SNP Links for Gene (Select 64881) - SNP

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Select item 14913435311.

rs1491343531 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:61408507 (GRCh38)
13:61982640 (GRCh37)
Canonical SPDI:: NC_000013.11:61408506:CT:
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000013.11:g.61408507_61408508del, NC_000013.10:g.61982640_61982641del

Select item 14912977532.

rs1491297753 has merged into rs58998619 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:61408523 (GRCh38)
13:61982656 (GRCh37)
Canonical SPDI:: NC_000013.11:61408507:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:61408507:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:61408507:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:61408507:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:61408507:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:61408507:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:61408507:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:61408507:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:61408507:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:61408507:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:61408507:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:61408507:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:61408507:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:61408507:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
TTTT=0.0218/109 (1000Genomes)
HGVS:: NC_000013.11:g.61408523_61408531del, NC_000013.11:g.61408525_61408531del, NC_000013.11:g.61408526_61408531del, NC_000013.11:g.61408527_61408531del, NC_000013.11:g.61408528_61408531del, NC_000013.11:g.61408529_61408531del, NC_000013.11:g.61408530_61408531del, NC_000013.11:g.61408531del, NC_000013.11:g.61408531dup, NC_000013.11:g.61408530_61408531dup, NC_000013.11:g.61408523_61408531dup, NC_000013.11:g.61408522_61408531dup, NC_000013.11:g.61408521_61408531dup, NC_000013.11:g.61408513_61408531dup, NC_000013.10:g.61982656_61982664del, NC_000013.10:g.61982658_61982664del, NC_000013.10:g.61982659_61982664del, NC_000013.10:g.61982660_61982664del, NC_000013.10:g.61982661_61982664del, NC_000013.10:g.61982662_61982664del, NC_000013.10:g.61982663_61982664del, NC_000013.10:g.61982664del, NC_000013.10:g.61982664dup, NC_000013.10:g.61982663_61982664dup, NC_000013.10:g.61982656_61982664dup, NC_000013.10:g.61982655_61982664dup, NC_000013.10:g.61982654_61982664dup, NC_000013.10:g.61982646_61982664dup

Select item 14909447613.

rs1490944761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:61408511 (GRCh38)
13:61982644 (GRCh37)
Canonical SPDI:: NC_000013.11:61408510:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000084/1 (GnomAD)
HGVS:: NC_000013.11:g.61408511T>C, NC_000013.10:g.61982644T>C

Select item 14908515484.

rs1490851548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:61423945 (GRCh38)
13:61998078 (GRCh37)
Canonical SPDI:: NC_000013.11:61423944:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.61423945A>G, NC_000013.10:g.61998078A>G

Select item 14907333655.

rs1490733365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:61416698 (GRCh38)
13:61990831 (GRCh37)
Canonical SPDI:: NC_000013.11:61416697:C:T
Gene:: PCDH20 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
HGVS:: NC_000013.11:g.61416698C>T, NC_000013.10:g.61990831C>T

Select item 14905837376.

rs1490583737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:61413578 (GRCh38)
13:61987711 (GRCh37)
Canonical SPDI:: NC_000013.11:61413577:T:G
Gene:: PCDH20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.61413578T>G, NC_000013.10:g.61987711T>G, NM_022843.4:c.521A>C, NM_022843.3:c.521A>C, NP_073754.2:p.Asp174Ala

Select item 14905525347.

rs1490552534 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:61412793 (GRCh38)
13:61986926 (GRCh37)
Canonical SPDI:: NC_000013.11:61412792:C:A
Gene:: PCDH20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.61412793C>A, NC_000013.10:g.61986926C>A, NM_022843.4:c.1306G>T, NM_022843.3:c.1306G>T, NP_073754.2:p.Asp436Tyr

Select item 14904743128.

rs1490474312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 13:61423489 (GRCh38)
13:61997622 (GRCh37)
Canonical SPDI:: NC_000013.11:61423488:A:C,NC_000013.11:61423488:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.61423489A>C, NC_000013.11:g.61423489A>G, NC_000013.10:g.61997622A>C, NC_000013.10:g.61997622A>G

Select item 14904533639.

rs1490453363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:61408977 (GRCh38)
13:61983110 (GRCh37)
Canonical SPDI:: NC_000013.11:61408976:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.61408977A>G, NC_000013.10:g.61983110A>G

Select item 149044470110.

rs1490444701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:61423636 (GRCh38)
13:61997769 (GRCh37)
Canonical SPDI:: NC_000013.11:61423635:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000013.11:g.61423636G>A, NC_000013.10:g.61997769G>A

Select item 149014607611.

rs1490146076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:61422572 (GRCh38)
13:61996705 (GRCh37)
Canonical SPDI:: NC_000013.11:61422571:G:A,NC_000013.11:61422571:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.61422572G>A, NC_000013.11:g.61422572G>T, NC_000013.10:g.61996705G>A, NC_000013.10:g.61996705G>T

Select item 149009399012.

rs1490093990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:61413260 (GRCh38)
13:61987393 (GRCh37)
Canonical SPDI:: NC_000013.11:61413259:C:T
Gene:: PCDH20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.61413260C>T, NC_000013.10:g.61987393C>T, NM_022843.4:c.839G>A, NM_022843.3:c.839G>A, NP_073754.2:p.Arg280Lys

Select item 149003846613.

rs1490038466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:61423510 (GRCh38)
13:61997643 (GRCh37)
Canonical SPDI:: NC_000013.11:61423509:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.61423510G>A, NC_000013.10:g.61997643G>A

Select item 148995224214.

rs1489952242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:61422609 (GRCh38)
13:61996742 (GRCh37)
Canonical SPDI:: NC_000013.11:61422608:C:A,NC_000013.11:61422608:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.61422609C>A, NC_000013.11:g.61422609C>T, NC_000013.10:g.61996742C>A, NC_000013.10:g.61996742C>T

Select item 148969254615.

rs1489692546 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:61421104 (GRCh38)
13:61995237 (GRCh37)
Canonical SPDI:: NC_000013.11:61421103:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.61421104T>C, NC_000013.10:g.61995237T>C

Select item 148956296516.

rs1489562965 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:61418533 (GRCh38)
13:61992666 (GRCh37)
Canonical SPDI:: NC_000013.11:61418532:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.61418533T>G, NC_000013.10:g.61992666T>G

Select item 148942430817.

rs1489424308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:61415020 (GRCh38)
13:61989153 (GRCh37)
Canonical SPDI:: NC_000013.11:61415019:C:A
Gene:: PCDH20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.61415020C>A, NC_000013.10:g.61989153C>A

Select item 148914218518.

rs1489142185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:61429059 (GRCh38)
13:62003192 (GRCh37)
Canonical SPDI:: NC_000013.11:61429058:C:G
Gene:: LINC02339 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.61429059C>G, NC_000013.10:g.62003192C>G

Select item 148865159319.

rs1488651593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:61416889 (GRCh38)
13:61991022 (GRCh37)
Canonical SPDI:: NC_000013.11:61416888:C:A
Gene:: PCDH20 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000042/11 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000013.11:g.61416889C>A, NC_000013.10:g.61991022C>A

Select item 148858308820.

rs1488583088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:61418958 (GRCh38)
13:61993091 (GRCh37)
Canonical SPDI:: NC_000013.11:61418957:C:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.61418958C>A, NC_000013.10:g.61993091C>A

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