SNP Links for Gene (Select 4007) - SNP

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: X:49181531 (GRCh38)
X:49037978 (GRCh37)
Canonical SPDI:: NC_000023.11:49181527:TGTGT:TGT
Gene:: PRICKLE3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0.000253/3 (ALFA)
-=0.000035/3 (GnomAD)
-=0.000072/19 (TOPMED)
HGVS:: NC_000023.11:g.49181529GT[1], NW_004070880.2:g.1420958GT[1], NG_017135.2:g.9842CA[1], NC_000023.10:g.49037975_49037976inv, NC_000023.10:g.49037975_49037976del

Select item 14911499406.

rs1491149940 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: X:49181551 (GRCh38)
X:49038000 (GRCh37)
Canonical SPDI:: NC_000023.11:49181547:TGTGT:TGT
Gene:: PRICKLE3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
-=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.49181549GT[1], NW_004070880.2:g.1420978GT[1], NG_017135.2:g.9822CA[1], NG_017135.1:g.9778_9780delinsCAC, NG_017135.1:g.9778_9780delinsC, NC_000023.10:g.49037997_49037999delinsGTG, NC_000023.10:g.49037997_49037999delinsG

Select item 14911333547.

rs1491133354 has merged into rs200730422 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT [Show Flanks]
Chromosome:: X:49174442 (GRCh38)
X:49030789 (GRCh37)
Canonical SPDI:: NC_000023.11:49174429:GTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000023.11:49174429:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000023.11:49174429:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT
Gene:: PRICKLE3 (Varview), PLP2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0.001052/10 (ALFA)
-=0.000663/80 (GnomAD_exomes)
HGVS:: NC_000023.11:g.49174430GT[6], NC_000023.11:g.49174430GT[8], NC_000023.11:g.49174430GT[9], NW_004070880.2:g.1413859GT[6], NW_004070880.2:g.1413859GT[8], NW_004070880.2:g.1413859GT[9], NG_017135.2:g.16930AC[6], NG_017135.2:g.16930AC[8], NG_017135.2:g.16930AC[9], NG_017135.1:g.16985AC[7], NG_017135.1:g.16985AC[9], NG_017135.1:g.16985AC[10], NG_016420.2:g.7534GT[6], NG_016420.2:g.7534GT[8], NG_016420.2:g.7534GT[9], NG_016420.1:g.7594GT[7], NG_016420.1:g.7594GT[9], NG_016420.1:g.7594GT[10], NC_000023.10:g.49030777GT[7], NC_000023.10:g.49030777GT[9], NC_000023.10:g.49030777GT[10]

Select item 14909668408.

rs1490966840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49177183 (GRCh38)
X:49033532 (GRCh37)
Canonical SPDI:: NC_000023.11:49177182:C:T
Gene:: PRICKLE3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49177183C>T, NW_004070880.2:g.1416612C>T, NG_017135.2:g.14190G>A, NG_017135.1:g.14245G>A, NM_006150.5:c.975G>A, NM_006150.4:c.975G>A, NM_006150.3:c.975G>A, NM_001307979.2:c.771G>A, NM_001307979.1:c.771G>A, NG_016420.2:g.10287C>T, NC_000023.10:g.49033532C>T, NP_006141.2:p.Met325Ile, NP_001294908.1:p.Met257Ile

Select item 14906808489.

rs1490680848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:49186392 (GRCh38)
X:49042845 (GRCh37)
Canonical SPDI:: NC_000023.11:49186391:C:G,NC_000023.11:49186391:C:T
Gene:: PRICKLE3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/1 (GnomAD)
HGVS:: NC_000023.11:g.49186392C>G, NC_000023.11:g.49186392C>T, NW_004070880.2:g.1425821C>G, NW_004070880.2:g.1425821C>T, NG_017135.2:g.4981G>C, NG_017135.2:g.4981G>A, NG_017135.1:g.4932G>C, NG_017135.1:g.4932G>A, NG_070990.1:g.361C>G, NG_070990.1:g.361C>T, NG_012532.1:g.18817G>C, NG_012532.1:g.18817G>A, NC_000023.10:g.49042845C>G, NC_000023.10:g.49042845C>T, NM_006150.4:c.-95G>C, NM_006150.4:c.-95G>A

Select item 149026243510.

rs1490262435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:49179339 (GRCh38)
X:49035688 (GRCh37)
Canonical SPDI:: NC_000023.11:49179338:G:C
Gene:: PRICKLE3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.49179339G>C, NW_004070880.2:g.1418768G>C, NG_017135.2:g.12034C>G, NG_017135.1:g.12089C>G, NM_006150.5:c.476C>G, NM_006150.4:c.476C>G, NM_006150.3:c.476C>G, NM_001307979.2:c.272C>G, NM_001307979.1:c.272C>G, NC_000023.10:g.49035688G>C, NP_006141.2:p.Ala159Gly, NP_001294908.1:p.Ala91Gly

Select item 148986514011.

rs1489865140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49187030 (GRCh38)
X:49043483 (GRCh37)
Canonical SPDI:: NC_000023.11:49187029:T:C
Gene:: PRICKLE3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.49187030T>C, NW_004070880.2:g.1426459T>C, NG_017135.2:g.4343A>G, NG_017135.1:g.4294A>G, NG_012532.1:g.18179A>G, NC_000023.10:g.49043483T>C

Select item 148977100612.

rs1489771006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49175806 (GRCh38)
X:49032155 (GRCh37)
Canonical SPDI:: NC_000023.11:49175805:G:A
Gene:: PRICKLE3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.49175806G>A, NW_004070880.2:g.1415235G>A, NG_017135.2:g.15567C>T, NG_017135.1:g.15622C>T, NM_006150.5:c.1715C>T, NM_006150.4:c.1715C>T, NM_006150.3:c.1715C>T, NM_001307979.2:c.1511C>T, NM_001307979.1:c.1511C>T, NG_016420.2:g.8910G>A, NG_016420.1:g.8972G>A, NC_000023.10:g.49032155G>A, NP_006141.2:p.Pro572Leu, NP_001294908.1:p.Pro504Leu

Select item 148909742213.

rs1489097422 has merged into rs150588040 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:49180045 (GRCh38)
X:49036394 (GRCh37)
Canonical SPDI:: NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:49180035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRICKLE3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.3295/1244 (1000Genomes)
HGVS:: NC_000023.11:g.49180045_49180057del, NC_000023.11:g.49180047_49180057del, NC_000023.11:g.49180048_49180057del, NC_000023.11:g.49180049_49180057del, NC_000023.11:g.49180050_49180057del, NC_000023.11:g.49180051_49180057del, NC_000023.11:g.49180052_49180057del, NC_000023.11:g.49180053_49180057del, NC_000023.11:g.49180054_49180057del, NC_000023.11:g.49180055_49180057del, NC_000023.11:g.49180056_49180057del, NC_000023.11:g.49180057del, NC_000023.11:g.49180057dup, NC_000023.11:g.49180056_49180057dup, NC_000023.11:g.49180055_49180057dup, NC_000023.11:g.49180054_49180057dup, NC_000023.11:g.49180053_49180057dup, NC_000023.11:g.49180052_49180057dup, NC_000023.11:g.49180051_49180057dup, NC_000023.11:g.49180050_49180057dup, NC_000023.11:g.49180049_49180057dup, NC_000023.11:g.49180057_49180058insTTTTTTTTTTTTTTTTTTTTTTT, NW_004070880.2:g.1419474_1419486del, NW_004070880.2:g.1419476_1419486del, NW_004070880.2:g.1419477_1419486del, NW_004070880.2:g.1419478_1419486del, NW_004070880.2:g.1419479_1419486del, NW_004070880.2:g.1419480_1419486del, NW_004070880.2:g.1419481_1419486del, NW_004070880.2:g.1419482_1419486del, NW_004070880.2:g.1419483_1419486del, NW_004070880.2:g.1419484_1419486del, NW_004070880.2:g.1419485_1419486del, NW_004070880.2:g.1419486del, NW_004070880.2:g.1419486dup, NW_004070880.2:g.1419485_1419486dup, NW_004070880.2:g.1419484_1419486dup, NW_004070880.2:g.1419483_1419486dup, NW_004070880.2:g.1419482_1419486dup, NW_004070880.2:g.1419481_1419486dup, NW_004070880.2:g.1419480_1419486dup, NW_004070880.2:g.1419479_1419486dup, NW_004070880.2:g.1419478_1419486dup, NW_004070880.2:g.1419486_1419487insTTTTTTTTTTTTTTTTTTTTTTT, NG_017135.2:g.11325_11337del, NG_017135.2:g.11327_11337del, NG_017135.2:g.11328_11337del, NG_017135.2:g.11329_11337del, NG_017135.2:g.11330_11337del, NG_017135.2:g.11331_11337del, NG_017135.2:g.11332_11337del, NG_017135.2:g.11333_11337del, NG_017135.2:g.11334_11337del, NG_017135.2:g.11335_11337del, NG_017135.2:g.11336_11337del, NG_017135.2:g.11337del, NG_017135.2:g.11337dup, NG_017135.2:g.11336_11337dup, NG_017135.2:g.11335_11337dup, NG_017135.2:g.11334_11337dup, NG_017135.2:g.11333_11337dup, NG_017135.2:g.11332_11337dup, NG_017135.2:g.11331_11337dup, NG_017135.2:g.11330_11337dup, NG_017135.2:g.11329_11337dup, NG_017135.2:g.11337_11338insAAAAAAAAAAAAAAAAAAAAAAA, NG_017135.1:g.11380_11392del, NG_017135.1:g.11382_11392del, NG_017135.1:g.11383_11392del, NG_017135.1:g.11384_11392del, NG_017135.1:g.11385_11392del, NG_017135.1:g.11386_11392del, NG_017135.1:g.11387_11392del, NG_017135.1:g.11388_11392del, NG_017135.1:g.11389_11392del, NG_017135.1:g.11390_11392del, NG_017135.1:g.11391_11392del, NG_017135.1:g.11392del, NG_017135.1:g.11392dup, NG_017135.1:g.11391_11392dup, NG_017135.1:g.11390_11392dup, NG_017135.1:g.11389_11392dup, NG_017135.1:g.11388_11392dup, NG_017135.1:g.11387_11392dup, NG_017135.1:g.11386_11392dup, NG_017135.1:g.11385_11392dup, NG_017135.1:g.11384_11392dup, NG_017135.1:g.11370_11392dup, NC_000023.10:g.49036395_49036407del, NC_000023.10:g.49036397_49036407del, NC_000023.10:g.49036398_49036407del, NC_000023.10:g.49036399_49036407del, NC_000023.10:g.49036400_49036407del, NC_000023.10:g.49036401_49036407del, NC_000023.10:g.49036402_49036407del, NC_000023.10:g.49036403_49036407del, NC_000023.10:g.49036404_49036407del, NC_000023.10:g.49036405_49036407del, NC_000023.10:g.49036406_49036407del, NC_000023.10:g.49036407del, NC_000023.10:g.49036407dup, NC_000023.10:g.49036406_49036407dup, NC_000023.10:g.49036405_49036407dup, NC_000023.10:g.49036404_49036407dup, NC_000023.10:g.49036403_49036407dup, NC_000023.10:g.49036402_49036407dup, NC_000023.10:g.49036401_49036407dup, NC_000023.10:g.49036400_49036407dup, NC_000023.10:g.49036399_49036407dup, NC_000023.10:g.49036385_49036407dup

Select item 148904528714.

rs1489045287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49181379 (GRCh38)
X:49037826 (GRCh37)
Canonical SPDI:: NC_000023.11:49181378:T:C
Gene:: PRICKLE3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.49181379T>C, NW_004070880.2:g.1420808T>C, NG_017135.2:g.9994A>G, NG_017135.1:g.9951A>G, NC_000023.10:g.49037826T>C

Select item 148745913915.

rs1487459139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49180574 (GRCh38)
X:49036924 (GRCh37)
Canonical SPDI:: NC_000023.11:49180573:C:T
Gene:: PRICKLE3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.49180574C>T, NW_004070880.2:g.1420003C>T, NG_017135.2:g.10799G>A, NG_017135.1:g.10853G>A, NC_000023.10:g.49036924C>T

Select item 148740852016.

rs1487408520 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC [Show Flanks]
Chromosome:: X:49181550 (GRCh38)
X:49037999 (GRCh37)
Canonical SPDI:: NC_000023.11:49181550::AC
Gene:: PRICKLE3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AC=0./0 (ALFA)
HGVS:: NC_000023.11:g.49181550_49181551insAC, NW_004070880.2:g.1420979_1420980insAC, NG_017135.2:g.9822_9823insGT, NG_017135.1:g.9778_9779insGT, NC_000023.10:g.49037999_49038000insCA

Select item 148734405717.

rs1487344057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49184389 (GRCh38)
X:49040842 (GRCh37)
Canonical SPDI:: NC_000023.11:49184388:G:A
Gene:: PRICKLE3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.49184389G>A, NW_004070880.2:g.1423818G>A, NG_017135.2:g.6984C>T, NG_017135.1:g.6935C>T, NG_070989.1:g.218G>A, NC_000023.10:g.49040842G>A

Select item 148675977018.

rs1486759770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49181986 (GRCh38)
X:49038442 (GRCh37)
Canonical SPDI:: NC_000023.11:49181985:G:A
Gene:: PRICKLE3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00002/2 (GnomAD)
A=0.00103/3 (KOREAN)
HGVS:: NC_000023.11:g.49181986G>A, NW_004070880.2:g.1421415G>A, NG_017135.2:g.9387C>T, NG_017135.1:g.9335C>T, NC_000023.10:g.49038442G>A