SNP Links for Gene (Select 57649) - SNP

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Select item 14912037401.

rs1491203740 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:28923653 (GRCh38)
17:27250671 (GRCh37)
Canonical SPDI:: NC_000017.11:28923650:CACA:CA
Gene:: PHF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.00015/2 (TOMMO)
-=0.00118/20 (GnomAD)
-=0.00119/2 (Korea1K)
HGVS:: NC_000017.11:g.28923651CA[1], NC_000017.10:g.27250669CA[1]

Select item 14911830332.

rs1491183033 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAA,AAAAAAAAAAAAAAGAAAA,AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGA,AAAAAAAAAAGAAAAAAAAAA,AAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAATAAAAAAAAAA,AAAAAGAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:28923651 (GRCh38)
17:27250670 (GRCh37)
Canonical SPDI:: NC_000017.11:28923651:A:AA,NC_000017.11:28923651:A:AAA,NC_000017.11:28923651:A:AAAA,NC_000017.11:28923651:A:AAAAA,NC_000017.11:28923651:A:AAAAAA,NC_000017.11:28923651:A:AAAAAAA,NC_000017.11:28923651:A:AAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAGAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAAAAGA,NC_000017.11:28923651:A:AAAAAAAAAAAGAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAAAAAATAAAAAAAAAA,NC_000017.11:28923651:A:AAAAAAGAAAAAAAAAAAAAAAAA
Gene:: PHF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
AAAAAAA=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28923652dup, NC_000017.11:g.28923652_28923653insAA, NC_000017.11:g.28923652_28923653insAAA, NC_000017.11:g.28923652_28923653insAAAA, NC_000017.11:g.28923652_28923653insAAAAA, NC_000017.11:g.28923652_28923653insAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652_28923653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28923652A[55]GA[1], NC_000017.11:g.28923652A[44]GAAAAAAA[1], NC_000017.11:g.28923652A[42]GA[1], NC_000017.11:g.28923652A[39]GAAAAAA[1], NC_000017.11:g.28923652A[15]GAAAA[1], NC_000017.11:g.28923652A[15]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.28923652A[14]GA[1], NC_000017.11:g.28923652A[11]GAAAAAAAAAA[1], NC_000017.11:g.28923652A[11]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.28923652A[11]TAAAAAAAAAA[1], NC_000017.11:g.28923652A[6]GAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.27250670dup, NC_000017.10:g.27250670_27250671insAA, NC_000017.10:g.27250670_27250671insAAA, NC_000017.10:g.27250670_27250671insAAAA, NC_000017.10:g.27250670_27250671insAAAAA, NC_000017.10:g.27250670_27250671insAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670_27250671insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27250670A[55]GA[1], NC_000017.10:g.27250670A[44]GAAAAAAA[1], NC_000017.10:g.27250670A[42]GA[1], NC_000017.10:g.27250670A[39]GAAAAAA[1], NC_000017.10:g.27250670A[15]GAAAA[1], NC_000017.10:g.27250670A[15]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.27250670A[14]GA[1], NC_000017.10:g.27250670A[11]GAAAAAAAAAA[1], NC_000017.10:g.27250670A[11]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.27250670A[11]TAAAAAAAAAA[1], NC_000017.10:g.27250670A[6]GAAAAAAAAAAAAAAAAA[1]

Select item 14909681663.

rs1490968166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:28951840 (GRCh38)
17:27278858 (GRCh37)
Canonical SPDI:: NC_000017.11:28951839:C:G,NC_000017.11:28951839:C:T
Gene:: PHF12 (Varview), LOC105371716 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28951840C>G, NC_000017.11:g.28951840C>T, NC_000017.10:g.27278858C>G, NC_000017.10:g.27278858C>T, XR_001752822.2:n.239C>G, XR_001752822.2:n.239C>T, XR_007065691.1:n.239C>G, XR_007065691.1:n.239C>T

Select item 14909421244.

rs1490942124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28952586 (GRCh38)
17:27279604 (GRCh37)
Canonical SPDI:: NC_000017.11:28952585:G:A
Gene:: PHF12 (Varview), LOC105371716 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.28952586G>A, NC_000017.10:g.27279604G>A, XR_001752822.2:n.985G>A, XR_007065691.1:n.985G>A

Select item 14907416225.

rs1490741622 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:28946251 (GRCh38)
17:27273269 (GRCh37)
Canonical SPDI:: NC_000017.11:28946250:TT:T
Gene:: PHF12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.28946252del, NC_000017.10:g.27273270del

Select item 14905417146.

rs1490541714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:28937977 (GRCh38)
17:27264995 (GRCh37)
Canonical SPDI:: NC_000017.11:28937976:G:C
Gene:: PHF12 (Varview), LOC101927018 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28937977G>C, NC_000017.10:g.27264995G>C

Select item 14905157967.

rs1490515796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:28936723 (GRCh38)
17:27263741 (GRCh37)
Canonical SPDI:: NC_000017.11:28936722:G:C
Gene:: PHF12 (Varview), LOC101927018 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28936723G>C, NC_000017.10:g.27263741G>C

Select item 14903508778.

rs1490350877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28938528 (GRCh38)
17:27265546 (GRCh37)
Canonical SPDI:: NC_000017.11:28938527:T:C
Gene:: PHF12 (Varview), LOC101927018 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28938528T>C, NC_000017.10:g.27265546T>C

Select item 14903386329.

rs1490338632 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:28929749 (GRCh38)
17:27256767 (GRCh37)
Canonical SPDI:: NC_000017.11:28929748:A:C
Gene:: PHF12 (Varview), LOC101927018 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28929749A>C, NC_000017.10:g.27256767A>C

Select item 149032447510.

rs1490324475 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28921765 (GRCh38)
17:27248783 (GRCh37)
Canonical SPDI:: NC_000017.11:28921764:A:G
Gene:: PHF12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28921765A>G, NC_000017.10:g.27248783A>G, XM_005258015.5:c.489T>C, XM_005258015.4:c.489T>C, XM_005258015.3:c.489T>C, XM_005258015.2:c.489T>C, XM_005258015.1:c.489T>C, XM_011525083.4:c.759T>C, XM_011525083.3:c.759T>C, XM_011525083.2:c.759T>C, XM_011525083.1:c.759T>C, XM_011525082.4:c.759T>C, XM_011525082.3:c.759T>C, XM_011525082.2:c.759T>C, XM_011525082.1:c.759T>C, XM_011525078.3:c.693T>C, XM_011525078.2:c.693T>C, XM_011525078.1:c.693T>C, NM_020889.3:c.759T>C, NM_020889.2:c.759T>C, NM_001290131.2:c.759T>C, NM_001290131.1:c.759T>C, NM_001033561.2:c.759T>C, NM_001033561.1:c.759T>C, XM_017024904.2:c.666T>C, XM_017024904.1:c.666T>C, XM_047436478.1:c.657T>C, XM_047436479.1:c.597T>C, XM_047436480.1:c.108T>C

Select item 149030818811.

rs1490308188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:28913901 (GRCh38)
17:27240919 (GRCh37)
Canonical SPDI:: NC_000017.11:28913900:G:T
Gene:: PHF12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28913901G>T, NC_000017.10:g.27240919G>T, XM_005258015.5:c.1001C>A, XM_005258015.4:c.1001C>A, XM_005258015.3:c.1001C>A, XM_005258015.2:c.1001C>A, XM_005258015.1:c.1001C>A, XM_011525083.4:c.1271C>A, XM_011525083.3:c.1271C>A, XM_011525083.2:c.1271C>A, XM_011525083.1:c.1271C>A, XM_011525082.4:c.1271C>A, XM_011525082.3:c.1271C>A, XM_011525082.2:c.1271C>A, XM_011525082.1:c.1271C>A, XM_011525078.3:c.1205C>A, XM_011525078.2:c.1205C>A, XM_011525078.1:c.1205C>A, NM_020889.3:c.1271C>A, NM_020889.2:c.1271C>A, NM_001290131.2:c.1271C>A, NM_001290131.1:c.1271C>A, NM_001033561.2:c.1271C>A, NM_001033561.1:c.1271C>A, XM_017024904.2:c.1178C>A, XM_017024904.1:c.1178C>A, XM_047436478.1:c.1169C>A, XM_047436479.1:c.1109C>A, XM_047436480.1:c.620C>A, XP_005258072.1:p.Ala334Asp, XP_011523385.1:p.Ala424Asp, XP_011523384.1:p.Ala424Asp, XP_011523380.1:p.Ala402Asp, NP_065940.1:p.Ala424Asp, NP_001277060.1:p.Ala424Asp, NP_001028733.1:p.Ala424Asp, XP_016880393.1:p.Ala393Asp, XP_047292434.1:p.Ala390Asp, XP_047292435.1:p.Ala370Asp, XP_047292436.1:p.Ala207Asp

Select item 149025172812.

rs1490251728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28946769 (GRCh38)
17:27273787 (GRCh37)
Canonical SPDI:: NC_000017.11:28946768:C:T
Gene:: PHF12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28946769C>T, NC_000017.10:g.27273787C>T

Select item 149004251813.

rs1490042518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:28922667 (GRCh38)
17:27249685 (GRCh37)
Canonical SPDI:: NC_000017.11:28922666:G:C
Gene:: PHF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28922667G>C, NC_000017.10:g.27249685G>C

Select item 148999345314.

rs1489993453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28921751 (GRCh38)
17:27248769 (GRCh37)
Canonical SPDI:: NC_000017.11:28921750:T:C
Gene:: PHF12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.28921751T>C, NC_000017.10:g.27248769T>C, XM_005258015.5:c.503A>G, XM_005258015.4:c.503A>G, XM_005258015.3:c.503A>G, XM_005258015.2:c.503A>G, XM_005258015.1:c.503A>G, XM_011525083.4:c.773A>G, XM_011525083.3:c.773A>G, XM_011525083.2:c.773A>G, XM_011525083.1:c.773A>G, XM_011525082.4:c.773A>G, XM_011525082.3:c.773A>G, XM_011525082.2:c.773A>G, XM_011525082.1:c.773A>G, XM_011525078.3:c.707A>G, XM_011525078.2:c.707A>G, XM_011525078.1:c.707A>G, NM_020889.3:c.773A>G, NM_020889.2:c.773A>G, NM_001290131.2:c.773A>G, NM_001290131.1:c.773A>G, NM_001033561.2:c.773A>G, NM_001033561.1:c.773A>G, XM_017024904.2:c.680A>G, XM_017024904.1:c.680A>G, XM_047436478.1:c.671A>G, XM_047436479.1:c.611A>G, XM_047436480.1:c.122A>G, XP_005258072.1:p.Gln168Arg, XP_011523385.1:p.Gln258Arg, XP_011523384.1:p.Gln258Arg, XP_011523380.1:p.Gln236Arg, NP_065940.1:p.Gln258Arg, NP_001277060.1:p.Gln258Arg, NP_001028733.1:p.Gln258Arg, XP_016880393.1:p.Gln227Arg, XP_047292434.1:p.Gln224Arg, XP_047292435.1:p.Gln204Arg, XP_047292436.1:p.Gln41Arg

Select item 148998991315.

rs1489989913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28939878 (GRCh38)
17:27266896 (GRCh37)
Canonical SPDI:: NC_000017.11:28939877:G:A
Gene:: PHF12 (Varview), LOC101927018 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000156/1 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.28939878G>A, NC_000017.10:g.27266896G>A

Select item 148982980716.

rs1489829807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28924233 (GRCh38)
17:27251251 (GRCh37)
Canonical SPDI:: NC_000017.11:28924232:A:G
Gene:: PHF12 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000049/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28924233A>G, NC_000017.10:g.27251251A>G, XM_005258015.5:c.121T>C, XM_005258015.4:c.121T>C, XM_005258015.3:c.121T>C, XM_005258015.2:c.121T>C, XM_005258015.1:c.121T>C, XM_011525083.4:c.391T>C, XM_011525083.3:c.391T>C, XM_011525083.2:c.391T>C, XM_011525083.1:c.391T>C, XM_011525082.4:c.391T>C, XM_011525082.3:c.391T>C, XM_011525082.2:c.391T>C, XM_011525082.1:c.391T>C, XM_011525078.3:c.325T>C, XM_011525078.2:c.325T>C, XM_011525078.1:c.325T>C, NM_020889.3:c.391T>C, NM_020889.2:c.391T>C, NM_001290131.2:c.391T>C, NM_001290131.1:c.391T>C, NM_001033561.2:c.391T>C, NM_001033561.1:c.391T>C, XM_017024904.2:c.298T>C, XM_017024904.1:c.298T>C, XM_047436478.1:c.289T>C, XM_047436479.1:c.229T>C, XM_047436480.1:c.-261T>C, XP_005258072.1:p.Ser41Pro, XP_011523385.1:p.Ser131Pro, XP_011523384.1:p.Ser131Pro, XP_011523380.1:p.Ser109Pro, NP_065940.1:p.Ser131Pro, NP_001277060.1:p.Ser131Pro, NP_001028733.1:p.Ser131Pro, XP_016880393.1:p.Ser100Pro, XP_047292434.1:p.Ser97Pro, XP_047292435.1:p.Ser77Pro

Select item 148973134417.

rs1489731344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:28947217 (GRCh38)
17:27274235 (GRCh37)
Canonical SPDI:: NC_000017.11:28947216:G:A,NC_000017.11:28947216:G:T
Gene:: PHF12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28947217G>A, NC_000017.11:g.28947217G>T, NC_000017.10:g.27274235G>A, NC_000017.10:g.27274235G>T

Select item 148955498518.

rs1489554985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28925696 (GRCh38)
17:27252714 (GRCh37)
Canonical SPDI:: NC_000017.11:28925695:C:T
Gene:: PHF12 (Varview), LOC101927018 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.28925696C>T, NC_000017.10:g.27252714C>T, XM_047436478.1:c.-364G>A

Select item 148954246319.

rs1489542463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:28910307 (GRCh38)
17:27237325 (GRCh37)
Canonical SPDI:: NC_000017.11:28910306:G:C
Gene:: PHF12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28910307G>C, NC_000017.10:g.27237325G>C, XM_005258015.5:c.2008C>G, XM_005258015.4:c.2008C>G, XM_005258015.3:c.2008C>G, XM_005258015.2:c.2008C>G, XM_005258015.1:c.2008C>G, XM_011525078.3:c.2212C>G, XM_011525078.2:c.2212C>G, XM_011525078.1:c.2212C>G, NM_001290131.2:c.2278C>G, NM_001290131.1:c.2278C>G, NM_001033561.2:c.2278C>G, NM_001033561.1:c.2278C>G, XM_017024904.2:c.2185C>G, XM_017024904.1:c.2185C>G, XM_047436478.1:c.2176C>G, XM_047436479.1:c.2116C>G, XM_047436480.1:c.1627C>G, XP_005258072.1:p.Gln670Glu, XP_011523380.1:p.Gln738Glu, NP_001277060.1:p.Gln760Glu, NP_001028733.1:p.Gln760Glu, XP_016880393.1:p.Gln729Glu, XP_047292434.1:p.Gln726Glu, XP_047292435.1:p.Gln706Glu, XP_047292436.1:p.Gln543Glu

Select item 148943919120.

rs1489439191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28944228 (GRCh38)
17:27271246 (GRCh37)
Canonical SPDI:: NC_000017.11:28944227:T:C
Gene:: PHF12 (Varview), LOC101927018 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28944228T>C, NC_000017.10:g.27271246T>C

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