SNP Links for Gene (Select 27199) - SNP

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Select item 14913410491.

rs1491341049 [Homo sapiens]

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

Select item 14911946392.

rs1491194639 has merged into rs765856782 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,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,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:96990956 (GRCh38)
13:97643210 (GRCh37)
Canonical SPDI:: NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:96990946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OXGR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.96990956_96990962del, NC_000013.11:g.96990957_96990962del, NC_000013.11:g.96990958_96990962del, NC_000013.11:g.96990959_96990962del, NC_000013.11:g.96990960_96990962del, NC_000013.11:g.96990961_96990962del, NC_000013.11:g.96990962del, NC_000013.11:g.96990962dup, NC_000013.11:g.96990961_96990962dup, NC_000013.11:g.96990960_96990962dup, NC_000013.11:g.96990959_96990962dup, NC_000013.11:g.96990958_96990962dup, NC_000013.11:g.96990957_96990962dup, NC_000013.11:g.96990956_96990962dup, NC_000013.11:g.96990955_96990962dup, NC_000013.11:g.96990954_96990962dup, NC_000013.11:g.96990953_96990962dup, NC_000013.11:g.96990952_96990962dup, NC_000013.11:g.96990951_96990962dup, NC_000013.11:g.96990950_96990962dup, NC_000013.11:g.96990949_96990962dup, NC_000013.11:g.96990948_96990962dup, NC_000013.11:g.96990947_96990962dup, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.96990962_96990963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643210_97643216del, NC_000013.10:g.97643211_97643216del, NC_000013.10:g.97643212_97643216del, NC_000013.10:g.97643213_97643216del, NC_000013.10:g.97643214_97643216del, NC_000013.10:g.97643215_97643216del, NC_000013.10:g.97643216del, NC_000013.10:g.97643216dup, NC_000013.10:g.97643215_97643216dup, NC_000013.10:g.97643214_97643216dup, NC_000013.10:g.97643213_97643216dup, NC_000013.10:g.97643212_97643216dup, NC_000013.10:g.97643211_97643216dup, NC_000013.10:g.97643210_97643216dup, NC_000013.10:g.97643209_97643216dup, NC_000013.10:g.97643208_97643216dup, NC_000013.10:g.97643207_97643216dup, NC_000013.10:g.97643206_97643216dup, NC_000013.10:g.97643205_97643216dup, NC_000013.10:g.97643204_97643216dup, NC_000013.10:g.97643203_97643216dup, NC_000013.10:g.97643202_97643216dup, NC_000013.10:g.97643201_97643216dup, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.97643216_97643217insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14909904413.

rs1490990441 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:96992635 (GRCh38)
13:97644889 (GRCh37)
Canonical SPDI:: NC_000013.11:96992634:A:G
Gene:: OXGR1 (Varview)
Functional Consequence:: intron_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_000013.11:g.96992635A>G, NC_000013.10:g.97644889A>G

Select item 14909549714.

rs1490954971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:96991710 (GRCh38)
13:97643964 (GRCh37)
Canonical SPDI:: NC_000013.11:96991709:C:G
Gene:: OXGR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.96991710C>G, NC_000013.10:g.97643964C>G

Select item 14903388635.

rs1490338863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 13:96989083 (GRCh38)
13:97641337 (GRCh37)
Canonical SPDI:: NC_000013.11:96989082:A:C,NC_000013.11:96989082:A:T
Gene:: OXGR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.96989083A>C, NC_000013.11:g.96989083A>T, NC_000013.10:g.97641337A>C, NC_000013.10:g.97641337A>T

Select item 14898449636.

rs1489844963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:96990148 (GRCh38)
13:97642402 (GRCh37)
Canonical SPDI:: NC_000013.11:96990147:T:C
Gene:: OXGR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.96990148T>C, NC_000013.10:g.97642402T>C

Select item 14898448777.

rs1489844877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:96992239 (GRCh38)
13:97644493 (GRCh37)
Canonical SPDI:: NC_000013.11:96992238:G:A
Gene:: OXGR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.96992239G>A, NC_000013.10:g.97644493G>A

Select item 14898151358.

rs1489815135 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:96987969 (GRCh38)
13:97640223 (GRCh37)
Canonical SPDI:: NC_000013.11:96987968:A:G
Gene:: OXGR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000043/6 (GnomAD)
G=0.000068/18 (TOPMED)
G=0.001369/4 (KOREAN)
G=0.001769/30 (TOMMO)
HGVS:: NC_000013.11:g.96987969A>G, NC_000013.10:g.97640223A>G

Select item 14894945229.

rs1489494522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:96994378 (GRCh38)
13:97646632 (GRCh37)
Canonical SPDI:: NC_000013.11:96994377:G:A
Gene:: OXGR1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.96994378G>A, NC_000013.10:g.97646632G>A, NM_080818.5:c.-272C>T, NM_080818.4:c.-272C>T, NM_001346194.2:c.-358C>T, NM_001346194.1:c.-358C>T, NM_001346196.2:c.-300C>T, NM_001346196.1:c.-300C>T

Select item 148929927810.

rs1489299278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:96987504 (GRCh38)
13:97639758 (GRCh37)
Canonical SPDI:: NC_000013.11:96987503:G:C
Gene:: OXGR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.96987504G>C, NC_000013.10:g.97639758G>C, NM_080818.5:c.256C>G, NM_080818.4:c.256C>G, NM_080818.3:c.256C>G, NM_001346194.2:c.256C>G, NM_001346194.1:c.256C>G, NM_001346195.2:c.256C>G, NM_001346195.1:c.256C>G, NM_001346196.2:c.256C>G, NM_001346196.1:c.256C>G, NM_001346197.2:c.256C>G, NM_001346197.1:c.256C>G, XM_047430274.1:c.256C>G, NP_543008.3:p.Leu86Val, NP_001333123.1:p.Leu86Val, NP_001333124.1:p.Leu86Val, NP_001333125.1:p.Leu86Val, NP_001333126.1:p.Leu86Val, XP_047286230.1:p.Leu86Val

Select item 148924851611.

rs1489248516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:96986749 (GRCh38)
13:97639003 (GRCh37)
Canonical SPDI:: NC_000013.11:96986748:A:C
Gene:: OXGR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.96986749A>C, NC_000013.10:g.97639003A>C, NM_080818.5:c.1011T>G, NM_080818.4:c.1011T>G, NM_080818.3:c.1011T>G, NM_001346194.2:c.1011T>G, NM_001346194.1:c.1011T>G, NM_001346195.2:c.1011T>G, NM_001346195.1:c.1011T>G, NM_001346196.2:c.1011T>G, NM_001346196.1:c.1011T>G, NM_001346197.2:c.1011T>G, NM_001346197.1:c.1011T>G, XM_047430274.1:c.1011T>G

Select item 148891603812.

rs1488916038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:96990967 (GRCh38)
13:97643221 (GRCh37)
Canonical SPDI:: NC_000013.11:96990966:G:A
Gene:: OXGR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00023/1 (ALFA)
A=0.00014/2 (TOMMO)
A=0.00022/1 (Estonian)
HGVS:: NC_000013.11:g.96990967G>A, NC_000013.10:g.97643221G>A

Select item 148885623813.

rs1488856238 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 13:96989072 (GRCh38)
13:97641326 (GRCh37)
Canonical SPDI:: NC_000013.11:96989071:T:C,NC_000013.11:96989071:T:G
Gene:: OXGR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0./0 (Korea1K)
HGVS:: NC_000013.11:g.96989072T>C, NC_000013.11:g.96989072T>G, NC_000013.10:g.97641326T>C, NC_000013.10:g.97641326T>G

Select item 148864380214.

rs1488643802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:96986254 (GRCh38)
13:97638508 (GRCh37)
Canonical SPDI:: NC_000013.11:96986253:T:C
Gene:: OXGR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.96986254T>C, NC_000013.10:g.97638508T>C, NM_080818.5:c.*492A>G, NM_080818.4:c.*492A>G, NM_080818.3:c.*492A>G, NM_001346194.2:c.*492A>G, NM_001346194.1:c.*492A>G, NM_001346195.2:c.*492A>G, NM_001346195.1:c.*492A>G, NM_001346196.2:c.*492A>G, NM_001346196.1:c.*492A>G, NM_001346197.2:c.*492A>G, NM_001346197.1:c.*492A>G, XM_047430274.1:c.*492A>G

Select item 148827885815.

rs1488278858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:96990537 (GRCh38)
13:97642791 (GRCh37)
Canonical SPDI:: NC_000013.11:96990536:T:G
Gene:: OXGR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.96990537T>G, NC_000013.10:g.97642791T>G

Select item 148793575116.

rs1487935751 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:96992117 (GRCh38)
13:97644371 (GRCh37)
Canonical SPDI:: NC_000013.11:96992116:T:G
Gene:: OXGR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.96992117T>G, NC_000013.10:g.97644371T>G

Select item 148744036817.

rs1487440368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:96989625 (GRCh38)
13:97641879 (GRCh37)
Canonical SPDI:: NC_000013.11:96989624:C:G
Gene:: OXGR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.96989625C>G, NC_000013.10:g.97641879C>G

Select item 148720822318.

rs1487208223 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:96986703 (GRCh38)
13:97638957 (GRCh37)
Canonical SPDI:: NC_000013.11:96986702:A:C
Gene:: OXGR1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000013.11:g.96986703A>C, NC_000013.10:g.97638957A>C, NM_080818.5:c.*43T>G, NM_080818.4:c.*43T>G, NM_080818.3:c.*43T>G, NM_001346194.2:c.*43T>G, NM_001346194.1:c.*43T>G, NM_001346195.2:c.*43T>G, NM_001346195.1:c.*43T>G, NM_001346196.2:c.*43T>G, NM_001346196.1:c.*43T>G, NM_001346197.2:c.*43T>G, NM_001346197.1:c.*43T>G, XM_047430274.1:c.*43T>G

Select item 148705872919.

rs1487058729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:96994974 (GRCh38)
13:97647228 (GRCh37)
Canonical SPDI:: NC_000013.11:96994973:G:T
Gene:: OXGR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.96994974G>T, NC_000013.10:g.97647228G>T

Select item 148704880020.

rs1487048800 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:96996014 (GRCh38)
13:97648268 (GRCh37)
Canonical SPDI:: NC_000013.11:96996013:T:G
Gene:: OXGR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000013.11:g.96996014T>G, NC_000013.10:g.97648268T>G

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