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Select item 14910027431.

rs1491002743 has merged into rs528909965 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:118822938 (GRCh38)
X:117956901 (GRCh37)
Canonical SPDI:: NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000023.11:g.118822938_118822962del, NC_000023.11:g.118822940_118822962del, NC_000023.11:g.118822941_118822962del, NC_000023.11:g.118822942_118822962del, NC_000023.11:g.118822943_118822962del, NC_000023.11:g.118822944_118822962del, NC_000023.11:g.118822945_118822962del, NC_000023.11:g.118822946_118822962del, NC_000023.11:g.118822947_118822962del, NC_000023.11:g.118822948_118822962del, NC_000023.11:g.118822949_118822962del, NC_000023.11:g.118822950_118822962del, NC_000023.11:g.118822951_118822962del, NC_000023.11:g.118822952_118822962del, NC_000023.11:g.118822953_118822962del, NC_000023.11:g.118822954_118822962del, NC_000023.11:g.118822955_118822962del, NC_000023.11:g.118822956_118822962del, NC_000023.11:g.118822957_118822962del, NC_000023.11:g.118822958_118822962del, NC_000023.11:g.118822959_118822962del, NC_000023.11:g.118822960_118822962del, NC_000023.11:g.118822961_118822962del, NC_000023.11:g.118822962del, NC_000023.11:g.118822962dup, NC_000023.11:g.118822961_118822962dup, NC_000023.11:g.118822960_118822962dup, NC_000023.11:g.118822959_118822962dup, NC_000023.11:g.118822958_118822962dup, NC_000023.11:g.118822956_118822962dup, NC_000023.11:g.118822955_118822962dup, NC_000023.11:g.118822952_118822962dup, NC_000023.11:g.118822950_118822962dup, NC_000023.11:g.118822949_118822962dup, NC_000023.11:g.118822948_118822962dup, NC_000023.11:g.118822946_118822962dup, NC_000023.11:g.118822945_118822962dup, NC_000023.11:g.118822943_118822962dup, NC_000023.11:g.118822941_118822962dup, NC_000023.11:g.118822935_118822962dup, NC_000023.11:g.118822934_118822962dup, NC_000023.10:g.117956901_117956925del, NC_000023.10:g.117956903_117956925del, NC_000023.10:g.117956904_117956925del, NC_000023.10:g.117956905_117956925del, NC_000023.10:g.117956906_117956925del, NC_000023.10:g.117956907_117956925del, NC_000023.10:g.117956908_117956925del, NC_000023.10:g.117956909_117956925del, NC_000023.10:g.117956910_117956925del, NC_000023.10:g.117956911_117956925del, NC_000023.10:g.117956912_117956925del, NC_000023.10:g.117956913_117956925del, NC_000023.10:g.117956914_117956925del, NC_000023.10:g.117956915_117956925del, NC_000023.10:g.117956916_117956925del, NC_000023.10:g.117956917_117956925del, NC_000023.10:g.117956918_117956925del, NC_000023.10:g.117956919_117956925del, NC_000023.10:g.117956920_117956925del, NC_000023.10:g.117956921_117956925del, NC_000023.10:g.117956922_117956925del, NC_000023.10:g.117956923_117956925del, NC_000023.10:g.117956924_117956925del, NC_000023.10:g.117956925del, NC_000023.10:g.117956925dup, NC_000023.10:g.117956924_117956925dup, NC_000023.10:g.117956923_117956925dup, NC_000023.10:g.117956922_117956925dup, NC_000023.10:g.117956921_117956925dup, NC_000023.10:g.117956919_117956925dup, NC_000023.10:g.117956918_117956925dup, NC_000023.10:g.117956915_117956925dup, NC_000023.10:g.117956913_117956925dup, NC_000023.10:g.117956912_117956925dup, NC_000023.10:g.117956911_117956925dup, NC_000023.10:g.117956909_117956925dup, NC_000023.10:g.117956908_117956925dup, NC_000023.10:g.117956906_117956925dup, NC_000023.10:g.117956904_117956925dup, NC_000023.10:g.117956898_117956925dup, NC_000023.10:g.117956897_117956925dup, NG_042836.1:g.4196_4220del, NG_042836.1:g.4198_4220del, NG_042836.1:g.4199_4220del, NG_042836.1:g.4200_4220del, NG_042836.1:g.4201_4220del, NG_042836.1:g.4202_4220del, NG_042836.1:g.4203_4220del, NG_042836.1:g.4204_4220del, NG_042836.1:g.4205_4220del, NG_042836.1:g.4206_4220del, NG_042836.1:g.4207_4220del, NG_042836.1:g.4208_4220del, NG_042836.1:g.4209_4220del, NG_042836.1:g.4210_4220del, NG_042836.1:g.4211_4220del, NG_042836.1:g.4212_4220del, NG_042836.1:g.4213_4220del, NG_042836.1:g.4214_4220del, NG_042836.1:g.4215_4220del, NG_042836.1:g.4216_4220del, NG_042836.1:g.4217_4220del, NG_042836.1:g.4218_4220del, NG_042836.1:g.4219_4220del, NG_042836.1:g.4220del, NG_042836.1:g.4220dup, NG_042836.1:g.4219_4220dup, NG_042836.1:g.4218_4220dup, NG_042836.1:g.4217_4220dup, NG_042836.1:g.4216_4220dup, NG_042836.1:g.4214_4220dup, NG_042836.1:g.4213_4220dup, NG_042836.1:g.4210_4220dup, NG_042836.1:g.4208_4220dup, NG_042836.1:g.4207_4220dup, NG_042836.1:g.4206_4220dup, NG_042836.1:g.4204_4220dup, NG_042836.1:g.4203_4220dup, NG_042836.1:g.4201_4220dup, NG_042836.1:g.4199_4220dup, NG_042836.1:g.4193_4220dup, NG_042836.1:g.4192_4220dup

Select item 14905113322.

rs1490511332 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:118823361 (GRCh38)
X:117957324 (GRCh37)
Canonical SPDI:: NC_000023.11:118823360:A:G
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.118823361A>G, NC_000023.10:g.117957324A>G, NG_042836.1:g.4619A>G

Select item 14899070493.

rs1489907049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:118826569 (GRCh38)
X:117960532 (GRCh37)
Canonical SPDI:: NC_000023.11:118826568:C:T
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 3_prime_UTR_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.118826569C>T, NC_000023.10:g.117960532C>T, NG_042836.1:g.7827C>T, NM_173798.4:c.*116C>T, NM_173798.3:c.*116C>T, NM_173798.2:c.*116C>T, NM_001312891.2:c.*116C>T, NM_001312891.1:c.*116C>T

Select item 14898922834.

rs1489892283 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: X:118824948 (GRCh38)
X:117958912 (GRCh37)
Canonical SPDI:: NC_000023.11:118824948:AAAAA:AAAAAA
Gene:: ZCCHC12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.118824953dup, NC_000023.10:g.117958916dup, NG_042836.1:g.6211dup

Select item 14895568105.

rs1489556810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:118825108 (GRCh38)
X:117959071 (GRCh37)
Canonical SPDI:: NC_000023.11:118825107:C:G
Gene:: ZCCHC12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.118825108C>G, NC_000023.10:g.117959071C>G, NG_042836.1:g.6366C>G

Select item 14885278936.

rs1488527893 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,AA [Show Flanks]
Chromosome:: X:118826754 (GRCh38)
X:117960717 (GRCh37)
Canonical SPDI:: NC_000023.11:118826750:AAAAAA:AAA,NC_000023.11:118826750:AAAAAA:AAAAA
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.118826754_118826756del, NC_000023.11:g.118826756del, NC_000023.10:g.117960717_117960719del, NC_000023.10:g.117960719del, NG_042836.1:g.8012_8014del, NG_042836.1:g.8014del, NM_173798.4:c.*301_*303del, NM_173798.4:c.*303del, NM_173798.3:c.*301_*303del, NM_173798.3:c.*303del, NM_173798.2:c.*301_*303del, NM_173798.2:c.*303del, NM_001312891.2:c.*301_*303del, NM_001312891.2:c.*303del, NM_001312891.1:c.*301_*303del, NM_001312891.1:c.*303del

Select item 14877648317.

rs1487764831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:118825630 (GRCh38)
X:117959593 (GRCh37)
Canonical SPDI:: NC_000023.11:118825629:C:T
Gene:: ZCCHC12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.118825630C>T, NC_000023.10:g.117959593C>T, NG_042836.1:g.6888C>T, NM_173798.4:c.386C>T, NM_173798.3:c.386C>T, NM_173798.2:c.386C>T, NM_001312891.2:c.386C>T, NM_001312891.1:c.386C>T, NP_776159.1:p.Thr129Ile, NP_001299820.1:p.Thr129Ile

Select item 14877553018.

rs1487755301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:118823839 (GRCh38)
X:117957802 (GRCh37)
Canonical SPDI:: NC_000023.11:118823838:C:T
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.118823839C>T, NC_000023.10:g.117957802C>T, NG_042836.1:g.5097C>T, NM_173798.4:c.-458C>T, NM_173798.3:c.-458C>T, NM_173798.2:c.-458C>T, NM_001312891.2:c.-406C>T, NM_001312891.1:c.-406C>T

Select item 14877241999.

rs1487724199 has merged into rs528909965 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:118822938 (GRCh38)
X:117956901 (GRCh37)
Canonical SPDI:: NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118822925:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000023.11:g.118822938_118822962del, NC_000023.11:g.118822940_118822962del, NC_000023.11:g.118822941_118822962del, NC_000023.11:g.118822942_118822962del, NC_000023.11:g.118822943_118822962del, NC_000023.11:g.118822944_118822962del, NC_000023.11:g.118822945_118822962del, NC_000023.11:g.118822946_118822962del, NC_000023.11:g.118822947_118822962del, NC_000023.11:g.118822948_118822962del, NC_000023.11:g.118822949_118822962del, NC_000023.11:g.118822950_118822962del, NC_000023.11:g.118822951_118822962del, NC_000023.11:g.118822952_118822962del, NC_000023.11:g.118822953_118822962del, NC_000023.11:g.118822954_118822962del, NC_000023.11:g.118822955_118822962del, NC_000023.11:g.118822956_118822962del, NC_000023.11:g.118822957_118822962del, NC_000023.11:g.118822958_118822962del, NC_000023.11:g.118822959_118822962del, NC_000023.11:g.118822960_118822962del, NC_000023.11:g.118822961_118822962del, NC_000023.11:g.118822962del, NC_000023.11:g.118822962dup, NC_000023.11:g.118822961_118822962dup, NC_000023.11:g.118822960_118822962dup, NC_000023.11:g.118822959_118822962dup, NC_000023.11:g.118822958_118822962dup, NC_000023.11:g.118822956_118822962dup, NC_000023.11:g.118822955_118822962dup, NC_000023.11:g.118822952_118822962dup, NC_000023.11:g.118822950_118822962dup, NC_000023.11:g.118822949_118822962dup, NC_000023.11:g.118822948_118822962dup, NC_000023.11:g.118822946_118822962dup, NC_000023.11:g.118822945_118822962dup, NC_000023.11:g.118822943_118822962dup, NC_000023.11:g.118822941_118822962dup, NC_000023.11:g.118822935_118822962dup, NC_000023.11:g.118822934_118822962dup, NC_000023.10:g.117956901_117956925del, NC_000023.10:g.117956903_117956925del, NC_000023.10:g.117956904_117956925del, NC_000023.10:g.117956905_117956925del, NC_000023.10:g.117956906_117956925del, NC_000023.10:g.117956907_117956925del, NC_000023.10:g.117956908_117956925del, NC_000023.10:g.117956909_117956925del, NC_000023.10:g.117956910_117956925del, NC_000023.10:g.117956911_117956925del, NC_000023.10:g.117956912_117956925del, NC_000023.10:g.117956913_117956925del, NC_000023.10:g.117956914_117956925del, NC_000023.10:g.117956915_117956925del, NC_000023.10:g.117956916_117956925del, NC_000023.10:g.117956917_117956925del, NC_000023.10:g.117956918_117956925del, NC_000023.10:g.117956919_117956925del, NC_000023.10:g.117956920_117956925del, NC_000023.10:g.117956921_117956925del, NC_000023.10:g.117956922_117956925del, NC_000023.10:g.117956923_117956925del, NC_000023.10:g.117956924_117956925del, NC_000023.10:g.117956925del, NC_000023.10:g.117956925dup, NC_000023.10:g.117956924_117956925dup, NC_000023.10:g.117956923_117956925dup, NC_000023.10:g.117956922_117956925dup, NC_000023.10:g.117956921_117956925dup, NC_000023.10:g.117956919_117956925dup, NC_000023.10:g.117956918_117956925dup, NC_000023.10:g.117956915_117956925dup, NC_000023.10:g.117956913_117956925dup, NC_000023.10:g.117956912_117956925dup, NC_000023.10:g.117956911_117956925dup, NC_000023.10:g.117956909_117956925dup, NC_000023.10:g.117956908_117956925dup, NC_000023.10:g.117956906_117956925dup, NC_000023.10:g.117956904_117956925dup, NC_000023.10:g.117956898_117956925dup, NC_000023.10:g.117956897_117956925dup, NG_042836.1:g.4196_4220del, NG_042836.1:g.4198_4220del, NG_042836.1:g.4199_4220del, NG_042836.1:g.4200_4220del, NG_042836.1:g.4201_4220del, NG_042836.1:g.4202_4220del, NG_042836.1:g.4203_4220del, NG_042836.1:g.4204_4220del, NG_042836.1:g.4205_4220del, NG_042836.1:g.4206_4220del, NG_042836.1:g.4207_4220del, NG_042836.1:g.4208_4220del, NG_042836.1:g.4209_4220del, NG_042836.1:g.4210_4220del, NG_042836.1:g.4211_4220del, NG_042836.1:g.4212_4220del, NG_042836.1:g.4213_4220del, NG_042836.1:g.4214_4220del, NG_042836.1:g.4215_4220del, NG_042836.1:g.4216_4220del, NG_042836.1:g.4217_4220del, NG_042836.1:g.4218_4220del, NG_042836.1:g.4219_4220del, NG_042836.1:g.4220del, NG_042836.1:g.4220dup, NG_042836.1:g.4219_4220dup, NG_042836.1:g.4218_4220dup, NG_042836.1:g.4217_4220dup, NG_042836.1:g.4216_4220dup, NG_042836.1:g.4214_4220dup, NG_042836.1:g.4213_4220dup, NG_042836.1:g.4210_4220dup, NG_042836.1:g.4208_4220dup, NG_042836.1:g.4207_4220dup, NG_042836.1:g.4206_4220dup, NG_042836.1:g.4204_4220dup, NG_042836.1:g.4203_4220dup, NG_042836.1:g.4201_4220dup, NG_042836.1:g.4199_4220dup, NG_042836.1:g.4193_4220dup, NG_042836.1:g.4192_4220dup

Select item 148766557010.

rs1487665570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:118823521 (GRCh38)
X:117957484 (GRCh37)
Canonical SPDI:: NC_000023.11:118823520:C:T
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.118823521C>T, NC_000023.10:g.117957484C>T, NG_042836.1:g.4779C>T

Select item 148628666211.

rs1486286662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:118823969 (GRCh38)
X:117957932 (GRCh37)
Canonical SPDI:: NC_000023.11:118823968:G:A
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.118823969G>A, NC_000023.10:g.117957932G>A, NG_042836.1:g.5227G>A, NM_173798.4:c.-328G>A, NM_173798.3:c.-328G>A, NM_173798.2:c.-328G>A, NM_001312891.2:c.-276G>A, NM_001312891.1:c.-276G>A

Select item 148627842312.

rs1486278423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:118823940 (GRCh38)
X:117957903 (GRCh37)
Canonical SPDI:: NC_000023.11:118823939:G:T
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.118823940G>T, NC_000023.10:g.117957903G>T, NG_042836.1:g.5198G>T, NM_173798.4:c.-357G>T, NM_173798.3:c.-357G>T, NM_173798.2:c.-357G>T, NM_001312891.2:c.-305G>T, NM_001312891.1:c.-305G>T

Select item 148401754813.

rs1484017548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:118826862 (GRCh38)
X:117960825 (GRCh37)
Canonical SPDI:: NC_000023.11:118826861:T:C
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.118826862T>C, NC_000023.10:g.117960825T>C, NG_042836.1:g.8120T>C, NM_173798.4:c.*409T>C, NM_173798.3:c.*409T>C, NM_173798.2:c.*409T>C, NM_001312891.2:c.*409T>C, NM_001312891.1:c.*409T>C

Select item 148301253514.

rs1483012535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:118823063 (GRCh38)
X:117957026 (GRCh37)
Canonical SPDI:: NC_000023.11:118823062:C:T
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000031/3 (GnomAD)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.118823063C>T, NC_000023.10:g.117957026C>T, NG_042836.1:g.4321C>T

Select item 148281440115.

rs1482814401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:118823778 (GRCh38)
X:117957741 (GRCh37)
Canonical SPDI:: NC_000023.11:118823777:G:A
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.118823778G>A, NC_000023.10:g.117957741G>A, NG_042836.1:g.5036G>A, NM_173798.3:c.-519G>A, NM_001312891.1:c.-467G>A

Select item 148264021516.

rs1482640215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:118826901 (GRCh38)
X:117960864 (GRCh37)
Canonical SPDI:: NC_000023.11:118826900:C:A
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.118826901C>A, NC_000023.10:g.117960864C>A, NG_042836.1:g.8159C>A, NM_173798.4:c.*448C>A, NM_173798.3:c.*448C>A, NM_173798.2:c.*448C>A, NM_001312891.2:c.*448C>A, NM_001312891.1:c.*448C>A

Select item 148194402317.

rs1481944023 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: X:118827129 (GRCh38)
X:117961092 (GRCh37)
Canonical SPDI:: NC_000023.11:118827128:G:
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000019/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.118827129del, NC_000023.10:g.117961092del, NG_042836.1:g.8387del

Select item 148174254118.

rs1481742541 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:118824030 (GRCh38)
X:117957993 (GRCh37)
Canonical SPDI:: NC_000023.11:118824029:C:T
Gene:: ZCCHC12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000078/1 (TOMMO)
HGVS:: NC_000023.11:g.118824030C>T, NC_000023.10:g.117957993C>T, NG_042836.1:g.5288C>T

Select item 148163081119.

rs1481630811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:118823003 (GRCh38)
X:117956966 (GRCh37)
Canonical SPDI:: NC_000023.11:118823002:G:A,NC_000023.11:118823002:G:T
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.118823003G>A, NC_000023.11:g.118823003G>T, NC_000023.10:g.117956966G>A, NC_000023.10:g.117956966G>T, NG_042836.1:g.4261G>A, NG_042836.1:g.4261G>T

Select item 148144564520.

rs1481445645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:118823928 (GRCh38)
X:117957891 (GRCh37)
Canonical SPDI:: NC_000023.11:118823927:G:A,NC_000023.11:118823927:G:T
Gene:: ZCCHC12 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.118823928G>A, NC_000023.11:g.118823928G>T, NC_000023.10:g.117957891G>A, NC_000023.10:g.117957891G>T, NG_042836.1:g.5186G>A, NG_042836.1:g.5186G>T, NM_173798.4:c.-369G>A, NM_173798.4:c.-369G>T, NM_173798.3:c.-369G>A, NM_173798.3:c.-369G>T, NM_173798.2:c.-369G>A, NM_173798.2:c.-369G>T, NM_001312891.2:c.-317G>A, NM_001312891.2:c.-317G>T, NM_001312891.1:c.-317G>A, NM_001312891.1:c.-317G>T

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