SNP Links for Gene (Select 8200) - SNP

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Select item 14914804221.

rs1491480422 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:35448469 (GRCh38)
20:34036282 (GRCh37)
Canonical SPDI:: NC_000020.11:35448469:G:GG
Gene:: GDF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000061/8 (GnomAD)
G=0.000142/4 (TOMMO)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000020.11:g.35448470dup, NC_000020.10:g.34036282dup, NG_008076.3:g.11277dup

Select item 14914546712.

rs1491454671 has merged into rs750856510 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 20:35451594 (GRCh38)
20:34039416 (GRCh37)
Canonical SPDI:: NC_000020.11:35451582:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:35451582:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:35451582:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:35451582:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:35451582:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:35451582:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:35451582:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: GDF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.005/3 (NorthernSweden)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000020.11:g.35451594_35451597del, NC_000020.11:g.35451595_35451597del, NC_000020.11:g.35451596_35451597del, NC_000020.11:g.35451597del, NC_000020.11:g.35451597dup, NC_000020.11:g.35451596_35451597dup, NC_000020.11:g.35451594_35451597dup, NC_000020.10:g.34039416_34039419del, NC_000020.10:g.34039417_34039419del, NC_000020.10:g.34039418_34039419del, NC_000020.10:g.34039419del, NC_000020.10:g.34039419dup, NC_000020.10:g.34039418_34039419dup, NC_000020.10:g.34039416_34039419dup, NG_008076.3:g.8161_8164del, NG_008076.3:g.8162_8164del, NG_008076.3:g.8163_8164del, NG_008076.3:g.8164del, NG_008076.3:g.8164dup, NG_008076.3:g.8163_8164dup, NG_008076.3:g.8161_8164dup, NG_051604.1:g.1457_1460del, NG_051604.1:g.1458_1460del, NG_051604.1:g.1459_1460del, NG_051604.1:g.1460del, NG_051604.1:g.1460dup, NG_051604.1:g.1459_1460dup, NG_051604.1:g.1457_1460dup

Select item 14913525043.

rs1491352504 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:35451582 (GRCh38)
20:34039404 (GRCh37)
Canonical SPDI:: NC_000020.11:35451581:CT:
Gene:: GDF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000020.11:g.35451582_35451583del, NC_000020.10:g.34039404_34039405del, NG_008076.3:g.8164_8165del, NG_051604.1:g.1445_1446del

Select item 14913232194.

rs1491323219 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 20:35448470 (GRCh38)
20:34036282 (GRCh37)
Canonical SPDI:: NC_000020.11:35448468:TGT:T
Gene:: GDF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.35448470_35448471del, NC_000020.10:g.34036282_34036283del, NG_008076.3:g.11277_11278del

Select item 14910387645.

rs1491038764 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 20:35455119 (GRCh38)
20:34042940 (GRCh37)
Canonical SPDI:: NC_000020.11:35455117:GCG:G
Gene:: GDF5 (Varview), CEP250 (Varview), MIR1289-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.35455119_35455120del, NC_000020.10:g.34042940_34042941del, NG_008076.3:g.4628_4629del, NG_051604.1:g.4982_4983del

Select item 14905833426.

rs1490583342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:35452074 (GRCh38)
20:34039896 (GRCh37)
Canonical SPDI:: NC_000020.11:35452073:G:A
Gene:: GDF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.35452074G>A, NC_000020.10:g.34039896G>A, NG_008076.3:g.7673C>T, NG_051604.1:g.1937G>A

Select item 14903795567.

rs1490379556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:35444981 (GRCh38)
20:34032789 (GRCh37)
Canonical SPDI:: NC_000020.11:35444980:G:A
Gene:: GDF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.35444981G>A, NC_000020.10:g.34032789G>A, NG_008076.3:g.14766C>T

Select item 14900350938.

rs1490035093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:35443040 (GRCh38)
20:34030848 (GRCh37)
Canonical SPDI:: NC_000020.11:35443039:T:C
Gene:: GDF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.35443040T>C, NC_000020.10:g.34030848T>C, NG_008076.3:g.16707A>G

Select item 14897373839.

rs1489737383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 20:35451064 (GRCh38)
20:34038886 (GRCh37)
Canonical SPDI:: NC_000020.11:35451063:A:C,NC_000020.11:35451063:A:G,NC_000020.11:35451063:A:T
Gene:: GDF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.27959/15985 (GnomAD)
A=0.4376/11516 (TOMMO)
HGVS:: NC_000020.11:g.35451064A>C, NC_000020.11:g.35451064A>G, NC_000020.11:g.35451064A>T, NC_000020.10:g.34038886T>A, NC_000020.10:g.34038886T>C, NC_000020.10:g.34038886T>G, NG_008076.3:g.8683T>G, NG_008076.3:g.8683T>C, NG_008076.3:g.8683T>A, NG_051604.1:g.927A>C, NG_051604.1:g.927A>G, NG_051604.1:g.927A>T

Select item 148969633110.

rs1489696331 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:35451162 (GRCh38)
20:34038984 (GRCh37)
Canonical SPDI:: NC_000020.11:35451161:T:A
Gene:: GDF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.35451162T>A, NC_000020.10:g.34038984T>A, NG_008076.3:g.8585A>T, NG_051604.1:g.1025T>A

Select item 148960536211.

rs1489605362 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:35448429 (GRCh38)
20:34036240 (GRCh37)
Canonical SPDI:: NC_000020.11:35448428:T:G
Gene:: GDF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.35448429T>G, NC_000020.10:g.34036240T>G, NG_008076.3:g.11318A>C

Select item 148955655312.

rs1489556553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:35446881 (GRCh38)
20:34034689 (GRCh37)
Canonical SPDI:: NC_000020.11:35446880:A:C
Gene:: GDF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.35446881A>C, NC_000020.10:g.34034689A>C, NG_008076.3:g.12866T>G

Select item 148940900213.

rs1489409002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:35449970 (GRCh38)
20:34037781 (GRCh37)
Canonical SPDI:: NC_000020.11:35449969:A:C
Gene:: GDF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.35449970A>C, NC_000020.10:g.34037781A>C, NG_008076.3:g.9777T>G

Select item 148934621614.

rs1489346216 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:35447543 (GRCh38)
20:34035353 (GRCh37)
Canonical SPDI:: NC_000020.11:35447542:T:C
Gene:: GDF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000043/6 (GnomAD)
C=0.000045/12 (TOPMED)
HGVS:: NC_000020.11:g.35447543T>C, NC_000020.10:g.34035353T>C, NG_008076.3:g.12204A>G

Select item 148914223015.

rs1489142230 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 20:35450776 (GRCh38)
20:34038587 (GRCh37)
Canonical SPDI:: NC_000020.11:35450775:A:C,NC_000020.11:35450775:A:G
Gene:: GDF5 (Varview)
Functional Consequence:: genic_upstream_transcript_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_000020.11:g.35450776A>C, NC_000020.11:g.35450776A>G, NC_000020.10:g.34038587A>C, NC_000020.10:g.34038587A>G, NG_008076.3:g.8971T>G, NG_008076.3:g.8971T>C, NG_051604.1:g.639A>C, NG_051604.1:g.639A>G

Select item 148903910616.

rs1489039106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:35454476 (GRCh38)
20:34042298 (GRCh37)
Canonical SPDI:: NC_000020.11:35454475:C:T
Gene:: GDF5 (Varview), CEP250 (Varview), MIR1289-1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.35454476C>T, NC_000020.10:g.34042298C>T, NG_008076.3:g.5271G>A, NG_051604.1:g.4339C>T

Select item 148901136717.

rs1489011367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:35433128 (GRCh38)
20:34020926 (GRCh37)
Canonical SPDI:: NC_000020.11:35433127:C:T
Gene:: GDF5 (Varview), GDF5-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_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)
HGVS:: NC_000020.11:g.35433128C>T, NC_000020.10:g.34020926C>T, NG_008076.3:g.26619G>A, NM_001355428.1:c.-343C>T, NM_001350519.1:c.25C>T, NR_161326.1:n.100C>T

Select item 148895405318.

rs1488954053 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:35447960 (GRCh38)
20:34035772 (GRCh37)
Canonical SPDI:: NC_000020.11:35447960::T
Gene:: GDF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000057/15 (TOPMED)
HGVS:: NC_000020.11:g.35447960_35447961insT, NC_000020.10:g.34035771_34035772insT, NG_008076.3:g.11786_11787insA

Select item 148890611319.

rs1488906113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:35433135 (GRCh38)
20:34020933 (GRCh37)
Canonical SPDI:: NC_000020.11:35433134:C:A
Gene:: GDF5 (Varview), GDF5-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.35433135C>A, NC_000020.10:g.34020933C>A, NG_008076.3:g.26612G>T, NM_001355428.1:c.-336C>A, NM_001350519.1:c.32C>A, NR_161326.1:n.107C>A

Select item 148888670020.

rs1488886700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:35436256 (GRCh38)
20:34024036 (GRCh37)
Canonical SPDI:: NC_000020.11:35436255:C:T
Gene:: GDF5 (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_000020.11:g.35436256C>T, NC_000020.10:g.34024036C>T, NG_008076.3:g.23491G>A

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