SNP Links for Gene (Select 9708) - SNP

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Select item 14915326301.

rs1491532630 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14915212152.

rs1491521215 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATGTTTGT [Show Flanks]
Chromosome:: 5:141461409 (GRCh38)
5:140840977 (GRCh37)
Canonical SPDI:: NC_000005.10:141461409:TATGTTTGT:TATGTTTGTTATGTTTGT
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATGTTTGTTATGTTTGT=0./0 (ALFA)
TATGTTTGT=0.000008/2 (TOPMED)
TATGTTTGT=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.141461410_141461418dup, NC_000005.9:g.140840977_140840985dup, NG_000012.2:g.171607_171615dup

Select item 14915098123.

rs1491509812 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:141497540 (GRCh38)
5:140877108 (GRCh37)
Canonical SPDI:: NC_000005.10:141497540::A
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC5 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.00004/5 (GnomAD)
A=0.000079/21 (TOPMED)
HGVS:: NC_000005.10:g.141497540_141497541insA, NC_000005.9:g.140877107_140877108insA, NG_000012.2:g.207737_207738insA, NG_050746.1:g.17367_17368insA

Select item 14915080744.

rs1491508074 has merged into rs56191208 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:141433853 (GRCh38)
5:140813420 (GRCh37)
Canonical SPDI:: NC_000005.10:141433837:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:141433837:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:141433837:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:141433837:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:141433837:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:141433837:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:141433837:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:141433837:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:141433837:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:141433837:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:141433837:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:141433837:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.141433853_141433855del, NC_000005.10:g.141433854_141433855del, NC_000005.10:g.141433855del, NC_000005.10:g.141433855dup, NC_000005.10:g.141433854_141433855dup, NC_000005.10:g.141433853_141433855dup, NC_000005.10:g.141433852_141433855dup, NC_000005.10:g.141433850_141433855dup, NC_000005.10:g.141433849_141433855dup, NC_000005.10:g.141433848_141433855dup, NC_000005.10:g.141433847_141433855dup, NC_000005.10:g.141433841_141433855dup, NC_000005.9:g.140813420_140813422del, NC_000005.9:g.140813421_140813422del, NC_000005.9:g.140813422del, NC_000005.9:g.140813422dup, NC_000005.9:g.140813421_140813422dup, NC_000005.9:g.140813420_140813422dup, NC_000005.9:g.140813419_140813422dup, NC_000005.9:g.140813417_140813422dup, NC_000005.9:g.140813416_140813422dup, NC_000005.9:g.140813415_140813422dup, NC_000005.9:g.140813414_140813422dup, NC_000005.9:g.140813408_140813422dup, NG_000012.2:g.144050_144052del, NG_000012.2:g.144051_144052del, NG_000012.2:g.144052del, NG_000012.2:g.144052dup, NG_000012.2:g.144051_144052dup, NG_000012.2:g.144050_144052dup, NG_000012.2:g.144049_144052dup, NG_000012.2:g.144047_144052dup, NG_000012.2:g.144046_144052dup, NG_000012.2:g.144045_144052dup, NG_000012.2:g.144044_144052dup, NG_000012.2:g.144038_144052dup

Select item 14913895825.

rs1491389582 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 5:141513076 (GRCh38)
5:140892643 (GRCh37)
Canonical SPDI:: NC_000005.10:141513074:TTT:T
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC5 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000005.10:g.141513076_141513077del, NC_000005.9:g.140892643_140892644del, NG_000012.2:g.223273_223274del, NG_011594.2:g.110980_110981del, NG_050746.1:g.32903_32904del

Select item 14913780196.

rs1491378019 has merged into rs55762287 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 5:141501305 (GRCh38)
5:140880872 (GRCh37)
Canonical SPDI:: NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141501290:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC5 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000005.10:g.141501291AC[7], NC_000005.10:g.141501291AC[8], NC_000005.10:g.141501291AC[9], NC_000005.10:g.141501291AC[10], NC_000005.10:g.141501291AC[11], NC_000005.10:g.141501291AC[12], NC_000005.10:g.141501291AC[13], NC_000005.10:g.141501291AC[14], NC_000005.10:g.141501291AC[15], NC_000005.10:g.141501291AC[16], NC_000005.10:g.141501291AC[17], NC_000005.10:g.141501291AC[18], NC_000005.10:g.141501291AC[19], NC_000005.10:g.141501291AC[20], NC_000005.10:g.141501291AC[21], NC_000005.10:g.141501291AC[23], NC_000005.10:g.141501291AC[24], NC_000005.10:g.141501291AC[25], NC_000005.10:g.141501291AC[26], NC_000005.10:g.141501291AC[27], NC_000005.10:g.141501291AC[28], NC_000005.10:g.141501291AC[29], NC_000005.9:g.140880858AC[7], NC_000005.9:g.140880858AC[8], NC_000005.9:g.140880858AC[9], NC_000005.9:g.140880858AC[10], NC_000005.9:g.140880858AC[11], NC_000005.9:g.140880858AC[12], NC_000005.9:g.140880858AC[13], NC_000005.9:g.140880858AC[14], NC_000005.9:g.140880858AC[15], NC_000005.9:g.140880858AC[16], NC_000005.9:g.140880858AC[17], NC_000005.9:g.140880858AC[18], NC_000005.9:g.140880858AC[19], NC_000005.9:g.140880858AC[20], NC_000005.9:g.140880858AC[21], NC_000005.9:g.140880858AC[23], NC_000005.9:g.140880858AC[24], NC_000005.9:g.140880858AC[25], NC_000005.9:g.140880858AC[26], NC_000005.9:g.140880858AC[27], NC_000005.9:g.140880858AC[28], NC_000005.9:g.140880858AC[29], NG_000012.2:g.211488AC[7], NG_000012.2:g.211488AC[8], NG_000012.2:g.211488AC[9], NG_000012.2:g.211488AC[10], NG_000012.2:g.211488AC[11], NG_000012.2:g.211488AC[12], NG_000012.2:g.211488AC[13], NG_000012.2:g.211488AC[14], NG_000012.2:g.211488AC[15], NG_000012.2:g.211488AC[16], NG_000012.2:g.211488AC[17], NG_000012.2:g.211488AC[18], NG_000012.2:g.211488AC[19], NG_000012.2:g.211488AC[20], NG_000012.2:g.211488AC[21], NG_000012.2:g.211488AC[23], NG_000012.2:g.211488AC[24], NG_000012.2:g.211488AC[25], NG_000012.2:g.211488AC[26], NG_000012.2:g.211488AC[27], NG_000012.2:g.211488AC[28], NG_000012.2:g.211488AC[29], NG_050746.1:g.21118AC[7], NG_050746.1:g.21118AC[8], NG_050746.1:g.21118AC[9], NG_050746.1:g.21118AC[10], NG_050746.1:g.21118AC[11], NG_050746.1:g.21118AC[12], NG_050746.1:g.21118AC[13], NG_050746.1:g.21118AC[14], NG_050746.1:g.21118AC[15], NG_050746.1:g.21118AC[16], NG_050746.1:g.21118AC[17], NG_050746.1:g.21118AC[18], NG_050746.1:g.21118AC[19], NG_050746.1:g.21118AC[20], NG_050746.1:g.21118AC[21], NG_050746.1:g.21118AC[23], NG_050746.1:g.21118AC[24], NG_050746.1:g.21118AC[25], NG_050746.1:g.21118AC[26], NG_050746.1:g.21118AC[27], NG_050746.1:g.21118AC[28], NG_050746.1:g.21118AC[29]

Select item 14913739407.

rs1491373940 has merged into rs36035257 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:141482103 (GRCh38)
5:140861670 (GRCh37)
Canonical SPDI:: NC_000005.10:141482089:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:141482089:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:141482089:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:141482089:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:141482089:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:141482089:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0786/303 (ALSPAC)
-=0.2516/1260 (1000Genomes)
HGVS:: NC_000005.10:g.141482103_141482105del, NC_000005.10:g.141482104_141482105del, NC_000005.10:g.141482105del, NC_000005.10:g.141482105dup, NC_000005.10:g.141482104_141482105dup, NC_000005.10:g.141482094_141482105dup, NC_000005.9:g.140861670_140861672del, NC_000005.9:g.140861671_140861672del, NC_000005.9:g.140861672del, NC_000005.9:g.140861672dup, NC_000005.9:g.140861671_140861672dup, NC_000005.9:g.140861661_140861672dup, NG_000012.2:g.192300_192302del, NG_000012.2:g.192301_192302del, NG_000012.2:g.192302del, NG_000012.2:g.192302dup, NG_000012.2:g.192301_192302dup, NG_000012.2:g.192291_192302dup, NG_050746.1:g.1930_1932del, NG_050746.1:g.1931_1932del, NG_050746.1:g.1932del, NG_050746.1:g.1932dup, NG_050746.1:g.1931_1932dup, NG_050746.1:g.1921_1932dup

Select item 14913671688.

rs1491367168 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:141417028 (GRCh38)
5:140796595 (GRCh37)
Canonical SPDI:: NC_000005.10:141417027:GT:
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.141417028_141417029del, NC_000005.9:g.140796595_140796596del, NG_000012.2:g.127225_127226del, NM_032090.2:c.*1300_*1301del

Select item 14913145859.

rs1491314585 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:141461411 (GRCh38)
5:140840978 (GRCh37)
Canonical SPDI:: NC_000005.10:141461408:ATAT:AT
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141461409AT[1], NC_000005.9:g.140840976AT[1], NG_000012.2:g.171606AT[1]

Select item 149130257010.

rs1491302570 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CCAC
Chromosome:: no mapping
Canonical SPDI:

Select item 149130132311.

rs1491301323 has merged into rs57426385 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:141415754 (GRCh38)
5:140795321 (GRCh37)
Canonical SPDI:: NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141415740:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.141415754_141415772del, NC_000005.10:g.141415755_141415772del, NC_000005.10:g.141415756_141415772del, NC_000005.10:g.141415757_141415772del, NC_000005.10:g.141415758_141415772del, NC_000005.10:g.141415759_141415772del, NC_000005.10:g.141415760_141415772del, NC_000005.10:g.141415761_141415772del, NC_000005.10:g.141415762_141415772del, NC_000005.10:g.141415763_141415772del, NC_000005.10:g.141415764_141415772del, NC_000005.10:g.141415765_141415772del, NC_000005.10:g.141415766_141415772del, NC_000005.10:g.141415767_141415772del, NC_000005.10:g.141415768_141415772del, NC_000005.10:g.141415769_141415772del, NC_000005.10:g.141415770_141415772del, NC_000005.10:g.141415771_141415772del, NC_000005.10:g.141415772del, NC_000005.10:g.141415772dup, NC_000005.10:g.141415771_141415772dup, NC_000005.10:g.141415770_141415772dup, NC_000005.10:g.141415769_141415772dup, NC_000005.10:g.141415768_141415772dup, NC_000005.10:g.141415767_141415772dup, NC_000005.10:g.141415766_141415772dup, NC_000005.10:g.141415765_141415772dup, NC_000005.10:g.141415741_141415772T[40]GTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.141415764_141415772dup, NC_000005.10:g.141415763_141415772dup, NC_000005.10:g.141415762_141415772dup, NC_000005.10:g.141415761_141415772dup, NC_000005.10:g.141415760_141415772dup, NC_000005.10:g.141415759_141415772dup, NC_000005.10:g.141415758_141415772dup, NC_000005.10:g.141415757_141415772dup, NC_000005.10:g.141415756_141415772dup, NC_000005.10:g.141415755_141415772dup, NC_000005.10:g.141415754_141415772dup, NC_000005.10:g.141415753_141415772dup, NC_000005.10:g.141415752_141415772dup, NC_000005.10:g.141415750_141415772dup, NC_000005.10:g.141415741_141415772T[58]CTTTTCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.141415746_141415772dup, NC_000005.10:g.141415745_141415772dup, NC_000005.10:g.141415744_141415772dup, NC_000005.10:g.141415743_141415772dup, NC_000005.10:g.141415741_141415772T[62]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.141415742_141415772dup, NC_000005.10:g.141415741_141415772dup, NC_000005.10:g.141415772_141415773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141415772_141415773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141415772_141415773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141415772_141415773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141415772_141415773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140795321_140795339del, NC_000005.9:g.140795322_140795339del, NC_000005.9:g.140795323_140795339del, NC_000005.9:g.140795324_140795339del, NC_000005.9:g.140795325_140795339del, NC_000005.9:g.140795326_140795339del, NC_000005.9:g.140795327_140795339del, NC_000005.9:g.140795328_140795339del, NC_000005.9:g.140795329_140795339del, NC_000005.9:g.140795330_140795339del, NC_000005.9:g.140795331_140795339del, NC_000005.9:g.140795332_140795339del, NC_000005.9:g.140795333_140795339del, NC_000005.9:g.140795334_140795339del, NC_000005.9:g.140795335_140795339del, NC_000005.9:g.140795336_140795339del, NC_000005.9:g.140795337_140795339del, NC_000005.9:g.140795338_140795339del, NC_000005.9:g.140795339del, NC_000005.9:g.140795339dup, NC_000005.9:g.140795338_140795339dup, NC_000005.9:g.140795337_140795339dup, NC_000005.9:g.140795336_140795339dup, NC_000005.9:g.140795335_140795339dup, NC_000005.9:g.140795334_140795339dup, NC_000005.9:g.140795333_140795339dup, NC_000005.9:g.140795332_140795339dup, NC_000005.9:g.140795308_140795339T[40]GTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.140795331_140795339dup, NC_000005.9:g.140795330_140795339dup, NC_000005.9:g.140795329_140795339dup, NC_000005.9:g.140795328_140795339dup, NC_000005.9:g.140795327_140795339dup, NC_000005.9:g.140795326_140795339dup, NC_000005.9:g.140795325_140795339dup, NC_000005.9:g.140795324_140795339dup, NC_000005.9:g.140795323_140795339dup, NC_000005.9:g.140795322_140795339dup, NC_000005.9:g.140795321_140795339dup, NC_000005.9:g.140795320_140795339dup, NC_000005.9:g.140795319_140795339dup, NC_000005.9:g.140795317_140795339dup, NC_000005.9:g.140795308_140795339T[58]CTTTTCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.140795313_140795339dup, NC_000005.9:g.140795312_140795339dup, NC_000005.9:g.140795311_140795339dup, NC_000005.9:g.140795310_140795339dup, NC_000005.9:g.140795308_140795339T[62]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.140795309_140795339dup, NC_000005.9:g.140795308_140795339dup, NC_000005.9:g.140795339_140795340insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140795339_140795340insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140795339_140795340insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140795339_140795340insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140795339_140795340insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.125951_125969del, NG_000012.2:g.125952_125969del, NG_000012.2:g.125953_125969del, NG_000012.2:g.125954_125969del, NG_000012.2:g.125955_125969del, NG_000012.2:g.125956_125969del, NG_000012.2:g.125957_125969del, NG_000012.2:g.125958_125969del, NG_000012.2:g.125959_125969del, NG_000012.2:g.125960_125969del, NG_000012.2:g.125961_125969del, NG_000012.2:g.125962_125969del, NG_000012.2:g.125963_125969del, NG_000012.2:g.125964_125969del, NG_000012.2:g.125965_125969del, NG_000012.2:g.125966_125969del, NG_000012.2:g.125967_125969del, NG_000012.2:g.125968_125969del, NG_000012.2:g.125969del, NG_000012.2:g.125969dup, NG_000012.2:g.125968_125969dup, NG_000012.2:g.125967_125969dup, NG_000012.2:g.125966_125969dup, NG_000012.2:g.125965_125969dup, NG_000012.2:g.125964_125969dup, NG_000012.2:g.125963_125969dup, NG_000012.2:g.125962_125969dup, NG_000012.2:g.125938_125969T[40]GTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_000012.2:g.125961_125969dup, NG_000012.2:g.125960_125969dup, NG_000012.2:g.125959_125969dup, NG_000012.2:g.125958_125969dup, NG_000012.2:g.125957_125969dup, NG_000012.2:g.125956_125969dup, NG_000012.2:g.125955_125969dup, NG_000012.2:g.125954_125969dup, NG_000012.2:g.125953_125969dup, NG_000012.2:g.125952_125969dup, NG_000012.2:g.125951_125969dup, NG_000012.2:g.125950_125969dup, NG_000012.2:g.125949_125969dup, NG_000012.2:g.125947_125969dup, NG_000012.2:g.125938_125969T[58]CTTTTCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_000012.2:g.125943_125969dup, NG_000012.2:g.125942_125969dup, NG_000012.2:g.125941_125969dup, NG_000012.2:g.125940_125969dup, NG_000012.2:g.125938_125969T[62]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_000012.2:g.125939_125969dup, NG_000012.2:g.125938_125969dup, NG_000012.2:g.125969_125970insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.125969_125970insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.125969_125970insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.125969_125970insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.125969_125970insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_032090.2:c.*26_*44del, NM_032090.2:c.*27_*44del, NM_032090.2:c.*28_*44del, NM_032090.2:c.*29_*44del, NM_032090.2:c.*30_*44del, NM_032090.2:c.*31_*44del, NM_032090.2:c.*32_*44del, NM_032090.2:c.*33_*44del, NM_032090.2:c.*34_*44del, NM_032090.2:c.*35_*44del, NM_032090.2:c.*36_*44del, NM_032090.2:c.*37_*44del, NM_032090.2:c.*38_*44del, NM_032090.2:c.*39_*44del, NM_032090.2:c.*40_*44del, NM_032090.2:c.*41_*44del, NM_032090.2:c.*42_*44del, NM_032090.2:c.*43_*44del, NM_032090.2:c.*44del, NM_032090.2:c.*44dup, NM_032090.2:c.*43_*44dup, NM_032090.2:c.*42_*44dup, NM_032090.2:c.*41_*44dup, NM_032090.2:c.*40_*44dup, NM_032090.2:c.*39_*44dup, NM_032090.2:c.*38_*44dup, NM_032090.2:c.*37_*44dup, NM_032090.2:c.*13_*44T[40]GTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_032090.2:c.*36_*44dup, NM_032090.2:c.*35_*44dup, NM_032090.2:c.*34_*44dup, NM_032090.2:c.*33_*44dup, NM_032090.2:c.*32_*44dup, NM_032090.2:c.*31_*44dup, NM_032090.2:c.*30_*44dup, NM_032090.2:c.*29_*44dup, NM_032090.2:c.*28_*44dup, NM_032090.2:c.*27_*44dup, NM_032090.2:c.*26_*44dup, NM_032090.2:c.*25_*44dup, NM_032090.2:c.*24_*44dup, NM_032090.2:c.*22_*44dup, NM_032090.2:c.*13_*44T[58]CTTTTCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_032090.2:c.*18_*44dup, NM_032090.2:c.*17_*44dup, NM_032090.2:c.*16_*44dup, NM_032090.2:c.*15_*44dup, NM_032090.2:c.*13_*44T[62]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_032090.2:c.*14_*44dup, NM_032090.2:c.*13_*44dup, NM_032090.2:c.*44_*45insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_032090.2:c.*44_*45insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_032090.2:c.*44_*45insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_032090.2:c.*44_*45insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_032090.2:c.*44_*45insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149128984412.

rs1491289844 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:141482089 (GRCh38)
5:140861656 (GRCh37)
Canonical SPDI:: NC_000005.10:141482088:CA:
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.141482089_141482090del, NC_000005.9:g.140861656_140861657del, NG_000012.2:g.192286_192287del, NG_050746.1:g.1916_1917del

Select item 149128597313.

rs1491285973 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:141415740 (GRCh38)
5:140795307 (GRCh37)
Canonical SPDI:: NC_000005.10:141415739:GT:
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00005/4 (GnomAD)
HGVS:: NC_000005.10:g.141415740_141415741del, NC_000005.9:g.140795307_140795308del, NG_000012.2:g.125937_125938del, NM_032090.2:c.*12_*13del

Select item 149128577414.

rs1491285774 has merged into rs71926979 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 5:141417037 (GRCh38)
5:140796604 (GRCh37)
Canonical SPDI:: NC_000005.10:141417028:TTTTTTTTTT:TTTTTTTT,NC_000005.10:141417028:TTTTTTTTTT:TTTTTTTTT,NC_000005.10:141417028:TTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:141417028:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.19253/742 (ALSPAC)
-=0.20065/744 (TWINSUK)
-=0.20216/898 (Estonian)
-=0.25/10 (GENOME_DK)
-=0.26058/1305 (1000Genomes)
HGVS:: NC_000005.10:g.141417037_141417038del, NC_000005.10:g.141417038del, NC_000005.10:g.141417038dup, NC_000005.10:g.141417037_141417038dup, NC_000005.9:g.140796604_140796605del, NC_000005.9:g.140796605del, NC_000005.9:g.140796605dup, NC_000005.9:g.140796604_140796605dup, NG_000012.2:g.127234_127235del, NG_000012.2:g.127235del, NG_000012.2:g.127235dup, NG_000012.2:g.127234_127235dup, NM_032090.2:c.*1309_*1310del, NM_032090.2:c.*1310del, NM_032090.2:c.*1310dup, NM_032090.2:c.*1309_*1310dup

Select item 149127529515.

rs1491275295 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTAATCTAT [Show Flanks]
Chromosome:: 5:141433400 (GRCh38)
5:140812968 (GRCh37)
Canonical SPDI:: NC_000005.10:141433400:ATCTAT:ATCTATCTAATCTAT
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATCTATCTAATCTAT=0./0 (ALFA)
HGVS:: NC_000005.10:g.141433401_141433406ATCT[2]AATCTAT[1], NC_000005.9:g.140812968_140812973ATCT[2]AATCTAT[1], NG_000012.2:g.143598_143603ATCT[2]AATCTAT[1]

Select item 149123509216.

rs1491235092 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:141501290 (GRCh38)
5:140880857 (GRCh37)
Canonical SPDI:: NC_000005.10:141501287:TATA:TA
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC5 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATA=0./0 (ALFA)
-=0.00008/7 (GnomAD)
HGVS:: NC_000005.10:g.141501288TA[1], NC_000005.9:g.140880855TA[1], NG_000012.2:g.211485TA[1], NG_050746.1:g.21115TA[1]

Select item 149120413517.

rs1491204135 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,ATAT [Show Flanks]
Chromosome:: 5:141460981 (GRCh38)
5:140840549 (GRCh37)
Canonical SPDI:: NC_000005.10:141460981:T:TAT,NC_000005.10:141460981:T:TATAT
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
TA=0.00004/1 (TOMMO)
HGVS:: NC_000005.10:g.141460982_141460983insAT, NC_000005.10:g.141460982_141460983insATAT, NC_000005.9:g.140840549_140840550insAT, NC_000005.9:g.140840549_140840550insATAT, NG_000012.2:g.171179_171180insAT, NG_000012.2:g.171179_171180insATAT

Select item 149117288718.

rs1491172887 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CAA
Chromosome:: no mapping
Canonical SPDI:

Select item 149116632119.

rs1491166321 has merged into rs1554092628 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 5:141390892 (GRCh38)
5:140770459 (GRCh37)
Canonical SPDI:: NC_000005.10:141390887:GAGAGAGA:GAGA,NC_000005.10:141390887:GAGAGAGA:GAGAGA,NC_000005.10:141390887:GAGAGAGA:GAGAGAGAGA
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGA=0./0 (ALFA)
HGVS:: NC_000005.10:g.141390888GA[2], NC_000005.10:g.141390888GA[3], NC_000005.10:g.141390888GA[5], NC_000005.9:g.140770455GA[2], NC_000005.9:g.140770455GA[3], NC_000005.9:g.140770455GA[5], NG_000012.2:g.101085GA[2], NG_000012.2:g.101085GA[3], NG_000012.2:g.101085GA[5]

Select item 149114047020.

rs1491140470 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA [Show Flanks]
Chromosome:: 5:141417038 (GRCh38)
5:140796606 (GRCh37)
Canonical SPDI:: NC_000005.10:141417038::TA
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TA=0./0 (ALFA)
TA=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141417038_141417039insTA, NC_000005.9:g.140796605_140796606insTA, NG_000012.2:g.127235_127236insTA, NM_032090.2:c.*1310_*1311insTA

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