SNP Links for Gene (Select 84671) - SNP

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Select item 14914896051.

rs1491489605 [Homo sapiens]

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

Select item 14914710982.

rs1491471098 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG,TG [Show Flanks]
Chromosome:: 19:53156046 (GRCh38)
19:53659300 (GRCh37)
Canonical SPDI:: NC_000019.10:53156046:G:GCG,NC_000019.10:53156046:G:GTG
Gene:: ZNF347 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTG=0./0 (ALFA)
GC=0.00015/10 (GnomAD)
HGVS:: NC_000019.10:g.53156047_53156048insCG, NC_000019.10:g.53156047_53156048insTG, NC_000019.9:g.53659300_53659301insCG, NC_000019.9:g.53659300_53659301insTG

Select item 14914546113.

rs1491454611 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:53153892 (GRCh38)
19:53657146 (GRCh37)
Canonical SPDI:: NC_000019.10:53153892::T
Gene:: ZNF347 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53153892_53153893insT, NC_000019.9:g.53657145_53657146insT

Select item 14913466344.

rs1491346634 has merged into rs869201089 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:53160126 (GRCh38)
19:53663379 (GRCh37)
Canonical SPDI:: NC_000019.10:53160124:TAT:T
Gene:: ZNF347 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.53160126_53160127del, NC_000019.9:g.53663379_53663380del

Select item 14913192685.

rs1491319268 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:53158899 (GRCh38)
19:53662153 (GRCh37)
Canonical SPDI:: NC_000019.10:53158899::A
Gene:: ZNF347 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00092/15 (TOMMO)
HGVS:: NC_000019.10:g.53158899_53158900insA, NC_000019.9:g.53662152_53662153insA, NG_059888.1:g.44_45insA, NM_001172674.2:c.-267_-266insT, NM_001172674.1:c.-267_-266insT

Select item 14912834656.

rs1491283465 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 19:53155336 (GRCh38)
19:53658589 (GRCh37)
Canonical SPDI:: NC_000019.10:53155334:TTT:T
Gene:: ZNF347 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000306/5 (ALFA)
-=0.000244/29 (GnomAD)
-=0.000886/15 (TOMMO)
HGVS:: NC_000019.10:g.53155336_53155337del, NC_000019.9:g.53658589_53658590del

Select item 14912655017.

rs1491265501 has merged into rs34905550 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:53151546 (GRCh38)
19:53654799 (GRCh37)
Canonical SPDI:: NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:53151534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF347 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.53151546_53151557del, NC_000019.10:g.53151551_53151557del, NC_000019.10:g.53151552_53151557del, NC_000019.10:g.53151553_53151557del, NC_000019.10:g.53151554_53151557del, NC_000019.10:g.53151555_53151557del, NC_000019.10:g.53151556_53151557del, NC_000019.10:g.53151557del, NC_000019.10:g.53151557dup, NC_000019.10:g.53151556_53151557dup, NC_000019.10:g.53151555_53151557dup, NC_000019.10:g.53151554_53151557dup, NC_000019.10:g.53151553_53151557dup, NC_000019.10:g.53151552_53151557dup, NC_000019.10:g.53151551_53151557dup, NC_000019.10:g.53151550_53151557dup, NC_000019.10:g.53151549_53151557dup, NC_000019.10:g.53151541_53151557dup, NC_000019.10:g.53151537_53151557dup, NC_000019.10:g.53151535_53151557A[31]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.53654799_53654810del, NC_000019.9:g.53654804_53654810del, NC_000019.9:g.53654805_53654810del, NC_000019.9:g.53654806_53654810del, NC_000019.9:g.53654807_53654810del, NC_000019.9:g.53654808_53654810del, NC_000019.9:g.53654809_53654810del, NC_000019.9:g.53654810del, NC_000019.9:g.53654810dup, NC_000019.9:g.53654809_53654810dup, NC_000019.9:g.53654808_53654810dup, NC_000019.9:g.53654807_53654810dup, NC_000019.9:g.53654806_53654810dup, NC_000019.9:g.53654805_53654810dup, NC_000019.9:g.53654804_53654810dup, NC_000019.9:g.53654803_53654810dup, NC_000019.9:g.53654802_53654810dup, NC_000019.9:g.53654794_53654810dup, NC_000019.9:g.53654790_53654810dup, NC_000019.9:g.53654788_53654810A[31]TAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14911623808.

rs1491162380 has merged into rs34037433 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 19:53156057 (GRCh38)
19:53659310 (GRCh37)
Canonical SPDI:: NC_000019.10:53156045:GGGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000019.10:53156045:GGGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000019.10:53156045:GGGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000019.10:53156045:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000019.10:53156045:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000019.10:53156045:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000019.10:53156045:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000019.10:53156045:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000019.10:53156045:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000019.10:53156045:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000019.10:53156045:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:53156045:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:53156045:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:53156045:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:53156045:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: ZNF347 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGG=0./0 (ALFA)
G=0.1316/5 (GENOME_DK)
HGVS:: NC_000019.10:g.53156057_53156060del, NC_000019.10:g.53156058_53156060del, NC_000019.10:g.53156059_53156060del, NC_000019.10:g.53156060del, NC_000019.10:g.53156060dup, NC_000019.10:g.53156059_53156060dup, NC_000019.10:g.53156058_53156060dup, NC_000019.10:g.53156057_53156060dup, NC_000019.10:g.53156056_53156060dup, NC_000019.10:g.53156055_53156060dup, NC_000019.10:g.53156054_53156060dup, NC_000019.10:g.53156053_53156060dup, NC_000019.10:g.53156052_53156060dup, NC_000019.10:g.53156051_53156060dup, NC_000019.10:g.53156048_53156060dup, NC_000019.9:g.53659310_53659313del, NC_000019.9:g.53659311_53659313del, NC_000019.9:g.53659312_53659313del, NC_000019.9:g.53659313del, NC_000019.9:g.53659313dup, NC_000019.9:g.53659312_53659313dup, NC_000019.9:g.53659311_53659313dup, NC_000019.9:g.53659310_53659313dup, NC_000019.9:g.53659309_53659313dup, NC_000019.9:g.53659308_53659313dup, NC_000019.9:g.53659307_53659313dup, NC_000019.9:g.53659306_53659313dup, NC_000019.9:g.53659305_53659313dup, NC_000019.9:g.53659304_53659313dup, NC_000019.9:g.53659301_53659313dup

Select item 14911081719.

rs1491108171 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:53151534 (GRCh38)
19:53654787 (GRCh37)
Canonical SPDI:: NC_000019.10:53151533:TA:
Gene:: ZNF347 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000019.10:g.53151534_53151535del, NC_000019.9:g.53654787_53654788del

Select item 149101807310.

rs1491018073 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:53134506 (GRCh38)
19:53637759 (GRCh37)
Canonical SPDI:: NC_000019.10:53134505:TG:
Gene:: ZNF415 (Varview), ZNF347 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.53134506_53134507del, NC_000019.9:g.53637759_53637760del

Select item 149098348811.

rs1490983488 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 19:53145178 (GRCh38)
19:53648431 (GRCh37)
Canonical SPDI:: NC_000019.10:53145177:C:
Gene:: ZNF347 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.53145178del, NC_000019.9:g.53648431del

Select item 149064207812.

rs1490642078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53156146 (GRCh38)
19:53659399 (GRCh37)
Canonical SPDI:: NC_000019.10:53156145:C:T
Gene:: ZNF347 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53156146C>T, NC_000019.9:g.53659399C>T

Select item 149054419713.

rs1490544197 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATAGAGAGAGAGA>- [Show Flanks]
Chromosome:: 19:53135321 (GRCh38)
19:53638574 (GRCh37)
Canonical SPDI:: NC_000019.10:53135319:ATATATATATATATATATATAGAGAGAGAGA:A
Gene:: ZNF347 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00006/1 (TOMMO)
HGVS:: NC_000019.10:g.53135321_53135350del, NC_000019.9:g.53638574_53638603del, NM_032584.3:c.*4959_*4988del, NM_001172674.2:c.*4959_*4988del, NM_001172675.2:c.*4959_*4988del

Select item 149045158014.

rs1490451580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:53160354 (GRCh38)
19:53663607 (GRCh37)
Canonical SPDI:: NC_000019.10:53160353:G:C
Gene:: ZNF347 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.53160354G>C, NC_000019.9:g.53663607G>C

Select item 149043430015.

rs1490434300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53150140 (GRCh38)
19:53653393 (GRCh37)
Canonical SPDI:: NC_000019.10:53150139:T:C
Gene:: ZNF347 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.00006/16 (TOPMED)
HGVS:: NC_000019.10:g.53150140T>C, NC_000019.9:g.53653393T>C

Select item 149028628216.

rs1490286282 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53159181 (GRCh38)
19:53662434 (GRCh37)
Canonical SPDI:: NC_000019.10:53159180:T:C
Gene:: ZNF347 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.53159181T>C, NC_000019.9:g.53662434T>C, NG_059888.1:g.326T>C

Select item 149021342217.

rs1490213422 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53134659 (GRCh38)
19:53637912 (GRCh37)
Canonical SPDI:: NC_000019.10:53134658:T:C
Gene:: ZNF415 (Varview), ZNF347 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53134659T>C, NC_000019.9:g.53637912T>C

Select item 149016420718.

rs1490164207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53144165 (GRCh38)
19:53647418 (GRCh37)
Canonical SPDI:: NC_000019.10:53144164:C:T
Gene:: ZNF347 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000042/11 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000019.10:g.53144165C>T, NC_000019.9:g.53647418C>T

Select item 149011366219.

rs1490113662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:53149110 (GRCh38)
19:53652363 (GRCh37)
Canonical SPDI:: NC_000019.10:53149109:G:A,NC_000019.10:53149109:G:C
Gene:: ZNF347 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.00006/1 (TOMMO)
HGVS:: NC_000019.10:g.53149110G>A, NC_000019.10:g.53149110G>C, NC_000019.9:g.53652363G>A, NC_000019.9:g.53652363G>C

Select item 148999453620.

rs1489994536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53143374 (GRCh38)
19:53646627 (GRCh37)
Canonical SPDI:: NC_000019.10:53143373:C:T
Gene:: ZNF347 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00193/32 (TOMMO)
HGVS:: NC_000019.10:g.53143374C>T, NC_000019.9:g.53646627C>T

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