SNP Links for Gene (Select 4974) - SNP

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Select item 14895826661.

rs1489582666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31295783 (GRCh38)
17:29622801 (GRCh37)
Canonical SPDI:: NC_000017.11:31295782:A:G
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000017.11:g.31295783A>G, NC_000017.10:g.29622801A>G, NG_009018.1:g.205807A>G, NW_025791803.1:g.374945A>G, NM_002544.5:c.549T>C, NM_002544.4:c.549T>C

Select item 14887164362.

rs1488716436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31295244 (GRCh38)
17:29622262 (GRCh37)
Canonical SPDI:: NC_000017.11:31295243:G:A
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.31295244G>A, NC_000017.10:g.29622262G>A, NG_009018.1:g.205268G>A, NW_025791803.1:g.374406G>A, NM_002544.5:c.1088C>T, NM_002544.4:c.1088C>T, NP_002535.3:p.Thr363Ile

Select item 14886323393.

rs1488632339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:31295655 (GRCh38)
17:29622673 (GRCh37)
Canonical SPDI:: NC_000017.11:31295654:C:G,NC_000017.11:31295654:C:T
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31295655C>G, NC_000017.11:g.31295655C>T, NC_000017.10:g.29622673C>G, NC_000017.10:g.29622673C>T, NG_009018.1:g.205679C>G, NG_009018.1:g.205679C>T, NW_025791803.1:g.374817C>G, NW_025791803.1:g.374817C>T, NM_002544.5:c.677G>C, NM_002544.5:c.677G>A, NM_002544.4:c.677G>C, NM_002544.4:c.677G>A, NP_002535.3:p.Arg226Thr, NP_002535.3:p.Arg226Lys

Select item 14884005224.

rs1488400522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31294945 (GRCh38)
17:29621963 (GRCh37)
Canonical SPDI:: NC_000017.11:31294944:G:A
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.31294945G>A, NC_000017.10:g.29621963G>A, NG_009018.1:g.204969G>A, NW_025791803.1:g.374107G>A, NM_002544.5:c.*64C>T, NM_002544.4:c.*64C>T

Select item 14876910095.

rs1487691009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:31295773 (GRCh38)
17:29622791 (GRCh37)
Canonical SPDI:: NC_000017.11:31295772:A:C
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31295773A>C, NC_000017.10:g.29622791A>C, NG_009018.1:g.205797A>C, NW_025791803.1:g.374935A>C, NM_002544.5:c.559T>G, NM_002544.4:c.559T>G, NP_002535.3:p.Leu187Val

Select item 14873780646.

rs1487378064 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31294802 (GRCh38)
17:29621820 (GRCh37)
Canonical SPDI:: NC_000017.11:31294801:A:G
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.31294802A>G, NC_000017.10:g.29621820A>G, NG_009018.1:g.204826A>G, NW_025791803.1:g.373964A>G, NM_002544.5:c.*207T>C, NM_002544.4:c.*207T>C

Select item 14851700617.

rs1485170061 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31298902 (GRCh38)
17:29625920 (GRCh37)
Canonical SPDI:: NC_000017.11:31298901:A:G
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.31298902A>G, NC_000017.10:g.29625920A>G, NG_009018.1:g.208926A>G, NW_025791803.1:g.378064A>G

Select item 14846187118.

rs1484618711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31295139 (GRCh38)
17:29622157 (GRCh37)
Canonical SPDI:: NC_000017.11:31295138:G:A
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000071/2 (TOMMO)
A=0.001092/2 (Korea1K)
HGVS:: NC_000017.11:g.31295139G>A, NC_000017.10:g.29622157G>A, NG_009018.1:g.205163G>A, NW_025791803.1:g.374301G>A, NM_002544.5:c.1193C>T, NM_002544.4:c.1193C>T, NP_002535.3:p.Thr398Ile

Select item 14834449779.

rs1483444977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31297177 (GRCh38)
17:29624195 (GRCh37)
Canonical SPDI:: NC_000017.11:31297176:A:G
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.31297177A>G, NC_000017.10:g.29624195A>G, NG_009018.1:g.207201A>G, NW_025791803.1:g.376339A>G, NM_002544.5:c.-28T>C, NM_002544.4:c.-28T>C

Select item 148322483110.

rs1483224831 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31298941 (GRCh38)
17:29625959 (GRCh37)
Canonical SPDI:: NC_000017.11:31298940:A:G
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.31298941A>G, NC_000017.10:g.29625959A>G, NG_009018.1:g.208965A>G, NW_025791803.1:g.378103A>G

Select item 148303155111.

rs1483031551 has merged into rs56983032 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AAA,AAAAA [Show Flanks]
Chromosome:: 17:31299347 (GRCh38)
17:29626365 (GRCh37)
Canonical SPDI:: NC_000017.11:31299342:AAAAAAAA:AAAA,NC_000017.11:31299342:AAAAAAAA:AAAAA,NC_000017.11:31299342:AAAAAAAA:AAAAAAA,NC_000017.11:31299342:AAAAAAAA:AAAAAAAAA
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.00022/1 (Estonian)
A=0.00879/44 (1000Genomes)
HGVS:: NC_000017.11:g.31299347_31299350del, NC_000017.11:g.31299348_31299350del, NC_000017.11:g.31299350del, NC_000017.11:g.31299350dup, NC_000017.10:g.29626365_29626368del, NC_000017.10:g.29626366_29626368del, NC_000017.10:g.29626368del, NC_000017.10:g.29626368dup, NG_009018.1:g.209371_209374del, NG_009018.1:g.209372_209374del, NG_009018.1:g.209374del, NG_009018.1:g.209374dup, NW_025791803.1:g.378509_378512del, NW_025791803.1:g.378510_378512del, NW_025791803.1:g.378512del, NW_025791803.1:g.378512dup

Select item 147941007112.

rs1479410071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31297626 (GRCh38)
17:29624644 (GRCh37)
Canonical SPDI:: NC_000017.11:31297625:A:G
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.31297626A>G, NC_000017.10:g.29624644A>G, NG_009018.1:g.207650A>G, NW_025791803.1:g.376788A>G

Select item 147851597213.

rs1478515972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:31294350 (GRCh38)
17:29621368 (GRCh37)
Canonical SPDI:: NC_000017.11:31294349:A:C
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_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.31294350A>C, NC_000017.10:g.29621368A>C, NG_009018.1:g.204374A>C, NW_025791803.1:g.373512A>C

Select item 147811386314.

rs1478113863 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:31296206 (GRCh38)
17:29623224 (GRCh37)
Canonical SPDI:: NC_000017.11:31296205:T:C
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.31296206T>C, NC_000017.10:g.29623224T>C, NG_009018.1:g.206230T>C, NW_025791803.1:g.375368T>C, NM_002544.5:c.126A>G, NM_002544.4:c.126A>G

Select item 147805140815.

rs1478051408 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:31298952 (GRCh38)
17:29625970 (GRCh37)
Canonical SPDI:: NC_000017.11:31298951:T:G
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.31298952T>G, NC_000017.10:g.29625970T>G, NG_009018.1:g.208976T>G, NW_025791803.1:g.378114T>G

Select item 147804459016.

rs1478044590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31296197 (GRCh38)
17:29623215 (GRCh37)
Canonical SPDI:: NC_000017.11:31296196:G:A
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31296197G>A, NC_000017.10:g.29623215G>A, NG_009018.1:g.206221G>A, NW_025791803.1:g.375359G>A, NM_002544.5:c.135C>T, NM_002544.4:c.135C>T

Select item 147797989217.

rs1477979892 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:31297672 (GRCh38)
17:29624690 (GRCh37)
Canonical SPDI:: NC_000017.11:31297671:T:C,NC_000017.11:31297671:T:G
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.31297672T>C, NC_000017.11:g.31297672T>G, NC_000017.10:g.29624690T>C, NC_000017.10:g.29624690T>G, NG_009018.1:g.207696T>C, NG_009018.1:g.207696T>G, NW_025791803.1:g.376834T>C, NW_025791803.1:g.376834T>G

Select item 147713458518.

rs1477134585 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:31298252 (GRCh38)
17:29625270 (GRCh37)
Canonical SPDI:: NC_000017.11:31298251:A:C
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.31298252A>C, NC_000017.10:g.29625270A>C, NG_009018.1:g.208276A>C, NW_025791803.1:g.377414A>C

Select item 147625182819.

rs1476251828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:31297399 (GRCh38)
17:29624417 (GRCh37)
Canonical SPDI:: NC_000017.11:31297398:T:G
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.31297399T>G, NC_000017.10:g.29624417T>G, NG_009018.1:g.207423T>G, NW_025791803.1:g.376561T>G

Select item 147602322520.

rs1476023225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:31294799 (GRCh38)
17:29621817 (GRCh37)
Canonical SPDI:: NC_000017.11:31294798:A:T
Gene:: NF1 (Varview), OMG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.31294799A>T, NC_000017.10:g.29621817A>T, NG_009018.1:g.204823A>T, NW_025791803.1:g.373961A>T, NM_002544.5:c.*210T>A, NM_002544.4:c.*210T>A

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