SNP Links for Gene (Select 100873982) - SNP

Links from Gene

Items: 1 to 20 of 1598

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Select item 14915856541.

rs1491585654 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 3:184007015 (GRCh38)
3:183724803 (GRCh37)
Canonical SPDI:: NC_000003.12:184007014:GC:
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.184007015_184007016del, NC_000003.11:g.183724803_183724804del, NG_047115.1:g.15995_15996del

Select item 14915359022.

rs1491535902 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:184010266 (GRCh38)
3:183728054 (GRCh37)
Canonical SPDI:: NC_000003.12:184010265:CA:
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview), LOC124909468 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00346/41 (ALFA)
-=0.00139/23 (TOMMO)
HGVS:: NC_000003.12:g.184010266_184010267del, NC_000003.11:g.183728054_183728055del, NG_047115.1:g.12744_12745del

Select item 14914511403.

rs1491451140 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC [Show Flanks]
Chromosome:: 3:184007015 (GRCh38)
3:183724804 (GRCh37)
Canonical SPDI:: NC_000003.12:184007015:C:CATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000003.12:g.184007016_184007017insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC, NC_000003.11:g.183724804_183724805insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC, NG_047115.1:g.15995_15996insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATG

Select item 14913470304.

rs1491347030 has merged into rs10541470 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAATTTTAGGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATTTAGGAAACATTAAAGAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:184010277 (GRCh38)
3:183728065 (GRCh37)
Canonical SPDI:: NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATTTTAGGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATTTAGGAAACATTAAAGAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview), LOC124909468 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.184010277_184010289del, NC_000003.12:g.184010279_184010289del, NC_000003.12:g.184010280_184010289del, NC_000003.12:g.184010282_184010289del, NC_000003.12:g.184010283_184010289del, NC_000003.12:g.184010284_184010289del, NC_000003.12:g.184010285_184010289del, NC_000003.12:g.184010286_184010289del, NC_000003.12:g.184010287_184010289del, NC_000003.12:g.184010288_184010289del, NC_000003.12:g.184010289del, NC_000003.12:g.184010289dup, NC_000003.12:g.184010288_184010289dup, NC_000003.12:g.184010287_184010289dup, NC_000003.12:g.184010286_184010289dup, NC_000003.12:g.184010285_184010289dup, NC_000003.12:g.184010284_184010289dup, NC_000003.12:g.184010283_184010289dup, NC_000003.12:g.184010289_184010290insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.184010289_184010290insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.184010267_184010289A[24]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.184010267_184010289A[24]T[4]AGGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.184010267_184010289A[23]TTTAGGAAACATTAAAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.183728065_183728077del, NC_000003.11:g.183728067_183728077del, NC_000003.11:g.183728068_183728077del, NC_000003.11:g.183728070_183728077del, NC_000003.11:g.183728071_183728077del, NC_000003.11:g.183728072_183728077del, NC_000003.11:g.183728073_183728077del, NC_000003.11:g.183728074_183728077del, NC_000003.11:g.183728075_183728077del, NC_000003.11:g.183728076_183728077del, NC_000003.11:g.183728077del, NC_000003.11:g.183728077dup, NC_000003.11:g.183728076_183728077dup, NC_000003.11:g.183728075_183728077dup, NC_000003.11:g.183728074_183728077dup, NC_000003.11:g.183728073_183728077dup, NC_000003.11:g.183728072_183728077dup, NC_000003.11:g.183728071_183728077dup, NC_000003.11:g.183728077_183728078insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.183728077_183728078insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.183728055_183728077A[24]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.183728055_183728077A[24]T[4]AGGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.183728055_183728077A[23]TTTAGGAAACATTAAAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_047115.1:g.12732_12744del, NG_047115.1:g.12734_12744del, NG_047115.1:g.12735_12744del, NG_047115.1:g.12737_12744del, NG_047115.1:g.12738_12744del, NG_047115.1:g.12739_12744del, NG_047115.1:g.12740_12744del, NG_047115.1:g.12741_12744del, NG_047115.1:g.12742_12744del, NG_047115.1:g.12743_12744del, NG_047115.1:g.12744del, NG_047115.1:g.12744dup, NG_047115.1:g.12743_12744dup, NG_047115.1:g.12742_12744dup, NG_047115.1:g.12741_12744dup, NG_047115.1:g.12740_12744dup, NG_047115.1:g.12739_12744dup, NG_047115.1:g.12738_12744dup, NG_047115.1:g.12744_12745insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047115.1:g.12744_12745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047115.1:g.12722_12744T[29]ATTTTTTTTTTTTTTTTTTTTTTTT[1], NG_047115.1:g.12722_12744T[25]CCTAAAATTTTTTTTTTTTTTTTTTTTTTTT[1], NG_047115.1:g.12722_12744T[25]CTTTAATGTTTCCTAAATTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14911744795.

rs1491174479 has merged into rs55882083 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:184010806 (GRCh38)
3:183728594 (GRCh37)
Canonical SPDI:: NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview), LOC124909468 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.184010806_184010814del, NC_000003.12:g.184010808_184010814del, NC_000003.12:g.184010811_184010814del, NC_000003.12:g.184010812_184010814del, NC_000003.12:g.184010813_184010814del, NC_000003.12:g.184010814del, NC_000003.12:g.184010814dup, NC_000003.12:g.184010813_184010814dup, NC_000003.12:g.184010812_184010814dup, NC_000003.12:g.184010811_184010814dup, NC_000003.12:g.184010810_184010814dup, NC_000003.12:g.184010803_184010814dup, NC_000003.11:g.183728594_183728602del, NC_000003.11:g.183728596_183728602del, NC_000003.11:g.183728599_183728602del, NC_000003.11:g.183728600_183728602del, NC_000003.11:g.183728601_183728602del, NC_000003.11:g.183728602del, NC_000003.11:g.183728602dup, NC_000003.11:g.183728601_183728602dup, NC_000003.11:g.183728600_183728602dup, NC_000003.11:g.183728599_183728602dup, NC_000003.11:g.183728598_183728602dup, NC_000003.11:g.183728591_183728602dup, NG_047115.1:g.12204_12212del, NG_047115.1:g.12206_12212del, NG_047115.1:g.12209_12212del, NG_047115.1:g.12210_12212del, NG_047115.1:g.12211_12212del, NG_047115.1:g.12212del, NG_047115.1:g.12212dup, NG_047115.1:g.12211_12212dup, NG_047115.1:g.12210_12212dup, NG_047115.1:g.12209_12212dup, NG_047115.1:g.12208_12212dup, NG_047115.1:g.12201_12212dup, NG_083211.1:g.501_509del, NG_083211.1:g.503_509del, NG_083211.1:g.506_509del, NG_083211.1:g.507_509del, NG_083211.1:g.508_509del, NG_083211.1:g.509del, NG_083211.1:g.509dup, NG_083211.1:g.508_509dup, NG_083211.1:g.507_509dup, NG_083211.1:g.506_509dup, NG_083211.1:g.505_509dup, NG_083211.1:g.498_509dup

Select item 14910910846.

rs1491091084 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:184004506 (GRCh38)
3:183722294 (GRCh37)
Canonical SPDI:: NC_000003.12:184004505:CA:
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000003.12:g.184004506_184004507del, NC_000003.11:g.183722294_183722295del, NG_047115.1:g.18504_18505del

Select item 14910834977.

rs1491083497 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:184007040 (GRCh38)
3:183724828 (GRCh37)
Canonical SPDI:: NC_000003.12:184007039:TG:
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000003.12:g.184007040_184007041del, NC_000003.11:g.183724828_183724829del, NG_047115.1:g.15970_15971del

Select item 14907233788.

rs1490723378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:184011866 (GRCh38)
3:183729654 (GRCh37)
Canonical SPDI:: NC_000003.12:184011865:A:G
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview), LOC124909468 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.184011866A>G, NC_000003.11:g.183729654A>G, NG_047115.1:g.11145T>C

Select item 14906217989.

rs1490621798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:184005215 (GRCh38)
3:183723003 (GRCh37)
Canonical SPDI:: NC_000003.12:184005214:A:C
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.184005215A>C, NC_000003.11:g.183723003A>C, NG_047115.1:g.17796T>G

Select item 149056055010.

rs1490560550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:184011231 (GRCh38)
3:183729019 (GRCh37)
Canonical SPDI:: NC_000003.12:184011230:A:C,NC_000003.12:184011230:A:G
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview), LOC124909468 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000003.12:g.184011231A>C, NC_000003.12:g.184011231A>G, NC_000003.11:g.183729019A>C, NC_000003.11:g.183729019A>G, NG_047115.1:g.11780T>G, NG_047115.1:g.11780T>C, NG_083211.1:g.926A>C, NG_083211.1:g.926A>G

Select item 148888551211.

rs1488885512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:184005544 (GRCh38)
3:183723332 (GRCh37)
Canonical SPDI:: NC_000003.12:184005543:C:G,NC_000003.12:184005543:C:T
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.184005544C>G, NC_000003.12:g.184005544C>T, NC_000003.11:g.183723332C>G, NC_000003.11:g.183723332C>T, NG_047115.1:g.17467G>C, NG_047115.1:g.17467G>A

Select item 148851204912.

rs1488512049 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148767404913.

rs1487674049 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:184004580 (GRCh38)
3:183722368 (GRCh37)
Canonical SPDI:: NC_000003.12:184004579:T:C
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000003.12:g.184004580T>C, NC_000003.11:g.183722368T>C, NG_047115.1:g.18431A>G

Select item 148650880914.

rs1486508809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:184010679 (GRCh38)
3:183728467 (GRCh37)
Canonical SPDI:: NC_000003.12:184010678:C:T
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview), LOC124909468 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000038/10 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000003.12:g.184010679C>T, NC_000003.11:g.183728467C>T, NG_047115.1:g.12332G>A, NG_083211.1:g.374C>T

Select item 148641627415.

rs1486416274 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:184007370 (GRCh38)
3:183725158 (GRCh37)
Canonical SPDI:: NC_000003.12:184007369:A:G
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000546/1 (Korea1K)
G=0.000684/2 (KOREAN)
HGVS:: NC_000003.12:g.184007370A>G, NC_000003.11:g.183725158A>G, NG_047115.1:g.15641T>C

Select item 148504604416.

rs1485046044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:184006897 (GRCh38)
3:183724685 (GRCh37)
Canonical SPDI:: NC_000003.12:184006896:G:A
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.184006897G>A, NC_000003.11:g.183724685G>A, NG_047115.1:g.16114C>T

Select item 148494527817.

rs1484945278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:184005143 (GRCh38)
3:183722931 (GRCh37)
Canonical SPDI:: NC_000003.12:184005142:G:A
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.184005143G>A, NC_000003.11:g.183722931G>A, NG_047115.1:g.17868C>T

Select item 148402890618.

rs1484028906 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:184005400 (GRCh38)
3:183723188 (GRCh37)
Canonical SPDI:: NC_000003.12:184005399:A:G
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.184005400A>G, NC_000003.11:g.183723188A>G, NG_047115.1:g.17611T>C

Select item 148391607819.

rs1483916078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:184006269 (GRCh38)
3:183724057 (GRCh37)
Canonical SPDI:: NC_000003.12:184006268:T:C
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD)
HGVS:: NC_000003.12:g.184006269T>C, NC_000003.11:g.183724057T>C, NG_047115.1:g.16742A>G

Select item 148323395020.

rs1483233950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:184007278 (GRCh38)
3:183725066 (GRCh37)
Canonical SPDI:: NC_000003.12:184007277:C:T
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00007/1 (ALFA)
T=0.00028/5 (TOMMO)
HGVS:: NC_000003.12:g.184007278C>T, NC_000003.11:g.183725066C>T, NG_047115.1:g.15733G>A

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