SNP Links for Nucleotide (Select 188595690) - SNP

Links from Nucleotide

Items: 1 to 20 of 3664

<< First< Prev

Page of 184

Next >Last >>

Select item 14914759891.

rs1491475989 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:36816601 (GRCh38)
13:37390738 (GRCh37)
Canonical SPDI:: NC_000013.11:36816600:CA:
Gene:: LOC124903158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.36816601_36816602del, NC_000013.10:g.37390738_37390739del, NG_007876.1:g.2400_2401del

Select item 14911786302.

rs1491178630 has merged into rs35356968 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:36816609 (GRCh38)
13:37390746 (GRCh37)
Canonical SPDI:: NC_000013.11:36816601:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000013.11:36816601:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:36816601:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:36816601:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:36816601:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:36816601:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:36816601:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:36816601:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:36816601:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36816601:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC124903158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.1258/485 (ALSPAC)
A=0.2939/1472 (1000Genomes)
HGVS:: NC_000013.11:g.36816609_36816618del, NC_000013.11:g.36816612_36816618del, NC_000013.11:g.36816614_36816618del, NC_000013.11:g.36816615_36816618del, NC_000013.11:g.36816616_36816618del, NC_000013.11:g.36816617_36816618del, NC_000013.11:g.36816618del, NC_000013.11:g.36816618dup, NC_000013.11:g.36816612_36816618dup, NC_000013.11:g.36816611_36816618dup, NC_000013.10:g.37390746_37390755del, NC_000013.10:g.37390749_37390755del, NC_000013.10:g.37390751_37390755del, NC_000013.10:g.37390752_37390755del, NC_000013.10:g.37390753_37390755del, NC_000013.10:g.37390754_37390755del, NC_000013.10:g.37390755del, NC_000013.10:g.37390755dup, NC_000013.10:g.37390749_37390755dup, NC_000013.10:g.37390748_37390755dup, NG_007876.1:g.2408_2417del, NG_007876.1:g.2411_2417del, NG_007876.1:g.2413_2417del, NG_007876.1:g.2414_2417del, NG_007876.1:g.2415_2417del, NG_007876.1:g.2416_2417del, NG_007876.1:g.2417del, NG_007876.1:g.2417dup, NG_007876.1:g.2411_2417dup, NG_007876.1:g.2410_2417dup

Select item 14911354863.

rs1491135486 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 13:36816239 (GRCh38)
13:37390376 (GRCh37)
Canonical SPDI:: NC_000013.11:36816238:TG:
Gene:: LOC124903158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000053/14 (TOPMED)
-=0.00335/8 (GnomAD)
HGVS:: NC_000013.11:g.36816239_36816240del, NC_000013.10:g.37390376_37390377del, NG_007876.1:g.2038_2039del

Select item 14908815214.

rs1490881521 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 13:36819068 (GRCh38)
13:37393205 (GRCh37)
Canonical SPDI:: NC_000013.11:36819067:CCC:CC
Gene:: RFXAP (Varview), LOC124903158 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.36819070del, NC_000013.10:g.37393207del, NG_007876.1:g.4869del, XR_007063760.1:n.4del

Select item 14904957895.

rs1490495789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:36826948 (GRCh38)
13:37401085 (GRCh37)
Canonical SPDI:: NC_000013.11:36826947:G:A
Gene:: RFXAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.36826948G>A, NC_000013.10:g.37401085G>A, NG_007876.1:g.12747G>A

Select item 14901622476.

rs1490162247 [Homo sapiens]

Variant type:: DELINS
Alleles:: GATGGA>- [Show Flanks]
Chromosome:: 13:36829274 (GRCh38)
13:37403411 (GRCh37)
Canonical SPDI:: NC_000013.11:36829272:AGATGGA:A
Gene:: RFXAP (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.36829274_36829279del, NC_000013.10:g.37403411_37403416del, NG_007876.1:g.15073_15078del, NM_000538.3:c.*1521_*1526del

Select item 14899629437.

rs1489962943 has merged into rs10573140 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:36821226 (GRCh38)
13:37395363 (GRCh37)
Canonical SPDI:: NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RFXAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.0664/256 (ALSPAC)
HGVS:: NC_000013.11:g.36821226_36821242del, NC_000013.11:g.36821229_36821242del, NC_000013.11:g.36821230_36821242del, NC_000013.11:g.36821231_36821242del, NC_000013.11:g.36821232_36821242del, NC_000013.11:g.36821233_36821242del, NC_000013.11:g.36821234_36821242del, NC_000013.11:g.36821235_36821242del, NC_000013.11:g.36821236_36821242del, NC_000013.11:g.36821237_36821242del, NC_000013.11:g.36821238_36821242del, NC_000013.11:g.36821239_36821242del, NC_000013.11:g.36821240_36821242del, NC_000013.11:g.36821241_36821242del, NC_000013.11:g.36821242del, NC_000013.11:g.36821242dup, NC_000013.11:g.36821241_36821242dup, NC_000013.11:g.36821240_36821242dup, NC_000013.10:g.37395363_37395379del, NC_000013.10:g.37395366_37395379del, NC_000013.10:g.37395367_37395379del, NC_000013.10:g.37395368_37395379del, NC_000013.10:g.37395369_37395379del, NC_000013.10:g.37395370_37395379del, NC_000013.10:g.37395371_37395379del, NC_000013.10:g.37395372_37395379del, NC_000013.10:g.37395373_37395379del, NC_000013.10:g.37395374_37395379del, NC_000013.10:g.37395375_37395379del, NC_000013.10:g.37395376_37395379del, NC_000013.10:g.37395377_37395379del, NC_000013.10:g.37395378_37395379del, NC_000013.10:g.37395379del, NC_000013.10:g.37395379dup, NC_000013.10:g.37395378_37395379dup, NC_000013.10:g.37395377_37395379dup, NG_007876.1:g.7025_7041del, NG_007876.1:g.7028_7041del, NG_007876.1:g.7029_7041del, NG_007876.1:g.7030_7041del, NG_007876.1:g.7031_7041del, NG_007876.1:g.7032_7041del, NG_007876.1:g.7033_7041del, NG_007876.1:g.7034_7041del, NG_007876.1:g.7035_7041del, NG_007876.1:g.7036_7041del, NG_007876.1:g.7037_7041del, NG_007876.1:g.7038_7041del, NG_007876.1:g.7039_7041del, NG_007876.1:g.7040_7041del, NG_007876.1:g.7041del, NG_007876.1:g.7041dup, NG_007876.1:g.7040_7041dup, NG_007876.1:g.7039_7041dup

Select item 14897032518.

rs1489703251 [Homo sapiens]

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

Select item 14896428399.

rs1489642839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:36826290 (GRCh38)
13:37400427 (GRCh37)
Canonical SPDI:: NC_000013.11:36826289:T:C
Gene:: RFXAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.36826290T>C, NC_000013.10:g.37400427T>C, NG_007876.1:g.12089T>C

Select item 148960413210.

rs1489604132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:36829843 (GRCh38)
13:37403980 (GRCh37)
Canonical SPDI:: NC_000013.11:36829842:C:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.36829843C>G, NC_000013.10:g.37403980C>G, NG_007876.1:g.15642C>G

Select item 148954855711.

rs1489548557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:36830965 (GRCh38)
13:37405102 (GRCh37)
Canonical SPDI:: NC_000013.11:36830964:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.36830965C>T, NC_000013.10:g.37405102C>T, NG_007876.1:g.16764C>T

Select item 148943006012.

rs1489430060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:36819555 (GRCh38)
13:37393692 (GRCh37)
Canonical SPDI:: NC_000013.11:36819554:G:A
Gene:: RFXAP (Varview), LOC124903158 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
HGVS:: NC_000013.11:g.36819555G>A, NC_000013.10:g.37393692G>A, NG_007876.1:g.5354G>A, NM_000538.4:c.198G>A, NM_000538.3:c.198G>A

Select item 148903931813.

rs1489039318 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:36821129 (GRCh38)
13:37395266 (GRCh37)
Canonical SPDI:: NC_000013.11:36821128:T:A
Gene:: RFXAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.36821129T>A, NC_000013.10:g.37395266T>A, NG_007876.1:g.6928T>A

Select item 148861770614.

rs1488617706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:36818094 (GRCh38)
13:37392231 (GRCh37)
Canonical SPDI:: NC_000013.11:36818093:A:G
Gene:: RFXAP (Varview), LOC124903158 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.36818094A>G, NC_000013.10:g.37392231A>G, NG_007876.1:g.3893A>G

Select item 148849901115.

rs1488499011 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:36821538 (GRCh38)
13:37395676 (GRCh37)
Canonical SPDI:: NC_000013.11:36821538:T:TT
Gene:: RFXAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000013.11:g.36821539dup, NC_000013.10:g.37395676dup, NG_007876.1:g.7338dup

Select item 148823396816.

rs1488233968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:36814619 (GRCh38)
13:37388756 (GRCh37)
Canonical SPDI:: NC_000013.11:36814618:C:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.36814619C>G, NC_000013.10:g.37388756C>G, NG_007876.1:g.418C>G

Select item 148769973517.

rs1487699735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:36822166 (GRCh38)
13:37396303 (GRCh37)
Canonical SPDI:: NC_000013.11:36822165:C:T
Gene:: RFXAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.36822166C>T, NC_000013.10:g.37396303C>T, NG_007876.1:g.7965C>T

Select item 148705315518.

rs1487053155 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:36830292 (GRCh38)
13:37404429 (GRCh37)
Canonical SPDI:: NC_000013.11:36830291:A:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.36830292A>C, NC_000013.10:g.37404429A>C, NG_007876.1:g.16091A>C

Select item 148659802919.

rs1486598029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:36815120 (GRCh38)
13:37389257 (GRCh37)
Canonical SPDI:: NC_000013.11:36815119:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000013.11:g.36815120A>G, NC_000013.10:g.37389257A>G, NG_007876.1:g.919A>G

Select item 148656915420.

rs1486569154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:36820055 (GRCh38)
13:37394192 (GRCh37)
Canonical SPDI:: NC_000013.11:36820054:T:C
Gene:: RFXAP (Varview), LOC124903158 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.36820055T>C, NC_000013.10:g.37394192T>C, NG_007876.1:g.5854T>C

<< First< Prev

Page of 184

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 3664

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity