dup, XM_017010652.2:c.*1191_*1193del, XM_017010652.2:c.*1193dup, XM_017010650.2:c.*1191_*1193del, XM_017010650.2:c.*1193dup, XM_017010653.2:c.*1191_*1193del, XM_017010653.2:c.*1193dup, XM_047418567.1:c.*1191_*1193del, XM_047418567.1:c.*1193dup, XM_047418566.1:c.*1191_*1193del, XM_047418566.1:c.*1193dup, XM_047418565.1:c.*1191_*1193del, XM_047418565.1:c.*1193dup, XM_047418571.1:c.*1191_*1193del, XM_047418571.1:c.*1193dup, XM_047418563.1:c.*1191_*1193del, XM_047418563.1:c.*1193dup, XM_047418570.1:c.*1191_*1193del, XM_047418570.1:c.*1193dup, XM_047418562.1:c.*1191_*1193del, XM_047418562.1:c.*1193dup, XM_047418561.1:c.*1191_*1193del, XM_047418561.1:c.*1193dup, XM_047418569.1:c.*1191_*1193del, XM_047418569.1:c.*1193dup, XM_047418568.1:c.*1191_*1193del, XM_047418568.1:c.*1193dup, XM_047418572.1:c.*1191_*1193del, XM_047418572.1:c.*1193dup, NM_001370529.1:c.*1191_*1193del, NM_001370529.1:c.*1193dup, XM_047418573.1:c.*1191_*1193del, XM_047418573.1:c.*1193dup

Select item 148456892913.

rs1484568929 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:111700248 (GRCh38)
6:112021451 (GRCh37)
Canonical SPDI:: NC_000006.12:111700247:A:G
Gene:: FYN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.111700248A>G, NC_000006.11:g.112021451A>G, NM_002037.5:c.718T>C, XM_017010651.2:c.718T>C, XM_017010651.1:c.718T>C, XM_017010652.2:c.718T>C, XM_017010652.1:c.718T>C, XM_017010650.2:c.718T>C, XM_017010650.1:c.718T>C, XM_017010653.2:c.718T>C, XM_017010653.1:c.718T>C, XM_047418567.1:c.718T>C, XM_047418566.1:c.718T>C, XM_047418565.1:c.718T>C, XM_047418563.1:c.718T>C, XM_047418562.1:c.718T>C, XM_047418561.1:c.718T>C, NM_001370529.1:c.718T>C, XM_047418573.1:c.433T>C, NP_002028.1:p.Cys240Arg, XP_016866140.1:p.Cys240Arg, XP_016866141.1:p.Cys240Arg, XP_016866139.1:p.Cys240Arg, XP_016866142.1:p.Cys240Arg, XP_047274523.1:p.Cys240Arg, XP_047274522.1:p.Cys240Arg, XP_047274521.1:p.Cys240Arg, XP_047274519.1:p.Cys240Arg, XP_047274518.1:p.Cys240Arg, XP_047274517.1:p.Cys240Arg, NP_001357458.1:p.Cys240Arg, XP_047274529.1:p.Cys145Arg

Select item 148426767314.

rs1484267673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:111696411 (GRCh38)
6:112017614 (GRCh37)
Canonical SPDI:: NC_000006.12:111696410:G:A
Gene:: FYN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000006.12:g.111696411G>A, NC_000006.11:g.112017614G>A, NM_002037.5:c.908C>T, XM_005266892.5:c.743C>T, XM_005266892.4:c.743C>T, XM_005266892.3:c.743C>T, XM_005266892.2:c.743C>T, XM_005266892.1:c.743C>T, NM_153047.4:c.899C>T, NM_153047.3:c.899C>T, NM_153048.4:c.743C>T, NM_153048.3:c.743C>T, XM_017010651.2:c.908C>T, XM_017010651.1:c.908C>T, XM_017010652.2:c.908C>T, XM_017010652.1:c.908C>T, XM_017010650.2:c.908C>T, XM_017010650.1:c.908C>T, XM_017010653.2:c.908C>T, XM_017010653.1:c.908C>T, XM_047418567.1:c.908C>T, XM_047418566.1:c.908C>T, XM_047418565.1:c.908C>T, XM_047418571.1:c.899C>T, XM_047418563.1:c.908C>T, XM_047418570.1:c.899C>T, XM_047418562.1:c.908C>T, XM_047418561.1:c.908C>T, XM_047418569.1:c.899C>T, XM_047418568.1:c.899C>T, XM_047418572.1:c.743C>T, NM_001370529.1:c.908C>T, XM_047418573.1:c.623C>T, NM_001242779.1:c.752C>T, NP_002028.1:p.Pro303Leu, XP_005266949.1:p.Pro248Leu, NP_694592.1:p.Pro300Leu, NP_694593.1:p.Pro248Leu, XP_016866140.1:p.Pro303Leu, XP_016866141.1:p.Pro303Leu, XP_016866139.1:p.Pro303Leu, XP_016866142.1:p.Pro303Leu, XP_047274523.1:p.Pro303Leu, XP_047274522.1:p.Pro303Leu, XP_047274521.1:p.Pro303Leu, XP_047274527.1:p.Pro300Leu, XP_047274519.1:p.Pro303Leu, XP_047274526.1:p.Pro300Leu, XP_047274518.1:p.Pro303Leu, XP_047274517.1:p.Pro303Leu, XP_047274525.1:p.Pro300Leu, XP_047274524.1:p.Pro300Leu, XP_047274528.1:p.Pro248Leu, NP_001357458.1:p.Pro303Leu, XP_047274529.1:p.Pro208Leu

Select item 148372264615.

rs1483722646 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:111661583 (GRCh38)
6:111982786 (GRCh37)
Canonical SPDI:: NC_000006.12:111661582:T:C
Gene:: FYN (Varview)
Functional Consequence:: 3_prime_UTR_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_000006.12:g.111661583T>C, NC_000006.11:g.111982786T>C, NM_002037.5:c.*156A>G, XM_005266892.5:c.*156A>G, XM_005266892.4:c.*156A>G, XM_005266892.3:c.*156A>G, XM_005266892.2:c.*156A>G, XM_005266892.1:c.*156A>G, NM_153047.4:c.*156A>G, NM_153047.3:c.*156A>G, NM_153048.4:c.*156A>G, NM_153048.3:c.*156A>G, XM_017010651.2:c.*156A>G, XM_017010651.1:c.*156A>G, XM_017010652.2:c.*156A>G, XM_017010652.1:c.*156A>G, XM_017010650.2:c.*156A>G, XM_017010650.1:c.*156A>G, XM_017010653.2:c.*156A>G, XM_017010653.1:c.*156A>G, XM_047418567.1:c.*156A>G, XM_047418566.1:c.*156A>G, XM_047418565.1:c.*156A>G, XM_047418571.1:c.*156A>G, XM_047418563.1:c.*156A>G, XM_047418570.1:c.*156A>G, XM_047418562.1:c.*156A>G, XM_047418561.1:c.*156A>G, XM_047418569.1:c.*156A>G, XM_047418568.1:c.*156A>G, XM_047418572.1:c.*156A>G, NM_001370529.1:c.*156A>G, XM_047418573.1:c.*156A>G, NM_001242779.1:c.*156A>G

Select item 148314302816.

rs1483143028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:111660708 (GRCh38)
6:111981911 (GRCh37)
Canonical SPDI:: NC_000006.12:111660707:A:C
Gene:: FYN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.111660708A>C, NC_000006.11:g.111981911A>C, NM_002037.5:c.*1031T>G, XM_005266892.5:c.*1031T>G, XM_005266892.2:c.*1031T>G, XM_005266892.1:c.*1031T>G, NM_153047.4:c.*1031T>G, NM_153047.3:c.*1031T>G, NM_153048.4:c.*1031T>G, NM_153048.3:c.*1031T>G, XM_017010651.2:c.*1031T>G, XM_017010652.2:c.*1031T>G, XM_017010650.2:c.*1031T>G, XM_017010653.2:c.*1031T>G, XM_047418567.1:c.*1031T>G, XM_047418566.1:c.*1031T>G, XM_047418565.1:c.*1031T>G, XM_047418571.1:c.*1031T>G, XM_047418563.1:c.*1031T>G, XM_047418570.1:c.*1031T>G, XM_047418562.1:c.*1031T>G, XM_047418561.1:c.*1031T>G, XM_047418569.1:c.*1031T>G, XM_047418568.1:c.*1031T>G, XM_047418572.1:c.*1031T>G, NM_001370529.1:c.*1031T>G, XM_047418573.1:c.*1031T>G

Select item 148243207817.

rs1482432078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:111873198 (GRCh38)
6:112194401 (GRCh37)
Canonical SPDI:: NC_000006.12:111873197:G:A
Gene:: FYN (Varview), LOC102724646 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.111873198G>A, NC_000006.11:g.112194401G>A, NM_002037.5:c.-353C>T, XM_005266892.5:c.-353C>T, XM_005266892.2:c.-353C>T, XM_047418561.1:c.-312C>T, XM_047418569.1:c.-312C>T

Select item 147839267618.

rs1478392676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:111707960 (GRCh38)
6:112029163 (GRCh37)
Canonical SPDI:: NC_000006.12:111707959:G:A
Gene:: FYN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.111707960G>A, NC_000006.11:g.112029163G>A, NM_002037.5:c.405C>T, XM_005266892.5:c.405C>T, XM_005266892.4:c.405C>T, XM_005266892.3:c.405C>T, XM_005266892.2:c.405C>T, XM_005266892.1:c.405C>T, NM_153047.4:c.405C>T, NM_153047.3:c.405C>T, NM_153048.4:c.405C>T, NM_153048.3:c.405C>T, XM_017010651.2:c.405C>T, XM_017010651.1:c.405C>T, XM_017010652.2:c.405C>T, XM_017010652.1:c.405C>T, XM_017010650.2:c.405C>T, XM_017010650.1:c.405C>T, XM_017010653.2:c.405C>T, XM_017010653.1:c.405C>T, XM_047418567.1:c.405C>T, XM_047418566.1:c.405C>T, XM_047418565.1:c.405C>T, XM_047418571.1:c.405C>T, XM_047418563.1:c.405C>T, XM_047418570.1:c.405C>T, XM_047418562.1:c.405C>T, XM_047418561.1:c.405C>T, XM_047418569.1:c.405C>T, XM_047418568.1:c.405C>T, XM_047418572.1:c.405C>T, NM_001370529.1:c.405C>T, XM_047418573.1:c.120C>T

Select item 147810607219.

rs1478106072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:111873170 (GRCh38)
6:112194373 (GRCh37)
Canonical SPDI:: NC_000006.12:111873169:G:C,NC_000006.12:111873169:G:T
Gene:: FYN (Varview), LOC102724646 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.111873170G>C, NC_000006.12:g.111873170G>T, NC_000006.11:g.112194373G>C, NC_000006.11:g.112194373G>T, NM_002037.5:c.-325C>G, NM_002037.5:c.-325C>A, XM_005266892.5:c.-325C>G, XM_005266892.5:c.-325C>A, XM_005266892.2:c.-325C>G, XM_005266892.2:c.-325C>A, XM_047418561.1:c.-284C>G, XM_047418561.1:c.-284C>A, XM_047418569.1:c.-284C>G, XM_047418569.1:c.-284C>A

Select item 147807362220.

rs1478073622 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:111694430 (GRCh38)
6:112015633 (GRCh37)
Canonical SPDI:: NC_000006.12:111694429:A:G
Gene:: FYN (Varview), LOC105377945 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.111694430A>G, NC_000006.11:g.112015633A>G, NM_002037.5:c.1218T>C, XM_005266892.5:c.1053T>C, XM_005266892.4:c.1053T>C, XM_005266892.3:c.1053T>C, XM_005266892.2:c.1053T>C, XM_005266892.1:c.1053T>C, NM_153047.4:c.1209T>C, NM_153047.3:c.1209T>C, NM_153048.4:c.1053T>C, NM_153048.3:c.1053T>C, XM_017010651.2:c.1218T>C, XM_017010651.1:c.1218T>C, XM_017010652.2:c.1218T>C, XM_017010652.1:c.1218T>C, XM_017010650.2:c.1218T>C, XM_017010650.1:c.1218T>C, XM_017010653.2:c.1218T>C, XM_017010653.1:c.1218T>C, XM_047418567.1:c.1218T>C, XM_047418566.1:c.1218T>C, XM_047418565.1:c.1218T>C, XM_047418571.1:c.1209T>C, XM_047418563.1:c.1218T>C, XM_047418570.1:c.1209T>C, XM_047418562.1:c.1218T>C, XM_047418561.1:c.1218T>C, XM_047418569.1:c.1209T>C, XM_047418568.1:c.1209T>C, XM_047418572.1:c.1053T>C, NM_001370529.1:c.1218T>C, XM_047418573.1:c.933T>C, NM_001242779.1:c.1062T>C

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