SNP Links for Gene (Select 6303) - SNP

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Select item 14915799971.

rs1491579997 has merged into rs9306769 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:23784579 (GRCh38)
X:23802696 (GRCh37)
Canonical SPDI:: NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SAT1 (Varview), LOC105373148 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.23784579_23784588del, NC_000023.11:g.23784581_23784588del, NC_000023.11:g.23784583_23784588del, NC_000023.11:g.23784584_23784588del, NC_000023.11:g.23784585_23784588del, NC_000023.11:g.23784586_23784588del, NC_000023.11:g.23784587_23784588del, NC_000023.11:g.23784588del, NC_000023.11:g.23784588dup, NC_000023.11:g.23784587_23784588dup, NC_000023.11:g.23784586_23784588dup, NC_000023.11:g.23784585_23784588dup, NC_000023.11:g.23784584_23784588dup, NC_000023.11:g.23784583_23784588dup, NC_000023.11:g.23784582_23784588dup, NC_000023.11:g.23784581_23784588dup, NC_000023.11:g.23784580_23784588dup, NC_000023.11:g.23784579_23784588dup, NC_000023.10:g.23802696_23802705del, NC_000023.10:g.23802698_23802705del, NC_000023.10:g.23802700_23802705del, NC_000023.10:g.23802701_23802705del, NC_000023.10:g.23802702_23802705del, NC_000023.10:g.23802703_23802705del, NC_000023.10:g.23802704_23802705del, NC_000023.10:g.23802705del, NC_000023.10:g.23802705dup, NC_000023.10:g.23802704_23802705dup, NC_000023.10:g.23802703_23802705dup, NC_000023.10:g.23802702_23802705dup, NC_000023.10:g.23802701_23802705dup, NC_000023.10:g.23802700_23802705dup, NC_000023.10:g.23802699_23802705dup, NC_000023.10:g.23802698_23802705dup, NC_000023.10:g.23802697_23802705dup, NC_000023.10:g.23802696_23802705dup, NG_012929.1:g.6422_6431del, NG_012929.1:g.6424_6431del, NG_012929.1:g.6426_6431del, NG_012929.1:g.6427_6431del, NG_012929.1:g.6428_6431del, NG_012929.1:g.6429_6431del, NG_012929.1:g.6430_6431del, NG_012929.1:g.6431del, NG_012929.1:g.6431dup, NG_012929.1:g.6430_6431dup, NG_012929.1:g.6429_6431dup, NG_012929.1:g.6428_6431dup, NG_012929.1:g.6427_6431dup, NG_012929.1:g.6426_6431dup, NG_012929.1:g.6425_6431dup, NG_012929.1:g.6424_6431dup, NG_012929.1:g.6423_6431dup, NG_012929.1:g.6422_6431dup

Select item 14907579382.

rs1490757938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:23786521 (GRCh38)
X:23804638 (GRCh37)
Canonical SPDI:: NC_000023.11:23786520:A:T
Gene:: SAT1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000053/14 (TOPMED)
HGVS:: NC_000023.11:g.23786521A>T, NC_000023.10:g.23804638A>T, NG_012929.1:g.8364A>T

Select item 14906451833.

rs1490645183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:23785066 (GRCh38)
X:23803183 (GRCh37)
Canonical SPDI:: NC_000023.11:23785065:G:C
Gene:: SAT1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0./0 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.23785066G>C, NC_000023.10:g.23803183G>C, NG_012929.1:g.6909G>C, XM_047442338.1:c.46G>C, XP_047298294.1:p.Glu16Gln

Select item 14901456924.

rs1490145692 has merged into rs9306769 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:23784579 (GRCh38)
X:23802696 (GRCh37)
Canonical SPDI:: NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:23784568:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SAT1 (Varview), LOC105373148 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.23784579_23784588del, NC_000023.11:g.23784581_23784588del, NC_000023.11:g.23784583_23784588del, NC_000023.11:g.23784584_23784588del, NC_000023.11:g.23784585_23784588del, NC_000023.11:g.23784586_23784588del, NC_000023.11:g.23784587_23784588del, NC_000023.11:g.23784588del, NC_000023.11:g.23784588dup, NC_000023.11:g.23784587_23784588dup, NC_000023.11:g.23784586_23784588dup, NC_000023.11:g.23784585_23784588dup, NC_000023.11:g.23784584_23784588dup, NC_000023.11:g.23784583_23784588dup, NC_000023.11:g.23784582_23784588dup, NC_000023.11:g.23784581_23784588dup, NC_000023.11:g.23784580_23784588dup, NC_000023.11:g.23784579_23784588dup, NC_000023.10:g.23802696_23802705del, NC_000023.10:g.23802698_23802705del, NC_000023.10:g.23802700_23802705del, NC_000023.10:g.23802701_23802705del, NC_000023.10:g.23802702_23802705del, NC_000023.10:g.23802703_23802705del, NC_000023.10:g.23802704_23802705del, NC_000023.10:g.23802705del, NC_000023.10:g.23802705dup, NC_000023.10:g.23802704_23802705dup, NC_000023.10:g.23802703_23802705dup, NC_000023.10:g.23802702_23802705dup, NC_000023.10:g.23802701_23802705dup, NC_000023.10:g.23802700_23802705dup, NC_000023.10:g.23802699_23802705dup, NC_000023.10:g.23802698_23802705dup, NC_000023.10:g.23802697_23802705dup, NC_000023.10:g.23802696_23802705dup, NG_012929.1:g.6422_6431del, NG_012929.1:g.6424_6431del, NG_012929.1:g.6426_6431del, NG_012929.1:g.6427_6431del, NG_012929.1:g.6428_6431del, NG_012929.1:g.6429_6431del, NG_012929.1:g.6430_6431del, NG_012929.1:g.6431del, NG_012929.1:g.6431dup, NG_012929.1:g.6430_6431dup, NG_012929.1:g.6429_6431dup, NG_012929.1:g.6428_6431dup, NG_012929.1:g.6427_6431dup, NG_012929.1:g.6426_6431dup, NG_012929.1:g.6425_6431dup, NG_012929.1:g.6424_6431dup, NG_012929.1:g.6423_6431dup, NG_012929.1:g.6422_6431dup

Select item 14881751525.

rs1488175152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:23786396 (GRCh38)
X:23804513 (GRCh37)
Canonical SPDI:: NC_000023.11:23786395:T:A
Gene:: SAT1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.23786396T>A, NC_000023.10:g.23804513T>A, NG_012929.1:g.8239T>A

Select item 14878722746.

rs1487872274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:23782017 (GRCh38)
X:23800134 (GRCh37)
Canonical SPDI:: NC_000023.11:23782016:C:T
Gene:: SAT1 (Varview), LOC105373148 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_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.23782017C>T, NC_000023.10:g.23800134C>T, NG_012929.1:g.3860C>T

Select item 14845908417.

rs1484590841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:23783151 (GRCh38)
X:23801268 (GRCh37)
Canonical SPDI:: NC_000023.11:23783150:C:G
Gene:: SAT1 (Varview), LOC105373148 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.23783151C>G, NC_000023.10:g.23801268C>G, NG_012929.1:g.4994C>G

Select item 14843307498.

rs1484330749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:23782789 (GRCh38)
X:23800906 (GRCh37)
Canonical SPDI:: NC_000023.11:23782788:C:A,NC_000023.11:23782788:C:T
Gene:: SAT1 (Varview), LOC105373148 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000042/11 (TOPMED)
A=0.00009/2 (TOMMO)
HGVS:: NC_000023.11:g.23782789C>A, NC_000023.11:g.23782789C>T, NC_000023.10:g.23800906C>A, NC_000023.10:g.23800906C>T, NG_012929.1:g.4632C>A, NG_012929.1:g.4632C>T, XR_950535.3:n.198G>T, XR_950535.3:n.198G>A, XR_950535.2:n.113G>T, XR_950535.2:n.113G>A, XR_950535.1:n.113G>T, XR_950535.1:n.113G>A, XR_001755813.2:n.198G>T, XR_001755813.2:n.198G>A, XR_001755813.1:n.113G>T, XR_001755813.1:n.113G>A, XR_001755814.2:n.198G>T, XR_001755814.2:n.198G>A, XR_001755814.1:n.113G>T, XR_001755814.1:n.113G>A, XR_001755817.2:n.198G>T, XR_001755817.2:n.198G>A, XR_001755817.1:n.104G>T, XR_001755817.1:n.104G>A

Select item 14842838759.

rs1484283875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:23783835 (GRCh38)
X:23801952 (GRCh37)
Canonical SPDI:: NC_000023.11:23783834:T:C
Gene:: SAT1 (Varview), LOC105373148 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.23783835T>C, NC_000023.10:g.23801952T>C, NG_012929.1:g.5678T>C, NM_002970.4:c.154T>C, NM_002970.3:c.154T>C, NM_002970.2:c.154T>C, NR_027783.3:n.333T>C, NR_027783.2:n.348T>C, NR_027783.1:n.348T>C, NP_002961.1:p.Tyr52His

Select item 148397855710.

rs1483978557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:23785368 (GRCh38)
X:23803485 (GRCh37)
Canonical SPDI:: NC_000023.11:23785367:T:C
Gene:: SAT1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.23785368T>C, NC_000023.10:g.23803485T>C, NG_012929.1:g.7211T>C, NM_002970.4:c.243T>C, NM_002970.3:c.243T>C, NM_002970.2:c.243T>C, NR_027783.3:n.532T>C, NR_027783.2:n.547T>C, NR_027783.1:n.547T>C, XM_047442338.1:c.348T>C

Select item 148391200911.

rs1483912009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:23785871 (GRCh38)
X:23803988 (GRCh37)
Canonical SPDI:: NC_000023.11:23785870:G:A
Gene:: SAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.23785871G>A, NC_000023.10:g.23803988G>A, NG_012929.1:g.7714G>A, NM_002970.4:c.*15G>A, NM_002970.3:c.*15G>A, NM_002970.2:c.*15G>A, NR_027783.3:n.820G>A, NR_027783.2:n.835G>A, NR_027783.1:n.835G>A, XM_047442338.1:c.*15G>A

Select item 148334756512.

rs1483347565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:23782131 (GRCh38)
X:23800248 (GRCh37)
Canonical SPDI:: NC_000023.11:23782130:T:C
Gene:: SAT1 (Varview), LOC105373148 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.23782131T>C, NC_000023.10:g.23800248T>C, NG_012929.1:g.3974T>C

Select item 148331781013.

rs1483317810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:23783317 (GRCh38)
X:23801434 (GRCh37)
Canonical SPDI:: NC_000023.11:23783316:C:T
Gene:: SAT1 (Varview), LOC105373148 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.23783317C>T, NC_000023.10:g.23801434C>T, NG_012929.1:g.5160C>T, NM_002970.4:c.-35C>T, NM_002970.3:c.-35C>T, NM_002970.2:c.-35C>T, NR_027783.3:n.145C>T, NR_027783.2:n.160C>T, NR_027783.1:n.160C>T

Select item 148317945714.

rs1483179457 has merged into rs56178545 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAAAAAA>-,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,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:23781886 (GRCh38)
X:23800003 (GRCh37)
Canonical SPDI:: NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SAT1 (Varview), LOC105373148 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000023.11:g.23781886_23781913del, NC_000023.11:g.23781887_23781913del, NC_000023.11:g.23781888_23781913del, NC_000023.11:g.23781889_23781913del, NC_000023.11:g.23781890_23781913del, NC_000023.11:g.23781891_23781913del, NC_000023.11:g.23781892_23781913del, NC_000023.11:g.23781893_23781913del, NC_000023.11:g.23781894_23781913del, NC_000023.11:g.23781895_23781913del, NC_000023.11:g.23781896_23781913del, NC_000023.11:g.23781897_23781913del, NC_000023.11:g.23781898_23781913del, NC_000023.11:g.23781899_23781913del, NC_000023.11:g.23781900_23781913del, NC_000023.11:g.23781901_23781913del, NC_000023.11:g.23781902_23781913del, NC_000023.11:g.23781903_23781913del, NC_000023.11:g.23781904_23781913del, NC_000023.11:g.23781905_23781913del, NC_000023.11:g.23781906_23781913del, NC_000023.11:g.23781907_23781913del, NC_000023.11:g.23781908_23781913del, NC_000023.11:g.23781909_23781913del, NC_000023.11:g.23781910_23781913del, NC_000023.11:g.23781911_23781913del, NC_000023.11:g.23781912_23781913del, NC_000023.11:g.23781913del, NC_000023.11:g.23781913dup, NC_000023.11:g.23781912_23781913dup, NC_000023.11:g.23781911_23781913dup, NC_000023.11:g.23781910_23781913dup, NC_000023.11:g.23781909_23781913dup, NC_000023.11:g.23781908_23781913dup, NC_000023.11:g.23781907_23781913dup, NC_000023.11:g.23781906_23781913dup, NC_000023.11:g.23781905_23781913dup, NC_000023.11:g.23781904_23781913dup, NC_000023.11:g.23781903_23781913dup, NC_000023.11:g.23781902_23781913dup, NC_000023.11:g.23781901_23781913dup, NC_000023.11:g.23781900_23781913dup, NC_000023.11:g.23781899_23781913dup, NC_000023.11:g.23781898_23781913dup, NC_000023.11:g.23781897_23781913dup, NC_000023.11:g.23781896_23781913dup, NC_000023.11:g.23781895_23781913dup, NC_000023.11:g.23781894_23781913dup, NC_000023.11:g.23781891_23781913dup, NC_000023.11:g.23781890_23781913dup, NC_000023.11:g.23781889_23781913dup, NC_000023.11:g.23781888_23781913dup, NC_000023.11:g.23781886_23781913dup, NC_000023.10:g.23800003_23800030del, NC_000023.10:g.23800004_23800030del, NC_000023.10:g.23800005_23800030del, NC_000023.10:g.23800006_23800030del, NC_000023.10:g.23800007_23800030del, NC_000023.10:g.23800008_23800030del, NC_000023.10:g.23800009_23800030del, NC_000023.10:g.23800010_23800030del, NC_000023.10:g.23800011_23800030del, NC_000023.10:g.23800012_23800030del, NC_000023.10:g.23800013_23800030del, NC_000023.10:g.23800014_23800030del, NC_000023.10:g.23800015_23800030del, NC_000023.10:g.23800016_23800030del, NC_000023.10:g.23800017_23800030del, NC_000023.10:g.23800018_23800030del, NC_000023.10:g.23800019_23800030del, NC_000023.10:g.23800020_23800030del, NC_000023.10:g.23800021_23800030del, NC_000023.10:g.23800022_23800030del, NC_000023.10:g.23800023_23800030del, NC_000023.10:g.23800024_23800030del, NC_000023.10:g.23800025_23800030del, NC_000023.10:g.23800026_23800030del, NC_000023.10:g.23800027_23800030del, NC_000023.10:g.23800028_23800030del, NC_000023.10:g.23800029_23800030del, NC_000023.10:g.23800030del, NC_000023.10:g.23800030dup, NC_000023.10:g.23800029_23800030dup, NC_000023.10:g.23800028_23800030dup, NC_000023.10:g.23800027_23800030dup, NC_000023.10:g.23800026_23800030dup, NC_000023.10:g.23800025_23800030dup, NC_000023.10:g.23800024_23800030dup, NC_000023.10:g.23800023_23800030dup, NC_000023.10:g.23800022_23800030dup, NC_000023.10:g.23800021_23800030dup, NC_000023.10:g.23800020_23800030dup, NC_000023.10:g.23800019_23800030dup, NC_000023.10:g.23800018_23800030dup, NC_000023.10:g.23800017_23800030dup, NC_000023.10:g.23800016_23800030dup, NC_000023.10:g.23800015_23800030dup, NC_000023.10:g.23800014_23800030dup, NC_000023.10:g.23800013_23800030dup, NC_000023.10:g.23800012_23800030dup, NC_000023.10:g.23800011_23800030dup, NC_000023.10:g.23800008_23800030dup, NC_000023.10:g.23800007_23800030dup, NC_000023.10:g.23800006_23800030dup, NC_000023.10:g.23800005_23800030dup, NC_000023.10:g.23800003_23800030dup, NG_012929.1:g.3729_3756del, NG_012929.1:g.3730_3756del, NG_012929.1:g.3731_3756del, NG_012929.1:g.3732_3756del, NG_012929.1:g.3733_3756del, NG_012929.1:g.3734_3756del, NG_012929.1:g.3735_3756del, NG_012929.1:g.3736_3756del, NG_012929.1:g.3737_3756del, NG_012929.1:g.3738_3756del, NG_012929.1:g.3739_3756del, NG_012929.1:g.3740_3756del, NG_012929.1:g.3741_3756del, NG_012929.1:g.3742_3756del, NG_012929.1:g.3743_3756del, NG_012929.1:g.3744_3756del, NG_012929.1:g.3745_3756del, NG_012929.1:g.3746_3756del, NG_012929.1:g.3747_3756del, NG_012929.1:g.3748_3756del, NG_012929.1:g.3749_3756del, NG_012929.1:g.3750_3756del, NG_012929.1:g.3751_3756del, NG_012929.1:g.3752_3756del, NG_012929.1:g.3753_3756del, NG_012929.1:g.3754_3756del, NG_012929.1:g.3755_3756del, NG_012929.1:g.3756del, NG_012929.1:g.3756dup, NG_012929.1:g.3755_3756dup, NG_012929.1:g.3754_3756dup, NG_012929.1:g.3753_3756dup, NG_012929.1:g.3752_3756dup, NG_012929.1:g.3751_3756dup, NG_012929.1:g.3750_3756dup, NG_012929.1:g.3749_3756dup, NG_012929.1:g.3748_3756dup, NG_012929.1:g.3747_3756dup, NG_012929.1:g.3746_3756dup, NG_012929.1:g.3745_3756dup, NG_012929.1:g.3744_3756dup, NG_012929.1:g.3743_3756dup, NG_012929.1:g.3742_3756dup, NG_012929.1:g.3741_3756dup, NG_012929.1:g.3740_3756dup, NG_012929.1:g.3739_3756dup, NG_012929.1:g.3738_3756dup, NG_012929.1:g.3737_3756dup, NG_012929.1:g.3734_3756dup, NG_012929.1:g.3733_3756dup, NG_012929.1:g.3732_3756dup, NG_012929.1:g.3731_3756dup, NG_012929.1:g.3729_3756dup

Select item 148310904115.

rs1483109041 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:23783012 (GRCh38)
X:23801129 (GRCh37)
Canonical SPDI:: NC_000023.11:23783011:T:A
Gene:: SAT1 (Varview), LOC105373148 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.23783012T>A, NC_000023.10:g.23801129T>A, NG_012929.1:g.4855T>A

Select item 148236461816.

rs1482364618 has merged into rs56178545 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAAAAAA>-,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,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:23781886 (GRCh38)
X:23800003 (GRCh37)
Canonical SPDI:: NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23781874:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SAT1 (Varview), LOC105373148 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000023.11:g.23781886_23781913del, NC_000023.11:g.23781887_23781913del, NC_000023.11:g.23781888_23781913del, NC_000023.11:g.23781889_23781913del, NC_000023.11:g.23781890_23781913del, NC_000023.11:g.23781891_23781913del, NC_000023.11:g.23781892_23781913del, NC_000023.11:g.23781893_23781913del, NC_000023.11:g.23781894_23781913del, NC_000023.11:g.23781895_23781913del, NC_000023.11:g.23781896_23781913del, NC_000023.11:g.23781897_23781913del, NC_000023.11:g.23781898_23781913del, NC_000023.11:g.23781899_23781913del, NC_000023.11:g.23781900_23781913del, NC_000023.11:g.23781901_23781913del, NC_000023.11:g.23781902_23781913del, NC_000023.11:g.23781903_23781913del, NC_000023.11:g.23781904_23781913del, NC_000023.11:g.23781905_23781913del, NC_000023.11:g.23781906_23781913del, NC_000023.11:g.23781907_23781913del, NC_000023.11:g.23781908_23781913del, NC_000023.11:g.23781909_23781913del, NC_000023.11:g.23781910_23781913del, NC_000023.11:g.23781911_23781913del, NC_000023.11:g.23781912_23781913del, NC_000023.11:g.23781913del, NC_000023.11:g.23781913dup, NC_000023.11:g.23781912_23781913dup, NC_000023.11:g.23781911_23781913dup, NC_000023.11:g.23781910_23781913dup, NC_000023.11:g.23781909_23781913dup, NC_000023.11:g.23781908_23781913dup, NC_000023.11:g.23781907_23781913dup, NC_000023.11:g.23781906_23781913dup, NC_000023.11:g.23781905_23781913dup, NC_000023.11:g.23781904_23781913dup, NC_000023.11:g.23781903_23781913dup, NC_000023.11:g.23781902_23781913dup, NC_000023.11:g.23781901_23781913dup, NC_000023.11:g.23781900_23781913dup, NC_000023.11:g.23781899_23781913dup, NC_000023.11:g.23781898_23781913dup, NC_000023.11:g.23781897_23781913dup, NC_000023.11:g.23781896_23781913dup, NC_000023.11:g.23781895_23781913dup, NC_000023.11:g.23781894_23781913dup, NC_000023.11:g.23781891_23781913dup, NC_000023.11:g.23781890_23781913dup, NC_000023.11:g.23781889_23781913dup, NC_000023.11:g.23781888_23781913dup, NC_000023.11:g.23781886_23781913dup, NC_000023.10:g.23800003_23800030del, NC_000023.10:g.23800004_23800030del, NC_000023.10:g.23800005_23800030del, NC_000023.10:g.23800006_23800030del, NC_000023.10:g.23800007_23800030del, NC_000023.10:g.23800008_23800030del, NC_000023.10:g.23800009_23800030del, NC_000023.10:g.23800010_23800030del, NC_000023.10:g.23800011_23800030del, NC_000023.10:g.23800012_23800030del, NC_000023.10:g.23800013_23800030del, NC_000023.10:g.23800014_23800030del, NC_000023.10:g.23800015_23800030del, NC_000023.10:g.23800016_23800030del, NC_000023.10:g.23800017_23800030del, NC_000023.10:g.23800018_23800030del, NC_000023.10:g.23800019_23800030del, NC_000023.10:g.23800020_23800030del, NC_000023.10:g.23800021_23800030del, NC_000023.10:g.23800022_23800030del, NC_000023.10:g.23800023_23800030del, NC_000023.10:g.23800024_23800030del, NC_000023.10:g.23800025_23800030del, NC_000023.10:g.23800026_23800030del, NC_000023.10:g.23800027_23800030del, NC_000023.10:g.23800028_23800030del, NC_000023.10:g.23800029_23800030del, NC_000023.10:g.23800030del, NC_000023.10:g.23800030dup, NC_000023.10:g.23800029_23800030dup, NC_000023.10:g.23800028_23800030dup, NC_000023.10:g.23800027_23800030dup, NC_000023.10:g.23800026_23800030dup, NC_000023.10:g.23800025_23800030dup, NC_000023.10:g.23800024_23800030dup, NC_000023.10:g.23800023_23800030dup, NC_000023.10:g.23800022_23800030dup, NC_000023.10:g.23800021_23800030dup, NC_000023.10:g.23800020_23800030dup, NC_000023.10:g.23800019_23800030dup, NC_000023.10:g.23800018_23800030dup, NC_000023.10:g.23800017_23800030dup, NC_000023.10:g.23800016_23800030dup, NC_000023.10:g.23800015_23800030dup, NC_000023.10:g.23800014_23800030dup, NC_000023.10:g.23800013_23800030dup, NC_000023.10:g.23800012_23800030dup, NC_000023.10:g.23800011_23800030dup, NC_000023.10:g.23800008_23800030dup, NC_000023.10:g.23800007_23800030dup, NC_000023.10:g.23800006_23800030dup, NC_000023.10:g.23800005_23800030dup, NC_000023.10:g.23800003_23800030dup, NG_012929.1:g.3729_3756del, NG_012929.1:g.3730_3756del, NG_012929.1:g.3731_3756del, NG_012929.1:g.3732_3756del, NG_012929.1:g.3733_3756del, NG_012929.1:g.3734_3756del, NG_012929.1:g.3735_3756del, NG_012929.1:g.3736_3756del, NG_012929.1:g.3737_3756del, NG_012929.1:g.3738_3756del, NG_012929.1:g.3739_3756del, NG_012929.1:g.3740_3756del, NG_012929.1:g.3741_3756del, NG_012929.1:g.3742_3756del, NG_012929.1:g.3743_3756del, NG_012929.1:g.3744_3756del, NG_012929.1:g.3745_3756del, NG_012929.1:g.3746_3756del, NG_012929.1:g.3747_3756del, NG_012929.1:g.3748_3756del, NG_012929.1:g.3749_3756del, NG_012929.1:g.3750_3756del, NG_012929.1:g.3751_3756del, NG_012929.1:g.3752_3756del, NG_012929.1:g.3753_3756del, NG_012929.1:g.3754_3756del, NG_012929.1:g.3755_3756del, NG_012929.1:g.3756del, NG_012929.1:g.3756dup, NG_012929.1:g.3755_3756dup, NG_012929.1:g.3754_3756dup, NG_012929.1:g.3753_3756dup, NG_012929.1:g.3752_3756dup, NG_012929.1:g.3751_3756dup, NG_012929.1:g.3750_3756dup, NG_012929.1:g.3749_3756dup, NG_012929.1:g.3748_3756dup, NG_012929.1:g.3747_3756dup, NG_012929.1:g.3746_3756dup, NG_012929.1:g.3745_3756dup, NG_012929.1:g.3744_3756dup, NG_012929.1:g.3743_3756dup, NG_012929.1:g.3742_3756dup, NG_012929.1:g.3741_3756dup, NG_012929.1:g.3740_3756dup, NG_012929.1:g.3739_3756dup, NG_012929.1:g.3738_3756dup, NG_012929.1:g.3737_3756dup, NG_012929.1:g.3734_3756dup, NG_012929.1:g.3733_3756dup, NG_012929.1:g.3732_3756dup, NG_012929.1:g.3731_3756dup, NG_012929.1:g.3729_3756dup

Select item 148150015917.

rs1481500159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:23786033 (GRCh38)
X:23804150 (GRCh37)
Canonical SPDI:: NC_000023.11:23786032:C:T
Gene:: SAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.23786033C>T, NC_000023.10:g.23804150C>T, NG_012929.1:g.7876C>T, NM_002970.4:c.*177C>T, NM_002970.3:c.*177C>T, NM_002970.2:c.*177C>T, NR_027783.3:n.982C>T, NR_027783.2:n.997C>T, NR_027783.1:n.997C>T, XM_047442338.1:c.*177C>T

Select item 148144785418.

rs1481447854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:23782600 (GRCh38)
X:23800717 (GRCh37)
Canonical SPDI:: NC_000023.11:23782599:C:T
Gene:: SAT1 (Varview), LOC105373148 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.23782600C>T, NC_000023.10:g.23800717C>T, NG_012929.1:g.4443C>T, XR_950535.3:n.387G>A, XR_950535.2:n.302G>A, XR_950535.1:n.302G>A, XR_001755816.3:n.151G>A, XR_001755816.2:n.271G>A, XR_001755816.1:n.177G>A, XR_001755813.2:n.387G>A, XR_001755813.1:n.302G>A, XR_001755814.2:n.387G>A, XR_001755814.1:n.302G>A, XR_001755817.2:n.387G>A, XR_001755817.1:n.293G>A

Select item 148107959519.

rs1481079595 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:23785187 (GRCh38)
X:23803304 (GRCh37)
Canonical SPDI:: NC_000023.11:23785186:T:C
Gene:: SAT1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.23785187T>C, NC_000023.10:g.23803304T>C, NG_012929.1:g.7030T>C, XM_047442338.1:c.167T>C, XP_047298294.1:p.Ile56Thr

Select item 148105611520.

rs1481056115 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:23786018 (GRCh38)
X:23804135 (GRCh37)
Canonical SPDI:: NC_000023.11:23786017:T:A
Gene:: SAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.23786018T>A, NC_000023.10:g.23804135T>A, NG_012929.1:g.7861T>A, NM_002970.4:c.*162T>A, NM_002970.3:c.*162T>A, NM_002970.2:c.*162T>A, NR_027783.3:n.967T>A, NR_027783.2:n.982T>A, NR_027783.1:n.982T>A, XM_047442338.1:c.*162T>A

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