SNP Links for Gene (Select 10216) - SNP

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Select item 14915350891.

rs1491535089 has merged into rs33985418 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 1:186310145 (GRCh38)
1:186279277 (GRCh37)
Canonical SPDI:: NC_000001.11:186310135:GGGGGGGGGGGG:GGGGGGGGG,NC_000001.11:186310135:GGGGGGGGGGGG:GGGGGGGGGG,NC_000001.11:186310135:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000001.11:186310135:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000001.11:186310135:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000001.11:186310135:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000001.11:186310135:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000001.11:186310135:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG
Gene:: PRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
-=0.2602/1303 (1000Genomes)
HGVS:: NC_000001.11:g.186310145_186310147del, NC_000001.11:g.186310146_186310147del, NC_000001.11:g.186310147del, NC_000001.11:g.186310147dup, NC_000001.11:g.186310146_186310147dup, NC_000001.11:g.186310145_186310147dup, NC_000001.11:g.186310144_186310147dup, NC_000001.11:g.186310143_186310147dup, NC_000001.10:g.186279277_186279279del, NC_000001.10:g.186279278_186279279del, NC_000001.10:g.186279279del, NC_000001.10:g.186279279dup, NC_000001.10:g.186279278_186279279dup, NC_000001.10:g.186279277_186279279dup, NC_000001.10:g.186279276_186279279dup, NC_000001.10:g.186279275_186279279dup, NG_008248.2:g.18860_18862del, NG_008248.2:g.18861_18862del, NG_008248.2:g.18862del, NG_008248.2:g.18862dup, NG_008248.2:g.18861_18862dup, NG_008248.2:g.18860_18862dup, NG_008248.2:g.18859_18862dup, NG_008248.2:g.18858_18862dup, NG_023284.1:g.70188_70190del, NG_023284.1:g.70189_70190del, NG_023284.1:g.70190del, NG_023284.1:g.70190dup, NG_023284.1:g.70189_70190dup, NG_023284.1:g.70188_70190dup, NG_023284.1:g.70187_70190dup, NG_023284.1:g.70186_70190dup

Select item 14915027422.

rs1491502742 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:186310135 (GRCh38)
1:186279267 (GRCh37)
Canonical SPDI:: NC_000001.11:186310134:TG:
Gene:: PRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00887/5 (NorthernSweden)
-=0.00991/606 (GnomAD)
-=0.01002/161 (TOMMO)
-=0.01336/24 (Korea1K)
HGVS:: NC_000001.11:g.186310135_186310136del, NC_000001.10:g.186279267_186279268del, NG_008248.2:g.18850_18851del, NG_023284.1:g.70190_70191del

Select item 14907772593.

rs1490777259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:186303870 (GRCh38)
1:186273002 (GRCh37)
Canonical SPDI:: NC_000001.11:186303869:A:C
Gene:: PRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.186303870A>C, NC_000001.10:g.186273002A>C, NG_008248.2:g.12585A>C

Select item 14907071064.

rs1490707106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:186302679 (GRCh38)
1:186271811 (GRCh37)
Canonical SPDI:: NC_000001.11:186302678:C:T
Gene:: PRG4 (Varview)
Functional Consequence:: intron_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_000001.11:g.186302679C>T, NC_000001.10:g.186271811C>T, NG_008248.2:g.11394C>T

Select item 14906304065.

rs1490630406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:186297241 (GRCh38)
1:186266373 (GRCh37)
Canonical SPDI:: NC_000001.11:186297240:T:C
Gene:: PRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.186297241T>C, NC_000001.10:g.186266373T>C, NG_008248.2:g.5956T>C

Select item 14904920566.

rs1490492056 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:186310829 (GRCh38)
1:186279961 (GRCh37)
Canonical SPDI:: NC_000001.11:186310828:A:G
Gene:: PRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.186310829A>G, NC_000001.10:g.186279961A>G, NG_008248.2:g.19544A>G, NG_023284.1:g.69497T>C

Select item 14904667997.

rs1490466799 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:186311995 (GRCh38)
1:186281127 (GRCh37)
Canonical SPDI:: NC_000001.11:186311994:A:G
Gene:: TPR (Varview), PRG4 (Varview)
Functional Consequence:: 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_000001.11:g.186311995A>G, NC_000001.10:g.186281127A>G, NG_008248.2:g.20710A>G, NG_023284.1:g.68331T>C, NM_003292.3:c.*1976T>C, NM_003292.2:c.*1976T>C, NG_046325.1:g.34T>C

Select item 14901694118.

rs1490169411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:186310200 (GRCh38)
1:186279332 (GRCh37)
Canonical SPDI:: NC_000001.11:186310199:G:A
Gene:: PRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.186310200G>A, NC_000001.10:g.186279332G>A, NG_008248.2:g.18915G>A, NG_023284.1:g.70126C>T

Select item 14900087959.

rs1490008795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:186296593 (GRCh38)
1:186265725 (GRCh37)
Canonical SPDI:: NC_000001.11:186296592:T:C
Gene:: PRG4 (Varview)
Functional Consequence:: 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_000001.11:g.186296593T>C, NC_000001.10:g.186265725T>C, NG_008248.2:g.5308T>C

Select item 148911498510.

rs1489114985 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:186294868 (GRCh38)
1:186264000 (GRCh37)
Canonical SPDI:: NC_000001.11:186294867:T:G
Gene:: PRG4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000162/3 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.186294868T>G, NC_000001.10:g.186264000T>G, NG_008248.2:g.3583T>G

Select item 148863465711.

rs1488634657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:186309429 (GRCh38)
1:186278561 (GRCh37)
Canonical SPDI:: NC_000001.11:186309428:A:G
Gene:: PRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.186309429A>G, NC_000001.10:g.186278561A>G, NG_008248.2:g.18144A>G

Select item 148856262212.

rs1488562622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:186307660 (GRCh38)
1:186276792 (GRCh37)
Canonical SPDI:: NC_000001.11:186307659:G:A
Gene:: PRG4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.186307660G>A, NC_000001.10:g.186276792G>A, NG_008248.2:g.16375G>A, NM_005807.6:c.1941G>A, NM_005807.5:c.1941G>A, NM_005807.4:c.1941G>A, NM_005807.3:c.1941G>A, NM_001127708.3:c.1818G>A, NM_001127708.2:c.1818G>A, NM_001127708.1:c.1818G>A, NM_001127709.3:c.1662G>A, NM_001127709.2:c.1662G>A, NM_001127709.1:c.1662G>A, NM_001127710.3:c.1539G>A, NM_001127710.2:c.1539G>A, NM_001127710.1:c.1539G>A, NM_001303232.2:c.1812G>A, NM_001303232.1:c.1812G>A

Select item 148853619013.

rs1488536190 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:186301870 (GRCh38)
1:186271002 (GRCh37)
Canonical SPDI:: NC_000001.11:186301869:A:C
Gene:: PRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.186301870A>C, NC_000001.10:g.186271002A>C, NG_008248.2:g.10585A>C

Select item 148839415414.

rs1488394154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:186302300 (GRCh38)
1:186271432 (GRCh37)
Canonical SPDI:: NC_000001.11:186302299:A:G
Gene:: PRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.186302300A>G, NC_000001.10:g.186271432A>G, NG_008248.2:g.11015A>G

Select item 148834436015.

rs1488344360 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:186305292 (GRCh38)
1:186274424 (GRCh37)
Canonical SPDI:: NC_000001.11:186305291:T:C
Gene:: PRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.186305292T>C, NC_000001.10:g.186274424T>C, NG_008248.2:g.14007T>C

Select item 148817497716.

rs1488174977 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTAAGGAGCCTGCTCCAACTACCCCTAAGGGGACTGCTCCAACTACCC [Show Flanks]
Chromosome:: 1:186308012 (GRCh38)
1:186277145 (GRCh37)
Canonical SPDI:: NC_000001.11:186308012:CTGCTCCAACTACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGGGACTGCTCCAACTACCC:CTGCTCCAACTACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGGGACTGCTCCAACTACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGGGACTGCTCCAACTACCC
Gene:: PRG4 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.186308028_186308075dup, NC_000001.10:g.186277160_186277207dup, NG_008248.2:g.16743_16790dup, NM_005807.6:c.2309_2356dup, NM_005807.5:c.2309_2356dup, NM_005807.4:c.2309_2356dup, NM_005807.3:c.2309_2356dup, NM_001127708.3:c.2186_2233dup, NM_001127708.2:c.2186_2233dup, NM_001127708.1:c.2186_2233dup, NM_001127709.3:c.2030_2077dup, NM_001127709.2:c.2030_2077dup, NM_001127709.1:c.2030_2077dup, NM_001127710.3:c.1907_1954dup, NM_001127710.2:c.1907_1954dup, NM_001127710.1:c.1907_1954dup, NM_001303232.2:c.2180_2227dup, NM_001303232.1:c.2180_2227dup, NP_005798.3:p.Pro770_Thr785dup, NP_001121180.2:p.Pro729_Thr744dup, NP_001121181.2:p.Pro677_Thr692dup, NP_001121182.2:p.Pro636_Thr651dup, NP_001290161.1:p.Pro727_Thr742dup

Select item 148796848017.

rs1487968480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:186301459 (GRCh38)
1:186270591 (GRCh37)
Canonical SPDI:: NC_000001.11:186301458:C:A,NC_000001.11:186301458:C:T
Gene:: PRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.186301459C>A, NC_000001.11:g.186301459C>T, NC_000001.10:g.186270591C>A, NC_000001.10:g.186270591C>T, NG_008248.2:g.10174C>A, NG_008248.2:g.10174C>T

Select item 148785414718.

rs1487854147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:186314586 (GRCh38)
1:186283718 (GRCh37)
Canonical SPDI:: NC_000001.11:186314585:A:G
Gene:: TPR (Varview), PRG4 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.186314586A>G, NC_000001.10:g.186283718A>G, NG_008248.2:g.23301A>G, NG_023284.1:g.65740T>C

Select item 148779022419.

rs1487790224 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTCT [Show Flanks]
Chromosome:: 1:186297677 (GRCh38)
1:186266810 (GRCh37)
Canonical SPDI:: NC_000001.11:186297677:T:TATTCT
Gene:: PRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATTCT=0./0 (ALFA)
HGVS:: NC_000001.11:g.186297678_186297679insATTCT, NC_000001.10:g.186266810_186266811insATTCT, NG_008248.2:g.6393_6394insATTCT

Select item 148764547820.

rs1487645478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:186312623 (GRCh38)
1:186281755 (GRCh37)
Canonical SPDI:: NC_000001.11:186312622:C:G
Gene:: TPR (Varview), PRG4 (Varview)
Functional Consequence:: 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_000001.11:g.186312623C>G, NC_000001.10:g.186281755C>G, NG_008248.2:g.21338C>G, NG_023284.1:g.67703G>C, NM_003292.3:c.*1348G>C, NM_003292.2:c.*1348G>C

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