SNP Links for Gene (Select 1314) - SNP

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Select item 14914956311.

rs1491495631 has merged into rs112126446 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 1:160323004 (GRCh38)
1:160292794 (GRCh37)
Canonical SPDI:: NC_000001.11:160322989:CACACACACACACACACACACACACACA:CACACACACACACA,NC_000001.11:160322989:CACACACACACACACACACACACACACA:CACACACACACACACA,NC_000001.11:160322989:CACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000001.11:160322989:CACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000001.11:160322989:CACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000001.11:160322989:CACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000001.11:160322989:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000001.11:160322989:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000001.11:160322989:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000001.11:160322989:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000001.11:160322989:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000001.11:160322989:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000001.11:160322989:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000001.11:160322989:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:160322989:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160322990CA[7], NC_000001.11:g.160322990CA[8], NC_000001.11:g.160322990CA[9], NC_000001.11:g.160322990CA[10], NC_000001.11:g.160322990CA[11], NC_000001.11:g.160322990CA[12], NC_000001.11:g.160322990CA[13], NC_000001.11:g.160322990CA[15], NC_000001.11:g.160322990CA[16], NC_000001.11:g.160322990CA[17], NC_000001.11:g.160322990CA[18], NC_000001.11:g.160322990CA[19], NC_000001.11:g.160322990CA[20], NC_000001.11:g.160322990CA[21], NC_000001.11:g.160322990CA[25], NC_000001.10:g.160292780CA[7], NC_000001.10:g.160292780CA[8], NC_000001.10:g.160292780CA[9], NC_000001.10:g.160292780CA[10], NC_000001.10:g.160292780CA[11], NC_000001.10:g.160292780CA[12], NC_000001.10:g.160292780CA[13], NC_000001.10:g.160292780CA[15], NC_000001.10:g.160292780CA[16], NC_000001.10:g.160292780CA[17], NC_000001.10:g.160292780CA[18], NC_000001.10:g.160292780CA[19], NC_000001.10:g.160292780CA[20], NC_000001.10:g.160292780CA[21], NC_000001.10:g.160292780CA[25], NG_050927.1:g.25548TG[7], NG_050927.1:g.25548TG[8], NG_050927.1:g.25548TG[9], NG_050927.1:g.25548TG[10], NG_050927.1:g.25548TG[11], NG_050927.1:g.25548TG[12], NG_050927.1:g.25548TG[13], NG_050927.1:g.25548TG[15], NG_050927.1:g.25548TG[16], NG_050927.1:g.25548TG[17], NG_050927.1:g.25548TG[18], NG_050927.1:g.25548TG[19], NG_050927.1:g.25548TG[20], NG_050927.1:g.25548TG[21], NG_050927.1:g.25548TG[25]

Select item 14914649672.

rs1491464967 has merged into rs10714948 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:160309752 (GRCh38)
1:160279542 (GRCh37)
Canonical SPDI:: NC_000001.11:160309742:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:160309742:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:160309742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:160309742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:160309742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:160309742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:160309742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:160309742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:160309742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160309742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.2567/154 (NorthernSweden)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000001.11:g.160309752_160309758del, NC_000001.11:g.160309754_160309758del, NC_000001.11:g.160309755_160309758del, NC_000001.11:g.160309756_160309758del, NC_000001.11:g.160309757_160309758del, NC_000001.11:g.160309758del, NC_000001.11:g.160309758dup, NC_000001.11:g.160309757_160309758dup, NC_000001.11:g.160309753_160309758dup, NC_000001.11:g.160309749_160309758dup, NC_000001.10:g.160279542_160279548del, NC_000001.10:g.160279544_160279548del, NC_000001.10:g.160279545_160279548del, NC_000001.10:g.160279546_160279548del, NC_000001.10:g.160279547_160279548del, NC_000001.10:g.160279548del, NC_000001.10:g.160279548dup, NC_000001.10:g.160279547_160279548dup, NC_000001.10:g.160279543_160279548dup, NC_000001.10:g.160279539_160279548dup, NG_050927.1:g.38816_38822del, NG_050927.1:g.38818_38822del, NG_050927.1:g.38819_38822del, NG_050927.1:g.38820_38822del, NG_050927.1:g.38821_38822del, NG_050927.1:g.38822del, NG_050927.1:g.38822dup, NG_050927.1:g.38821_38822dup, NG_050927.1:g.38817_38822dup, NG_050927.1:g.38813_38822dup

Select item 14914211263.

rs1491421126 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:160304023 (GRCh38)
1:160273813 (GRCh37)
Canonical SPDI:: NC_000001.11:160304021:TCT:T
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160304023_160304024del, NC_000001.10:g.160273813_160273814del, NG_050927.1:g.44542_44543del

Select item 14913410584.

rs1491341058 has merged into rs10562824 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:160335895 (GRCh38)
1:160305685 (GRCh37)
Canonical SPDI:: NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:160335883:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000001.11:g.160335895_160335906del, NC_000001.11:g.160335896_160335906del, NC_000001.11:g.160335899_160335906del, NC_000001.11:g.160335901_160335906del, NC_000001.11:g.160335902_160335906del, NC_000001.11:g.160335903_160335906del, NC_000001.11:g.160335904_160335906del, NC_000001.11:g.160335905_160335906del, NC_000001.11:g.160335906del, NC_000001.11:g.160335906dup, NC_000001.11:g.160335905_160335906dup, NC_000001.11:g.160335904_160335906dup, NC_000001.11:g.160335903_160335906dup, NC_000001.11:g.160335902_160335906dup, NC_000001.11:g.160335901_160335906dup, NC_000001.11:g.160335900_160335906dup, NC_000001.11:g.160335899_160335906dup, NC_000001.10:g.160305685_160305696del, NC_000001.10:g.160305686_160305696del, NC_000001.10:g.160305689_160305696del, NC_000001.10:g.160305691_160305696del, NC_000001.10:g.160305692_160305696del, NC_000001.10:g.160305693_160305696del, NC_000001.10:g.160305694_160305696del, NC_000001.10:g.160305695_160305696del, NC_000001.10:g.160305696del, NC_000001.10:g.160305696dup, NC_000001.10:g.160305695_160305696dup, NC_000001.10:g.160305694_160305696dup, NC_000001.10:g.160305693_160305696dup, NC_000001.10:g.160305692_160305696dup, NC_000001.10:g.160305691_160305696dup, NC_000001.10:g.160305690_160305696dup, NC_000001.10:g.160305689_160305696dup, NG_050927.1:g.12670_12681del, NG_050927.1:g.12671_12681del, NG_050927.1:g.12674_12681del, NG_050927.1:g.12676_12681del, NG_050927.1:g.12677_12681del, NG_050927.1:g.12678_12681del, NG_050927.1:g.12679_12681del, NG_050927.1:g.12680_12681del, NG_050927.1:g.12681del, NG_050927.1:g.12681dup, NG_050927.1:g.12680_12681dup, NG_050927.1:g.12679_12681dup, NG_050927.1:g.12678_12681dup, NG_050927.1:g.12677_12681dup, NG_050927.1:g.12676_12681dup, NG_050927.1:g.12675_12681dup, NG_050927.1:g.12674_12681dup

Select item 14913116345.

rs1491311634 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:160335883 (GRCh38)
1:160305673 (GRCh37)
Canonical SPDI:: NC_000001.11:160335882:CA:
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
HGVS:: NC_000001.11:g.160335883_160335884del, NC_000001.10:g.160305673_160305674del, NG_050927.1:g.12681_12682del

Select item 14913019686.

rs1491301968 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:160309743 (GRCh38)
1:160279534 (GRCh37)
Canonical SPDI:: NC_000001.11:160309743::A
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.160309743_160309744insA, NC_000001.10:g.160279533_160279534insA, NG_050927.1:g.38821_38822insT

Select item 14912937067.

rs1491293706 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:160293783 (GRCh38)
1:160263573 (GRCh37)
Canonical SPDI:: NC_000001.11:160293781:CAC:C
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (TWINSUK)
-=0.0003/1 (ALSPAC)
HGVS:: NC_000001.11:g.160293783_160293784del, NC_000001.10:g.160263573_160263574del, NG_050927.1:g.54782_54783del

Select item 14911948488.

rs1491194848 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 1:160331665 (GRCh38)
1:160301456 (GRCh37)
Canonical SPDI:: NC_000001.11:160331665::AG
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
HGVS:: NC_000001.11:g.160331665_160331666insAG, NC_000001.10:g.160301455_160301456insAG, NG_050927.1:g.16899_16900insCT

Select item 14911484859.

rs1491148485 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:160304022 (GRCh38)
1:160273813 (GRCh37)
Canonical SPDI:: NC_000001.11:160304022:C:CC
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160304023dup, NC_000001.10:g.160273813dup, NG_050927.1:g.44542dup

Select item 149110623510.

rs1491106235 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT [Show Flanks]
Chromosome:: 1:160343955 (GRCh38)
1:160313746 (GRCh37)
Canonical SPDI:: NC_000001.11:160343955:TT:TTGTT
Gene:: COPA (Varview), NCSTN (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TTGTT=0.00008/1 (ALFA)
TTG=0.00039/7 (GnomAD)
HGVS:: NC_000001.11:g.160343957_160343958insGTT, NC_000001.10:g.160313747_160313748insGTT, NG_050927.1:g.4609_4610insCAA, NG_027935.1:g.5685_5686insGTT

Select item 149100391511.

rs1491003915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160337462 (GRCh38)
1:160307252 (GRCh37)
Canonical SPDI:: NC_000001.11:160337461:G:A
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.160337462G>A, NC_000001.10:g.160307252G>A, NG_050927.1:g.11103C>T

Select item 149100030912.

rs1491000309 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:160294141 (GRCh38)
1:160263931 (GRCh37)
Canonical SPDI:: NC_000001.11:160294140:C:
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.160294141del, NC_000001.10:g.160263931del, NG_050927.1:g.54424del

Select item 149094486913.

rs1490944869 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:160301768 (GRCh38)
1:160271558 (GRCh37)
Canonical SPDI:: NC_000001.11:160301767:AAAAA:AAAA
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.160301772del, NC_000001.10:g.160271562del, NG_050927.1:g.46797del

Select item 149093377314.

rs1490933773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160292762 (GRCh38)
1:160262552 (GRCh37)
Canonical SPDI:: NC_000001.11:160292761:T:C
Gene:: COPA (Varview), LOC107985219 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.160292762T>C, NC_000001.10:g.160262552T>C, NG_050927.1:g.55803A>G, XR_001738265.2:n.2042T>C

Select item 149090737015.

rs1490907370 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160307194 (GRCh38)
1:160276984 (GRCh37)
Canonical SPDI:: NC_000001.11:160307193:T:C
Gene:: COPA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160307194T>C, NC_000001.10:g.160276984T>C, NG_050927.1:g.41371A>G, NM_004371.4:c.1271A>G, NM_004371.3:c.1271A>G, NM_001098398.2:c.1271A>G, NM_001098398.1:c.1271A>G, NP_004362.2:p.Asn424Ser, NP_001091868.1:p.Asn424Ser

Select item 149088817616.

rs1490888176 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:160301967 (GRCh38)
1:160271757 (GRCh37)
Canonical SPDI:: NC_000001.11:160301966:A:C
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160301967A>C, NC_000001.10:g.160271757A>C, NG_050927.1:g.46598T>G

Select item 149088209017.

rs1490882090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:160313974 (GRCh38)
1:160283764 (GRCh37)
Canonical SPDI:: NC_000001.11:160313973:C:A,NC_000001.11:160313973:C:G
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.160313974C>A, NC_000001.11:g.160313974C>G, NC_000001.10:g.160283764C>A, NC_000001.10:g.160283764C>G, NG_050927.1:g.34591G>T, NG_050927.1:g.34591G>C

Select item 149085488718.

rs1490854887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160326603 (GRCh38)
1:160296393 (GRCh37)
Canonical SPDI:: NC_000001.11:160326602:G:A
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.160326603G>A, NC_000001.10:g.160296393G>A, NG_050927.1:g.21962C>T

Select item 149078576919.

rs1490785769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:160328520 (GRCh38)
1:160298310 (GRCh37)
Canonical SPDI:: NC_000001.11:160328519:G:A,NC_000001.11:160328519:G:C
Gene:: COPA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.160328520G>A, NC_000001.11:g.160328520G>C, NC_000001.10:g.160298310G>A, NC_000001.10:g.160298310G>C, NG_050927.1:g.20045C>T, NG_050927.1:g.20045C>G

Select item 149078144120.

rs1490781441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:160343753 (GRCh38)
1:160313543 (GRCh37)
Canonical SPDI:: NC_000001.11:160343752:C:G
Gene:: COPA (Varview), NCSTN (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160343753C>G, NC_000001.10:g.160313543C>G, NG_050927.1:g.4812G>C, NG_027935.1:g.5481C>G

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