SNP Links for Nucleotide (Select 187940264) - SNP

Links from Nucleotide

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Select item 14915565571.

rs1491556557 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 9:95510742 (GRCh38)
9:98273024 (GRCh37)
Canonical SPDI:: NC_000009.12:95510740:AGA:A
Gene:: PTCH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
-=0.00008/11 (GnomAD)
HGVS:: NC_000009.12:g.95510742_95510743del, NC_000009.11:g.98273024_98273025del, NG_007664.1:g.11224_11225del

Select item 14915093692.

rs1491509369 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGACAC [Show Flanks]
Chromosome:: 9:95490520 (GRCh38)
9:98252803 (GRCh37)
Canonical SPDI:: NC_000009.12:95490520:AC:ACTGACAC
Gene:: PTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACTGACAC=0./0 (ALFA)
ACTGAC=0.000004/1 (TOPMED)
ACTGAC=0.000008/1 (GnomAD)
HGVS:: NC_000009.12:g.95490522_95490523insTGACAC, NC_000009.11:g.98252804_98252805insTGACAC, NG_007664.1:g.31444_31445GT[2]CAGT[1]

Select item 14915027803.

rs1491502780 has merged into rs962367211 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTG>-,TG,TGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 9:95508054 (GRCh38)
9:98270336 (GRCh37)
Canonical SPDI:: NC_000009.12:95508042:GTGTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000009.12:95508042:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000009.12:95508042:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000009.12:95508042:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000009.12:95508042:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000009.12:95508042:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:95508042:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: PTCH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTG=0./0 (ALFA)
-=0.00171/1 (NorthernSweden)
HGVS:: NC_000009.12:g.95508044TG[5], NC_000009.12:g.95508044TG[6], NC_000009.12:g.95508044TG[7], NC_000009.12:g.95508044TG[9], NC_000009.12:g.95508044TG[10], NC_000009.12:g.95508044TG[11], NC_000009.12:g.95508044TG[12], NC_000009.11:g.98270326TG[5], NC_000009.11:g.98270326TG[6], NC_000009.11:g.98270326TG[7], NC_000009.11:g.98270326TG[9], NC_000009.11:g.98270326TG[10], NC_000009.11:g.98270326TG[11], NC_000009.11:g.98270326TG[12], NG_007664.1:g.13908AC[5], NG_007664.1:g.13908AC[6], NG_007664.1:g.13908AC[7], NG_007664.1:g.13908AC[9], NG_007664.1:g.13908AC[10], NG_007664.1:g.13908AC[11], NG_007664.1:g.13908AC[12]

Select item 14914767224.

rs1491476722 has merged into rs796250728 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 9:95472108 (GRCh38)
9:98234390 (GRCh37)
Canonical SPDI:: NC_000009.12:95472105:AGAG:AG
Gene:: PTCH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.045587/843 (ALFA)
-=0.010248/38 (TWINSUK)
-=0.011667/7 (NorthernSweden)
-=0.014011/54 (ALSPAC)
-=0.01583/70 (Estonian)
-=0.025/1 (GENOME_DK)
-=0.072762/10166 (GnomAD)
-=0.07859/20802 (TOPMED)
-=0.11/22 (Vietnamese)
AG=0.112821/66 (1000Genomes)
-=0.119435/2002 (TOMMO)
-=0.121725/223 (Korea1K)
HGVS:: NC_000009.12:g.95472106AG[1], NC_000009.11:g.98234388AG[1], NG_007664.1:g.49857CT[1]

Select item 14914698345.

rs1491469834 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCACACACACAC [Show Flanks]
Chromosome:: 9:95452329 (GRCh38)
9:98214612 (GRCh37)
Canonical SPDI:: NC_000009.12:95452329:CACACACACAC:CACACACACACCCACACACACAC
Gene:: PTCH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACCCACACACACAC=0./0 (ALFA)
CACACACACACC=0.000004/1 (TOPMED)
CACACACACACC=0.000035/1 (GnomAD)
HGVS:: NC_000009.12:g.95452330_95452340CA[5]CCCACACACACAC[1], NC_000009.11:g.98214612_98214622CA[5]CCCACACACACAC[1], NG_007664.1:g.69626_69636GT[5]GGGTGTGTGTGTG[1]

Select item 14914576206.

rs1491457620 has merged into rs113161410 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:95472105 (GRCh38)
9:98234388 (GRCh37)
Canonical SPDI:: NC_000009.12:95472105:A:AA
Gene:: PTCH1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.011977/221 (ALFA)
A=0.006682/29 (Estonian)
A=0.010869/2877 (TOPMED)
A=0.010963/1532 (GnomAD)
A=0.011667/7 (NorthernSweden)
A=0.016087/62 (ALSPAC)
A=0.016721/62 (TWINSUK)
A=0.023781/399 (TOMMO)
A=0.053191/10 (Vietnamese)
HGVS:: NC_000009.12:g.95472106dup, NC_000009.11:g.98234388dup, NG_007664.1:g.49860dup

Select item 14914349277.

rs1491434927 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GGG [Show Flanks]
Chromosome:: 9:95514621 (GRCh38)
9:98276903 (GRCh37)
Canonical SPDI:: NC_000009.12:95514620:GG:G,NC_000009.12:95514620:GG:GGGG
Gene:: PTCH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0.000066/1 (ALFA)
GG=0.000178/21 (GnomAD)
HGVS:: NC_000009.12:g.95514622del, NC_000009.12:g.95514621_95514622dup, NC_000009.11:g.98276904del, NC_000009.11:g.98276903_98276904dup, NG_007664.1:g.7345del, NG_007664.1:g.7344_7345dup

Select item 14914242308.

rs1491424230 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:95473543 (GRCh38)
9:98235826 (GRCh37)
Canonical SPDI:: NC_000009.12:95473543::A
Gene:: PTCH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00002/1 (GnomAD)
HGVS:: NC_000009.12:g.95473543_95473544insA, NC_000009.11:g.98235825_98235826insA, NG_007664.1:g.48422_48423insT

Select item 14914112159.

rs1491411215 has merged into rs139956254 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC [Show Flanks]
Chromosome:: 9:95507908 (GRCh38)
9:98270190 (GRCh37)
Canonical SPDI:: NC_000009.12:95507905:ACACACACACACAC:AC,NC_000009.12:95507905:ACACACACACACAC:ACAC,NC_000009.12:95507905:ACACACACACACAC:ACACAC,NC_000009.12:95507905:ACACACACACACAC:ACACACAC,NC_000009.12:95507905:ACACACACACACAC:ACACACACAC,NC_000009.12:95507905:ACACACACACACAC:ACACACACACAC,NC_000009.12:95507905:ACACACACACACAC:ACACACACACACACAC,NC_000009.12:95507905:ACACACACACACAC:ACACACACACACACACAC,NC_000009.12:95507905:ACACACACACACAC:ACACACACACACACACACAC,NC_000009.12:95507905:ACACACACACACAC:ACACACACACACACACACACAC
Gene:: PTCH1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
ACAC=0.31669/1586 (1000Genomes)
HGVS:: NC_000009.12:g.95507906AC[1], NC_000009.12:g.95507906AC[2], NC_000009.12:g.95507906AC[3], NC_000009.12:g.95507906AC[4], NC_000009.12:g.95507906AC[5], NC_000009.12:g.95507906AC[6], NC_000009.12:g.95507906AC[8], NC_000009.12:g.95507906AC[9], NC_000009.12:g.95507906AC[10], NC_000009.12:g.95507906AC[11], NC_000009.11:g.98270188AC[1], NC_000009.11:g.98270188AC[2], NC_000009.11:g.98270188AC[3], NC_000009.11:g.98270188AC[4], NC_000009.11:g.98270188AC[5], NC_000009.11:g.98270188AC[6], NC_000009.11:g.98270188AC[8], NC_000009.11:g.98270188AC[9], NC_000009.11:g.98270188AC[10], NC_000009.11:g.98270188AC[11], NG_007664.1:g.14047GT[1], NG_007664.1:g.14047GT[2], NG_007664.1:g.14047GT[3], NG_007664.1:g.14047GT[4], NG_007664.1:g.14047GT[5], NG_007664.1:g.14047GT[6], NG_007664.1:g.14047GT[8], NG_007664.1:g.14047GT[9], NG_007664.1:g.14047GT[10], NG_007664.1:g.14047GT[11]

Select item 149136408710.

rs1491364087 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 9:95490520 (GRCh38)
9:98252802 (GRCh37)
Canonical SPDI:: NC_000009.12:95490519:GA:
Gene:: PTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000422/5 (ALFA)
-=0.000392/43 (GnomAD)
HGVS:: NC_000009.12:g.95490520_95490521del, NC_000009.11:g.98252802_98252803del, NG_007664.1:g.31445_31446del

Select item 149129362411.

rs1491293624 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 9:95508111 (GRCh38)
9:98270393 (GRCh37)
Canonical SPDI:: NC_000009.12:95508109:AAA:A
Gene:: PTCH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.95508111_95508112del, NC_000009.11:g.98270393_98270394del, NG_007664.1:g.13855_13856del

Select item 149125753512.

rs1491257535 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCTG [Show Flanks]
Chromosome:: 9:95444811 (GRCh38)
9:98207094 (GRCh37)
Canonical SPDI:: NC_000009.12:95444811:TGTGCTG:TGTGCTGTGCTG
Gene:: PTCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TGTGCTGTGCTG=0./0 (ALFA)
TGTGC=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.95444814_95444818dup, NC_000009.11:g.98207096_98207100dup, NG_007664.1:g.77150_77154dup, NM_000264.5:c.*1577_*1581dup, NM_000264.4:c.*1577_*1581dup, NM_000264.3:c.*1577_*1581dup, NM_001083602.3:c.*1577_*1581dup, NM_001083602.2:c.*1577_*1581dup, NM_001083602.1:c.*1577_*1581dup, NM_001083603.3:c.*1577_*1581dup, NM_001083603.2:c.*1577_*1581dup, NM_001083603.1:c.*1577_*1581dup, NM_001083607.3:c.*1577_*1581dup, NM_001083607.2:c.*1577_*1581dup, NM_001083607.1:c.*1577_*1581dup, NM_001083606.3:c.*1577_*1581dup, NM_001083606.2:c.*1577_*1581dup, NM_001083606.1:c.*1577_*1581dup, NM_001083604.3:c.*1577_*1581dup, NM_001083604.2:c.*1577_*1581dup, NM_001083604.1:c.*1577_*1581dup, NM_001083605.3:c.*1577_*1581dup, NM_001083605.2:c.*1577_*1581dup, NM_001083605.1:c.*1577_*1581dup, NM_001354918.2:c.*1577_*1581dup, NM_001354918.1:c.*1577_*1581dup, NR_149061.2:n.6660_6664dup, NR_149061.1:n.5943_5947dup

Select item 149121274913.

rs1491212749 has merged into rs1370214107 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCACACACACACAC>-,GCACACACACACACGCACACACACACAC [Show Flanks]
Chromosome:: 9:95507920 (GRCh38)
9:98270202 (GRCh37)
Canonical SPDI:: NC_000009.12:95507906:CACACACACACACGCACACACACACAC:CACACACACACAC,NC_000009.12:95507906:CACACACACACACGCACACACACACAC:CACACACACACACGCACACACACACACGCACACACACACAC
Gene:: PTCH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,splice_donor_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACGCACACACACACACGCACACACACACAC=0./0 (ALFA)
-=0.00188/1 (NorthernSweden)
HGVS:: NC_000009.12:g.95507920_95507933del, NC_000009.12:g.95507920_95507933dup, NC_000009.11:g.98270202_98270215del, NC_000009.11:g.98270202_98270215dup, NG_007664.1:g.14046_14059del, NG_007664.1:g.14046_14059dup

Select item 149111820414.

rs1491118204 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:95511639 (GRCh38)
9:98273922 (GRCh37)
Canonical SPDI:: NC_000009.12:95511639:T:TT
Gene:: PTCH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.95511640dup, NC_000009.11:g.98273922dup, NG_007664.1:g.10326dup

Select item 149110717015.

rs1491107170 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 9:95514620 (GRCh38)
9:98276902 (GRCh37)
Canonical SPDI:: NC_000009.12:95514619:AG:
Gene:: PTCH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000008/1 (GnomAD)
HGVS:: NC_000009.12:g.95514620_95514621del, NC_000009.11:g.98276902_98276903del, NG_007664.1:g.7345_7346del

Select item 149110217716.

rs1491102177 has merged into rs34481207 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:95473552 (GRCh38)
9:98235834 (GRCh37)
Canonical SPDI:: NC_000009.12:95473542:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:95473542:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:95473542:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:95473542:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:95473542:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:95473542:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:95473542:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:95473542:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:95473542:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:95473542:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:95473542:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:95473542:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:95473542:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PTCH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.3333/1669 (1000Genomes)
HGVS:: NC_000009.12:g.95473552_95473562del, NC_000009.12:g.95473555_95473562del, NC_000009.12:g.95473556_95473562del, NC_000009.12:g.95473557_95473562del, NC_000009.12:g.95473558_95473562del, NC_000009.12:g.95473559_95473562del, NC_000009.12:g.95473560_95473562del, NC_000009.12:g.95473561_95473562del, NC_000009.12:g.95473562del, NC_000009.12:g.95473562dup, NC_000009.12:g.95473561_95473562dup, NC_000009.12:g.95473560_95473562dup, NC_000009.12:g.95473559_95473562dup, NC_000009.11:g.98235834_98235844del, NC_000009.11:g.98235837_98235844del, NC_000009.11:g.98235838_98235844del, NC_000009.11:g.98235839_98235844del, NC_000009.11:g.98235840_98235844del, NC_000009.11:g.98235841_98235844del, NC_000009.11:g.98235842_98235844del, NC_000009.11:g.98235843_98235844del, NC_000009.11:g.98235844del, NC_000009.11:g.98235844dup, NC_000009.11:g.98235843_98235844dup, NC_000009.11:g.98235842_98235844dup, NC_000009.11:g.98235841_98235844dup, NG_007664.1:g.48413_48423del, NG_007664.1:g.48416_48423del, NG_007664.1:g.48417_48423del, NG_007664.1:g.48418_48423del, NG_007664.1:g.48419_48423del, NG_007664.1:g.48420_48423del, NG_007664.1:g.48421_48423del, NG_007664.1:g.48422_48423del, NG_007664.1:g.48423del, NG_007664.1:g.48423dup, NG_007664.1:g.48422_48423dup, NG_007664.1:g.48421_48423dup, NG_007664.1:g.48420_48423dup

Select item 149107505317.

rs1491075053 has merged into rs3215875 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:95480916 (GRCh38)
9:98243198 (GRCh37)
Canonical SPDI:: NC_000009.12:95480907:TTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:95480907:TTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:95480907:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:95480907:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:95480907:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:95480907:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:95480907:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PTCH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.234/1012 (1000Genomes)
HGVS:: NC_000009.12:g.95480916_95480920del, NC_000009.12:g.95480917_95480920del, NC_000009.12:g.95480919_95480920del, NC_000009.12:g.95480920del, NC_000009.12:g.95480920dup, NC_000009.12:g.95480919_95480920dup, NC_000009.12:g.95480920_95480921insTTTTTTTTTTTTTT, NC_000009.11:g.98243198_98243202del, NC_000009.11:g.98243199_98243202del, NC_000009.11:g.98243201_98243202del, NC_000009.11:g.98243202del, NC_000009.11:g.98243202dup, NC_000009.11:g.98243201_98243202dup, NC_000009.11:g.98243202_98243203insTTTTTTTTTTTTTT, NG_007664.1:g.41054_41058del, NG_007664.1:g.41055_41058del, NG_007664.1:g.41057_41058del, NG_007664.1:g.41058del, NG_007664.1:g.41058dup, NG_007664.1:g.41057_41058dup, NG_007664.1:g.41058_41059insAAAAAAAAAAAAAA

Select item 149106898818.

rs1491068988 has merged into rs35918689 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 9:95501550 (GRCh38)
9:98263832 (GRCh37)
Canonical SPDI:: NC_000009.12:95501539:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:95501539:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:95501539:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:95501539:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:95501539:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:95501539:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:95501539:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: PTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.053/193 (1000Genomes)
A=0.3018/1119 (TWINSUK)
A=0.308/1187 (ALSPAC)
A=0.425/17 (GENOME_DK)
HGVS:: NC_000009.12:g.95501550_95501553del, NC_000009.12:g.95501551_95501553del, NC_000009.12:g.95501552_95501553del, NC_000009.12:g.95501553del, NC_000009.12:g.95501553dup, NC_000009.12:g.95501552_95501553dup, NC_000009.12:g.95501551_95501553dup, NC_000009.11:g.98263832_98263835del, NC_000009.11:g.98263833_98263835del, NC_000009.11:g.98263834_98263835del, NC_000009.11:g.98263835del, NC_000009.11:g.98263835dup, NC_000009.11:g.98263834_98263835dup, NC_000009.11:g.98263833_98263835dup, NG_007664.1:g.20423_20426del, NG_007664.1:g.20424_20426del, NG_007664.1:g.20425_20426del, NG_007664.1:g.20426del, NG_007664.1:g.20426dup, NG_007664.1:g.20425_20426dup, NG_007664.1:g.20424_20426dup

Select item 149105275819.

rs1491052758 has merged into rs59205702 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACAC>-,AC,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACACAC [Show Flanks]
Chromosome:: 9:95444521 (GRCh38)
9:98206803 (GRCh37)
Canonical SPDI:: NC_000009.12:95444509:CACACACACACACACACAC:CACACACACAC,NC_000009.12:95444509:CACACACACACACACACAC:CACACACACACAC,NC_000009.12:95444509:CACACACACACACACACAC:CACACACACACACAC,NC_000009.12:95444509:CACACACACACACACACAC:CACACACACACACACAC,NC_000009.12:95444509:CACACACACACACACACAC:CACACACACACACACACACAC,NC_000009.12:95444509:CACACACACACACACACAC:CACACACACACACACACACACAC,NC_000009.12:95444509:CACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000009.12:95444509:CACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000009.12:95444509:CACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000009.12:95444509:CACACACACACACACACAC:CACACACACACACACACACACACACACACACAC
Gene:: PTCH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACAC=0./0 (ALFA)
CA=0.10833/65 (NorthernSweden)
CA=0.13279/665 (1000Genomes)
HGVS:: NC_000009.12:g.95444511AC[5], NC_000009.12:g.95444511AC[6], NC_000009.12:g.95444511AC[7], NC_000009.12:g.95444511AC[8], NC_000009.12:g.95444511AC[10], NC_000009.12:g.95444511AC[11], NC_000009.12:g.95444511AC[12], NC_000009.12:g.95444511AC[13], NC_000009.12:g.95444511AC[14], NC_000009.12:g.95444511AC[16], NC_000009.11:g.98206793AC[5], NC_000009.11:g.98206793AC[6], NC_000009.11:g.98206793AC[7], NC_000009.11:g.98206793AC[8], NC_000009.11:g.98206793AC[10], NC_000009.11:g.98206793AC[11], NC_000009.11:g.98206793AC[12], NC_000009.11:g.98206793AC[13], NC_000009.11:g.98206793AC[14], NC_000009.11:g.98206793AC[16], NG_007664.1:g.77439TG[5], NG_007664.1:g.77439TG[6], NG_007664.1:g.77439TG[7], NG_007664.1:g.77439TG[8], NG_007664.1:g.77439TG[10], NG_007664.1:g.77439TG[11], NG_007664.1:g.77439TG[12], NG_007664.1:g.77439TG[13], NG_007664.1:g.77439TG[14], NG_007664.1:g.77439TG[16], NM_000264.5:c.*1866TG[5], NM_000264.5:c.*1866TG[6], NM_000264.5:c.*1866TG[7], NM_000264.5:c.*1866TG[8], NM_000264.5:c.*1866TG[10], NM_000264.5:c.*1866TG[11], NM_000264.5:c.*1866TG[12], NM_000264.5:c.*1866TG[13], NM_000264.5:c.*1866TG[14], NM_000264.5:c.*1866TG[16], NM_000264.4:c.*1866TG[5], NM_000264.4:c.*1866TG[6], NM_000264.4:c.*1866TG[7], NM_000264.4:c.*1866TG[8], NM_000264.4:c.*1866TG[10], NM_000264.4:c.*1866TG[11], NM_000264.4:c.*1866TG[12], NM_000264.4:c.*1866TG[13], NM_000264.4:c.*1866TG[14], NM_000264.4:c.*1866TG[16], NM_000264.3:c.*1866TG[5], NM_000264.3:c.*1866TG[6], NM_000264.3:c.*1866TG[7], NM_000264.3:c.*1866TG[8], NM_000264.3:c.*1866TG[10], NM_000264.3:c.*1866TG[11], NM_000264.3:c.*1866TG[12], NM_000264.3:c.*1866TG[13], NM_000264.3:c.*1866TG[14], NM_000264.3:c.*1866TG[16], NM_001083602.3:c.*1866TG[5], NM_001083602.3:c.*1866TG[6], NM_001083602.3:c.*1866TG[7], NM_001083602.3:c.*1866TG[8], NM_001083602.3:c.*1866TG[10], NM_001083602.3:c.*1866TG[11], NM_001083602.3:c.*1866TG[12], NM_001083602.3:c.*1866TG[13], NM_001083602.3:c.*1866TG[14], NM_001083602.3:c.*1866TG[16], NM_001083602.2:c.*1866TG[5], NM_001083602.2:c.*1866TG[6], NM_001083602.2:c.*1866TG[7], NM_001083602.2:c.*1866TG[8], NM_001083602.2:c.*1866TG[10], NM_001083602.2:c.*1866TG[11], NM_001083602.2:c.*1866TG[12], NM_001083602.2:c.*1866TG[13], NM_001083602.2:c.*1866TG[14], NM_001083602.2:c.*1866TG[16], NM_001083602.1:c.*1866TG[5], NM_001083602.1:c.*1866TG[6], NM_001083602.1:c.*1866TG[7], NM_001083602.1:c.*1866TG[8], NM_001083602.1:c.*1866TG[10], NM_001083602.1:c.*1866TG[11], NM_001083602.1:c.*1866TG[12], NM_001083602.1:c.*1866TG[13], NM_001083602.1:c.*1866TG[14], NM_001083602.1:c.*1866TG[16], NM_001083603.3:c.*1866TG[5], NM_001083603.3:c.*1866TG[6], NM_001083603.3:c.*1866TG[7], NM_001083603.3:c.*1866TG[8], NM_001083603.3:c.*1866TG[10], NM_001083603.3:c.*1866TG[11], NM_001083603.3:c.*1866TG[12], NM_001083603.3:c.*1866TG[13], NM_001083603.3:c.*1866TG[14], NM_001083603.3:c.*1866TG[16], NM_001083603.2:c.*1866TG[5], NM_001083603.2:c.*1866TG[6], NM_001083603.2:c.*1866TG[7], NM_001083603.2:c.*1866TG[8], NM_001083603.2:c.*1866TG[10], NM_001083603.2:c.*1866TG[11], NM_001083603.2:c.*1866TG[12], NM_001083603.2:c.*1866TG[13], NM_001083603.2:c.*1866TG[14], NM_001083603.2:c.*1866TG[16], NM_001083603.1:c.*1866TG[5], NM_001083603.1:c.*1866TG[6], NM_001083603.1:c.*1866TG[7], NM_001083603.1:c.*1866TG[8], NM_001083603.1:c.*1866TG[10], NM_001083603.1:c.*1866TG[11], NM_001083603.1:c.*1866TG[12], NM_001083603.1:c.*1866TG[13], NM_001083603.1:c.*1866TG[14], NM_001083603.1:c.*1866TG[16], NM_001083607.3:c.*1866TG[5], NM_001083607.3:c.*1866TG[6], NM_001083607.3:c.*1866TG[7], NM_001083607.3:c.*1866TG[8], NM_001083607.3:c.*1866TG[10], NM_001083607.3:c.*1866TG[11], NM_001083607.3:c.*1866TG[12], NM_001083607.3:c.*1866TG[13], NM_001083607.3:c.*1866TG[14], NM_001083607.3:c.*1866TG[16], NM_001083607.2:c.*1866TG[5], NM_001083607.2:c.*1866TG[6], NM_001083607.2:c.*1866TG[7], NM_001083607.2:c.*1866TG[8], NM_001083607.2:c.*1866TG[10], NM_001083607.2:c.*1866TG[11], NM_001083607.2:c.*1866TG[12], NM_001083607.2:c.*1866TG[13], NM_001083607.2:c.*1866TG[14], NM_001083607.2:c.*1866TG[16], NM_001083607.1:c.*1866TG[5], NM_001083607.1:c.*1866TG[6], NM_001083607.1:c.*1866TG[7], NM_001083607.1:c.*1866TG[8], NM_001083607.1:c.*1866TG[10], NM_001083607.1:c.*1866TG[11], NM_001083607.1:c.*1866TG[12], NM_001083607.1:c.*1866TG[13], NM_001083607.1:c.*1866TG[14], NM_001083607.1:c.*1866TG[16], NM_001083606.3:c.*1866TG[5], NM_001083606.3:c.*1866TG[6], NM_001083606.3:c.*1866TG[7], NM_001083606.3:c.*1866TG[8], NM_001083606.3:c.*1866TG[10], NM_001083606.3:c.*1866TG[11], NM_001083606.3:c.*1866TG[12], NM_001083606.3:c.*1866TG[13], NM_001083606.3:c.*1866TG[14], NM_001083606.3:c.*1866TG[16], NM_001083606.2:c.*1866TG[5], NM_001083606.2:c.*1866TG[6], NM_001083606.2:c.*1866TG[7], NM_001083606.2:c.*1866TG[8], NM_001083606.2:c.*1866TG[10], NM_001083606.2:c.*1866TG[11], NM_001083606.2:c.*1866TG[12], NM_001083606.2:c.*1866TG[13], NM_001083606.2:c.*1866TG[14], NM_001083606.2:c.*1866TG[16], NM_001083606.1:c.*1866TG[5], NM_001083606.1:c.*1866TG[6], NM_001083606.1:c.*1866TG[7], NM_001083606.1:c.*1866TG[8], NM_001083606.1:c.*1866TG[10], NM_001083606.1:c.*1866TG[11], NM_001083606.1:c.*1866TG[12], NM_001083606.1:c.*1866TG[13], NM_001083606.1:c.*1866TG[14], NM_001083606.1:c.*1866TG[16], NM_001083604.3:c.*1866TG[5], NM_001083604.3:c.*1866TG[6], NM_001083604.3:c.*1866TG[7], NM_001083604.3:c.*1866TG[8], NM_001083604.3:c.*1866TG[10], NM_001083604.3:c.*1866TG[11], NM_001083604.3:c.*1866TG[12], NM_001083604.3:c.*1866TG[13], NM_001083604.3:c.*1866TG[14], NM_001083604.3:c.*1866TG[16], NM_001083604.2:c.*1866TG[5], NM_001083604.2:c.*1866TG[6], NM_001083604.2:c.*1866TG[7], NM_001083604.2:c.*1866TG[8], NM_001083604.2:c.*1866TG[10], NM_001083604.2:c.*1866TG[11], NM_001083604.2:c.*1866TG[12], NM_001083604.2:c.*1866TG[13], NM_001083604.2:c.*1866TG[14], NM_001083604.2:c.*1866TG[16], NM_001083604.1:c.*1866TG[5], NM_001083604.1:c.*1866TG[6], NM_001083604.1:c.*1866TG[7], NM_001083604.1:c.*1866TG[8], NM_001083604.1:c.*1866TG[10], NM_001083604.1:c.*1866TG[11], NM_001083604.1:c.*1866TG[12], NM_001083604.1:c.*1866TG[13], NM_001083604.1:c.*1866TG[14], NM_001083604.1:c.*1866TG[16], NM_001083605.3:c.*1866TG[5], NM_001083605.3:c.*1866TG[6], NM_001083605.3:c.*1866TG[7], NM_001083605.3:c.*1866TG[8], NM_001083605.3:c.*1866TG[10], NM_001083605.3:c.*1866TG[11], NM_001083605.3:c.*1866TG[12], NM_001083605.3:c.*1866TG[13], NM_001083605.3:c.*1866TG[14], NM_001083605.3:c.*1866TG[16], NM_001083605.2:c.*1866TG[5], NM_001083605.2:c.*1866TG[6], NM_001083605.2:c.*1866TG[7], NM_001083605.2:c.*1866TG[8], NM_001083605.2:c.*1866TG[10], NM_001083605.2:c.*1866TG[11], NM_001083605.2:c.*1866TG[12], NM_001083605.2:c.*1866TG[13], NM_001083605.2:c.*1866TG[14], NM_001083605.2:c.*1866TG[16], NM_001083605.1:c.*1866TG[5], NM_001083605.1:c.*1866TG[6], NM_001083605.1:c.*1866TG[7], NM_001083605.1:c.*1866TG[8], NM_001083605.1:c.*1866TG[10], NM_001083605.1:c.*1866TG[11], NM_001083605.1:c.*1866TG[12], NM_001083605.1:c.*1866TG[13], NM_001083605.1:c.*1866TG[14], NM_001083605.1:c.*1866TG[16], NM_001354918.2:c.*1866TG[5], NM_001354918.2:c.*1866TG[6], NM_001354918.2:c.*1866TG[7], NM_001354918.2:c.*1866TG[8], NM_001354918.2:c.*1866TG[10], NM_001354918.2:c.*1866TG[11], NM_001354918.2:c.*1866TG[12], NM_001354918.2:c.*1866TG[13], NM_001354918.2:c.*1866TG[14], NM_001354918.2:c.*1866TG[16], NM_001354918.1:c.*1866TG[5], NM_001354918.1:c.*1866TG[6], NM_001354918.1:c.*1866TG[7], NM_001354918.1:c.*1866TG[8], NM_001354918.1:c.*1866TG[10], NM_001354918.1:c.*1866TG[11], NM_001354918.1:c.*1866TG[12], NM_001354918.1:c.*1866TG[13], NM_001354918.1:c.*1866TG[14], NM_001354918.1:c.*1866TG[16], NR_149061.2:n.6949TG[5], NR_149061.2:n.6949TG[6], NR_149061.2:n.6949TG[7], NR_149061.2:n.6949TG[8], NR_149061.2:n.6949TG[10], NR_149061.2:n.6949TG[11], NR_149061.2:n.6949TG[12], NR_149061.2:n.6949TG[13], NR_149061.2:n.6949TG[14], NR_149061.2:n.6949TG[16], NR_149061.1:n.6232TG[5], NR_149061.1:n.6232TG[6], NR_149061.1:n.6232TG[7], NR_149061.1:n.6232TG[8], NR_149061.1:n.6232TG[10], NR_149061.1:n.6232TG[11], NR_149061.1:n.6232TG[12], NR_149061.1:n.6232TG[13], NR_149061.1:n.6232TG[14], NR_149061.1:n.6232TG[16]

Select item 149099597620.

rs1490995976 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 9:95483385 (GRCh38)
9:98245667 (GRCh37)
Canonical SPDI:: NC_000009.12:95483383:GTG:G
Gene:: PTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.95483385_95483386del, NC_000009.11:g.98245667_98245668del, NG_007664.1:g.38581_38582del

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