SNP Links for Gene (Select 8560) - SNP

Links from Gene

Items: 1 to 20 of 3236

<< First< Prev

Page of 162

Next >Last >>

Select item 14914681041.

rs1491468104 has merged into rs748181749 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:224191599 (GRCh38)
1:224379301 (GRCh37)
Canonical SPDI:: NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DEGS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000001.11:g.224191599_224191614del, NC_000001.11:g.224191601_224191614del, NC_000001.11:g.224191602_224191614del, NC_000001.11:g.224191605_224191614del, NC_000001.11:g.224191606_224191614del, NC_000001.11:g.224191607_224191614del, NC_000001.11:g.224191608_224191614del, NC_000001.11:g.224191609_224191614del, NC_000001.11:g.224191610_224191614del, NC_000001.11:g.224191611_224191614del, NC_000001.11:g.224191612_224191614del, NC_000001.11:g.224191613_224191614del, NC_000001.11:g.224191614del, NC_000001.11:g.224191614dup, NC_000001.11:g.224191613_224191614dup, NC_000001.11:g.224191612_224191614dup, NC_000001.11:g.224191611_224191614dup, NC_000001.11:g.224191610_224191614dup, NC_000001.11:g.224191609_224191614dup, NC_000001.11:g.224191608_224191614dup, NC_000001.11:g.224191607_224191614dup, NC_000001.11:g.224191604_224191614dup, NC_000001.11:g.224191614_224191615insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.224379301_224379316del, NC_000001.10:g.224379303_224379316del, NC_000001.10:g.224379304_224379316del, NC_000001.10:g.224379307_224379316del, NC_000001.10:g.224379308_224379316del, NC_000001.10:g.224379309_224379316del, NC_000001.10:g.224379310_224379316del, NC_000001.10:g.224379311_224379316del, NC_000001.10:g.224379312_224379316del, NC_000001.10:g.224379313_224379316del, NC_000001.10:g.224379314_224379316del, NC_000001.10:g.224379315_224379316del, NC_000001.10:g.224379316del, NC_000001.10:g.224379316dup, NC_000001.10:g.224379315_224379316dup, NC_000001.10:g.224379314_224379316dup, NC_000001.10:g.224379313_224379316dup, NC_000001.10:g.224379312_224379316dup, NC_000001.10:g.224379311_224379316dup, NC_000001.10:g.224379310_224379316dup, NC_000001.10:g.224379309_224379316dup, NC_000001.10:g.224379306_224379316dup, NC_000001.10:g.224379316_224379317insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914655102.

rs1491465510 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:224185006 (GRCh38)
1:224372708 (GRCh37)
Canonical SPDI:: NC_000001.11:224185005:CT:
Gene:: DEGS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.005708/22 (ALSPAC)
-=0.007821/29 (TWINSUK)
HGVS:: NC_000001.11:g.224185006_224185007del, NC_000001.10:g.224372708_224372709del

Select item 14913259103.

rs1491325910 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:224191590 (GRCh38)
1:224379292 (GRCh37)
Canonical SPDI:: NC_000001.11:224191589:CT:
Gene:: DEGS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.224191590_224191591del, NC_000001.10:g.224379292_224379293del

Select item 14911752874.

rs1491175287 has merged into rs775995303 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACTC,GC [Show Flanks]
Chromosome:: 1:224185005 (GRCh38)
1:224372708 (GRCh37)
Canonical SPDI:: NC_000001.11:224185005:C:CACTC,NC_000001.11:224185005:C:CGC
Gene:: DEGS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
CG=0.00005/5 (GnomAD)
CACT=0.00539/20 (TWINSUK)
CACT=0.00882/34 (ALSPAC)
HGVS:: NC_000001.11:g.224185006_224185007insACTC, NC_000001.11:g.224185006_224185007insGC, NC_000001.10:g.224372708_224372709insACTC, NC_000001.10:g.224372708_224372709insGC

Select item 14911382205.

rs1491138220 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:224186712 (GRCh38)
1:224374414 (GRCh37)
Canonical SPDI:: NC_000001.11:224186711:CA:
Gene:: DEGS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.224186712_224186713del, NC_000001.10:g.224374414_224374415del

Select item 14908037006.

rs1490803700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:224189917 (GRCh38)
1:224377619 (GRCh37)
Canonical SPDI:: NC_000001.11:224189916:T:C
Gene:: DEGS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000248/4 (TOMMO)
HGVS:: NC_000001.11:g.224189917T>C, NC_000001.10:g.224377619T>C, NM_003676.4:c.423T>C, NM_003676.3:c.423T>C, XM_017002648.3:c.315T>C, XM_017002648.2:c.315T>C, XM_017002648.1:c.315T>C, NM_001321541.2:c.423T>C, NM_001321541.1:c.423T>C, NM_001321542.2:c.315T>C, NM_001321542.1:c.315T>C, NM_144780.1:c.423T>C

Select item 14906646337.

rs1490664633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:224190199 (GRCh38)
1:224377901 (GRCh37)
Canonical SPDI:: NC_000001.11:224190198:G:C
Gene:: DEGS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.224190199G>C, NC_000001.10:g.224377901G>C, NM_003676.4:c.705G>C, NM_003676.3:c.705G>C, XM_017002648.3:c.597G>C, XM_017002648.2:c.597G>C, XM_017002648.1:c.597G>C, NM_001321541.2:c.705G>C, NM_001321541.1:c.705G>C, NM_001321542.2:c.597G>C, NM_001321542.1:c.597G>C, NM_144780.1:c.705G>C, NP_003667.1:p.Met235Ile, XP_016858137.1:p.Met199Ile, NP_001308470.1:p.Met235Ile, NP_001308471.1:p.Met199Ile

Select item 14906584358.

rs1490658435 [Homo sapiens]

Variant type:: DEL
Alleles:: GTTTTTTG>- [Show Flanks]
Chromosome:: 1:224184462 (GRCh38)
1:224372164 (GRCh37)
Canonical SPDI:: NC_000001.11:224184461:GTTTTTTG:
Gene:: DEGS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.224184462_224184469del, NC_000001.10:g.224372164_224372171del

Select item 14904911109.

rs1490491110 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:224191784 (GRCh38)
1:224379486 (GRCh37)
Canonical SPDI:: NC_000001.11:224191783:A:G
Gene:: DEGS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.224191784A>G, NC_000001.10:g.224379486A>G

Select item 149037669010.

rs1490376690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:224191293 (GRCh38)
1:224378995 (GRCh37)
Canonical SPDI:: NC_000001.11:224191292:G:A,NC_000001.11:224191292:G:T
Gene:: DEGS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.224191293G>A, NC_000001.11:g.224191293G>T, NC_000001.10:g.224378995G>A, NC_000001.10:g.224378995G>T

Select item 149035020111.

rs1490350201 has merged into rs1451560857 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAG>-,AG,AGAG [Show Flanks]
Chromosome:: 1:224192209 (GRCh38)
1:224379911 (GRCh37)
Canonical SPDI:: NC_000001.11:224192206:AGAGAGAG:AG,NC_000001.11:224192206:AGAGAGAG:AGAG,NC_000001.11:224192206:AGAGAGAG:AGAGAG
Gene:: DEGS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.00031/2 (1000Genomes)
-=0.00067/11 (TOMMO)
HGVS:: NC_000001.11:g.224192207AG[1], NC_000001.11:g.224192207AG[2], NC_000001.11:g.224192207AG[3], NC_000001.10:g.224379909AG[1], NC_000001.10:g.224379909AG[2], NC_000001.10:g.224379909AG[3]

Select item 149033880112.

rs1490338801 has merged into rs58790626 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 1:224184983 (GRCh38)
1:224372685 (GRCh37)
Canonical SPDI:: NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:224184970:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: DEGS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACAC=0./0 (ALFA)
ACACACACAC=0.15/6 (GENOME_DK)
ACACACACAC=0.4569/1761 (ALSPAC)
HGVS:: NC_000001.11:g.224184971AC[6], NC_000001.11:g.224184971AC[7], NC_000001.11:g.224184971AC[8], NC_000001.11:g.224184971AC[9], NC_000001.11:g.224184971AC[10], NC_000001.11:g.224184971AC[11], NC_000001.11:g.224184971AC[12], NC_000001.11:g.224184971AC[13], NC_000001.11:g.224184971AC[14], NC_000001.11:g.224184971AC[15], NC_000001.11:g.224184971AC[16], NC_000001.11:g.224184971AC[17], NC_000001.11:g.224184971AC[19], NC_000001.11:g.224184971AC[20], NC_000001.11:g.224184971AC[21], NC_000001.11:g.224184971AC[22], NC_000001.11:g.224184971AC[23], NC_000001.11:g.224184971AC[25], NC_000001.10:g.224372673AC[6], NC_000001.10:g.224372673AC[7], NC_000001.10:g.224372673AC[8], NC_000001.10:g.224372673AC[9], NC_000001.10:g.224372673AC[10], NC_000001.10:g.224372673AC[11], NC_000001.10:g.224372673AC[12], NC_000001.10:g.224372673AC[13], NC_000001.10:g.224372673AC[14], NC_000001.10:g.224372673AC[15], NC_000001.10:g.224372673AC[16], NC_000001.10:g.224372673AC[17], NC_000001.10:g.224372673AC[19], NC_000001.10:g.224372673AC[20], NC_000001.10:g.224372673AC[21], NC_000001.10:g.224372673AC[22], NC_000001.10:g.224372673AC[23], NC_000001.10:g.224372673AC[25]

Select item 149005370513.

rs1490053705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:224192106 (GRCh38)
1:224379808 (GRCh37)
Canonical SPDI:: NC_000001.11:224192105:A:G
Gene:: DEGS1 (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_000001.11:g.224192106A>G, NC_000001.10:g.224379808A>G

Select item 149002791614.

rs1490027916 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:224193224 (GRCh38)
1:224380926 (GRCh37)
Canonical SPDI:: NC_000001.11:224193223:GGG:GG
Gene:: DEGS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.224193226del, NC_000001.10:g.224380928del, NM_003676.4:c.*748del, NM_003676.3:c.*748del, XM_017002648.3:c.*748del, XM_017002648.1:c.*748del, NM_001321541.2:c.*918del, NM_001321541.1:c.*918del, NM_001321542.2:c.*748del, NM_001321542.1:c.*748del, NM_144780.1:c.*371del

Select item 148879214315.

rs1488792143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:224188961 (GRCh38)
1:224376663 (GRCh37)
Canonical SPDI:: NC_000001.11:224188960:C:G
Gene:: DEGS1 (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_000001.11:g.224188961C>G, NC_000001.10:g.224376663C>G

Select item 148861235616.

rs1488612356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:224181481 (GRCh38)
1:224369183 (GRCh37)
Canonical SPDI:: NC_000001.11:224181480:G:A
Gene:: DEGS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.224181481G>A, NC_000001.10:g.224369183G>A

Select item 148840803917.

rs1488408039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:224184964 (GRCh38)
1:224372666 (GRCh37)
Canonical SPDI:: NC_000001.11:224184963:C:G
Gene:: DEGS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.224184964C>G, NC_000001.10:g.224372666C>G

Select item 148798069818.

rs1487980698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:224181294 (GRCh38)
1:224368996 (GRCh37)
Canonical SPDI:: NC_000001.11:224181293:C:T
Gene:: DEGS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.224181294C>T, NC_000001.10:g.224368996C>T

Select item 148759133919.

rs1487591339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:224186980 (GRCh38)
1:224374682 (GRCh37)
Canonical SPDI:: NC_000001.11:224186979:C:A
Gene:: DEGS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.224186980C>A, NC_000001.10:g.224374682C>A

Select item 148726535920.

rs1487265359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:224193936 (GRCh38)
1:224381638 (GRCh37)
Canonical SPDI:: NC_000001.11:224193935:C:A
Gene:: DEGS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.224193936C>A, NC_000001.10:g.224381638C>A

<< First< Prev

Page of 162

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 3236

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity